#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ERICH3	127254	broad.mit.edu	37	1	75037029	75037029	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:75037029C>T	ENST00000326665.5	-	14	4583	c.4365G>A	c.(4363-4365)caG>caA	p.Q1455Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1455	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGGCTGCCTCCTGGCCCTCTG	0.592																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4363-4365)caG>caA		chromosome 1 open reading frame 173							96.0	90.0	92.0					1																	75037029		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037029C>T																												ENST00000326665.5:c.4365G>A	1.37:g.75037029C>T			Somatic				C1orf173_ENST00000433746.2_5'UTR	p.Q1455Q	NM_001002912.4	NP_001002912.4	WXS	Illumina GAIIx	Phase_I	Q5RHP9	CA173_HUMAN			14	4583	-			1455			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4365G>A	CCDS30755.1																																																																																				0.592	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			8	72	8	72	---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210637880	210637880	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:210637880C>T	ENST00000367010.1	+	8	1115	c.888C>T	c.(886-888)ttC>ttT	p.F296F	HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000261458.3_Silent_p.F296F|HHAT_ENST00000391905.3_Silent_p.F296F|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Silent_p.F159F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	296					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGCTCTTTTTCTACGTGAAGT	0.562																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(886-888)ttC>ttT		hedgehog acyltransferase							223.0	218.0	220.0					1																	210637880		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637880C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.888C>T	1.37:g.210637880C>T			Somatic				HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000391905.3_Silent_p.F296F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000541565.1_Silent_p.F159F|HHAT_ENST00000261458.3_Silent_p.F296F|HHAT_ENST00000367009.1_5'UTR	p.F296F	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1115	+			296					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.888C>T	CCDS1495.1																																																																																				0.562	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		33	148	33	148	---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210637915	210637915	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:210637915C>T	ENST00000367010.1	+	8	1150	c.923C>T	c.(922-924)gCt>gTt	p.A308V	HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000261458.3_Missense_Mutation_p.A308V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	308					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GGCGTGCCTGCTCTGCTCATG	0.577																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(922-924)gCt>gTt		hedgehog acyltransferase							195.0	183.0	187.0					1																	210637915		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637915C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.923C>T	1.37:g.210637915C>T	ENSP00000355977:p.Ala308Val		Somatic				HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V|HHAT_ENST00000261458.3_Missense_Mutation_p.A308V|HHAT_ENST00000367009.1_5'UTR	p.A308V	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1150	+			308					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.923C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864610	0.71949	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.42	5.42	0.78866	.	0.114839	0.64402	D	0.000013	T	0.81235	0.4780	M	0.69823	2.125	0.37078	D	0.898862	D;P;D;D;D	0.65815	0.991;0.921;0.995;0.97;0.986	P;P;P;P;P	0.60949	0.881;0.547;0.867;0.675;0.742	T	0.81315	-0.0988	10	0.27785	T	0.31	-10.8376	17.987	0.89158	0.0:1.0:0.0:0.0	.	263;309;171;243;308	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	V	308;171;309;243;308;245;308;263;308;180	ENSP00000416845:A308V;ENSP00000444995:A171V;ENSP00000438468:A309V;ENSP00000442625:A243V;ENSP00000375773:A308V;ENSP00000439229:A245V;ENSP00000261458:A308V;ENSP00000308628:A263V;ENSP00000355977:A308V;ENSP00000413399:A180V	ENSP00000261458:A308V	A	+	2	0	HHAT	208704538	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	2.639000	0.46570	2.533000	0.85409	0.555000	0.69702	GCT		0.577	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		24	121	24	121	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237923150	237923150	+	Silent	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:237923150T>C	ENST00000366574.2	+	83	11717	c.11400T>C	c.(11398-11400)tgT>tgC	p.C3800C	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.C3806C|RYR2_ENST00000542537.1_Silent_p.C3784C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3800					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCAGTCATGTAGGTAAGGAC	0.433																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11398-11400)tgT>tgC		ryanodine receptor 2 (cardiac)							121.0	117.0	118.0					1																	237923150		1855	4102	5957	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237923150T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11400T>C	1.37:g.237923150T>C			Somatic				RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.C3806C|RYR2_ENST00000542537.1_Silent_p.C3784C	p.C3800C	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		83	11717	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3800					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.11400T>C	CCDS55691.1																																																																																				0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	29	14	29	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114274943	114274943	+	Silent	SNP	A	A	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr4:114274943A>G	ENST00000357077.4	+	38	5222	c.5169A>G	c.(5167-5169)gcA>gcG	p.A1723A	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.A1690A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1723					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGCTAGTGCAGAGAAAGCTG	0.423																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5167-5169)gcA>gcG		ankyrin 2, neuronal							180.0	189.0	186.0					4																	114274943		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274943A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5169A>G	4.37:g.114274943A>G			Somatic				ANK2_ENST00000264366.6_Silent_p.A1690A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	p.A1723A	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5222	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1690					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.5169A>G	CCDS3702.1																																																																																				0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	209	13	209	---	---	---	---
HHIP	64399	broad.mit.edu	37	4	145580946	145580946	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr4:145580946G>A	ENST00000296575.3	+	4	1442	c.787G>A	c.(787-789)Gag>Aag	p.E263K	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.E263K	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	263					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AATTTTCAAGGAGCCTTATTT	0.373																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(787-789)Gag>Aag		hedgehog interacting protein							77.0	86.0	83.0					4																	145580946		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580946G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.787G>A	4.37:g.145580946G>A	ENSP00000296575:p.Glu263Lys		Somatic				HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.E263K|HHIP_ENST00000511314.1_3'UTR	p.E263K	NM_022475.2	NP_071920.1	WXS	Illumina GAIIx	Phase_I	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1442	+	all_hematologic(180;0.151)		263					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.787G>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714783	0.89112	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.44482	2.56;0.92	5.78	5.78	0.91487	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	L	0.37750	1.13	0.80722	D	1	D;P	0.67145	0.996;0.903	D;P	0.79784	0.993;0.573	T	0.42032	-0.9475	10	0.23891	T	0.37	-26.6666	20.0009	0.97408	0.0:0.0:1.0:0.0	.	263;263	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	K	263	ENSP00000296575:E263K;ENSP00000408587:E263K	ENSP00000296575:E263K	E	+	1	0	HHIP	145800396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.736000	0.93811	0.555000	0.69702	GAG		0.373	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			6	112	6	112	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146350830	146350830	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr6:146350830C>T	ENST00000282753.1	+	1	412	c.177C>T	c.(175-177)gcC>gcT	p.A59A	GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000392299.2_Silent_p.A59A|GRM1_ENST00000361719.2_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000355289.4_Silent_p.A59A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	59					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCCTCCGGCCGAGAAAGTGC	0.587																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(175-177)gcC>gcT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						67.0	65.0	66.0					6																	146350830		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350830C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.177C>T	6.37:g.146350830C>T			Somatic				GRM1_ENST00000355289.4_Silent_p.A59A|GRM1_ENST00000282753.1_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000361719.2_Silent_p.A59A	p.A59A			WXS	Illumina GAIIx	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	647	+		Ovarian(120;0.0387)	59					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.177C>T	CCDS5209.1																																																																																				0.587	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	65	5	65	---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87369182	87369182	+	Silent	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:87369182T>C	ENST00000338056.3	+	6	996	c.585T>C	c.(583-585)aaT>aaC	p.N195N	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000394654.3_Silent_p.N178N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	195	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAGGACTCAATGCTATTGATT	0.308																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(583-585)aaT>aaC		RUN domain containing 3B							65.0	64.0	64.0					7																	87369182		2203	4299	6502	SO:0001819	synonymous_variant	154661							g.chr7:87369182T>C		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.585T>C	7.37:g.87369182T>C			Somatic				RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Silent_p.N178N	p.N195N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	WXS	Illumina GAIIx	Phase_I	Q96NL0	RUN3B_HUMAN			6	996	+	Esophageal squamous(14;0.00164)		195			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	ENST00000338056.3	37	c.585T>C	CCDS5609.1																																																																																				0.308	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		4	43	4	43	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151962178	151962178	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:151962178G>T	ENST00000262189.6	-	8	1347	c.1129C>A	c.(1129-1131)Cca>Aca	p.P377T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P377T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	377					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGTTTTAATGGAGTAACCGCT	0.453																																						ENST00000355193.2																			0											c.(1129-1131)Cca>Aca		lysine (K)-specific methyltransferase 2C							465.0	416.0	433.0					7																	151962178		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151962178G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1129C>A	7.37:g.151962178G>T	ENSP00000262189:p.Pro377Thr		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.P377T	p.P377T			WXS	Illumina GAIIx	Phase_I					8	1347	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1129C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.883	0.952119	0.18431	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98822	-5.16;-5.16	4.65	3.76	0.43208	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41500	U	0.000864	D	0.96836	0.8967	L	0.39467	1.215	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	D	0.95685	0.8735	10	0.45353	T	0.12	.	14.2796	0.66202	0.0:0.2835:0.7165:0.0	.	377	Q8NEZ4	MLL3_HUMAN	T	377	ENSP00000262189:P377T;ENSP00000347325:P377T	ENSP00000262189:P377T	P	-	1	0	MLL3	151593111	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.473000	0.66774	1.047000	0.40274	-0.310000	0.09108	CCA		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			28	528	28	528	---	---	---	---
MTFR1	9650	broad.mit.edu	37	8	66619384	66619384	+	Silent	SNP	C	C	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:66619384C>A	ENST00000262146.4	+	6	783	c.657C>A	c.(655-657)gcC>gcA	p.A219A	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.A186A	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	219	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AGAAAAGAGCCAATGCTGGAA	0.473																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(655-657)gcC>gcA		mitochondrial fission regulator 1							79.0	79.0	79.0					8																	66619384		2203	4300	6503	SO:0001819	synonymous_variant	9650					mitochondrion|plasma membrane		g.chr8:66619384C>A		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.657C>A	8.37:g.66619384C>A			Somatic				MTFR1_ENST00000458689.2_Silent_p.A186A|MTFR1_ENST00000517944.1_3'UTR	p.A219A	NM_014637.3	NP_055452.3	WXS	Illumina GAIIx	Phase_I	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		6	783	+			219					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Silent	SNP	ENST00000262146.4	37	c.657C>A	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.550|2.550	-0.304180|-0.304180	0.05495|0.05495	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000527155	.|.	.|.	.|.	5.49|5.49	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|T	0.25531|0.25531	0.0621|0.0621	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.16100|0.16100	-1.0414|-1.0414	4|4	.|.	.|.	.|.	.|.	4.6944|4.6944	0.12797|0.12797	0.1121:0.5843:0.1534:0.1502|0.1121:0.5843:0.1534:0.1502	.|.	.|.	.|.	.|.	Q|K	177|33	.|.	.|.	P|Q	+|+	2|1	0|0	MTFR1|MTFR1	66781938|66781938	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.451000|0.451000	0.32288|0.32288	-0.633000|-0.633000	0.05483|0.05483	1.315000|1.315000	0.45114|0.45114	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.473	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		4	73	4	73	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106456601	106456601	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:106456601A>C	ENST00000407775.2	+	3	543	c.293A>C	c.(292-294)gAt>gCt	p.D98A	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	98					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACGACTGGGATGGACCAGGT	0.423																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(292-294)gAt>gCt		zinc finger protein, FOG family member 2							65.0	68.0	67.0					8																	106456601		1887	4116	6003	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106456601A>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.293A>C	8.37:g.106456601A>C	ENSP00000384179:p.Asp98Ala		Somatic				ZFPM2_ENST00000520492.1_5'UTR	p.D98A	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		3	543	+			98					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.293A>C	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242506	0.79912	.	.	ENSG00000169946	ENST00000407775	T	0.20738	2.05	5.87	4.7	0.59300	.	0.144796	0.44285	D	0.000466	T	0.18130	0.0435	L	0.43152	1.355	0.80722	D	1	P	0.37525	0.598	B	0.32211	0.142	T	0.02121	-1.1210	10	0.72032	D	0.01	.	12.4663	0.55759	0.8744:0.0:0.0:0.1256	.	98	Q8WW38	FOG2_HUMAN	A	98	ENSP00000384179:D98A	ENSP00000384179:D98A	D	+	2	0	ZFPM2	106525777	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.649000	0.91067	1.130000	0.42092	0.533000	0.62120	GAT		0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			3	12	3	12	---	---	---	---
DCAF10	79269	broad.mit.edu	37	9	37801316	37801316	+	Silent	SNP	C	C	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr9:37801316C>G	ENST00000377724.3	+	1	818	c.453C>G	c.(451-453)ctC>ctG	p.L151L	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Silent_p.L151L	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	151					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TGACTAGCCTCTACGGTTCCA	0.682																																						ENST00000242323.7																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						c.(451-453)ctC>ctG		DDB1 and CUL4 associated factor 10							32.0	17.0	22.0					9																	37801316		2097	4114	6211	SO:0001819	synonymous_variant	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37801316C>G	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.453C>G	9.37:g.37801316C>G			Somatic				RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Silent_p.L151L	p.L151L			WXS	Illumina GAIIx	Phase_I	Q5QP82	DCA10_HUMAN			1	527	+			151					A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Silent	SNP	ENST00000377724.3	37	c.453C>G	CCDS6613.2																																																																																				0.682	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		4	9	4	9	---	---	---	---
CATSPER1	117144	broad.mit.edu	37	11	65789325	65789325	+	Silent	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:65789325G>A	ENST00000312106.5	-	3	1592	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	485					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGAAGAATATGGAGTCCAAGG	0.562																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1453-1455)tcC>tcT		cation channel, sperm associated 1							144.0	129.0	134.0					11																	65789325		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65789325G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1455C>T	11.37:g.65789325G>A			Somatic					p.S485S	NM_053054.3	NP_444282.3	WXS	Illumina GAIIx	Phase_I	Q8NEC5	CTSR1_HUMAN			3	1592	-			485					Q96P76	Silent	SNP	ENST00000312106.5	37	c.1455C>T	CCDS8127.1																																																																																				0.562	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		22	50	22	50	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54925128	54925128	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr12:54925128T>C	ENST00000293373.6	+	23	2670	c.2591T>C	c.(2590-2592)aTt>aCt	p.I864T	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	864					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCTCTCAGATTGTGGAGCTG	0.502																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2590-2592)aTt>aCt		NCK-associated protein 1-like							158.0	164.0	162.0					12																	54925128		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925128T>C	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2591T>C	12.37:g.54925128T>C	ENSP00000293373:p.Ile864Thr		Somatic				NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T	p.I864T	NM_005337.4	NP_005328.2	WXS	Illumina GAIIx	Phase_I	P55160	NCKPL_HUMAN			23	2670	+			864					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2591T>C	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029309	0.54790	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.36520	1.25;1.25	4.66	4.66	0.58398	.	0.064020	0.64402	D	0.000009	T	0.34687	0.0906	L	0.55990	1.75	0.47214	D	0.999358	B	0.31413	0.322	B	0.32211	0.142	T	0.22034	-1.0228	10	0.48119	T	0.1	-14.9018	12.3845	0.55325	0.0:0.0:0.0:1.0	.	864	P55160	NCKPL_HUMAN	T	864;814	ENSP00000293373:I864T;ENSP00000445596:I814T	ENSP00000293373:I864T	I	+	2	0	NCKAP1L	53211395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.677000	0.84024	2.094000	0.63399	0.459000	0.35465	ATT		0.502	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		4	217	4	217	---	---	---	---
AP1G2	8906	broad.mit.edu	37	14	24035556	24035556	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr14:24035556C>T	ENST00000308724.5	-	3	1157	c.402G>A	c.(400-402)gaG>gaA	p.E134E	AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Silent_p.E134E|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	134					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTCGGCACATCTCAGCAGAGC	0.617																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(400-402)gaG>gaA		adaptor-related protein complex 1, gamma 2 subunit							67.0	64.0	65.0					14																	24035556		2203	4300	6503	SO:0001819	synonymous_variant	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24035556C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.402G>A	14.37:g.24035556C>T			Somatic				AP1G2_ENST00000397120.3_Silent_p.E134E|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	p.E134E	NM_003917.2	NP_003908.1	WXS	Illumina GAIIx	Phase_I	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	3	1157	-	all_cancers(95;0.000251)		134					D3DS51|O75504	Silent	SNP	ENST00000308724.5	37	c.402G>A	CCDS9602.1																																																																																				0.617	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		21	44	21	44	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70902478	70902478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:70902478G>A	ENST00000393567.2	-	66	11455	c.11305C>T	c.(11305-11307)Cga>Tga	p.R3769*	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3769					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTACTTTTCGTTTTGTAGTG	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(11305-11307)Cga>Tga		HYDIN, axonemal central pair apparatus protein							39.0	36.0	37.0					16																	70902478		1814	4044	5858	SO:0001587	stop_gained	54768							g.chr16:70902478G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11305C>T	16.37:g.70902478G>A	ENSP00000377197:p.Arg3769*		Somatic					p.R3769*	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	Q4G0P3	HYDIN_HUMAN			66	11455	-		Ovarian(137;0.0654)	3769					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.11305C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	53	20.983958	0.99936	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	5.17	3.06	0.35304	.	0.456909	0.13210	U	0.405214	.	.	.	.	.	.	0.30143	N	0.803773	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3301	0.32180	0.0:0.0986:0.5008:0.4007	.	.	.	.	X	3769;3768	.	ENSP00000313052:R3768X	R	-	1	2	HYDIN	69459979	1.000000	0.71417	0.562000	0.28370	0.973000	0.67179	2.292000	0.43549	0.483000	0.27608	0.511000	0.50034	CGA		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			8	21	8	21	---	---	---	---
AP1G1	164	broad.mit.edu	37	16	71779049	71779049	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:71779049G>A	ENST00000299980.4	-	19	2438	c.1997C>T	c.(1996-1998)aCa>aTa	p.T666I	AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	666					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGCCTCACCTGTAAGGTTGAT	0.448																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(1996-1998)aCa>aTa		adaptor-related protein complex 1, gamma 1 subunit							91.0	91.0	91.0					16																	71779049		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71779049G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1997C>T	16.37:g.71779049G>A	ENSP00000299980:p.Thr666Ile		Somatic				AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I	p.T666I	NM_001128.5	NP_001119.3	WXS	Illumina GAIIx	Phase_I	O43747	AP1G1_HUMAN			19	2438	-		Ovarian(137;0.125)	666					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.1997C>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959972	0.34565	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.15139	2.45;2.45;2.46;2.45	5.04	5.04	0.67666	.	0.269702	0.40469	N	0.001087	T	0.11879	0.0289	N	0.14661	0.345	0.47009	D	0.999287	B;B;B	0.20261	0.043;0.023;0.041	B;B;B	0.24848	0.032;0.028;0.056	T	0.13899	-1.0492	10	0.31617	T	0.26	-3.5703	14.3833	0.66926	0.0:0.1477:0.8523:0.0	.	666;689;669	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	I	666;669;669;689	ENSP00000299980:T666I;ENSP00000377148:T669I;ENSP00000409153:T669I;ENSP00000403259:T689I	ENSP00000299980:T666I	T	-	2	0	AP1G1	70336550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.627000	0.67784	2.523000	0.85059	0.555000	0.69702	ACA		0.448	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			8	88	8	88	---	---	---	---
LRRC75A	388341	broad.mit.edu	37	17	16344431	16344431	+	IGR	SNP	C	C	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:16344431C>G	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						AGCAGCATCTCAGCCCAAGAG	0.473																																						ENST00000475953.1																			0																				112.0	104.0	107.0					17																	16344431		2203	4300	6503	SO:0001628	intergenic_variant	125144							g.chr17:16344431C>G																													17.37:g.16344431C>G			Somatic				C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA		NR_027667.1		WXS	Illumina GAIIx	Phase_I					0	527	+									RNA	SNP	ENST00000409083.3	37		CCDS11178.2																																																																																				0.473	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			29	79	29	79	---	---	---	---
RASD1	51655	broad.mit.edu	37	17	17398953	17398953	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:17398953A>G	ENST00000225688.3	-	2	543	c.332T>C	c.(331-333)tTc>tCc	p.F111S	RASD1_ENST00000579152.1_Intron	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	111					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CACCTCCTCGAAGGAGTCGCG	0.592																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(331-333)tTc>tCc		RAS, dexamethasone-induced 1							26.0	24.0	25.0					17																	17398953		2203	4300	6503	SO:0001583	missense	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17398953A>G	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.332T>C	17.37:g.17398953A>G	ENSP00000225688:p.Phe111Ser		Somatic				RASD1_ENST00000579152.1_Intron	p.F111S	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	WXS	Illumina GAIIx	Phase_I	Q9Y272	RASD1_HUMAN			2	543	-			111					B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	c.332T>C	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682543	0.88542	.	.	ENSG00000108551	ENST00000225688	D	0.82526	-1.62	4.94	4.94	0.65067	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96291	0.9214	10	0.87932	D	0	.	13.7654	0.62992	1.0:0.0:0.0:0.0	.	111	Q9Y272	RASD1_HUMAN	S	111	ENSP00000225688:F111S	ENSP00000225688:F111S	F	-	2	0	RASD1	17339678	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.107000	0.94261	1.840000	0.53500	0.533000	0.62120	TTC		0.592	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		3	28	3	28	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60887497	60887497	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr20:60887497T>G	ENST00000252999.3	-	68	9385	c.9319A>C	c.(9319-9321)Aac>Cac	p.N3107H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3107	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCTGTCGTGTTCAGCCGCTTG	0.692																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9319-9321)Aac>Cac		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	35.0	37.0					20																	60887497		2189	4293	6482	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887497T>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9319A>C	20.37:g.60887497T>G	ENSP00000252999:p.Asn3107His		Somatic					p.N3107H	NM_005560.3	NP_005551.3	WXS	Illumina GAIIx	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		68	9385	-	Breast(26;1.57e-08)		3107			Laminin G-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9319A>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.017311	0.75161	.	.	ENSG00000130702	ENST00000252999	T	0.42131	0.98	4.26	4.26	0.50523	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.276251	0.40144	N	0.001179	T	0.54822	0.1882	L	0.58101	1.795	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.58042	-0.7706	10	0.54805	T	0.06	.	13.1986	0.59754	0.0:0.0:0.0:1.0	.	3107	O15230	LAMA5_HUMAN	H	3107	ENSP00000252999:N3107H	ENSP00000252999:N3107H	N	-	1	0	LAMA5	60320892	0.268000	0.24133	1.000000	0.80357	0.902000	0.53008	0.718000	0.25866	1.794000	0.52575	0.454000	0.30748	AAC		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	9	4	9	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11049505	11049505	+	RNA	SNP	G	G	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr21:11049505G>T	ENST00000470054.1	-	0	603							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGTTTTAATGGAGTAACCGCT	0.458																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							89.0	43.0	57.0					21																	11049505		692	1580	2272			85319							g.chr21:11049505G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049505G>T			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	603	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.458	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	205	7	205	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40708548	40708548	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr22:40708548T>G	ENST00000454349.2	+	18	4686	c.4475T>G	c.(4474-4476)aTt>aGt	p.I1492S	TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S|TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S|TNRC6B_ENST00000335727.9_Missense_Mutation_p.I1382S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1492	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ATCCAAAACATTGACCCTGAA	0.448																																						ENST00000454349.2																			0				breast(1)	1						c.(4474-4476)aTt>aGt		trinucleotide repeat containing 6B							90.0	89.0	89.0					22																	40708548		2019	4199	6218	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40708548T>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4475T>G	22.37:g.40708548T>G	ENSP00000401946:p.Ile1492Ser		Somatic				TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S|TNRC6B_ENST00000335727.9_Missense_Mutation_p.I1382S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S	p.I1492S	NM_001162501.1	NP_001155973.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			18	4686	+			1492					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4475T>G	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.86|18.86	3.712923|3.712923	0.68730|0.68730	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T;T;T|.	0.36520|.	1.25;1.25;2.46;2.49|.	5.16|5.16	4.13|4.13	0.48395|0.48395	.|.	0.167085|.	0.51477|.	D|.	0.000088|.	T|T	0.50069|0.50069	0.1594|0.1594	L|L	0.40543|0.40543	1.245|1.245	0.36433|0.36433	D|D	0.865052|0.865052	D;P;P;D|.	0.58970|.	0.978;0.808;0.879;0.984|.	D;B;B;D|.	0.69479|.	0.947;0.281;0.396;0.964|.	T|T	0.53443|0.53443	-0.8438|-0.8438	10|5	0.62326|.	D|.	0.03|.	-6.9396|-6.9396	10.7404|10.7404	0.46149|0.46149	0.0:0.0747:0.0:0.9253|0.0:0.0747:0.0:0.9253	.|.	1492;1382;1382;688|.	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2|.	TNR6B_HUMAN;.;.;.|.	S|V	688;688;1492;1382;1382|1178	ENSP00000306759:I688S;ENSP00000384795:I688S;ENSP00000401946:I1492S;ENSP00000338371:I1382S|.	ENSP00000306759:I688S|.	I|L	+|+	2|1	0|2	TNRC6B|TNRC6B	39038494|39038494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.064000|5.064000	0.64338|0.64338	0.816000|0.816000	0.34421|0.34421	0.533000|0.533000	0.62120|0.62120	ATT|TTG		0.448	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				5	93	5	93	---	---	---	---
