#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_match_norm_validation_allele1	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_tumor_sample
MYSM1	114803	broad.mit.edu	37	1	59156029	59156029	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:59156029A>T	ENST00000472487.1	-	4	318	c.279T>A	c.(277-279)gaT>gaA	p.D93E	MYSM1_ENST00000493821.1_5'Flank	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	93					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TGTATTTTTTATCATCTTCCT	0.274																																						uc009wab.1		NaN																	0				skin(1)	1						c.(277-279)GAT>GAA		Myb-like, SWIRM and MPN domains 1							81.0	73.0	75.0					1																	59156029		1780	4050	5830	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59156029A>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.279T>A	1.37:g.59156029A>T	ENSP00000418734:p.Asp93Glu					MYSM1_uc001czc.2_RNA|MYSM1_uc001czd.2_Missense_Mutation_p.D93E	p.D93E	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			4	302	-	all_cancers(7;9.36e-06)		93					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.279T>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	A	3.851	-0.031893	0.07543	.	.	ENSG00000162601	ENST00000472487	T	0.20738	2.05	4.7	2.26	0.28386	.	0.904310	0.09621	N	0.777600	T	0.06462	0.0166	N	0.01874	-0.695	0.22401	N	0.999138	B	0.02656	0.0	B	0.04013	0.001	T	0.38045	-0.9679	10	0.02654	T	1	-1.6112	6.6683	0.23054	0.2943:0.4666:0.0:0.2392	.	93	Q5VVJ2	MYSM1_HUMAN	E	93	ENSP00000418734:D93E	ENSP00000418734:D93E	D	-	3	2	MYSM1	58928617	0.027000	0.19231	1.000000	0.80357	0.978000	0.69477	-0.356000	0.07661	0.250000	0.21479	0.402000	0.26972	GAT		0.274	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2		XM_055481		36	36	0	0	0	0.004878	0	36	36		
RBM15	64783	broad.mit.edu	37	1	110882341	110882341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:110882341G>A	ENST00000369784.3	+	1	1214	c.314G>A	c.(313-315)aGt>aAt	p.S105N	RBM15_ENST00000602849.1_Missense_Mutation_p.S105N|RBM15_ENST00000487146.2_Missense_Mutation_p.S105N|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	105	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGTCCAGCAGTCGAGGTGGC	0.622			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dzl.1		NaN		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(313-315)AGT>AAT		RNA binding motif protein 15							16.0	19.0	18.0					1																	110882341		2198	4284	6482	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882341G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.314G>A	1.37:g.110882341G>A	ENSP00000358799:p.Ser105Asn		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_uc001dzm.1_Missense_Mutation_p.S105N|uc001dzj.2_5'Flank	p.S105N	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	397	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	105			Gly/Ser-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.314G>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890791	0.52014	.	.	ENSG00000162775	ENST00000369784	T	0.22743	1.94	5.21	5.21	0.72293	.	0.000000	0.56097	D	0.000031	T	0.07188	0.0182	N	0.19112	0.55	0.36766	D	0.883525	B;B	0.33103	0.397;0.276	B;B	0.30943	0.122;0.057	T	0.09058	-1.0692	10	0.87932	D	0	-11.3756	11.8799	0.52568	0.0:0.1757:0.8243:0.0	.	105;105	Q96T37-3;Q96T37	.;RBM15_HUMAN	N	105	ENSP00000358799:S105N	ENSP00000358799:S105N	S	+	2	0	RBM15	110683864	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.910000	0.48766	2.706000	0.92434	0.655000	0.94253	AGT		0.622	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2		NM_022768		3	16	0	0	0	0.004672	0	3	16		
WDR3	10885	broad.mit.edu	37	1	118476014	118476014	+	Silent	SNP	T	T	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:118476014T>G	ENST00000349139.5	+	2	119	c.72T>G	c.(70-72)ggT>ggG	p.G24G	WDR3_ENST00000369441.3_Splice_Site|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	24						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GCCAAAAAGGTAATATTGTCT	0.478																																						uc010oxe.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(70-72)GGT>GGG		WD repeat-containing protein 3							205.0	163.0	177.0					1																	118476014		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118476014T>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.72T>G	1.37:g.118476014T>G						WDR3_uc001ehi.2_Splice_Site|WDR3_uc001ehh.2_Splice_Site	p.G24G	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	2	138	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	24			WD 1.			Silent	SNP	ENST00000349139.5	37	c.72T>G	CCDS898.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.034646	0.54896	.	.	ENSG00000065183	ENST00000369441	.	.	.	5.07	-2.12	0.07165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6203	0.22800	0.1731:0.6037:0.0:0.2232	.	.	.	.	.	-1	.	.	.	+	.	.	WDR3	118277537	0.999000	0.42202	0.995000	0.50966	0.997000	0.91878	0.611000	0.24268	-0.324000	0.08589	0.460000	0.39030	.		0.478	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2		NM_006784		8	47	0	0	0	0.00245	0	8	47		
BCL9	607	broad.mit.edu	37	1	147092477	147092477	+	Missense_Mutation	SNP	G	G	T	rs371225184		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:147092477G>T	ENST00000234739.3	+	8	3256	c.2516G>T	c.(2515-2517)cGc>cTc	p.R839L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	839	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCAGTTCAGCGCGGCCTGGGG	0.592			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NaN		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(2515-2517)CGC>CTC		B-cell CLL/lymphoma 9							64.0	60.0	61.0					1																	147092477		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092477G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2516G>T	1.37:g.147092477G>T	ENSP00000234739:p.Arg839Leu					BCL9_uc010ozr.1_Missense_Mutation_p.R765L	p.R839L	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	3256	+	all_hematologic(923;0.115)		839			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.2516G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730795	0.48939	.	.	ENSG00000116128	ENST00000234739	T	0.37915	1.17	5.36	5.36	0.76844	.	0.068142	0.64402	D	0.000003	T	0.21062	0.0507	L	0.27053	0.805	0.58432	D	0.99999	P;P	0.42409	0.779;0.779	B;B	0.39904	0.313;0.313	T	0.06197	-1.0840	10	0.72032	D	0.01	-3.6519	19.277	0.94036	0.0:0.0:1.0:0.0	.	839;839	Q1JQ81;O00512	.;BCL9_HUMAN	L	839	ENSP00000234739:R839L	ENSP00000234739:R839L	R	+	2	0	BCL9	145559101	1.000000	0.71417	0.974000	0.42286	0.071000	0.16799	9.657000	0.98554	2.782000	0.95742	0.655000	0.94253	CGC		0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1		NM_004326		27	54	1	0	2.47316e-13	0.003271	2.75032e-13	27	54		
LCE3D	84648	broad.mit.edu	37	1	152552220	152552220	+	Missense_Mutation	SNP	G	G	A	rs147417899		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:152552220G>A	ENST00000368787.3	-	2	249	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	65					keratinization (GO:0031424)			p.R65C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGCCTCTGGCGCCGGCATCGG	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15399	0.0		0.0	False		,,,				2504	0.0					uc001fab.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(193-195)CGC>TGC		late cornified envelope 3D		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	62.0	58.0		193	3.9	0.5	1	dbSNP_134	58	2,8596	2.2+/-6.3	0,2,4297	no	missense	LCE3D	NM_032563.1	180	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	65/93	152552220	3,13001	2203	4299	6502	SO:0001583	missense	84648				keratinization			g.chr1:152552220G>A	BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"""Late cornified envelopes"""	16615	protein-coding gene	gene with protein product		612616	"""small proline rich-like (epidermal differentiation complex) 6B"""	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.193C>T	1.37:g.152552220G>A	ENSP00000357776:p.Arg65Cys						p.R65C	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)	2	250	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65					Q3MIL1	Missense_Mutation	SNP	ENST00000368787.3	37	c.193C>T	CCDS1014.1	.	.	.	.	.	.	.	.	.	.	G	8.639	0.895448	0.17613	2.27E-4	2.33E-4	ENSG00000163202	ENST00000368787	T	0.04083	3.71	3.9	3.9	0.45041	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.24677	N	0.993381	D	0.71674	0.998	P	0.50754	0.649	T	0.21484	-1.0244	8	0.87932	D	0	.	11.5409	0.50665	0.0:0.0:1.0:0.0	.	65	Q9BYE3	LCE3D_HUMAN	C	65	ENSP00000357776:R65C	ENSP00000357776:R65C	R	-	1	0	LCE3D	150818844	0.027000	0.19231	0.502000	0.27614	0.528000	0.34623	2.563000	0.45922	2.167000	0.68274	0.655000	0.94253	CGC		0.682	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034504.1		NM_032563		42	61	0	0	0	0.013114	0	42	61		
NUP210L	91181	broad.mit.edu	37	1	153998026	153998026	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:153998026C>A	ENST00000368559.3	-	30	4185	c.4114G>T	c.(4114-4116)Ggg>Tgg	p.G1372W	NUP210L_ENST00000368553.1_Missense_Mutation_p.G305W|NUP210L_ENST00000271854.3_Missense_Mutation_p.G1372W	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1372					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACCTGGACCCCAGTTATGGTT	0.383																																						uc001fdw.2		NaN																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(4114-4116)GGG>TGG		nucleoporin 210kDa-like isoform 1							146.0	138.0	141.0					1																	153998026		1828	4082	5910	SO:0001583	missense	91181					integral to membrane		g.chr1:153998026C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4114G>T	1.37:g.153998026C>A	ENSP00000357547:p.Gly1372Trp					NUP210L_uc009woq.2_Missense_Mutation_p.G281W|NUP210L_uc010peh.1_Missense_Mutation_p.G1372W	p.G1372W	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		30	4186	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1372					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4114G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227821	0.58777	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.22945	3.49;1.93;3.24	5.8	4.9	0.64082	.	0.224065	0.31922	N	0.006843	T	0.28400	0.0702	L	0.44542	1.39	0.38752	D	0.954134	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.962	T	0.08166	-1.0735	10	0.52906	T	0.07	-25.4906	10.468	0.44620	0.0:0.8465:0.0:0.1535	.	1372;1372	E7EP56;Q5VU65	.;P210L_HUMAN	W	1372;305;1372	ENSP00000357547:G1372W;ENSP00000357541:G305W;ENSP00000271854:G1372W	ENSP00000271854:G1372W	G	-	1	0	NUP210L	152264650	0.799000	0.28903	0.986000	0.45419	0.917000	0.54804	2.442000	0.44873	1.456000	0.47831	0.655000	0.94253	GGG		0.383	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308		10	244	1	0	3.86212e-05	0.008291	4.08372e-05	10	244		
KIRREL	55243	broad.mit.edu	37	1	158064739	158064739	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:158064739C>T	ENST00000359209.6	+	15	2170	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y	KIRREL_ENST00000360089.4_Silent_p.Y537Y|KIRREL_ENST00000416935.2_Silent_p.Y601Y|KIRREL_ENST00000392272.2_Silent_p.Y598Y|KIRREL_ENST00000368173.3_Silent_p.Y717Y|KIRREL_ENST00000368172.1_Silent_p.Y515Y			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	701					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CAGCTGGGTACCCCACCTACC	0.632																																						uc001frn.3		NaN																	0				ovary(1)	1						c.(2101-2103)TAC>TAT		kin of IRRE like precursor							39.0	41.0	40.0					1																	158064739		2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158064739C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2103C>T	1.37:g.158064739C>T						KIRREL_uc010pib.1_Silent_p.Y601Y|KIRREL_uc009wsq.2_Silent_p.Y537Y|KIRREL_uc001fro.3_Silent_p.Y515Y|uc001frp.2_5'Flank	p.Y701Y	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			15	2507	+	all_hematologic(112;0.0378)		701			Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.2103C>T	CCDS1172.2																																																																																				0.632	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		NM_018240		16	28	0	0	0	0.006122	0	16	28		
SLC9C2	284525	broad.mit.edu	37	1	173499145	173499145	+	Missense_Mutation	SNP	G	G	A	rs201611790		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:173499145G>A	ENST00000367714.3	-	18	2634	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	738					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R738C(1)									AAGCTGAGGCGCTTTTTGATC	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		19864	0.001		0.0	False		,,,				2504	0.0					uc001giz.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(2212-2214)CGC>TGC		solute carrier family 9, member 11							122.0	116.0	118.0					1																	173499145		2202	4300	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173499145G>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2212C>T	1.37:g.173499145G>A	ENSP00000356687:p.Arg738Cys					SLC9A11_uc009wwe.2_Missense_Mutation_p.R296C|SLC9A11_uc010pmq.1_RNA	p.R738C	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			18	2635	-			738					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.2212C>T	CCDS1308.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.39	1.335698	0.24253	.	.	ENSG00000162753	ENST00000367714	T	0.04862	3.54	5.08	0.873	0.19118	.	0.543240	0.16612	N	0.206863	T	0.02455	0.0075	L	0.51422	1.61	0.25642	N	0.986193	D	0.58970	0.984	P	0.45232	0.474	T	0.37776	-0.9691	10	0.87932	D	0	0.1277	3.7176	0.08444	0.0877:0.2954:0.4538:0.1631	.	738	Q5TAH2	S9A11_HUMAN	C	738	ENSP00000356687:R738C	ENSP00000356687:R738C	R	-	1	0	SLC9A11	171765768	0.409000	0.25368	0.069000	0.20011	0.043000	0.13939	1.480000	0.35464	-0.088000	0.12506	-0.982000	0.02568	CGC		0.323	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1		NM_178527		30	23	0	0	0	0.008361	0	30	23		
RYR2	6262	broad.mit.edu	37	1	237947439	237947439	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:237947439A>G	ENST00000366574.2	+	90	12744	c.12427A>G	c.(12427-12429)Aaa>Gaa	p.K4143E	RYR2_ENST00000542537.1_Missense_Mutation_p.K4127E|RYR2_ENST00000360064.6_Missense_Mutation_p.K4149E|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4143					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)			GGGAAGCGCCAAACGCATCGA	0.502																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12427-12429)AAA>GAA		cardiac muscle ryanodine receptor							77.0	77.0	77.0					1																	237947439		1917	4142	6059	SO:0001583	missense	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.chr1:237947439A>G	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.12427A>G	1.37:g.237947439A>G	ENSP00000355533:p.Lys4143Glu					RYR2_uc010pya.1_Missense_Mutation_p.K558E	p.K4143E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12547	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4143					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12427A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636567	0.87760	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97850	-4.57;-4.57;-4.57	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000002	D	0.98365	0.9457	M	0.67397	2.05	0.80722	D	1	D;D	0.69078	0.997;0.987	D;P	0.78314	0.991;0.827	D	0.99761	1.1021	10	0.87932	D	0	.	15.6781	0.77344	1.0:0.0:0.0:0.0	.	1117;4143	B4DGV4;Q92736	.;RYR2_HUMAN	E	4143;4149;4127;1117	ENSP00000355533:K4143E;ENSP00000353174:K4149E;ENSP00000443798:K4127E	ENSP00000353174:K4149E	K	+	1	0	RYR2	236014062	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.287000	0.95975	2.109000	0.64355	0.533000	0.62120	AAA		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		18	24	0	0	0	0.006122	0	18	24		
TAF5	6877	broad.mit.edu	37	10	105128037	105128037	+	Silent	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr10:105128037A>G	ENST00000369839.3	+	1	314	c.291A>G	c.(289-291)ctA>ctG	p.L97L	TAF5_ENST00000351396.4_Silent_p.L97L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	97	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GACAGACTCTACTGGCCGTGC	0.751																																						uc001kwv.2		NaN																	0				ovary(2)	2						c.(289-291)CTA>CTG		TBP-associated factor 5							6.0	7.0	7.0					10																	105128037		1943	3922	5865	SO:0001819	synonymous_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105128037A>G	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.291A>G	10.37:g.105128037A>G						TAF5_uc010qqq.1_Silent_p.L97L	p.L97L	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	314	+		Colorectal(252;0.0747)|Breast(234;0.128)	97			LisH.		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	c.291A>G	CCDS7547.1																																																																																				0.751	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1				4	3	0	0	0	0.009096	0	4	3		
SEC23IP	11196	broad.mit.edu	37	10	121685711	121685711	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr10:121685711A>T	ENST00000369075.3	+	13	2357	c.2285A>T	c.(2284-2286)tAt>tTt	p.Y762F	SEC23IP_ENST00000543134.1_Missense_Mutation_p.Y551F	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	762					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTGTGAATTATGAATCTTTT	0.443																																						uc001leu.1		NaN																	0				ovary(3)	3						c.(2284-2286)TAT>TTT		Sec23-interacting protein p125							163.0	161.0	162.0					10																	121685711		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121685711A>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2285A>T	10.37:g.121685711A>T	ENSP00000358071:p.Tyr762Phe					SEC23IP_uc010qtc.1_Missense_Mutation_p.Y551F|SEC23IP_uc009xzk.1_RNA	p.Y762F	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	13	2357	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	762					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2285A>T	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679982	0.47886	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.33654	1.4;1.44	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.66939	2.045	0.80722	D	1	P;D	0.58970	0.94;0.984	P;P	0.52309	0.695;0.67	T	0.50013	-0.8877	10	0.45353	T	0.12	-15.8313	15.975	0.80057	1.0:0.0:0.0:0.0	.	551;762	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	F	762;551	ENSP00000358071:Y762F;ENSP00000438773:Y551F	ENSP00000358071:Y762F	Y	+	2	0	SEC23IP	121675701	1.000000	0.71417	0.970000	0.41538	0.486000	0.33341	8.655000	0.91098	2.181000	0.69327	0.482000	0.46254	TAT		0.443	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1				31	37	0	0	0	0.012213	0	31	37		
WDR11	55717	broad.mit.edu	37	10	122619733	122619733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr10:122619733G>C	ENST00000263461.6	+	4	711	c.465G>C	c.(463-465)aaG>aaC	p.K155N		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	463					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TATGGAAGAAGAGCTATGCAG	0.418																																						uc010qtf.1		NaN																	0					0						c.(463-465)AAG>AAC		bromodomain and WD repeat domain containing 2							114.0	98.0	103.0					10																	122619733		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619733G>C	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.465G>C	10.37:g.122619733G>C	ENSP00000263461:p.Lys155Asn					WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	p.K155N	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			4	703	+			155					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.465G>C	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790712	0.70452	.	.	ENSG00000120008	ENST00000263461	T	0.29142	1.58	5.72	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.66939	2.045	0.53005	D	0.999962	D	0.71674	0.998	D	0.76071	0.987	T	0.35226	-0.9797	10	0.35671	T	0.21	-22.8417	6.9973	0.24789	0.3694:0.0:0.6306:0.0	.	155	Q9BZH6	WDR11_HUMAN	N	155	ENSP00000263461:K155N	ENSP00000263461:K155N	K	+	3	2	WDR11	122609723	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.984000	0.40658	0.778000	0.33520	0.591000	0.81541	AAG		0.418	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2				29	36	0	0	0	0.007291	0	29	36		
OR51D1	390038	broad.mit.edu	37	11	4661919	4661919	+	Missense_Mutation	SNP	A	A	C	rs141098080	byFrequency	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:4661919A>C	ENST00000357605.2	+	1	975	c.899A>C	c.(898-900)aAc>aCc	p.N300T	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGTAGTCAACCCCCTTGTC	0.532																																						uc010qyk.1		NaN																	0					0						c.(898-900)AAC>ACC		olfactory receptor, family 51, subfamily D,							106.0	102.0	103.0					11																	4661919		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661919A>C	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.899A>C	11.37:g.4661919A>C	ENSP00000350222:p.Asn300Thr						p.N300T	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	899	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	300			Helical; Name=7; (Potential).		B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.899A>C	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004120	0.35320	.	.	ENSG00000197428	ENST00000357605	T	0.59224	0.28	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000181	D	0.83571	0.5283	H	0.97315	3.98	0.43183	D	0.995008	D	0.89917	1.0	D	0.91635	0.999	D	0.89080	0.3475	10	0.87932	D	0	.	13.4235	0.61011	1.0:0.0:0.0:0.0	.	300	Q8NGF3	O51D1_HUMAN	T	300	ENSP00000350222:N300T	ENSP00000350222:N300T	N	+	2	0	OR51D1	4618495	1.000000	0.71417	0.990000	0.47175	0.009000	0.06853	6.882000	0.75589	2.091000	0.63221	0.460000	0.39030	AAC		0.532	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1		NM_001004751		4	71	0	0	0	0.001168	0	4	71		
OR4P4	81300	broad.mit.edu	37	11	55405931	55405931	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:55405931A>G	ENST00000314612.2	+	1	98	c.98A>G	c.(97-99)tAc>tGc	p.Y33C		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTTTTGCTACATTGCTATT	0.363																																						uc010rij.1		NaN																	0				central_nervous_system(1)	1						c.(97-99)TAC>TGC		olfactory receptor, family 4, subfamily P,							136.0	123.0	128.0					11																	55405931		2182	4024	6206	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405931A>G	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.98A>G	11.37:g.55405931A>G	ENSP00000324831:p.Tyr33Cys						p.Y33C	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	98	+			33			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.98A>G	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819365	0.32145	.	.	ENSG00000181927	ENST00000314612	T	0.04706	3.57	5.02	5.02	0.67125	.	0.000000	0.37178	N	0.002207	T	0.27489	0.0675	M	0.91300	3.195	0.25690	N	0.985692	D	0.89917	1.0	D	0.79108	0.992	T	0.24548	-1.0157	10	0.72032	D	0.01	-4.5347	13.7294	0.62779	1.0:0.0:0.0:0.0	.	33	Q8NGL7	OR4P4_HUMAN	C	33	ENSP00000324831:Y33C	ENSP00000324831:Y33C	Y	+	2	0	OR4P4	55162507	0.966000	0.33281	0.028000	0.17463	0.169000	0.22640	2.690000	0.47001	1.908000	0.55244	0.509000	0.49947	TAC		0.363	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1		NM_001004124		20	7	0	0	0	0.007413	0	20	7		
CEP164	22897	broad.mit.edu	37	11	117253629	117253629	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:117253629C>T	ENST00000278935.3	+	14	1842	c.1695C>T	c.(1693-1695)gtC>gtT	p.V565V	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	565	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGTGGCGGTCAGCCCCACCC	0.622																																						uc001prc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1693-1695)GTC>GTT		centrosomal protein 164kDa							51.0	39.0	43.0					11																	117253629		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117253629C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1695C>T	11.37:g.117253629C>T						CEP164_uc001prb.2_Silent_p.V568V|CEP164_uc010rxk.1_Silent_p.V539V|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank	p.V565V	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	14	1842	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	565			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.1695C>T	CCDS31683.1																																																																																				0.622	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1		NM_014956		10	20	0	0	0	0.010729	0	10	20		
ABCG4	64137	broad.mit.edu	37	11	119025544	119025544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:119025544C>T	ENST00000449422.2	+	6	793	c.605C>T	c.(604-606)tCt>tTt	p.S202F	ABCG4_ENST00000531739.1_Missense_Mutation_p.S202F|ABCG4_ENST00000307417.3_Missense_Mutation_p.S202F	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	202	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S202Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCTGCTCTCTGGCGGGCAG	0.622																																						uc001pvs.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(604-606)TCT>TTT		ATP-binding cassette, subfamily G, member 4							117.0	109.0	112.0					11																	119025544		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119025544C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.605C>T	11.37:g.119025544C>T	ENSP00000406874:p.Ser202Phe					ABCG4_uc009zar.2_Missense_Mutation_p.S202F	p.S202F	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	941	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	202			Cytoplasmic (Potential).|ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.605C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398875	0.83120	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.74106	-0.81;-0.81;-0.81	5.11	4.13	0.48395	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.167823	0.56097	D	0.000040	D	0.92586	0.7645	H	0.99900	4.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.72982	0.979	D	0.95447	0.8531	10	0.87932	D	0	-26.1318	14.3175	0.66463	0.1491:0.8509:0.0:0.0	.	202	Q9H172	ABCG4_HUMAN	F	202	ENSP00000304111:S202F;ENSP00000406874:S202F;ENSP00000434318:S202F	ENSP00000304111:S202F	S	+	2	0	ABCG4	118530754	1.000000	0.71417	0.962000	0.40283	0.870000	0.49936	5.989000	0.70587	2.386000	0.81285	0.491000	0.48974	TCT		0.622	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1		NM_022169		64	90	0	0	0	0.01441	0	64	90		
KRT84	3890	broad.mit.edu	37	12	52777464	52777464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:52777464C>T	ENST00000257951.3	-	2	731	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	222	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACTGCCTCCGCAGGTTGGT	0.542																																						uc001sah.1		NaN																	0				skin(1)	1						c.(664-666)CGG>CAG		keratin, hair, basic, 4							72.0	68.0	69.0					12																	52777464		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52777464C>T	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.665G>A	12.37:g.52777464C>T	ENSP00000257951:p.Arg222Gln						p.R222Q	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	713	-	all_hematologic(5;0.12)		222			Rod.|Coil 1B.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.665G>A	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630519	0.67015	.	.	ENSG00000161849	ENST00000257951	D	0.92595	-3.07	5.32	2.45	0.29901	Filament (1);	0.154193	0.30565	N	0.009351	D	0.88466	0.6444	M	0.72576	2.205	0.28384	N	0.919386	P	0.46142	0.873	B	0.35510	0.204	T	0.82686	-0.0334	10	0.66056	D	0.02	.	10.0891	0.42436	0.0:0.6537:0.0:0.3463	.	222	Q9NSB2	KRT84_HUMAN	Q	222	ENSP00000257951:R222Q	ENSP00000257951:R222Q	R	-	2	0	KRT84	51063731	0.016000	0.18221	0.979000	0.43373	0.467000	0.32768	0.939000	0.28978	0.458000	0.26988	0.655000	0.94253	CGG		0.542	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1		NM_033045		66	75	0	0	0	0.01441	0	66	75		
HNRNPA1	3178	broad.mit.edu	37	12	54675636	54675636	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:54675636A>G	ENST00000340913.6	+	3	243	c.190A>G	c.(190-192)Act>Gct	p.T64A	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.T64A|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.T64A|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.T64A|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	64	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CACATATGCCACTGTGGAGGA	0.483																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2		NaN																	0				skin(2)|ovary(1)	3						c.(190-192)ACT>GCT		heterogeneous nuclear ribonucleoprotein A1							45.0	45.0	45.0					12																	54675636		2059	4200	6259	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675636A>G	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.190A>G	12.37:g.54675636A>G	ENSP00000341826:p.Thr64Ala					CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.T64A|HNRNPA1_uc009zng.2_Missense_Mutation_p.T64A|HNRNPA1_uc009znh.2_Missense_Mutation_p.T64A|HNRNPA1_uc009zni.2_Missense_Mutation_p.T64A|HNRNPA1_uc001sfn.2_Missense_Mutation_p.T64A|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.T19A|HNRNPA1_uc009znj.1_Missense_Mutation_p.T19A	p.T64A	NM_031157	NP_112420	P09651	ROA1_HUMAN			3	294	+			64			Globular A domain.|RRM 1.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.190A>G	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363170	0.41902	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	D;D;D;D;D;D;T	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;2.93	3.81	3.81	0.43845	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.110919	0.38436	N	0.001687	T	0.79919	0.4529	L	0.37561	1.115	0.37074	D	0.89867	P;B;B;B;B;B;B;B	0.36354	0.549;0.243;0.267;0.07;0.012;0.0;0.267;0.16	B;B;B;B;B;B;B;B	0.39119	0.291;0.142;0.142;0.038;0.013;0.012;0.142;0.093	T	0.78853	-0.2040	10	0.33141	T	0.24	.	6.982	0.24708	0.796:0.0:0.0:0.204	.	42;64;64;64;64;64;64;64	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;F8VXY0;P09651-3;P09651-2;P09651	.;.;.;.;.;.;.;ROA1_HUMAN	A	64;64;64;64;64;64;64;64;64;83;19	ENSP00000448617:T64A;ENSP00000448229:T64A;ENSP00000341826:T64A;ENSP00000333504:T64A;ENSP00000447260:T64A;ENSP00000447782:T83A;ENSP00000448917:T19A	ENSP00000333504:T64A	T	+	1	0	HNRNPA1	52961903	0.038000	0.19896	0.996000	0.52242	0.724000	0.41520	2.180000	0.42537	1.698000	0.51180	0.260000	0.18958	ACT		0.483	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1		NM_031157		50	49	0	0	0	0.01441	0	50	49		
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:56478854G>T	ENST00000267101.3	+	3	750	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104L|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																						uc001sjh.2		NaN																	9	Substitution - Missense(9)	p.V104M(1)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(310-312)GTG>TTG		erbB-3 isoform 1 precursor							186.0	159.0	168.0					12																	56478854		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56478854G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>T	12.37:g.56478854G>T	ENSP00000267101:p.Val104Leu					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45L|ERBB3_uc001sjg.2_Missense_Mutation_p.V104L	p.V104L	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	503	+			104		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).	Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.310G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.745072	0.30865	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	N	0.000573	T	0.67050	0.2852	N	0.25825	0.765	0.80722	D	1	B;P	0.42483	0.282;0.781	B;B	0.35859	0.149;0.212	T	0.69003	-0.5260	10	0.49607	T	0.09	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	L	104;45;104;104;104;45;45	ENSP00000448636:V104L;ENSP00000449138:V45L;ENSP00000267101:V104L;ENSP00000415753:V104L;ENSP00000449713:V45L;ENSP00000408340:V45L	ENSP00000267101:V104L	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				94	135	1	0	3.60193e-44	0.01441	4.42522e-44	94	135		
STAC3	246329	broad.mit.edu	37	12	57637894	57637894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:57637894G>A	ENST00000332782.2	-	11	1174	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	STAC3_ENST00000554578.1_Nonsense_Mutation_p.Q286*|STAC3_ENST00000546246.2_Nonsense_Mutation_p.Q139*	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	325	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						AGAGTGATCTGCCCTATCTCG	0.562											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001snp.2		NaN																	0				ovary(2)|skin(1)	3						c.(973-975)CAG>TAG		SH3 and cysteine rich domain 3							80.0	75.0	77.0					12																	57637894		2203	4300	6503	SO:0001587	stop_gained	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57637894G>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.973C>T	12.37:g.57637894G>A	ENSP00000329200:p.Gln325*		OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024	STAC3_uc009zpl.2_Missense_Mutation_p.A42V|STAC3_uc001snq.2_Nonsense_Mutation_p.Q286*|STAC3_uc010srm.1_Nonsense_Mutation_p.Q139*	p.Q325*	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			11	1168	-			325			SH3 2.		B4DUK9|Q96HU5	Nonsense_Mutation	SNP	ENST00000332782.2	37	c.973C>T	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	G	38	6.645455	0.97730	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000546246	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-34.78	18.0468	0.89335	0.0:0.0:1.0:0.0	.	.	.	.	X	286;325;139	.	ENSP00000329200:Q325X	Q	-	1	0	STAC3	55924161	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.537000	0.98070	2.639000	0.89480	0.655000	0.94253	CAG		0.562	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2		NM_145064		20	30	0	0	0	0.014323	0	20	30		
NR2C1	7181	broad.mit.edu	37	12	95434302	95434302	+	Silent	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:95434302C>A	ENST00000333003.5	-	10	1533	c.1203G>T	c.(1201-1203)ctG>ctT	p.L401L	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Silent_p.L401L|NR2C1_ENST00000393101.3_Silent_p.L401L	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	401					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TTGATAAGAACAGCAGTCTGG	0.423																																						uc001tdm.3		NaN																	0				ovary(1)	1						c.(1201-1203)CTG>CTT		nuclear receptor subfamily 2, group C, member 1							123.0	103.0	110.0					12																	95434302		2203	4300	6503	SO:0001819	synonymous_variant	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95434302C>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1203G>T	12.37:g.95434302C>A						NR2C1_uc010suu.1_Silent_p.L401L|NR2C1_uc001tdo.3_Silent_p.L401L|NR2C1_uc001tdn.3_Silent_p.L401L	p.L401L	NM_003297	NP_003288	P13056	NR2C1_HUMAN			10	1459	-			401					A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	c.1203G>T	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	6.841	0.524415	0.13066	.	.	ENSG00000120798	ENST00000551647	.	.	.	6.06	4.12	0.48240	.	.	.	.	.	T	0.56673	0.2001	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54221	-0.8326	4	.	.	.	.	7.4504	0.27235	0.1145:0.5948:0.2216:0.069	.	.	.	.	F	25	.	.	V	-	1	0	NR2C1	93958433	0.993000	0.37304	1.000000	0.80357	0.652000	0.38707	0.439000	0.21575	1.557000	0.49525	-0.176000	0.13171	GTT		0.423	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2		NM_003297		32	40	1	0	9.65021e-13	0.010818	1.064e-12	32	40		
FREM2	341640	broad.mit.edu	37	13	39420751	39420751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr13:39420751G>A	ENST00000280481.7	+	7	6277	c.6061G>A	c.(6061-6063)Gag>Aag	p.E2021K	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2021	Calx-beta 3.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCTGTGGATGAGAGTGCTGG	0.433																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(6061-6063)GAG>AAG		FRAS1-related extracellular matrix protein 2							155.0	142.0	146.0					13																	39420751		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39420751G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6061G>A	13.37:g.39420751G>A	ENSP00000280481:p.Glu2021Lys					FREM2_uc001uww.2_Missense_Mutation_p.E107K	p.E2021K	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	7	6370	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2021			Extracellular (Potential).|Calx-beta 3.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6061G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259414	0.80246	.	.	ENSG00000150893	ENST00000280481	T	0.58210	0.35	5.33	5.33	0.75918	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.89158	0.3528	10	0.87932	D	0	.	19.3838	0.94548	0.0:0.0:1.0:0.0	.	2021;2021	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	K	2021	ENSP00000280481:E2021K	ENSP00000280481:E2021K	E	+	1	0	FREM2	38318751	1.000000	0.71417	0.909000	0.35828	0.043000	0.13939	9.813000	0.99286	2.670000	0.90874	0.655000	0.94253	GAG		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		11	19	0	0	0	0.010729	0	11	19		
LPAR6	10161	broad.mit.edu	37	13	48986079	48986079	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr13:48986079C>G	ENST00000378434.4	-	7	2105	c.481G>C	c.(481-483)Ggt>Cgt	p.G161R	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.G161R	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GCATTGTTACCCTGAGAGTGG	0.418																																						uc010acu.2		NaN																	19	Whole gene deletion(15)|Unknown(4)	p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	ovary(4)	4						c.(481-483)GGT>CGT		G-protein coupled purinergic receptor P2Y5							30.0	32.0	32.0					13																	48986079		2201	4300	6501	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48986079C>G	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.481G>C	13.37:g.48986079C>G	ENSP00000367691:p.Gly161Arg					RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.G161R|LPAR6_uc001vcf.2_Missense_Mutation_p.G161R	p.G161R	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN			1	1575	-			161			Extracellular (Potential).		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.481G>C	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	C	2.539	-0.306657	0.05458	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.71579	-0.58;-0.58	5.64	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.585132	0.18848	N	0.129479	T	0.46946	0.1419	N	0.04686	-0.185	0.09310	N	1	B	0.24043	0.096	B	0.27076	0.076	T	0.32693	-0.9897	10	0.15499	T	0.54	.	9.1514	0.36965	0.0:0.6427:0.2792:0.0781	.	161	P43657	LPAR6_HUMAN	R	161	ENSP00000367691:G161R;ENSP00000344353:G161R	ENSP00000344353:G161R	G	-	1	0	LPAR6	47884080	0.000000	0.05858	0.195000	0.23364	0.934000	0.57294	1.095000	0.30964	1.472000	0.48140	0.591000	0.81541	GGT		0.418	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2		NM_005767		5	5	0	0	0	0.000602	0	5	5		
MYH7	4625	broad.mit.edu	37	14	23897051	23897051	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr14:23897051G>A	ENST00000355349.3	-	16	1793	c.1631C>T	c.(1630-1632)aCc>aTc	p.T544I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	544	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGTCATGTCGGTGGCCTTGGG	0.552																																						uc001wjx.2		NaN																	0				ovary(3)|skin(1)	4						c.(1630-1632)ACC>ATC		myosin, heavy chain 7, cardiac muscle, beta							182.0	138.0	153.0					14																	23897051		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23897051G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1631C>T	14.37:g.23897051G>A	ENSP00000347507:p.Thr544Ile						p.T544I	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	16	1737	-	all_cancers(95;2.54e-05)		544			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1631C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025167	0.35701	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.96168	-3.93	4.86	4.86	0.63082	Myosin head, motor domain (2);	.	.	.	.	D	0.98235	0.9416	H	0.99746	4.745	0.23909	N	0.996497	B	0.24675	0.109	B	0.39805	0.31	D	0.94382	0.7605	9	0.62326	D	0.03	.	13.7398	0.62840	0.0:0.2768:0.7232:0.0	.	544	P12883	MYH7_HUMAN	I	544	ENSP00000347507:T544I	ENSP00000347507:T544I	T	-	2	0	MYH7	22966891	0.900000	0.30661	0.949000	0.38748	0.729000	0.41735	2.382000	0.44345	2.692000	0.91855	0.563000	0.77884	ACC		0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		40	67	0	0	0	0.00623	0	40	67		
EHD4	30844	broad.mit.edu	37	15	42211817	42211817	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr15:42211817T>C	ENST00000220325.4	-	4	598	c.515A>G	c.(514-516)tAt>tGt	p.Y172C	CTD-2382E5.4_ENST00000564168.1_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	172	Dynamin-type G.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCAGAAGTCATAGCCTGGGTG	0.562																																						uc001zot.2		NaN																	0				ovary(2)	2						c.(514-516)TAT>TGT		EH-domain containing 4							37.0	37.0	37.0					15																	42211817		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42211817T>C	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.515A>G	15.37:g.42211817T>C	ENSP00000220325:p.Tyr172Cys						p.Y172C	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	4	578	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	172					Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.515A>G	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099413	0.76983	.	.	ENSG00000103966	ENST00000220325	D	0.95554	-3.74	5.04	5.04	0.67666	Dynamin, GTPase domain (1);	0.116085	0.64402	D	0.000010	D	0.97501	0.9182	M	0.87758	2.905	0.80722	D	1	D	0.53151	0.958	P	0.60012	0.867	D	0.98321	1.0528	10	0.87932	D	0	-10.9264	14.9597	0.71147	0.0:0.0:0.0:1.0	.	172	Q9H223	EHD4_HUMAN	C	172	ENSP00000220325:Y172C	ENSP00000220325:Y172C	Y	-	2	0	EHD4	39999109	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.868000	0.87116	2.126000	0.65437	0.533000	0.62120	TAT		0.562	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2		NM_139265		20	22	0	0	0	0.014323	0	20	22		
TSC2	7249	broad.mit.edu	37	16	2121804	2121804	+	Nonsense_Mutation	SNP	G	G	T	rs137854104		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:2121804G>T	ENST00000219476.3	+	19	2596	c.1966G>T	c.(1966-1968)Gag>Tag	p.E656*	TSC2_ENST00000439673.2_Nonsense_Mutation_p.E619*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.E656*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.E656*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.E607*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.E667*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.E656*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	656					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GAGAGGCTCTGAGAAGAAGAC	0.667			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2		NaN	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			0				central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(1966-1968)GAG>TAG		tuberous sclerosis 2 isoform 1							11.0	13.0	12.0					16																	2121804		2188	4294	6482	SO:0001587	stop_gained	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2121804G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1966G>T	16.37:g.2121804G>T	ENSP00000219476:p.Glu656*					TSC2_uc010bsd.2_Nonsense_Mutation_p.E656*|TSC2_uc002coo.2_Nonsense_Mutation_p.E656*|TSC2_uc010uvv.1_Nonsense_Mutation_p.E619*|TSC2_uc010uvw.1_Nonsense_Mutation_p.E607*|TSC2_uc002cop.2_Nonsense_Mutation_p.E456*	p.E656*	NM_000548	NP_000539	P49815	TSC2_HUMAN			19	2072	+		Hepatocellular(780;0.0202)	656					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	ENST00000219476.3	37	c.1966G>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	37	6.553241	0.97658	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.45	5.45	0.79879	.	0.053342	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-26.5612	17.4582	0.87613	0.0:0.0:1.0:0.0	.	.	.	.	X	656;656;656;619;607;656	.	ENSP00000219476:E656X	E	+	1	0	TSC2	2061805	1.000000	0.71417	0.956000	0.39512	0.588000	0.36517	9.153000	0.94687	2.551000	0.86045	0.462000	0.41574	GAG		0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2		NM_000548		5	12	1	0	0.000602214	0.000602	0.000631591	5	12		
XPO6	23214	broad.mit.edu	37	16	28112860	28112860	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:28112860G>A	ENST00000304658.5	-	23	3695	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	XPO6_ENST00000565698.1_Silent_p.F1051F	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1065					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACTCTGGGAGGAAGGCGGCAA	0.542																																						uc002dpa.1		NaN																	0				ovary(1)|skin(1)	2						c.(3193-3195)TTC>TTT		exportin 6							68.0	72.0	71.0					16																	28112860		2029	4185	6214	SO:0001819	synonymous_variant	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28112860G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.3195C>T	16.37:g.28112860G>A						XPO6_uc002dpb.1_Silent_p.F1051F|XPO6_uc010vcp.1_Silent_p.F1064F	p.F1065F	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			23	3696	-			1065					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	c.3195C>T	CCDS42135.1																																																																																				0.542	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1		XM_055195		34	51	0	0	0	0.013726	0	34	51		
NETO2	81831	broad.mit.edu	37	16	47163140	47163140	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:47163140A>G	ENST00000562435.1	-	3	611	c.227T>C	c.(226-228)tTg>tCg	p.L76S	NETO2_ENST00000303155.5_Missense_Mutation_p.L76S	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	76	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				AATACCTTCCAAAATGTAGAT	0.348										HNSCC(25;0.065)																												uc002eer.1		NaN																	0					0						c.(226-228)TTG>TCG		neuropilin- and tolloid-like protein 2							125.0	128.0	127.0					16																	47163140		2202	4300	6502	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47163140A>G	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.227T>C	16.37:g.47163140A>G	ENSP00000455169:p.Leu76Ser	HNSCC(25;0.065)				NETO2_uc010vgf.1_5'Flank|NETO2_uc002ees.1_Missense_Mutation_p.L76S	p.L76S	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN			3	612	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	76			Extracellular (Potential).|CUB 1.		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.227T>C	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681935	0.88542	.	.	ENSG00000171208	ENST00000303155	T	0.37058	1.22	6.03	6.03	0.97812	CUB (5);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.79242	-0.1884	10	0.87932	D	0	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	76;76	Q32NC3;Q8NC67	.;NETO2_HUMAN	S	76	ENSP00000306726:L76S	ENSP00000306726:L76S	L	-	2	0	NETO2	45720641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.179000	0.94861	2.302000	0.77476	0.533000	0.62120	TTG		0.348	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2		NM_018092		44	60	0	0	0	0.013114	0	44	60		
SF3B3	23450	broad.mit.edu	37	16	70594445	70594445	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:70594445G>A	ENST00000302516.5	+	16	2295	c.2084G>A	c.(2083-2085)gGg>gAg	p.G695E		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	695					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CGGTACCTGGGGTCCCGTCCT	0.532																																						uc002ezf.2		NaN																	0				ovary(1)	1						c.(2083-2085)GGG>GAG		splicing factor 3b, subunit 3							134.0	116.0	122.0					16																	70594445		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70594445G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2084G>A	16.37:g.70594445G>A	ENSP00000305790:p.Gly695Glu						p.G695E	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			16	2295	+		Ovarian(137;0.0694)	695					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.2084G>A	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	36	5.706965	0.96821	.	.	ENSG00000189091	ENST00000302516	T	0.73575	-0.76	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.90920	0.7146	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92232	0.5793	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	695	Q15393	SF3B3_HUMAN	E	695	ENSP00000305790:G695E	ENSP00000305790:G695E	G	+	2	0	SF3B3	69151946	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.807000	0.99171	2.882000	0.98803	0.655000	0.94253	GGG		0.532	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426		47	49	0	0	0	0.01441	0	47	49		
CDH13	1012	broad.mit.edu	37	16	83636094	83636094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:83636094G>C	ENST00000566620.1	+	8	1286	c.996G>C	c.(994-996)gaG>gaC	p.E332D	CDH13_ENST00000268613.10_Missense_Mutation_p.E379D|CDH13_ENST00000428848.3_Missense_Mutation_p.E293D	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	332	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGATCATCGAGGCTCAAGATA	0.418																																						uc002fgx.2		NaN																	0				large_intestine(1)	1						c.(994-996)GAG>GAC		cadherin 13 preproprotein							247.0	251.0	250.0					16																	83636094		1947	4157	6104	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83636094G>C	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.996G>C	16.37:g.83636094G>C	ENSP00000454435:p.Glu332Asp					CDH13_uc010vns.1_Missense_Mutation_p.E379D|CDH13_uc010vnt.1_Missense_Mutation_p.E78D|CDH13_uc010vnu.1_Missense_Mutation_p.E293D	p.E332D	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	8	1116	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	332			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.996G>C	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577690	0.65878	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.61627	0.09	6.01	0.534	0.17127	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.56819	0.2011	L	0.54965	1.715	0.80722	D	1	B;B;D	0.55385	0.42;0.233;0.971	B;P;P	0.50754	0.445;0.649;0.571	T	0.57700	-0.7766	9	0.87932	D	0	.	8.0776	0.30726	0.6834:0.0:0.3166:0.0	.	293;379;332	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	D	379;332;293;34;22	ENSP00000268613:E379D	ENSP00000268613:E379D	E	+	3	2	CDH13	82193595	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	0.186000	0.16978	0.211000	0.20683	-0.312000	0.09012	GAG		0.418	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1		NM_001257		55	102	0	0	0	0.01441	0	55	102		
CARD14	79092	broad.mit.edu	37	17	78166305	78166305	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:78166305A>G	ENST00000573882.1	+	11	1779	c.1243A>G	c.(1243-1245)Aag>Gag	p.K415E	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.K178E|CARD14_ENST00000570421.1_Missense_Mutation_p.K415E|CARD14_ENST00000344227.2_Missense_Mutation_p.K415E			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	415					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTGGCAGCTCAAGCAGGAAGC	0.607																																						uc002jxw.1		NaN																	0				ovary(4)|skin(1)	5						c.(1243-1245)AAG>GAG		caspase recruitment domain protein 14 isoform 1							58.0	58.0	58.0					17																	78166305		2203	4299	6502	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78166305A>G	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1243A>G	17.37:g.78166305A>G	ENSP00000458715:p.Lys415Glu					CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.K415E|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.K178E|CARD14_uc010dhu.1_Missense_Mutation_p.K213E	p.K415E	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		9	1438	+	all_neural(118;0.0952)		415					B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.1243A>G	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	A	3.559	-0.090051	0.07053	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.34072	1.38;1.38	3.78	1.41	0.22369	.	3.552860	0.00802	N	0.001424	T	0.29914	0.0748	L	0.46157	1.445	0.09310	N	1	B;B;B	0.34241	0.267;0.444;0.004	B;B;B	0.28011	0.04;0.085;0.003	T	0.10683	-1.0619	10	0.36615	T	0.2	-12.0005	3.7736	0.08652	0.6579:0.2206:0.1215:0.0	.	415;178;415	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	E	415;178;178	ENSP00000344549:K415E;ENSP00000376229:K178E	ENSP00000308507:K178E	K	+	1	0	CARD14	75780900	0.002000	0.14202	0.081000	0.20488	0.132000	0.20833	-0.224000	0.09164	0.056000	0.16144	-0.290000	0.09829	AAG		0.607	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1				31	59	0	0	0	0.006999	0	31	59		
AATK	9625	broad.mit.edu	37	17	79095182	79095182	+	Missense_Mutation	SNP	C	C	T	rs375510759		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:79095182C>T	ENST00000326724.4	-	11	2578	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	AATK_ENST00000417379.1_Missense_Mutation_p.E749K	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	852					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCTCCACCTCGGGAGAGCTG	0.667																																						uc010dia.2		NaN																	0				stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(2554-2556)GAG>AAG		apoptosis-associated tyrosine kinase		C	LYS/GLU,LYS/GLU	0,4214		0,0,2107	19.0	25.0	23.0		2554,2245	4.5	0.0	17		23	1,8443		0,1,4221	no	missense,missense	AATK	NM_001080395.2,NM_004920.2	56,56	0,1,6328	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging,possibly-damaging	852/1375,749/1272	79095182	1,12657	2107	4222	6329	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79095182C>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2554G>A	17.37:g.79095182C>T	ENSP00000324196:p.Glu852Lys					AATK_uc010dhz.2_RNA	p.E852K	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	2634	-	all_neural(118;0.101)		852					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.2554G>A	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874209	0.72180	0.0	1.18E-4	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.81415	-1.12;-1.49	4.47	4.47	0.54385	.	1.462860	0.04446	N	0.371701	T	0.76133	0.3945	L	0.60455	1.87	0.09310	N	1	P	0.47253	0.892	B	0.30251	0.113	T	0.66818	-0.5827	10	0.34782	T	0.22	.	14.0503	0.64732	0.0:1.0:0.0:0.0	.	852	Q6ZMQ8	LMTK1_HUMAN	K	852;816	ENSP00000324196:E852K;ENSP00000363924:E816K	ENSP00000324196:E852K	E	-	1	0	AATK	76709777	0.054000	0.20591	0.004000	0.12327	0.001000	0.01503	2.479000	0.45197	2.036000	0.60181	0.462000	0.41574	GAG		0.667	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1		NM_004920		11	6	0	0	0	0.008291	0	11	6		
LAMA1	284217	broad.mit.edu	37	18	6961676	6961676	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr18:6961676A>C	ENST00000389658.3	-	53	7628	c.7535T>G	c.(7534-7536)gTa>gGa	p.V2512G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2512	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGCAAATGTTACCAGCCATTC	0.552																																						uc002knm.2		NaN																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(7534-7536)GTA>GGA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						69.0	59.0	62.0					18																	6961676		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6961676A>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7535T>G	18.37:g.6961676A>C	ENSP00000374309:p.Val2512Gly					LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.V1988G	p.V2512G	NM_005559	NP_005550	P25391	LAMA1_HUMAN			53	7629	-		Colorectal(10;0.172)	2512			Laminin G-like 3.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7535T>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	8.899	0.955904	0.18507	.	.	ENSG00000101680	ENST00000389658	T	0.80123	-1.34	5.75	0.633	0.17712	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.626887	0.16193	N	0.225295	T	0.69251	0.3090	L	0.36672	1.1	0.36418	D	0.864149	B	0.28233	0.204	B	0.24701	0.055	T	0.65768	-0.6088	10	0.66056	D	0.02	.	9.2001	0.37254	0.4591:0.0:0.5409:0.0	.	2512	P25391	LAMA1_HUMAN	G	2512	ENSP00000374309:V2512G	ENSP00000374309:V2512G	V	-	2	0	LAMA1	6951676	0.384000	0.25164	0.850000	0.33497	0.199000	0.23934	0.434000	0.21494	0.042000	0.15717	-0.242000	0.12053	GTA		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		4	20	0	0	0	0.006214	0	4	20		
GAREM	64762	broad.mit.edu	37	18	29867460	29867460	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr18:29867460T>A	ENST00000269209.6	-	4	1103	c.1100A>T	c.(1099-1101)cAc>cTc	p.H367L	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000399218.4_Missense_Mutation_p.H367L|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	367					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										ATTGGGCACGTGGTTGTGGCC	0.552																																						uc002kxl.2		NaN																	0				ovary(1)|skin(1)	2						c.(1099-1101)CAC>CTC		family with sequence similarity 59, member A							96.0	96.0	96.0					18																	29867460		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29867460T>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1100A>T	18.37:g.29867460T>A	ENSP00000269209:p.His367Leu					FAM59A_uc002kxk.1_Missense_Mutation_p.H367L	p.H367L	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			4	1156	-			367					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.1100A>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.148435	0.57151	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.14144	2.53;2.53	5.55	5.55	0.83447	.	0.045522	0.85682	D	0.000000	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	P;P	0.49090	0.919;0.822	P;B	0.45343	0.477;0.268	T	0.39761	-0.9598	10	0.13470	T	0.59	-23.9672	15.9727	0.80034	0.0:0.0:0.0:1.0	.	367;367	Q9H706;Q9H706-3	FA59A_HUMAN;.	L	367	ENSP00000382165:H367L;ENSP00000269209:H367L	ENSP00000269209:H367L	H	-	2	0	FAM59A	28121458	0.985000	0.35326	0.955000	0.39395	0.854000	0.48673	3.571000	0.53841	2.238000	0.73509	0.459000	0.35465	CAC		0.552	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1		NM_022751		31	42	0	0	0	0.003271	0	31	42		
PIP5K1C	23396	broad.mit.edu	37	19	3664824	3664824	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:3664824T>C	ENST00000335312.3	-	3	303	c.215A>G	c.(214-216)aAg>aGg	p.K72R	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.K72R|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.K72R|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.K72R	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	72					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGAACCTTCTTGTAGGTGGT	0.642																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	uc002lyj.1		NaN																	0				stomach(2)|skin(2)	4						c.(214-216)AAG>AGG		phosphatidylinositol-4-phosphate 5-kinase, type							106.0	92.0	97.0					19																	3664824		2203	4300	6503	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3664824T>C	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.215A>G	19.37:g.3664824T>C	ENSP00000335333:p.Lys72Arg					PIP5K1C_uc010xhq.1_Missense_Mutation_p.K72R|PIP5K1C_uc010xhr.1_Missense_Mutation_p.K72R	p.K72R	NM_012398	NP_036530	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	3	272	-		Hepatocellular(1079;0.137)	72					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.215A>G	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.788902	0.90367	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.32272	1.46;1.46;1.46	4.58	4.58	0.56647	.	0.052871	0.64402	U	0.000001	T	0.56761	0.2007	M	0.80616	2.505	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.63404	-0.6645	10	0.87932	D	0	-27.54	13.0972	0.59200	0.0:0.0:0.0:1.0	.	72;72	O60331-3;O60331	.;PI51C_HUMAN	R	72	ENSP00000335333:K72R;ENSP00000445992:K72R;ENSP00000444779:K72R	ENSP00000335333:K72R	K	-	2	0	PIP5K1C	3615824	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	7.589000	0.82641	1.706000	0.51276	0.402000	0.26972	AAG		0.642	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2		NM_012398		66	91	0	0	0	0.01441	0	66	91		
MUC16	94025	broad.mit.edu	37	19	9063340	9063340	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:9063340C>T	ENST00000397910.4	-	3	24309	c.24106G>A	c.(24106-24108)Gaa>Aaa	p.E8036K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8038	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGTATTTCAACTGAGGTG	0.463																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24106-24108)GAA>AAA		mucin 16							132.0	122.0	125.0					19																	9063340		1941	4145	6086	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063340C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24106G>A	19.37:g.9063340C>T	ENSP00000381008:p.Glu8036Lys						p.E8036K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24310	-			8038			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24106G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.687	0.906412	0.17833	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	2.96	0.254	0.15557	.	.	.	.	.	T	0.24967	0.0606	L	0.59436	1.845	.	.	.	B	0.22983	0.078	B	0.20767	0.031	T	0.32745	-0.9895	8	0.87932	D	0	.	2.4126	0.04428	0.0:0.375:0.2934:0.3317	.	8036	B5ME49	.	K	8036	ENSP00000381008:E8036K	ENSP00000381008:E8036K	E	-	1	0	MUC16	8924340	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.617000	0.05584	0.054000	0.16065	0.404000	0.27445	GAA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		25	49	0	0	0	0.005443	0	25	49		
DCAF15	90379	broad.mit.edu	37	19	14070852	14070852	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:14070852C>T	ENST00000254337.6	+	10	1518	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	499					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCTGGCCTTCCCGTCCCCCA	0.657											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mxt.2		NaN																	0				central_nervous_system(1)	1						c.(1495-1497)TTC>TTT		DDB1 and CUL4 associated factor 15							67.0	58.0	61.0					19																	14070852		2203	4300	6503	SO:0001819	synonymous_variant	90379							g.chr19:14070852C>T	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1497C>T	19.37:g.14070852C>T			OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692	DCAF15_uc002mxu.2_RNA	p.F499F	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			10	1503	+			499					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.1497C>T	CCDS32926.1																																																																																				0.657	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1		NM_138353		24	25	0	0	0	0.004656	0	24	25		
TSHZ3	57616	broad.mit.edu	37	19	31770348	31770348	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:31770348C>A	ENST00000240587.4	-	2	678	c.351G>T	c.(349-351)caG>caT	p.Q117H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	117					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGGCCTTCATCTGCTCCAGGC	0.552																																						uc002nsy.3		NaN																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(349-351)CAG>CAT		zinc finger protein 537							125.0	129.0	128.0					19																	31770348		2176	4278	6454	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770348C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.351G>T	19.37:g.31770348C>A	ENSP00000240587:p.Gln117His						p.Q117H	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	416	-	Esophageal squamous(110;0.226)		117					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.351G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792071	0.50102	.	.	ENSG00000121297	ENST00000240587	T	0.13657	2.57	5.77	5.77	0.91146	.	0.155495	0.43110	U	0.000615	T	0.19725	0.0474	L	0.55990	1.75	0.53005	D	0.999967	P	0.50943	0.94	P	0.48030	0.564	T	0.00219	-1.1907	10	0.66056	D	0.02	-23.6255	10.9921	0.47555	0.0:0.8877:0.0:0.1123	.	117	Q63HK5	TSH3_HUMAN	H	117	ENSP00000240587:Q117H	ENSP00000240587:Q117H	Q	-	3	2	TSHZ3	36462188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.657000	0.54474	2.701000	0.92244	0.650000	0.86243	CAG		0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856		42	50	1	0	1.00001e-27	0.009718	1.21699e-27	42	50		
SUPT5H	6829	broad.mit.edu	37	19	39950550	39950550	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:39950550A>T	ENST00000599117.1	+	11	941	c.574A>T	c.(574-576)Acg>Tcg	p.T192S	SUPT5H_ENST00000359191.6_Missense_Mutation_p.T188S|SUPT5H_ENST00000402194.2_Missense_Mutation_p.T188S|SUPT5H_ENST00000432763.2_Missense_Mutation_p.T192S|SUPT5H_ENST00000598725.1_Missense_Mutation_p.T192S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	192	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAACGGGCCACGGCCATTTC	0.547																																						uc002olo.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(574-576)ACG>TCG		suppressor of Ty 5 homolog isoform a							96.0	84.0	88.0					19																	39950550		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39950550A>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.574A>T	19.37:g.39950550A>T	ENSP00000470252:p.Thr192Ser					SUPT5H_uc002olp.3_Missense_Mutation_p.T192S|SUPT5H_uc002olq.3_Missense_Mutation_p.T188S|SUPT5H_uc002oln.3_Missense_Mutation_p.T192S|SUPT5H_uc002olr.3_Missense_Mutation_p.T192S	p.T192S	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		10	753	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		192			Interaction with SUPT4H1.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.574A>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826603	0.90955	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.16	5.16	0.70880	Transcription antitermination protein, NusG, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	L	0.57130	1.785	0.80722	D	1	P;P	0.52316	0.941;0.952	P;P	0.62885	0.888;0.908	T	0.72858	-0.4165	8	.	.	.	-6.9129	14.2941	0.66300	1.0:0.0:0.0:0.0	.	188;192	O00267-2;O00267	.;SPT5H_HUMAN	S	192;188;170;192	.	.	T	+	1	0	SUPT5H	44642390	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.791000	0.91849	2.098000	0.63641	0.533000	0.62120	ACG		0.547	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1		NM_003169		26	53	0	0	0	0.005443	0	26	53		
IRGC	56269	broad.mit.edu	37	19	44222905	44222905	+	Silent	SNP	G	G	A	rs372095741		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:44222905G>A	ENST00000244314.5	+	2	394	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	65	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.A65A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGTCGGGCGCGGGCAAGTCCT	0.701																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(193-195)GCG>GCA		immunity-related GTPase family, cinema		G		0,4406		0,0,2203	42.0	45.0	44.0		195	-10.9	0.0	19		44	1,8597		0,1,4298	no	coding-synonymous	IRGC	NM_019612.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		65/464	44222905	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44222905G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.195G>A	19.37:g.44222905G>A							p.A65A	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	342	+		Prostate(69;0.0435)	65			GTP.		Q05BR8	Silent	SNP	ENST00000244314.5	37	c.195G>A	CCDS12629.1																																																																																				0.701	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1		NM_019612		4	77	0	0	0	0.009096	0	4	77		
CGB7	94027	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:49558229T>C	ENST00000597853.1	-	4	2923	c.52A>G	c.(52-54)Aca>Gca	p.T18A	CGB7_ENST00000377280.3_Missense_Mutation_p.T18A|CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000596965.1_Missense_Mutation_p.T18A|CGB7_ENST00000356213.4_Missense_Mutation_p.T16A			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	18			T -> A. {ECO:0000269|PubMed:11861891}.		apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T18A(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GATGCCCATGTCCCGCCCATG	0.657																																						uc002pmd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(52-54)ACA>GCA		chorionic gonadotropin, beta polypeptide 7	Choriogonadotropin alfa(DB00097)						89.0	66.0	74.0					19																	49558229		1504	2688	4192	SO:0001583	missense	94027				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49558229T>C	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.52A>G	19.37:g.49558229T>C	ENSP00000470813:p.Thr18Ala					CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.T18A	p.T18A	NM_033142	NP_149133	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	417	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	18		T -> A.			A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	ENST00000597853.1	37	c.52A>G	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.329503	0.00017	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	T;T	0.38240	1.15;1.15	2.0	-0.578	0.11724	.	0.889152	0.09527	N	0.790128	T	0.12902	0.0313	.	.	.	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.09377	0.002;0.004	T	0.31833	-0.9929	9	0.05959	T	0.93	-23.5242	4.4433	0.11584	0.0:0.6359:0.0:0.3641	.	16;48	F5H162;A6NKQ9	.;CGB1_HUMAN	A	18;16	ENSP00000366493:T18A;ENSP00000348545:T16A	ENSP00000348545:T16A	T	-	1	0	CGB7	54250041	0.077000	0.21312	0.016000	0.15963	0.012000	0.07955	0.596000	0.24044	0.011000	0.14865	-1.140000	0.01884	ACA		0.657	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1		NM_033142		5	67	0	0	0	0.004482	0	5	67		
KIR3DL2	3812	broad.mit.edu	37	19	55377274	55377274	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:55377274C>T	ENST00000326321.3	+	7	1048	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	KIR3DL2_ENST00000270442.5_Silent_p.L322L|KIR3DL1_ENST00000402254.2_Silent_p.L339L	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	339					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGCAGACACCTGCATGTTCT	0.438																																						uc002qhl.3		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1015-1017)CTG>TTG		SubName: Full=KIR3DS1;							342.0	286.0	305.0					19																	55377274		2203	4300	6503	SO:0001819	synonymous_variant	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55377274C>T	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1015C>T	19.37:g.55377274C>T						KIR3DL2_uc010esh.2_Silent_p.L322L|KIR3DL2_uc002qho.3_Silent_p.L339L	p.L339L			P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	1078	+			339			Extracellular (Potential).		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	c.1015C>T	CCDS12906.1																																																																																				0.438	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1				44	60	0	0	0	0.01441	0	44	60		
TPO	7173	broad.mit.edu	37	2	1500391	1500391	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:1500391G>A	ENST00000345913.4	+	13	2331	c.2240G>A	c.(2239-2241)aGc>aAc	p.S747N	TPO_ENST00000382198.1_Missense_Mutation_p.S574N|TPO_ENST00000382201.3_Missense_Mutation_p.S690N|TPO_ENST00000346956.3_Missense_Mutation_p.S747N|TPO_ENST00000337415.3_Missense_Mutation_p.S747N|TPO_ENST00000349624.3_Missense_Mutation_p.S574N|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.S747N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	747	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCCAGAGAGCGTGGAGAAT	0.557																																						uc002qww.2		NaN																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2239-2241)AGC>AAC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						132.0	126.0	128.0					2																	1500391		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1500391G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2240G>A	2.37:g.1500391G>A	ENSP00000318820:p.Ser747Asn					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.S690N|TPO_uc002qwr.2_Missense_Mutation_p.S747N|TPO_uc002qwx.2_Missense_Mutation_p.S690N|TPO_uc010yio.1_Missense_Mutation_p.S574N|TPO_uc010yip.1_Missense_Mutation_p.S747N|TPO_uc002qwy.1_Missense_Mutation_p.S87N|TPO_uc002qwz.2_Intron	p.S747N	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	13	2331	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	747			Extracellular (Potential).|Sushi.		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2240G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.410|6.410	0.443795|0.443795	0.12164|0.12164	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.76578	.|-1.03;-1.03;1.84;1.84;-1.03;1.84;1.84;1.84;-0.16	4.9|4.9	-9.81|-9.81	0.00487|0.00487	.|Complement control module (2);Sushi/SCR/CCP (2);	.|4.405740	.|0.00465	.|N	.|0.000112	T|T	0.58177|0.58177	0.2104|0.2104	N|N	0.25332|0.25332	0.735|0.735	0.09310|0.09310	N|N	1|1	.|B;P;B;B	.|0.35821	.|0.049;0.523;0.049;0.029	.|B;B;B;B	.|0.37267	.|0.017;0.245;0.017;0.008	T|T	0.57751|0.57751	-0.7757|-0.7757	5|10	.|0.21540	.|T	.|0.41	3.0624|3.0624	2.7936|2.7936	0.05394|0.05394	0.3392:0.2784:0.2906:0.0917|0.3392:0.2784:0.2906:0.0917	.|.	.|747;574;690;747	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|N	222|747;747;747;574;747;690;574;676;221	.|ENSP00000337263:S747N;ENSP00000318820:S747N;ENSP00000263886:S747N;ENSP00000332044:S574N;ENSP00000329869:S747N;ENSP00000371636:S690N;ENSP00000371633:S574N;ENSP00000405788:S676N;ENSP00000419461:S221N	.|ENSP00000329869:S747N	A|S	+|+	1|2	0|0	TPO|TPO	1479398|1479398	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.032000|0.032000	0.12392|0.12392	-0.194000|-0.194000	0.09559|0.09559	-2.612000|-2.612000	0.00445|0.00445	-1.320000|-1.320000	0.01293|0.01293	GCG|AGC		0.557	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		6	102	0	0	0	0.001168	0	6	102		
ATAD2B	54454	broad.mit.edu	37	2	23980429	23980429	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:23980429G>C	ENST00000238789.5	-	25	4280	c.3937C>G	c.(3937-3939)Cag>Gag	p.Q1313E	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1313						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTTGACTGGTCCTCCAGA	0.383																																						uc002rek.3		NaN																	0				central_nervous_system(1)	1						c.(3937-3939)CAG>GAG		ATPase family, AAA domain containing 2B							186.0	179.0	181.0					2																	23980429		1824	4088	5912	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23980429G>C	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3937C>G	2.37:g.23980429G>C	ENSP00000238789:p.Gln1313Glu					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.Q553E|ATAD2B_uc002rej.3_Missense_Mutation_p.Q481E	p.Q1313E	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			25	4231	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1313					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.3937C>G	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	1.990	-0.432048	0.04669	.	.	ENSG00000119778	ENST00000238789;ENST00000546030	D	0.91237	-2.81	5.27	5.27	0.74061	.	1.006450	0.07999	N	0.988499	T	0.82245	0.4995	N	0.19112	0.55	0.28193	N	0.927672	B;B	0.19817	0.039;0.013	B;B	0.15052	0.012;0.01	T	0.64748	-0.6334	10	0.02654	T	1	.	11.8805	0.52574	0.0804:0.0:0.9196:0.0	.	1313;1308	Q9ULI0;Q9ULI0-2	ATD2B_HUMAN;.	E	1313;481	ENSP00000238789:Q1313E	ENSP00000238789:Q1313E	Q	-	1	0	ATAD2B	23833933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.683000	0.68189	2.622000	0.88805	0.563000	0.77884	CAG		0.383	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1		NM_017552		25	34	0	0	0	0.00333	0	25	34		
PLEK	5341	broad.mit.edu	37	2	68607901	68607901	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:68607901A>G	ENST00000234313.7	+	3	424	c.245A>G	c.(244-246)cAg>cGg	p.Q82R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	82	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CACTTCTTCCAGGCAGCCTTC	0.468																																						uc002sen.3		NaN																	0				ovary(1)	1						c.(244-246)CAG>CGG		pleckstrin							130.0	130.0	130.0					2																	68607901		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607901A>G	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.245A>G	2.37:g.68607901A>G	ENSP00000234313:p.Gln82Arg					PLEK_uc010fde.2_Missense_Mutation_p.Q82R	p.Q82R	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	407	+		Ovarian(717;0.0129)	82			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.245A>G	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819688	0.90873	.	.	ENSG00000115956	ENST00000234313	T	0.12361	2.69	5.8	5.8	0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	L	0.57536	1.79	0.80722	D	1	D;D	0.63046	0.989;0.992	D;D	0.85130	0.995;0.997	T	0.02491	-1.1151	10	0.56958	D	0.05	.	16.1499	0.81605	1.0:0.0:0.0:0.0	.	100;82	Q59GZ2;P08567	.;PLEK_HUMAN	R	82	ENSP00000234313:Q82R	ENSP00000234313:Q82R	Q	+	2	0	PLEK	68461405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.935000	0.92923	2.220000	0.72140	0.533000	0.62120	CAG		0.468	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1		NM_002664		41	58	0	0	0	0.011902	0	41	58		
FBLN7	129804	broad.mit.edu	37	2	112944789	112944789	+	Silent	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:112944789C>A	ENST00000331203.2	+	8	1297	c.1026C>A	c.(1024-1026)ctC>ctA	p.L342L	FBLN7_ENST00000409450.3_Silent_p.L296L|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Silent_p.L208L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	342					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCATTACCTCTCTCTGCCTT	0.642																																						uc002tho.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1024-1026)CTC>CTA		fibulin 7 isoform 1							87.0	86.0	87.0					2																	112944789		2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112944789C>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1026C>A	2.37:g.112944789C>A						FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Silent_p.L296L|FBLN7_uc010fkj.1_Silent_p.L208L	p.L342L	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN			8	1297	+			342					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.1026C>A	CCDS2095.1																																																																																				0.642	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1		NM_153214		48	71	1	0	7.05377e-20	0.01441	8.27215e-20	48	71		
TTN	7273	broad.mit.edu	37	2	179410748	179410748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:179410748C>T	ENST00000591111.1	-	293	90516	c.90292G>A	c.(90292-90294)Gaa>Aaa	p.E30098K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29171K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E31739K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22799K|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22674K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22866K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30098	Fibronectin type-III 119. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTGATTTCTGCTCCTCCG	0.532																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(87511-87513)GAA>AAA		titin isoform N2-A							87.0	84.0	85.0					2																	179410748		2023	4176	6199	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410748C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90292G>A	2.37:g.179410748C>T	ENSP00000465570:p.Glu30098Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22866K|TTN_uc010zfi.1_Missense_Mutation_p.E22799K|TTN_uc010zfj.1_Missense_Mutation_p.E22674K	p.E29171K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		292	87735	-			30098					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.87511G>A		.	.	.	.	.	.	.	.	.	.	C	14.80	2.642127	0.47153	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.82	5.82	0.92795	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41903	0.1179	N	0.15975	0.35	0.31533	N	0.660989	B;B;B;B	0.15141	0.012;0.012;0.012;0.012	B;B;B;B	0.21917	0.037;0.037;0.037;0.037	T	0.49273	-0.8957	9	0.87932	D	0	.	17.0732	0.86580	0.0:0.8735:0.1265:0.0	.	22674;22799;22866;30098	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	29171;22674;22866;22799;22671	ENSP00000343764:E29171K;ENSP00000434586:E22674K;ENSP00000340554:E22866K;ENSP00000352154:E22799K	ENSP00000340554:E22866K	E	-	1	0	TTN	179118994	0.979000	0.34478	1.000000	0.80357	0.988000	0.76386	1.262000	0.32992	2.756000	0.94617	0.563000	0.77884	GAA		0.532	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		18	16	0	0	0	0.008871	0	18	16		
TTN	7273	broad.mit.edu	37	2	179612398	179612398	+	Intron	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:179612398A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.L4910P|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGCAGCAAGTAAATATTG	0.413																																						uc002unb.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14728-14730)CTT>CCT		titin isoform novex-3							75.0	77.0	76.0					2																	179612398		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612398A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5452T>C	2.37:g.179612398A>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.L4910P	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14953	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14729T>C		.	.	.	.	.	.	.	.	.	.	A	19.20	3.781644	0.70222	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.64991	-0.13	5.48	5.48	0.80851	.	.	.	.	.	T	0.72566	0.3476	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.74368	-0.3688	9	0.59425	D	0.04	.	12.6209	0.56603	0.8528:0.1472:0.0:0.0	.	4910	Q8WZ42-6	.	P	4910;224	ENSP00000354117:L4910P	ENSP00000304714:L224P	L	-	2	0	TTN	179320643	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.227000	0.65305	2.204000	0.70986	0.528000	0.53228	CTT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		9	22	0	0	0	0.006214	0	9	22		
TTN	7273	broad.mit.edu	37	2	179656911	179656911	+	Missense_Mutation	SNP	G	G	A	rs370026046		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:179656911G>A	ENST00000591111.1	-	10	1774	c.1550C>T	c.(1549-1551)aCt>aTt	p.T517I	TTN_ENST00000342992.6_Missense_Mutation_p.T517I|TTN_ENST00000360870.5_Missense_Mutation_p.T517I|TTN_ENST00000589042.1_Missense_Mutation_p.T517I|TTN_ENST00000359218.5_Missense_Mutation_p.T517I|TTN_ENST00000460472.2_Missense_Mutation_p.T517I|TTN_ENST00000342175.6_Missense_Mutation_p.T517I			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTTTCAGTTTCTTTTCT	0.279																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1549-1551)ACT>ATT		titin isoform N2-A		G	ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR	1,4399	2.1+/-5.4	0,1,2199	70.0	72.0	71.0		1550,1550,1550,1550,1550	5.9	1.0	2		71	0,8590		0,0,4295	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	89,89,89,89,89	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	517/26927,517/33424,517/5605,517/27052,517/27119	179656911	1,12989	2200	4295	6495	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179656911G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1550C>T	2.37:g.179656911G>A	ENSP00000465570:p.Thr517Ile					TTN_uc010zfh.1_Missense_Mutation_p.T517I|TTN_uc010zfi.1_Missense_Mutation_p.T517I|TTN_uc010zfj.1_Missense_Mutation_p.T517I|TTN_uc002unb.2_Missense_Mutation_p.T517I|TTN_uc010frg.1_Missense_Mutation_p.T191I	p.T517I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		10	1774	-			517					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1550C>T		.	.	.	.	.	.	.	.	.	.	G	13.01	2.108007	0.37242	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.88	5.88	0.94601	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.58235	0.2108	L	0.27053	0.805	0.27395	N	0.955021	D;D;D;D;D	0.76494	0.997;0.997;0.997;0.997;0.999	D;D;D;D;D	0.85130	0.995;0.995;0.995;0.995;0.997	T	0.55566	-0.8121	9	0.87932	D	0	.	15.7442	0.77926	0.0:0.0:1.0:0.0	.	517;517;517;517;517	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	517;517;517;517;517;517;113	ENSP00000343764:T517I;ENSP00000434586:T517I;ENSP00000340554:T517I;ENSP00000352154:T517I;ENSP00000354117:T517I;ENSP00000405517:T113I	ENSP00000340554:T517I	T	-	2	0	TTN	179365156	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.566000	0.53805	2.774000	0.95407	0.655000	0.94253	ACT		0.279	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		17	23	0	0	0	0.006122	0	17	23		
KANSL1L	151050	broad.mit.edu	37	2	210962866	210962866	+	Silent	SNP	T	T	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:210962866T>G	ENST00000281772.9	-	5	1757	c.1494A>C	c.(1492-1494)tcA>tcC	p.S498S	KANSL1L_ENST00000418791.1_Silent_p.S498S|KANSL1L_ENST00000452086.1_Silent_p.S498S|KANSL1L_ENST00000457374.1_Silent_p.S498S	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	498						histone acetyltransferase complex (GO:0000123)											AAGAGAGGGGTGATGAAGTTG	0.423																																						uc002vds.2		NaN																	0				ovary(3)	3						c.(1492-1494)TCA>TCC		hypothetical protein LOC151050							110.0	102.0	105.0					2																	210962866		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:210962866T>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1494A>C	2.37:g.210962866T>G						C2orf67_uc002vdt.2_Silent_p.S498S|C2orf67_uc002vdw.2_Silent_p.S498S|C2orf67_uc002vdv.2_Silent_p.S498S|C2orf67_uc002vdx.1_Silent_p.S498S	p.S498S	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	5	1702	-		Renal(323;0.202)	498					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.1494A>C	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.22|10.22	1.291188|1.291188	0.23564|0.23564	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000438563|ENST00000428655	.|.	.|.	.|.	5.25|5.25	4.01|4.01	0.46588|0.46588	.|.	.|.	.|.	.|.	.|.	T|T	0.55593|0.55593	0.1930|0.1930	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53450|0.53450	-0.8437|-0.8437	4|4	.|.	.|.	.|.	.|.	6.3335|6.3335	0.21282|0.21282	0.2482:0.0:0.135:0.6167|0.2482:0.0:0.135:0.6167	.|.	.|.	.|.	.|.	P|P	172|193	.|.	.|.	H|T	-|-	2|1	0|0	C2orf67|C2orf67	210671111|210671111	0.925000|0.925000	0.31364|0.31364	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	-0.287000|-0.287000	0.08388|0.08388	2.109000|2.109000	0.64355|0.64355	0.477000|0.477000	0.44152|0.44152	CAC|ACC		0.423	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3		NM_152519		4	17	0	0	0	0.004482	0	4	17		
TMC2	117532	broad.mit.edu	37	20	2542536	2542536	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr20:2542536G>T	ENST00000358864.1	+	4	449	c.434G>T	c.(433-435)gGg>gTg	p.G145V		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	145	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCCTCTGGTGGGGAGTCCCTG	0.617																																						uc002wgf.1		NaN																	0				ovary(3)	3						c.(433-435)GGG>GTG		transmembrane cochlear-expressed protein 2							76.0	70.0	72.0					20																	2542536		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2542536G>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.434G>T	20.37:g.2542536G>T	ENSP00000351732:p.Gly145Val					TMC2_uc002wgg.1_Missense_Mutation_p.G129V|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	p.G145V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			4	449	+			145			Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.434G>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	8.391	0.839828	0.16891	.	.	ENSG00000149488	ENST00000358864	T	0.50001	0.76	4.48	1.45	0.22620	.	0.342769	0.26704	N	0.022937	T	0.43188	0.1236	L	0.60455	1.87	0.38179	D	0.939565	P;P	0.37864	0.571;0.61	B;B	0.42692	0.395;0.221	T	0.36841	-0.9731	10	0.42905	T	0.14	-1.7187	5.6953	0.17853	0.3355:0.0:0.6645:0.0	.	145;145	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	V	145	ENSP00000351732:G145V	ENSP00000351732:G145V	G	+	2	0	TMC2	2490536	0.837000	0.29446	0.255000	0.24374	0.604000	0.37047	0.791000	0.26915	0.583000	0.29574	0.563000	0.77884	GGG		0.617	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2				43	55	1	0	1.7489e-18	0.011902	2.01436e-18	43	55		
ZBTB46	140685	broad.mit.edu	37	20	62421844	62421844	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr20:62421844G>C	ENST00000245663.4	-	2	417	c.267C>G	c.(265-267)ttC>ttG	p.F89L	ZBTB46_ENST00000302995.2_Missense_Mutation_p.F89L|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.F89L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGAGTACATGAAGTCGATGA	0.612																																						uc002ygv.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(265-267)TTC>TTG		zinc finger and BTB domain containing 46							68.0	59.0	62.0					20																	62421844		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421844G>C	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.267C>G	20.37:g.62421844G>C	ENSP00000245663:p.Phe89Leu					ZBTB46_uc002ygu.2_RNA	p.F89L	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	468	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		89			BTB.		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.267C>G	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749625	0.89753	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.72167	-0.63;-0.63;-0.63	5.62	4.66	0.58398	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.81497	2.545	0.50039	D	0.999846	D	0.89917	1.0	D	0.91635	0.999	D	0.85744	0.1339	10	0.87932	D	0	.	13.9165	0.63902	0.0743:0.0:0.9257:0.0	.	89	Q86UZ6	ZBT46_HUMAN	L	89	ENSP00000245663:F89L;ENSP00000303102:F89L;ENSP00000378536:F89L	ENSP00000245663:F89L	F	-	3	2	ZBTB46	61892288	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.813000	0.62620	2.655000	0.90218	0.655000	0.94253	TTC		0.612	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2		NM_025224		19	37	0	0	0	0.007413	0	19	37		
LMF2	91289	broad.mit.edu	37	22	50943119	50943119	+	Missense_Mutation	SNP	C	C	G	rs573188887		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr22:50943119C>G	ENST00000474879.2	-	11	1490	c.1475G>C	c.(1474-1476)cGg>cCg	p.R492P	LMF2_ENST00000380796.3_Intron|LMF2_ENST00000216080.5_Missense_Mutation_p.R467P|LMF2_ENST00000505981.1_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	492						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGGGCGGCCGGCTCAGGTT	0.692																																						uc003blp.2		NaN																	0				breast(1)	1						c.(1474-1476)CGG>CCG		lipase maturation factor 2							36.0	45.0	42.0					22																	50943119		2198	4297	6495	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50943119C>G	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1475G>C	22.37:g.50943119C>G	ENSP00000424381:p.Arg492Pro					LMF2_uc010hba.2_Missense_Mutation_p.R314P|LMF2_uc003blo.2_Missense_Mutation_p.R467P	p.R492P	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	11	1506	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	492					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.1475G>C	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345878	0.24426	.	.	ENSG00000100258	ENST00000474879;ENST00000216080	T;T	0.27256	1.68;1.68	5.73	1.06	0.20224	.	0.493160	0.19859	N	0.104479	T	0.35885	0.0947	M	0.93197	3.39	0.80722	D	1	B;B	0.21821	0.061;0.027	B;B	0.34722	0.188;0.035	T	0.20075	-1.0286	10	0.31617	T	0.26	1.3817	1.7796	0.03028	0.1516:0.4252:0.246:0.1772	.	492;467	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	P	492;467	ENSP00000424381:R492P;ENSP00000216080:R467P	ENSP00000216080:R467P	R	-	2	0	LMF2	49289985	0.245000	0.23899	0.593000	0.28771	0.318000	0.28184	1.159000	0.31749	0.748000	0.32831	0.655000	0.94253	CGG		0.692	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2		NM_033200		21	29	0	0	0	0.014323	0	21	29		
LMCD1	29995	broad.mit.edu	37	3	8543629	8543629	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:8543629C>A	ENST00000157600.3	+	1	237	c.5C>A	c.(4-6)gCa>gAa	p.A2E	LMCD1-AS1_ENST00000455811.2_RNA|LMCD1_ENST00000397386.3_5'UTR|LMCD1-AS1_ENST00000452802.1_RNA|LMCD1_ENST00000454244.1_5'UTR|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1-AS1_ENST00000420095.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.A2E|LMCD1-AS1_ENST00000446281.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	2					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AAGAGGATGGCAAAGGTGGCT	0.572																																						uc003bqq.2		NaN																	0				ovary(1)	1						c.(4-6)GCA>GAA		LIM and cysteine-rich domains 1							120.0	121.0	121.0					3																	8543629		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8543629C>A	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.5C>A	3.37:g.8543629C>A	ENSP00000157600:p.Ala2Glu					uc003bqp.2_5'Flank|LMCD1_uc011atd.1_5'UTR|LMCD1_uc011ate.1_5'UTR	p.A2E	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	1	119	+			2					B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.5C>A	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801246	0.70567	.	.	ENSG00000071282	ENST00000157600;ENST00000535732	T;T	0.78481	0.77;-1.18	5.38	5.38	0.77491	.	0.396433	0.24094	N	0.041608	T	0.70640	0.3247	L	0.36672	1.1	0.80722	D	1	B	0.31318	0.319	B	0.31290	0.127	T	0.72279	-0.4340	10	0.66056	D	0.02	-12.8622	14.6846	0.69040	0.0:1.0:0.0:0.0	.	2	Q9NZU5	LMCD1_HUMAN	E	2	ENSP00000157600:A2E;ENSP00000441100:A2E	ENSP00000157600:A2E	A	+	2	0	LMCD1	8518629	0.993000	0.37304	1.000000	0.80357	0.983000	0.72400	2.455000	0.44988	2.526000	0.85167	0.579000	0.79373	GCA		0.572	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1		NM_014583		21	50	1	0	4.4004e-07	0.00333	4.69134e-07	21	50		
RAD18	56852	broad.mit.edu	37	3	8988964	8988964	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:8988964T>C	ENST00000264926.2	-	4	322	c.206A>G	c.(205-207)gAg>gGg	p.E69G	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	69					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CAGATCCGGCTCTGTGACAGT	0.343								Rad6 pathway																														uc003brd.2		NaN																	0				skin(3)|ovary(2)	5						c.(205-207)GAG>GGG	Rad6_pathway	postreplication repair protein hRAD18p							169.0	178.0	175.0					3																	8988964		2202	4300	6502	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8988964T>C		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.206A>G	3.37:g.8988964T>C	ENSP00000264926:p.Glu69Gly					RAD18_uc003bre.2_RNA	p.E69G	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	4	283	-			69					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.206A>G	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030779	0.54790	.	.	ENSG00000070950	ENST00000264926;ENST00000413832	T;T	0.17528	2.27;2.27	5.88	5.88	0.94601	Zinc finger, RING/FYVE/PHD-type (1);	0.050388	0.85682	D	0.000000	T	0.34919	0.0914	M	0.72894	2.215	0.53688	D	0.999973	P	0.46512	0.879	P	0.55011	0.766	T	0.05273	-1.0895	10	0.59425	D	0.04	-20.0651	12.6905	0.56972	0.0:0.0:0.0:1.0	.	69	Q9NS91	RAD18_HUMAN	G	69	ENSP00000264926:E69G;ENSP00000412261:E69G	ENSP00000264926:E69G	E	-	2	0	RAD18	8963964	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	4.930000	0.63462	2.257000	0.74773	0.459000	0.35465	GAG		0.343	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2		NM_020165		44	68	0	0	0	0.009718	0	44	68		
EXOG	9941	broad.mit.edu	37	3	38565704	38565704	+	Nonsense_Mutation	SNP	C	C	T	rs575712682		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:38565704C>T	ENST00000287675.5	+	6	1054	c.958C>T	c.(958-960)Cga>Tga	p.R320*	EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Nonsense_Mutation_p.R270*	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	320					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R320*(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGAAGGAGCCCGATCAGTGCT	0.423																																						uc003cih.2		NaN																	1	Substitution - Nonsense(1)		central_nervous_system(1)		0						c.(958-960)CGA>TGA		endo/exonuclease (5'-3'), endonuclease G-like							91.0	96.0	94.0					3																	38565704		2203	4300	6503	SO:0001587	stop_gained	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38565704C>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.958C>T	3.37:g.38565704C>T	ENSP00000287675:p.Arg320*					EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Nonsense_Mutation_p.R270*|EXOG_uc003cij.2_Nonsense_Mutation_p.R180*|EXOG_uc010hhd.2_Nonsense_Mutation_p.R180*|EXOG_uc010hhe.2_Nonsense_Mutation_p.R180*|EXOG_uc003cik.2_Nonsense_Mutation_p.R180*|EXOG_uc010hhf.2_Nonsense_Mutation_p.R180*|EXOG_uc003cii.2_Nonsense_Mutation_p.R180*	p.R320*	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN			6	1054	+			320					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Nonsense_Mutation	SNP	ENST00000287675.5	37	c.958C>T	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782021	0.70222	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	.	.	.	5.54	3.64	0.41730	.	0.437392	0.22739	N	0.056222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6957	7.4574	0.27274	0.2923:0.6265:0.0:0.0812	.	.	.	.	X	320;270	.	ENSP00000287675:R320X	R	+	1	2	EXOG	38540708	0.885000	0.30320	0.832000	0.32986	0.996000	0.88848	0.590000	0.23954	0.774000	0.33427	0.655000	0.94253	CGA		0.423	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2		NM_005107		62	115	0	0	0	0.01441	0	62	115		
SCN5A	6331	broad.mit.edu	37	3	38639411	38639411	+	Missense_Mutation	SNP	C	C	T	rs199473146		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:38639411C>T	ENST00000333535.4	-	14	2220	c.2071G>A	c.(2071-2073)Gcc>Acc	p.A691T	SCN5A_ENST00000414099.2_Missense_Mutation_p.A691T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A691T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A691T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A691T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A691T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A691T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A691T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A691T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A691T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	691					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TAGCGCTGGGCGAGACGGTTC	0.532																																						uc003cio.2		NaN																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	GRCh37	CM044058	SCN5A	M		c.(2071-2073)GCC>ACC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						120.0	125.0	123.0					3																	38639411		2138	4238	6376	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639411C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2071G>A	3.37:g.38639411C>T	ENSP00000328968:p.Ala691Thr					SCN5A_uc003cin.2_Missense_Mutation_p.A691T|SCN5A_uc003cil.3_Missense_Mutation_p.A691T|SCN5A_uc010hhi.2_Missense_Mutation_p.A691T|SCN5A_uc010hhk.2_Missense_Mutation_p.A691T|SCN5A_uc011ayr.1_Missense_Mutation_p.A691T|SCN5A_uc010hhj.1_Missense_Mutation_p.A302T	p.A691T	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2265	-	Medulloblastoma(35;0.163)		691					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2071G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	c	14.60	2.584370	0.46110	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97016	-4.1;-4.13;-4.13;-4.09;-4.13;-4.1;-4.13;-4.21;-4.09;-4.09	4.9	4.03	0.46877	.	0.179278	0.48767	N	0.000163	D	0.95472	0.8529	M	0.71206	2.165	0.41008	D	0.984984	P;B;D;P;P;B;D	0.53151	0.929;0.017;0.958;0.929;0.929;0.428;0.958	B;B;P;B;B;B;P	0.44447	0.263;0.004;0.45;0.263;0.263;0.06;0.45	D	0.95419	0.8505	10	0.72032	D	0.01	.	13.5541	0.61749	0.0:0.9247:0.0:0.0753	.	691;691;691;691;691;691;691	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	T	691	ENSP00000398962:A691T;ENSP00000398266:A691T;ENSP00000410257:A691T;ENSP00000388797:A691T;ENSP00000397915:A691T;ENSP00000416634:A691T;ENSP00000328968:A691T;ENSP00000399524:A691T;ENSP00000403355:A691T;ENSP00000413996:A691T	ENSP00000328968:A691T	A	-	1	0	SCN5A	38614415	1.000000	0.71417	0.932000	0.37286	0.379000	0.30106	4.659000	0.61504	1.321000	0.45227	-0.320000	0.08662	GCC		0.532	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1		NM_198056		15	79	0	0	0	0.00499	0	15	79		
CACNA1D	776	broad.mit.edu	37	3	53756393	53756393	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:53756393G>T	ENST00000350061.5	+	12	2069	c.1558G>T	c.(1558-1560)Gtg>Ttg	p.V520L	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V520L|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V540L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	520					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGGGCCGCCGTGAAGTCTGT	0.483																																						uc003dgv.3		NaN																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(1558-1560)GTG>TTG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						180.0	146.0	157.0					3																	53756393		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53756393G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1558G>T	3.37:g.53756393G>T	ENSP00000288133:p.Val520Leu					CACNA1D_uc003dgu.3_Missense_Mutation_p.V540L|CACNA1D_uc003dgy.3_Missense_Mutation_p.V520L|CACNA1D_uc003dgw.3_Missense_Mutation_p.V187L	p.V520L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	12	1721	+			520			Cytoplasmic (Potential).|II.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1558G>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503107	0.96371	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000004	D	0.98134	0.9384	H	0.96805	3.885	0.80722	D	1	P;D;D;D	0.89917	0.631;1.0;0.996;1.0	B;D;D;D	0.97110	0.334;1.0;0.947;0.989	D	0.98730	1.0712	10	0.87932	D	0	.	20.2441	0.98394	0.0:0.0:1.0:0.0	.	520;213;520;540	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	L	520;540;520;213	ENSP00000288133:V520L;ENSP00000288139:V540L;ENSP00000409174:V520L;ENSP00000418014:V213L	ENSP00000288139:V540L	V	+	1	0	CACNA1D	53731433	1.000000	0.71417	0.968000	0.41197	0.915000	0.54546	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	GTG		0.483	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		NM_000720		44	31	1	0	8.86878e-18	0.01441	1.01245e-17	44	31		
CACNA1D	776	broad.mit.edu	37	3	53837556	53837556	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:53837556A>G	ENST00000350061.5	+	44	6053	c.5542A>G	c.(5542-5544)Agt>Ggt	p.S1848G	CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1824G|CACNA1D_ENST00000288139.4_Missense_Mutation_p.S1868G|CACNA1D_ENST00000544977.1_Missense_Mutation_p.S227G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1848					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTATTTCAGTAGTGAGGAATG	0.602																																						uc003dgv.3		NaN																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(5542-5544)AGT>GGT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						137.0	141.0	140.0					3																	53837556		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53837556A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5542A>G	3.37:g.53837556A>G	ENSP00000288133:p.Ser1848Gly					CACNA1D_uc003dgu.3_Missense_Mutation_p.S1868G|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1824G|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1515G|CACNA1D_uc011bes.1_RNA	p.S1848G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	44	5705	+			1848			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5542A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	4.631	0.117256	0.08881	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	D;D;D;D	0.95342	-3.65;-3.67;-3.68;-3.66	4.56	1.35	0.21983	.	0.896532	0.09143	N	0.842686	T	0.77772	0.4180	N	0.00483	-1.445	0.30786	N	0.741477	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.72606	-0.4242	10	0.15066	T	0.55	.	5.2167	0.15346	0.4587:0.0:0.5413:0.0	.	1824;1541;1848;1868	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	G	1848;1868;1824;1541;227	ENSP00000288133:S1848G;ENSP00000288139:S1868G;ENSP00000409174:S1824G;ENSP00000418014:S1541G	ENSP00000288139:S1868G	S	+	1	0	CACNA1D	53812596	0.988000	0.35896	0.509000	0.27700	0.542000	0.35054	2.109000	0.41863	0.555000	0.29079	0.454000	0.30748	AGT		0.602	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		NM_000720		123	125	0	0	0	0.01441	0	123	125		
CADPS	8618	broad.mit.edu	37	3	62739249	62739249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:62739249C>T	ENST00000383710.4	-	3	1104	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	CADPS_ENST00000283269.9_Missense_Mutation_p.R252Q|CADPS_ENST00000357948.3_Missense_Mutation_p.R252Q|CADPS_ENST00000490353.2_Missense_Mutation_p.R252Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	252					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGCTGCTTCCGCGGGTCCTC	0.567																																						uc003dll.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(754-756)CGG>CAG		Ca2+-dependent secretion activator isoform 1							62.0	64.0	63.0					3																	62739249		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62739249C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.755G>A	3.37:g.62739249C>T	ENSP00000373215:p.Arg252Gln					CADPS_uc003dlm.2_Missense_Mutation_p.R252Q|CADPS_uc003dln.2_Missense_Mutation_p.R252Q	p.R252Q	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	3	1115	-		Lung SC(41;0.0452)	252					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.755G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411640	0.83340	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.88	5.88	0.94601	.	0.048959	0.85682	D	0.000000	D	0.93536	0.7937	L	0.48362	1.52	0.54753	D	0.999986	P;D;P	0.76494	0.928;0.999;0.913	B;D;B	0.71870	0.369;0.975;0.089	D	0.91205	0.4994	10	0.28530	T	0.3	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	252;252;252	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	Q	252	ENSP00000373215:R252Q;ENSP00000350632:R252Q;ENSP00000283269:R252Q;ENSP00000418736:R252Q	ENSP00000283269:R252Q	R	-	2	0	CADPS	62714289	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.818000	0.86416	2.789000	0.95967	0.655000	0.94253	CGG		0.567	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5		NM_003716, NM_183393, NM_183394		19	23	0	0	0	0.007413	0	19	23		
MORC1	27136	broad.mit.edu	37	3	108819338	108819338	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:108819338G>C	ENST00000483760.1	-	5	283	c.240C>G	c.(238-240)atC>atG	p.I80M	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.I80M					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAAGTAAATGATGTCTGAAG	0.433																																						uc003dxl.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(238-240)ATC>ATG		MORC family CW-type zinc finger 1							163.0	163.0	163.0					3																	108819338		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819338G>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.240C>G	3.37:g.108819338G>C	ENSP00000417282:p.Ile80Met					MORC1_uc011bhn.1_Missense_Mutation_p.I80M	p.I80M	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			5	327	-			80						Missense_Mutation	SNP	ENST00000483760.1	37	c.240C>G		.	.	.	.	.	.	.	.	.	.	G	12.79	2.044321	0.36085	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.74947	-0.89;-0.89	5.32	-6.63	0.01807	ATPase-like, ATP-binding domain (3);	0.124218	0.36444	N	0.002595	T	0.61664	0.2365	N	0.20845	0.615	0.22266	N	0.999249	D;B	0.64830	0.994;0.382	D;B	0.64410	0.925;0.24	T	0.62671	-0.6805	10	0.11485	T	0.65	-9.5211	5.3488	0.16024	0.2706:0.0:0.2399:0.4894	.	80;80	E7ERX1;Q86VD1	.;MORC1_HUMAN	M	80	ENSP00000232603:I80M;ENSP00000417282:I80M	ENSP00000232603:I80M	I	-	3	3	MORC1	110302028	0.215000	0.23574	0.629000	0.29254	0.997000	0.91878	-1.274000	0.02820	-1.714000	0.01390	0.655000	0.94253	ATC		0.433	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1				29	50	0	0	0	0.008361	0	29	50		
BCHE	590	broad.mit.edu	37	3	165548632	165548632	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:165548632G>T	ENST00000264381.3	-	2	356	c.190C>A	c.(190-192)Cca>Aca	p.P64T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	64					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CCAAGAGGTGGCTGTGCATAG	0.418																																						uc003fem.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(190-192)CCA>ACA		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						114.0	109.0	111.0					3																	165548632		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548632G>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.190C>A	3.37:g.165548632G>T	ENSP00000264381:p.Pro64Thr					BCHE_uc003fen.3_Intron	p.P64T	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	350	-			64					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.190C>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904513	0.72868	.	.	ENSG00000114200	ENST00000264381	T	0.75154	-0.91	5.67	5.67	0.87782	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.90414	0.6999	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92612	0.6100	10	0.87932	D	0	.	18.7517	0.91818	0.0:0.0:1.0:0.0	.	64	P06276	CHLE_HUMAN	T	64	ENSP00000264381:P64T	ENSP00000264381:P64T	P	-	1	0	BCHE	167031326	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	9.699000	0.98703	2.669000	0.90835	0.655000	0.94253	CCA		0.418	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1				8	9	1	0	0.00307968	0.00308	0.00320386	8	9		
HRG	3273	broad.mit.edu	37	3	186394879	186394879	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:186394879C>A	ENST00000232003.4	+	7	865	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	262					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TTGGGACATCCCTTCCACTGG	0.468																																						uc003fqq.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(784-786)CCC>CAC		histidine-rich glycoprotein precursor							178.0	152.0	161.0					3																	186394879		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186394879C>A		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.785C>A	3.37:g.186394879C>A	ENSP00000232003:p.Pro262His						p.P262H	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	808	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		262					B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.785C>A	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311552	0.40895	.	.	ENSG00000113905	ENST00000232003	T	0.17691	2.26	4.34	-4.98	0.03019	.	0.821886	0.10487	N	0.668864	T	0.10852	0.0265	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.32455	-0.9906	10	0.52906	T	0.07	2.4613	3.4485	0.07490	0.5095:0.1721:0.2323:0.0862	.	262	P04196	HRG_HUMAN	H	262	ENSP00000232003:P262H	ENSP00000232003:P262H	P	+	2	0	HRG	187877573	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.462000	0.02364	-0.756000	0.04703	-0.410000	0.06199	CCC		0.468	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1		NM_000412		34	44	1	0	2.52637e-11	0.005524	2.76188e-11	34	44		
SMCO1	255798	broad.mit.edu	37	3	196235134	196235134	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:196235134C>T	ENST00000397537.2	-	3	425	c.269G>A	c.(268-270)cGt>cAt	p.R90H		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	90						integral component of membrane (GO:0016021)											CTCAAGCACACGAGTATGCAA	0.423																																						uc003fws.2		NaN																	0				ovary(1)	1						c.(268-270)CGT>CAT		hypothetical protein LOC255798							106.0	102.0	103.0					3																	196235134		1905	4134	6039	SO:0001583	missense	255798					integral to membrane		g.chr3:196235134C>T	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.269G>A	3.37:g.196235134C>T	ENSP00000380671:p.Arg90His					C3orf43_uc003fwr.2_Missense_Mutation_p.R82H	p.R90H	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)	3	426	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		90					B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	c.269G>A	CCDS43192.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661725	0.29515	.	.	ENSG00000214097	ENST00000397537	T	0.34667	1.35	5.46	-2.81	0.05805	.	.	.	.	.	T	0.21227	0.0511	N	0.19112	0.55	0.19300	N	0.999973	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.23226	-1.0194	9	0.29301	T	0.29	1.3821	11.2161	0.48827	0.0:0.2538:0.0:0.7462	.	90;82	Q147U7;E9PGG7	CC043_HUMAN;.	H	90	ENSP00000380671:R90H	ENSP00000380671:R90H	R	-	2	0	C3orf43	197719531	0.000000	0.05858	0.086000	0.20670	0.935000	0.57460	-1.143000	0.03200	-0.447000	0.07138	-0.140000	0.14226	CGT		0.423	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1		NM_001006109		88	110	0	0	0	0.01441	0	88	110		
FAM53A	152877	broad.mit.edu	37	4	1656882	1656882	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:1656882G>A	ENST00000308132.6	-	4	897	c.705C>T	c.(703-705)ccC>ccT	p.P235P	FAM53A_ENST00000461064.1_Silent_p.P235P|FAM53A_ENST00000472884.2_Silent_p.P235P|FAM53A_ENST00000489363.1_Silent_p.P235P	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	235						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCCAGGGCAGGGGAGTGCCCG	0.741																																						uc011bve.1		NaN																	0					0						c.(703-705)CCC>CCT		dorsal neural-tube nuclear protein							6.0	7.0	7.0					4																	1656882		2114	4120	6234	SO:0001819	synonymous_variant	152877					nucleus		g.chr4:1656882G>A	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.705C>T	4.37:g.1656882G>A						FAM53A_uc010ibw.2_Silent_p.P235P	p.P235P	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	903	-		all_epithelial(65;0.206)|Breast(71;0.212)	235					Q6ZUL5	Silent	SNP	ENST00000308132.6	37	c.705C>T	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	G	2.374	-0.343677	0.05243	.	.	ENSG00000174137	ENST00000489029	T	0.38240	1.15	4.32	0.469	0.16741	.	1.100570	0.07080	N	0.836936	T	0.30978	0.0782	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.36114	-0.9761	7	0.45353	T	0.12	-8.1282	5.7337	0.18055	0.2953:0.0:0.5819:0.1227	.	.	.	.	L	85	ENSP00000423987:P85L	ENSP00000423987:P85L	P	-	2	0	FAM53A	1626679	0.263000	0.24083	0.022000	0.16811	0.277000	0.26821	0.484000	0.22308	-0.012000	0.14223	0.563000	0.77884	CCC		0.741	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1		NM_001013622		9	0	0	0	0	0.013537	0	9	0		
PDGFRA	5156	broad.mit.edu	37	4	55130019	55130019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:55130019G>A	ENST00000257290.5	+	4	884	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.G185R	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	185	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G185W(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTTCACTGTAGGGCCCTATAT	0.478			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NaN		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(553-555)GGG>AGG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						98.0	92.0	94.0					4																	55130019		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55130019G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.553G>A	4.37:g.55130019G>A	ENSP00000257290:p.Gly185Arg	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.G185R|PDGFRA_uc010igq.1_Missense_Mutation_p.G79R|PDGFRA_uc003ham.2_RNA	p.G185R	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		4	884	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		185			Extracellular (Potential).|Ig-like C2-type 2.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.553G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159663	0.94686	.	.	ENSG00000134853	ENST00000257290;ENST00000508170	T;T	0.17054	2.3;2.3	5.64	5.64	0.86602	Immunoglobulin-like fold (1);	0.000000	0.32518	U	0.005986	T	0.46502	0.1396	M	0.83312	2.635	0.80722	D	1	P;D;D	0.89917	0.911;1.0;1.0	P;D;D	0.97110	0.55;1.0;1.0	T	0.31194	-0.9952	10	0.21014	T	0.42	.	19.7137	0.96107	0.0:0.0:1.0:0.0	.	185;185;185	P16234-3;P16234;P16234-2	.;PGFRA_HUMAN;.	R	185	ENSP00000257290:G185R;ENSP00000425648:G185R	ENSP00000257290:G185R	G	+	1	0	PDGFRA	54824776	1.000000	0.71417	0.902000	0.35471	0.976000	0.68499	7.762000	0.85270	2.655000	0.90218	0.462000	0.41574	GGG		0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206		24	29	0	0	0	0.00278	0	24	29		
KIAA1211	57482	broad.mit.edu	37	4	57182439	57182439	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:57182439C>A	ENST00000504228.1	+	6	2876	c.2771C>A	c.(2770-2772)tCc>tAc	p.S924Y	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S917Y|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S924Y			Q6ZU35	K1211_HUMAN	KIAA1211	924										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCTGAACCTTCCAGCAGCCGC	0.647																																						uc003hbk.2		NaN																	0				ovary(1)|skin(1)	2						c.(2770-2772)TCC>TAC		hypothetical protein LOC57482							26.0	35.0	32.0					4																	57182439		2049	4204	6253	SO:0001583	missense	57482							g.chr4:57182439C>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2771C>A	4.37:g.57182439C>A	ENSP00000423366:p.Ser924Tyr					KIAA1211_uc010iha.2_Missense_Mutation_p.S917Y|KIAA1211_uc011bzz.1_Missense_Mutation_p.S834Y|KIAA1211_uc003hbm.1_Missense_Mutation_p.S810Y	p.S924Y	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3162	+	Glioma(25;0.08)|all_neural(26;0.101)		924					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2771C>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494612	0.26774	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.13538	2.58;2.58;2.58	4.52	1.45	0.22620	.	.	.	.	.	T	0.08313	0.0207	N	0.14661	0.345	0.09310	N	1	P;P;B	0.41910	0.764;0.764;0.278	B;B;B	0.42214	0.38;0.307;0.079	T	0.28870	-1.0030	9	0.33940	T	0.23	-0.0107	5.9852	0.19430	0.1128:0.4467:0.3561:0.0845	.	917;917;924	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Y	924;924;917;834	ENSP00000264229:S924Y;ENSP00000423366:S924Y;ENSP00000444006:S917Y	ENSP00000264229:S924Y	S	+	2	0	KIAA1211	56877196	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	-0.859000	0.04277	0.323000	0.23307	0.313000	0.20887	TCC		0.647	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2		NM_020722		23	21	1	0	1.22574e-08	0.014323	1.32874e-08	23	21		
PRKG2	5593	broad.mit.edu	37	4	82126123	82126123	+	Missense_Mutation	SNP	G	G	A	rs187350442		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:82126123G>A	ENST00000395578.1	-	2	195	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	PRKG2_ENST00000264399.1_Missense_Mutation_p.R27W|PRKG2_ENST00000418486.2_Missense_Mutation_p.R27W			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	27					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.R27W(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACCTTGTTCCGCAGAGCATCA	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19454	0.0		0.0	False		,,,				2504	0.0					uc003hmh.2		NaN																	2	Substitution - Missense(2)		kidney(2)	breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(79-81)CGG>TGG		protein kinase, cGMP-dependent, type II		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	80.0	82.0		79	4.2	1.0	4		82	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PRKG2	NM_006259.1	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	27/763	82126123	3,13003	2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82126123G>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.79C>T	4.37:g.82126123G>A	ENSP00000378945:p.Arg27Trp					PRKG2_uc011cch.1_Missense_Mutation_p.R27W	p.R27W	NM_006259	NP_006250	Q13237	KGP2_HUMAN			1	93	-			27					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.79C>T	CCDS3589.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.71	1.720797	0.30503	2.27E-4	2.33E-4	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.70869	-0.4;-0.4;-0.52	5.1	4.25	0.50352	.	0.218260	0.45361	D	0.000375	T	0.55752	0.1940	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.988	B;B	0.44315	0.446;0.353	T	0.59595	-0.7425	10	0.72032	D	0.01	-10.0862	6.7167	0.23308	0.0809:0.0:0.4711:0.448	.	27;27	E7EPE6;Q13237	.;KGP2_HUMAN	W	27	ENSP00000378945:R27W;ENSP00000264399:R27W;ENSP00000389038:R27W	ENSP00000264399:R27W	R	-	1	2	PRKG2	82345147	0.972000	0.33761	1.000000	0.80357	0.561000	0.35649	0.506000	0.22658	1.366000	0.46076	0.585000	0.79938	CGG		0.527	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1		NM_006259		11	11	0	0	0	0.010729	0	11	11		
CCNA2	890	broad.mit.edu	37	4	122740027	122740027	+	Silent	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:122740027G>C	ENST00000274026.5	-	6	1347	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	348					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GCAAATACTTGAGGTATGGGT	0.388																																						uc003iec.3		NaN																	0				ovary(1)	1						c.(1042-1044)CTC>CTG		cyclin A							107.0	101.0	103.0					4																	122740027		2203	4300	6503	SO:0001819	synonymous_variant	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122740027G>C		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.1044C>G	4.37:g.122740027G>C							p.L348L	NM_001237	NP_001228	P20248	CCNA2_HUMAN			6	1349	-			348					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Silent	SNP	ENST00000274026.5	37	c.1044C>G	CCDS3723.1																																																																																				0.388	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2		NM_001237		25	31	0	0	0	0.003954	0	25	31		
TTC37	9652	broad.mit.edu	37	5	94858955	94858955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr5:94858955G>A	ENST00000358746.2	-	18	2006	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	570						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TATAGTCCTCGCCTAAGCCAG	0.393																																						uc003klb.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1708-1710)CGA>TGA		tetratricopeptide repeat domain 37							185.0	180.0	182.0					5																	94858955		2203	4300	6503	SO:0001587	stop_gained	9652						binding	g.chr5:94858955G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1708C>T	5.37:g.94858955G>A	ENSP00000351596:p.Arg570*					TTC37_uc010jbf.1_Nonsense_Mutation_p.R522*	p.R570*	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			18	1978	-			570			TPR 9.		O15077|Q6PJI3	Nonsense_Mutation	SNP	ENST00000358746.2	37	c.1708C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	39	7.574984	0.98368	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	.	.	.	4.88	2.93	0.34026	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	13.2519	0.60055	0.0:0.0:0.603:0.397	.	.	.	.	X	570;522	.	ENSP00000351596:R570X	R	-	1	2	TTC37	94884711	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	2.081000	0.41596	1.140000	0.42260	0.557000	0.71058	CGA		0.393	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1		NM_014639		29	39	0	0	0	0.010818	0	29	39		
PCDHB16	57717	broad.mit.edu	37	5	140567962	140567962	+	IGR	SNP	C	C	T	rs369161237		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr5:140567962C>T	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCTGTTGCTGAAAACTCT	0.388																																						uc003liw.1		NaN																	0					0						c.(1069-1071)GCT>GTT		protocadherin beta 9 precursor		C	VAL/ALA	0,4090		0,0,2045	69.0	72.0	71.0		1070	-0.1	0.0	5		71	1,8475		0,1,4237	no	missense	PCDHB9	NM_019119.3	64	0,1,6282	TT,TC,CC		0.0118,0.0,0.0080	benign	357/798	140567962	1,12565	2045	4238	6283	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567962C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567962C>T							p.A357V	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1070	+			357			Extracellular (Potential).|Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1070C>T	CCDS4251.1																																																																																				0.388	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957		37	54	0	0	0	0.005524	0	37	54		
PCDHGA12	26025	broad.mit.edu	37	5	140810424	140810424	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr5:140810424A>G	ENST00000252085.3	+	1	240	c.98A>G	c.(97-99)tAt>tGt	p.Y33C	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	33	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATACGCTATTCAGTTCCG	0.627																																						uc003lkt.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(97-99)TAT>TGT		protocadherin gamma subfamily A, 12 isoform 1							84.0	95.0	91.0					5																	140810424		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140810424A>G	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.98A>G	5.37:g.140810424A>G	ENSP00000252085:p.Tyr33Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.Y33C	p.Y33C	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	267	+			33			Cadherin 1.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.98A>G	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	a	16.93	3.256862	0.59321	.	.	ENSG00000253159	ENST00000252085	T	0.58506	0.33	5.57	5.57	0.84162	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	D	0.87557	0.6207	H	0.99834	4.825	0.32283	N	0.567375	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93681	0.6998	9	0.87932	D	0	.	15.4031	0.74858	1.0:0.0:0.0:0.0	.	33;33	O60330-2;O60330	.;PCDGC_HUMAN	C	33	ENSP00000252085:Y33C	ENSP00000252085:Y33C	Y	+	2	0	PCDHGA12	140790608	1.000000	0.71417	0.990000	0.47175	0.775000	0.43874	8.942000	0.92970	2.113000	0.64589	0.528000	0.53228	TAT		0.627	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2		NM_003735		90	107	0	0	0	0.01441	0	90	107		
SLC44A4	80736	broad.mit.edu	37	6	31842752	31842752	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:31842752T>C	ENST00000229729.6	-	5	316	c.296A>G	c.(295-297)aAc>aGc	p.N99S	SLC44A4_ENST00000375562.4_Missense_Mutation_p.N99S|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000544672.1_Missense_Mutation_p.N23S	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	99					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TGAGATGATGTTGCTGGACAG	0.577																																						uc010jti.2		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(295-297)AAC>AGC		choline transporter-like protein 4	Choline(DB00122)						167.0	173.0	171.0					6																	31842752		1511	2709	4220	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842752T>C	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.296A>G	6.37:g.31842752T>C	ENSP00000229729:p.Asn99Ser					SLC44A4_uc011dol.1_Missense_Mutation_p.N23S|SLC44A4_uc011dom.1_Missense_Mutation_p.N99S	p.N99S	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			5	362	-			99			Extracellular (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.296A>G	CCDS4724.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.66|11.66	1.703488|1.703488	0.30232|0.30232	.|.	.|.	ENSG00000204385|ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672|ENST00000414427	T;T;T|.	0.26660|.	1.72;1.72;1.72|.	5.2|5.2	4.0|4.0	0.46444|0.46444	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.32556|0.32556	0.0833|0.0833	M|M	0.66506|0.66506	2.035|2.035	0.09310|0.09310	N|N	1|1	B;P|.	0.38395|.	0.014;0.629|.	B;B|.	0.29077|.	0.012;0.098|.	T|T	0.16719|0.16719	-1.0393|-1.0393	10|5	0.26408|.	T|.	0.33|.	-21.8606|-21.8606	7.8781|7.8781	0.29605|0.29605	0.0:0.0945:0.0:0.9055|0.0:0.0945:0.0:0.9055	.|.	99;99|.	E9PEK7;Q53GD3|.	.;CTL4_HUMAN|.	S|A	99;99;23|95	ENSP00000229729:N99S;ENSP00000364712:N99S;ENSP00000444109:N23S|.	ENSP00000229729:N99S|.	N|T	-|-	2|1	0|0	SLC44A4|SLC44A4	31950731|31950731	0.479000|0.479000	0.25925|0.25925	0.347000|0.347000	0.25668|0.25668	0.960000|0.960000	0.62799|0.62799	1.877000|1.877000	0.39598|0.39598	2.189000|2.189000	0.69895|0.69895	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.577	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3				118	171	0	0	0	0.01441	0	118	171		
TNXB	7148	broad.mit.edu	37	6	32024427	32024427	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:32024427C>T	ENST00000375244.3	-	23	8280	c.8079G>A	c.(8077-8079)aaG>aaA	p.K2693K	TNXB_ENST00000375247.2_Silent_p.K2693K			P22105	TENX_HUMAN	tenascin XB	2753	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACAGGTTCATCTTGTATTTAT	0.642																																						uc003nzl.2		NaN																	0					0						c.(8077-8079)AAG>AAA		tenascin XB isoform 1 precursor							39.0	43.0	42.0					6																	32024427		1207	2508	3715	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32024427C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8079G>A	6.37:g.32024427C>T							p.K2693K	NM_019105	NP_061978	P22105	TENX_HUMAN			23	8281	-			2753			Fibronectin type-III 19.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.8079G>A																																																																																					0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		17	21	0	0	0	0.010504	0	17	21		
ITPR3	3710	broad.mit.edu	37	6	33639056	33639056	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:33639056A>T	ENST00000374316.5	+	22	3761	c.2701A>T	c.(2701-2703)Atg>Ttg	p.M901L	ITPR3_ENST00000605930.1_Missense_Mutation_p.M901L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	901					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCCCCCGGCCATGCTGCAGGC	0.632																																						uc011drk.1		NaN																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(2701-2703)ATG>TTG		inositol 1,4,5-triphosphate receptor, type 3							32.0	35.0	34.0					6																	33639056		2203	4299	6502	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33639056A>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2701A>T	6.37:g.33639056A>T	ENSP00000363435:p.Met901Leu						p.M901L	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			21	2920	+			901			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2701A>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021901	0.35701	.	.	ENSG00000096433	ENST00000374316	D	0.91124	-2.79	5.23	1.25	0.21368	.	0.527348	0.21520	N	0.073222	T	0.47985	0.1475	N	0.00869	-1.13	0.31467	N	0.668846	B	0.02656	0.0	B	0.01281	0.0	T	0.38243	-0.9670	10	0.27785	T	0.31	-18.7117	3.7785	0.08671	0.6637:0.1239:0.0791:0.1333	.	901	Q14573	ITPR3_HUMAN	L	901	ENSP00000363435:M901L	ENSP00000363435:M901L	M	+	1	0	ITPR3	33747034	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.958000	0.40402	0.789000	0.33779	0.533000	0.62120	ATG		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		NM_002224		17	19	0	0	0	0.007413	0	17	19		
PKHD1	5314	broad.mit.edu	37	6	51497481	51497481	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:51497481C>T	ENST00000371117.3	-	65	11822	c.11547G>A	c.(11545-11547)ttG>ttA	p.L3849L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3849					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGTCACAGGCAAGACAGCAA	0.463																																						uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11545-11547)TTG>TTA		fibrocystin isoform 1							94.0	89.0	91.0					6																	51497481		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51497481C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11547G>A	6.37:g.51497481C>T							p.L3849L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			65	11823	-	Lung NSC(77;0.0605)		3849			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11547G>A	CCDS4935.1																																																																																				0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		4	5	0	0	0	0.009096	0	4	5		
PKHD1	5314	broad.mit.edu	37	6	51497483	51497483	+	Silent	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:51497483A>G	ENST00000371117.3	-	65	11820	c.11545T>C	c.(11545-11547)Ttg>Ctg	p.L3849L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3849					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCACAGGCAAGACAGCAAAT	0.463																																						uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11545-11547)TTG>CTG		fibrocystin isoform 1							93.0	88.0	90.0					6																	51497483		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51497483A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11545T>C	6.37:g.51497483A>G							p.L3849L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			65	11821	-	Lung NSC(77;0.0605)		3849			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11545T>C	CCDS4935.1																																																																																				0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		4	5	0	0	0	0.009096	0	4	5		
FILIP1	27145	broad.mit.edu	37	6	76023470	76023470	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:76023470G>T	ENST00000237172.7	-	5	2408	c.2078C>A	c.(2077-2079)gCa>gAa	p.A693E	FILIP1_ENST00000393004.2_Missense_Mutation_p.A693E|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A594E	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	693										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTCTCTATTGCTTTATTCTT	0.428																																						uc003pia.2		NaN																	0				skin(3)|ovary(1)	4						c.(2077-2079)GCA>GAA		filamin A interacting protein 1							209.0	211.0	210.0					6																	76023470		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023470G>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2078C>A	6.37:g.76023470G>T	ENSP00000237172:p.Ala693Glu					FILIP1_uc003phy.1_Missense_Mutation_p.A693E|FILIP1_uc003phz.2_Missense_Mutation_p.A594E|FILIP1_uc010kbe.2_Missense_Mutation_p.A696E|FILIP1_uc003pib.1_Missense_Mutation_p.A445E	p.A693E	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2451	-			693			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2078C>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	7.250	0.603017	0.13939	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17854	2.25;2.25;2.26	5.66	5.66	0.87406	.	0.050271	0.85682	D	0.000000	T	0.19644	0.0472	L	0.44542	1.39	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.973;0.979;0.991	T	0.01413	-1.1361	10	0.02654	T	1	-21.3024	19.7566	0.96296	0.0:0.0:1.0:0.0	.	693;693;693	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	E	693;693;594	ENSP00000376728:A693E;ENSP00000237172:A693E;ENSP00000359037:A594E	ENSP00000237172:A693E	A	-	2	0	FILIP1	76080190	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.717000	0.68446	2.671000	0.90904	0.563000	0.77884	GCA		0.428	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1		XM_029179		75	131	1	0	3.82274e-22	0.01441	4.56605e-22	75	131		
UTRN	7402	broad.mit.edu	37	6	144794859	144794859	+	Missense_Mutation	SNP	G	G	A	rs370435884	byFrequency	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:144794859G>A	ENST00000367545.3	+	23	3070	c.3070G>A	c.(3070-3072)Gat>Aat	p.D1024N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1024					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGATTAGGCCGATTCAACAGT	0.458													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16959	0.0		0.0	False		,,,				2504	0.0					uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(3070-3072)GAT>AAT		utrophin		G	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	131.0	116.0	121.0		3070	3.2	1.0	6		121	0,8600		0,0,4300	no	missense	UTRN	NM_007124.2	23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	1024/3434	144794859	2,13004	2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144794859G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3070G>A	6.37:g.144794859G>A	ENSP00000356515:p.Asp1024Asn					UTRN_uc010khq.1_Missense_Mutation_p.D1024N	p.D1024N	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	23	3162	+		Ovarian(120;0.218)	1024			Spectrin 7.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.3070G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764834	0.31228	4.54E-4	0.0	ENSG00000152818	ENST00000367545	T	0.54279	0.58	6.04	3.21	0.36854	.	0.238642	0.29459	N	0.012084	T	0.25344	0.0616	L	0.54323	1.7	0.80722	D	1	B	0.22909	0.077	B	0.21708	0.036	T	0.05649	-1.0872	10	0.25751	T	0.34	.	7.7237	0.28746	0.1735:0.2308:0.5957:0.0	.	1024	P46939	UTRO_HUMAN	N	1024	ENSP00000356515:D1024N	ENSP00000356515:D1024N	D	+	1	0	UTRN	144836552	1.000000	0.71417	0.998000	0.56505	0.310000	0.27922	2.218000	0.42889	0.388000	0.25054	0.563000	0.77884	GAT		0.458	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				26	32	0	0	0	0.005443	0	26	32		
SYNE1	23345	broad.mit.edu	37	6	152651117	152651117	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:152651117C>A	ENST00000367255.5	-	78	15304	c.14703G>T	c.(14701-14703)agG>agT	p.R4901S	SYNE1_ENST00000265368.4_Missense_Mutation_p.R4901S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R4830S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4648S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4830S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4901					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTCACTCTCCTCAGCCAGT	0.517										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14701-14703)AGG>AGT		spectrin repeat containing, nuclear envelope 1							124.0	122.0	122.0					6																	152651117		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651117C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14703G>T	6.37:g.152651117C>A	ENSP00000356224:p.Arg4901Ser	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R4830S|SYNE1_uc003qou.3_Missense_Mutation_p.R4901S|SYNE1_uc010kiz.2_Missense_Mutation_p.R656S	p.R4901S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15305	-		Ovarian(120;0.0955)	4901			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14703G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	7.048	0.563977	0.13498	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.78	3.6	0.41247	.	0.000000	0.64402	D	0.000004	T	0.29783	0.0744	L	0.50333	1.59	0.32517	N	0.536796	D;B;B;B	0.53462	0.96;0.091;0.091;0.147	P;B;B;B	0.54544	0.755;0.025;0.025;0.056	T	0.14587	-1.0467	10	0.07175	T	0.84	.	9.3635	0.38210	0.0:0.6354:0.0:0.3646	.	4901;4901;4901;4830	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	4901;4830;4901;4830;4648	ENSP00000356224:R4901S;ENSP00000396024:R4830S;ENSP00000265368:R4901S;ENSP00000390975:R4830S;ENSP00000341887:R4648S	ENSP00000265368:R4901S	R	-	3	2	SYNE1	152692810	0.584000	0.26766	0.951000	0.38953	0.994000	0.84299	0.311000	0.19380	0.703000	0.31848	0.591000	0.81541	AGG		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		40	72	1	0	6.33695e-27	0.007835	7.63987e-27	40	72		
DGKB	1607	broad.mit.edu	37	7	14775768	14775768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:14775768C>T	ENST00000403951.2	-	5	639	c.220G>A	c.(220-222)Gag>Aag	p.E74K	DGKB_ENST00000399322.3_Missense_Mutation_p.E74K|DGKB_ENST00000407950.1_Missense_Mutation_p.E67K|DGKB_ENST00000402815.1_Missense_Mutation_p.E74K|DGKB_ENST00000406247.3_Missense_Mutation_p.E74K|DGKB_ENST00000258767.5_Missense_Mutation_p.E74K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.E67K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	74					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TCAGGAAGCTCGGCTTCCAGG	0.358																																						uc003ssz.2		NaN																	0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(220-222)GAG>AAG		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						59.0	58.0	58.0					7																	14775768		1837	4098	5935	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14775768C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.220G>A	7.37:g.14775768C>T	ENSP00000385780:p.Glu74Lys					DGKB_uc011jxt.1_Missense_Mutation_p.E67K|DGKB_uc003sta.2_Missense_Mutation_p.E74K|DGKB_uc011jxu.1_Missense_Mutation_p.E74K|DGKB_uc011jxv.1_Missense_Mutation_p.E74K	p.E74K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			4	407	-			74					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.220G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494596	0.85069	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.81	5.81	0.92471	.	0.168908	0.51477	D	0.000095	T	0.48241	0.1489	M	0.72118	2.19	0.49051	D	0.999747	P;B;P;P	0.48764	0.915;0.423;0.651;0.896	B;B;B;B	0.35655	0.194;0.207;0.207;0.105	T	0.59490	-0.7445	10	0.72032	D	0.01	.	18.8376	0.92169	0.0:1.0:0.0:0.0	.	74;67;74;74	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	K	74;74;74;74;67;67;74;74	ENSP00000385780:E74K;ENSP00000382260:E74K;ENSP00000258767:E74K;ENSP00000384909:E74K;ENSP00000385031:E67K;ENSP00000388451:E67K;ENSP00000386066:E74K;ENSP00000405569:E74K	ENSP00000258767:E74K	E	-	1	0	DGKB	14742293	1.000000	0.71417	0.966000	0.40874	0.979000	0.70002	6.256000	0.72473	2.739000	0.93911	0.563000	0.77884	GAG		0.358	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2		NM_004080		13	14	0	0	0	0.00245	0	13	14		
ABCB5	340273	broad.mit.edu	37	7	20744417	20744417	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:20744417C>G	ENST00000404938.2	+	20	3060	c.2408C>G	c.(2407-2409)gCa>gGa	p.A803G	ABCB5_ENST00000258738.6_Missense_Mutation_p.A358G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	803	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAGATATAGCACAAATTCAA	0.363																																						uc003suw.3		NaN																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1072-1074)GCA>GGA		ATP-binding cassette, sub-family B, member 5							141.0	133.0	136.0					7																	20744417		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20744417C>G	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2408C>G	7.37:g.20744417C>G	ENSP00000384881:p.Ala803Gly					ABCB5_uc010kuh.2_Missense_Mutation_p.A803G	p.A358G	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			11	1619	+			358			Extracellular (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1073C>G	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631548	0.46944	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90004	-2.6;-2.6	4.66	4.66	0.58398	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.108055	0.39909	N	0.001238	D	0.88937	0.6573	M	0.62088	1.915	0.40774	D	0.983114	B;B	0.25206	0.054;0.12	B;B	0.34873	0.101;0.191	D	0.87775	0.2608	10	0.51188	T	0.08	.	15.4402	0.75176	0.0:1.0:0.0:0.0	.	803;358	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	G	803;358	ENSP00000384881:A803G;ENSP00000258738:A358G	ENSP00000258738:A358G	A	+	2	0	ABCB5	20710942	1.000000	0.71417	0.996000	0.52242	0.700000	0.40528	3.087000	0.50167	2.591000	0.87537	0.462000	0.41574	GCA		0.363	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2		NM_178559		17	28	0	0	0	0.007413	0	17	28		
DNAH11	8701	broad.mit.edu	37	7	21788260	21788260	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:21788260G>A	ENST00000409508.3	+	52	8604	c.8573G>A	c.(8572-8574)gGc>gAc	p.G2858D	DNAH11_ENST00000328843.6_Missense_Mutation_p.G2865D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2865	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAGTTGGGGGCAGTGGCAAG	0.557									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(8593-8595)GGC>GAC		dynein, axonemal, heavy chain 11							73.0	75.0	75.0					7																	21788260		1982	4164	6146	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21788260G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8573G>A	7.37:g.21788260G>A	ENSP00000475939:p.Gly2858Asp						p.G2865D	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			53	8625	+			2865			ATP (Potential).|AAA 4 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8594G>A		.	.	.	.	.	.	.	.	.	.	G	25.1	4.607646	0.87157	.	.	ENSG00000105877	ENST00000328843	D	0.90620	-2.7	5.95	5.07	0.68467	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.044496	0.85682	N	0.000000	D	0.94984	0.8377	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95337	0.8435	9	0.87932	D	0	.	12.8315	0.57748	0.1348:0.0:0.8652:0.0	.	2865	Q96DT5	DYH11_HUMAN	D	2865	ENSP00000330671:G2865D	ENSP00000330671:G2865D	G	+	2	0	DNAH11	21754785	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.690000	0.98676	1.516000	0.48900	0.650000	0.86243	GGC		0.557	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		8	15	0	0	0	0.004482	0	8	15		
HOXA2	3199	broad.mit.edu	37	7	27140478	27140478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:27140478C>T	ENST00000222718.5	-	2	1308	c.998G>A	c.(997-999)tGc>tAc	p.C333Y	HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	333					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAGCTGCAGGCAGGAATCTGT	0.502																																						uc003syh.2		NaN																	0				ovary(1)|skin(1)	2						c.(997-999)TGC>TAC		homeobox A2							78.0	78.0	78.0					7																	27140478		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27140478C>T		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.998G>A	7.37:g.27140478C>T	ENSP00000222718:p.Cys333Tyr						p.C333Y	NM_006735	NP_006726	O43364	HXA2_HUMAN			2	1273	-			333					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.998G>A	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582265	0.65992	.	.	ENSG00000105996	ENST00000222718	T	0.10860	2.83	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	M	0.79123	2.44	0.80722	D	1	P	0.36587	0.559	B	0.31614	0.133	T	0.04153	-1.0973	10	0.62326	D	0.03	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	333	O43364	HXA2_HUMAN	Y	333	ENSP00000222718:C333Y	ENSP00000222718:C333Y	C	-	2	0	HOXA2	27107003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.419000	0.80179	2.492000	0.84095	0.655000	0.94253	TGC		0.502	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2				102	106	0	0	0	0.01441	0	102	106		
C7orf25	79020	broad.mit.edu	37	7	42950479	42950479	+	Silent	SNP	G	G	A	rs113806989		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:42950479G>A	ENST00000350427.4	-	2	296	c.21C>T	c.(19-21)ctC>ctT	p.L7L	C7orf25_ENST00000447342.1_Silent_p.L7L|C7orf25_ENST00000438029.1_Silent_p.L7L|C7orf25_ENST00000431882.2_Silent_p.L65L|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	7										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTCGTTCACAGAGCATGGAAT	0.423																																						uc003thw.2		NaN																	0				skin(1)	1						c.(19-21)CTC>CTT		hypothetical protein LOC79020 b							130.0	126.0	127.0					7																	42950479		2203	4300	6503	SO:0001819	synonymous_variant	79020							g.chr7:42950479G>A	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.21C>T	7.37:g.42950479G>A						C7orf25_uc010kxq.2_Silent_p.L7L|C7orf25_uc003thx.3_Silent_p.L65L|C7orf25_uc010kxr.2_Silent_p.L65L	p.L7L	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN			2	485	-			7					A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	37	c.21C>T	CCDS5466.1																																																																																				0.423	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2		NM_024054		141	172	0	0	0	0.01441	0	141	172		
PNMA2	10687	broad.mit.edu	37	8	26365183	26365183	+	Silent	SNP	G	G	A	rs202002019		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:26365183G>A	ENST00000522362.2	-	3	1983	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	363					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		GTTTTCAGTCGTCTCCCTCAT	0.473																																						uc003xez.2		NaN																	0					0						c.(1087-1089)GAC>GAT		paraneoplastic antigen MA2		G		0,4406		0,0,2203	97.0	99.0	99.0		1089	-8.6	0.0	8		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PNMA2	NM_007257.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		363/365	26365183	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10687				apoptosis	nucleolus	protein binding	g.chr8:26365183G>A		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.1089C>T	8.37:g.26365183G>A							p.D363D	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1859	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	363					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Silent	SNP	ENST00000522362.2	37	c.1089C>T	CCDS34868.1																																																																																				0.473	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2		NM_007257		74	87	0	0	0	0.01441	0	74	87		
ADRA1A	148	broad.mit.edu	37	8	26721924	26721924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:26721924G>A	ENST00000519229.1	-	1	569	c.563C>T	c.(562-564)tCa>tTa	p.S188L	ADRA1A_ENST00000380572.3_Missense_Mutation_p.S188L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.S188L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.S188L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.S188L|ADRA1A_ENST00000380586.1_Missense_Mutation_p.S188L|ADRA1A_ENST00000380573.3_Missense_Mutation_p.S188L|ADRA1A_ENST00000380581.2_Missense_Mutation_p.S188L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.S188L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.S188L			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	258					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCCCAGCGCTGAGAAGAGCAC	0.637																																						uc003xfh.1		NaN																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(562-564)TCA>TTA		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						29.0	31.0	30.0					8																	26721924		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26721924G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.563C>T	8.37:g.26721924G>A	ENSP00000430793:p.Ser188Leu					ADRA1A_uc003xfc.1_Missense_Mutation_p.S188L|ADRA1A_uc010lul.1_Missense_Mutation_p.S188L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.S188L|ADRA1A_uc010lum.1_Missense_Mutation_p.S188L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.S188L	p.S188L	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	1	999	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	188			Helical; Name=5; (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.563C>T		.	.	.	.	.	.	.	.	.	.	g	28.5	4.921808	0.92319	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.997;0.997	D	0.88377	0.2999	10	0.87932	D	0	.	18.5126	0.90923	0.0:0.0:1.0:0.0	.	188;188;188;188;188;188	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	L	188	ENSP00000369960:S188L;ENSP00000369961:S188L;ENSP00000369956:S188L;ENSP00000369955:S188L;ENSP00000430793:S188L;ENSP00000346557:S188L;ENSP00000276393:S188L;ENSP00000369947:S188L;ENSP00000369946:S188L;ENSP00000351725:S188L	ENSP00000276393:S188L	S	-	2	0	ADRA1A	26777841	1.000000	0.71417	0.959000	0.39883	0.979000	0.70002	9.813000	0.99286	2.530000	0.85305	0.558000	0.71614	TCA		0.637	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1		NM_033303		16	23	0	0	0	0.006122	0	16	23		
IL7	3574	broad.mit.edu	37	8	79650798	79650798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:79650798C>G	ENST00000263851.4	-	4	901	c.301G>C	c.(301-303)Gat>Cat	p.D101H	IL7_ENST00000541183.1_Intron|IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	101					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						AAGTGGAGATCAAAATCACCA	0.353																																						uc003ybg.2		NaN																	0					0						c.(301-303)GAT>CAT		interleukin 7 precursor							78.0	81.0	80.0					8																	79650798		2203	4300	6503	SO:0001583	missense	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79650798C>G	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.301G>C	8.37:g.79650798C>G	ENSP00000263851:p.Asp101His					IL7_uc003ybe.2_Intron|IL7_uc011lfm.1_Intron|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA	p.D101H	NM_000880	NP_000871	P13232	IL7_HUMAN			4	902	-			101					A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	c.301G>C	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	C	9.552	1.116163	0.20795	.	.	ENSG00000104432	ENST00000263851	T	0.44881	0.91	5.14	-2.49	0.06403	.	1.429120	0.03780	N	0.261172	T	0.28433	0.0703	N	0.14661	0.345	0.09310	N	1	P	0.40731	0.728	B	0.43575	0.424	T	0.15665	-1.0429	9	.	.	.	.	6.2435	0.20803	0.0:0.246:0.1442:0.6098	.	101	P13232	IL7_HUMAN	H	101	ENSP00000263851:D101H	.	D	-	1	0	IL7	79813353	0.126000	0.22350	0.004000	0.12327	0.022000	0.10575	0.081000	0.14823	-0.522000	0.06417	-0.136000	0.14681	GAT		0.353	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1				16	36	0	0	0	0.003163	0	16	36		
TRHR	7201	broad.mit.edu	37	8	110100415	110100415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:110100415C>T	ENST00000518632.1	+	2	1025	c.674C>T	c.(673-675)tCa>tTa	p.S225L	TRHR_ENST00000311762.2_Missense_Mutation_p.S225L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	225					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCCATTCCTTCAGATCCTAAA	0.368																																						uc003ymz.3		NaN																	0				skin(2)|lung(1)	3						c.(673-675)TCA>TTA		thyrotropin-releasing hormone receptor							72.0	70.0	71.0					8																	110100415		2203	4299	6502	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100415C>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.674C>T	8.37:g.110100415C>T	ENSP00000430711:p.Ser225Leu						p.S225L	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	690	+			225			Cytoplasmic (Potential).		Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.674C>T	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586771	0.46110	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.70986	-0.53;-0.53	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.118034	0.64402	D	0.000011	T	0.72503	0.3468	M	0.66560	2.04	0.80722	D	1	B	0.19583	0.037	B	0.29077	0.098	T	0.66396	-0.5934	10	0.27082	T	0.32	-3.6223	18.9909	0.92791	0.0:1.0:0.0:0.0	.	225	P34981	TRFR_HUMAN	L	225	ENSP00000430711:S225L;ENSP00000309818:S225L	ENSP00000309818:S225L	S	+	2	0	TRHR	110169591	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.481000	0.81124	2.733000	0.93635	0.655000	0.94253	TCA		0.368	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1				23	26	0	0	0	0.012319	0	23	26		
TRPS1	7227	broad.mit.edu	37	8	116599372	116599372	+	Silent	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:116599372C>A	ENST00000220888.5	-	4	2676	c.2517G>T	c.(2515-2517)gcG>gcT	p.A839A	TRPS1_ENST00000395715.3_Silent_p.A852A|TRPS1_ENST00000519076.1_Silent_p.A593A|TRPS1_ENST00000520276.1_Silent_p.A843A|TRPS1_ENST00000519674.1_Silent_p.A839A			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	839					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAATAGGTCGCGCCAGATGGG	0.607									Langer-Giedion syndrome																													uc003ynz.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2515-2517)GCG>GCT		zinc finger transcription factor TRPS1							40.0	43.0	42.0					8																	116599372		1840	4089	5929	SO:0001819	synonymous_variant	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599372C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2517G>T	8.37:g.116599372C>A						TRPS1_uc011lhy.1_Silent_p.A843A|TRPS1_uc003yny.2_Silent_p.A852A|TRPS1_uc010mcy.2_Silent_p.A839A	p.A839A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2976	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		839					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.2517G>T																																																																																					0.607	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3		NM_014112		22	26	1	0	3.11337e-16	0.013726	3.49239e-16	22	26		
KDM6A	7403	broad.mit.edu	37	X	44913157	44913157	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:44913157G>T	ENST00000377967.4	+	10	873	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E278*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E278*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E278*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	278	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAGTCCTTGGAAGCAGATCC	0.408			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		10	Whole gene deletion(6)|No detectable mRNA/protein(4)		haematopoietic_and_lymphoid_tissue(4)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(832-834)GAA>TAA		ubiquitously transcribed tetratricopeptide							155.0	133.0	141.0					X																	44913157		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44913157G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.832G>T	X.37:g.44913157G>T	ENSP00000367203:p.Glu278*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.E278*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.E278*|KDM6A_uc011mla.1_Nonsense_Mutation_p.E278*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.E278*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.E27*	p.E278*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			10	1207	+			278			TPR 5.		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.832G>T	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	37	6.420247	0.97550	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.2091	18.4558	0.90720	0.0:0.0:1.0:0.0	.	.	.	.	X	278	.	ENSP00000367203:E278X	E	+	1	0	KDM6A	44798101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.387000	0.81309	0.538000	0.68166	GAA		0.408	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		53	9	1	0	7.47603e-22	0.01441	8.84777e-22	53	9		
THOC2	57187	broad.mit.edu	37	X	122753270	122753270	+	Silent	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:122753270G>C	ENST00000245838.8	-	33	4324	c.4293C>G	c.(4291-4293)ctC>ctG	p.L1431L	THOC2_ENST00000491737.1_Silent_p.L1316L|THOC2_ENST00000355725.4_Silent_p.L1431L|THOC2_ENST00000497887.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1431	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAGATTCCTTGAGTTCGATGA	0.393																																						uc004etu.2		NaN																	0				ovary(3)	3						c.(4291-4293)CTC>CTG		THO complex 2							98.0	85.0	89.0					X																	122753270		1865	4090	5955	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122753270G>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4293C>G	X.37:g.122753270G>C						THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Silent_p.L252L	p.L1431L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			33	4325	-			1431			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.4293C>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743791	0.15642	.	.	ENSG00000125676	ENST00000448128;ENST00000441692	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4393	12.4772	0.55821	0.0779:0.0:0.9221:0.0	.	.	.	.	X	27;226	.	.	S	-	2	0	THOC2	122580951	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.930000	0.70104	2.459000	0.83118	0.506000	0.49869	TCA		0.393	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3				5	1	0	0	0	0.001168	0	5	1		
UTY	7404	broad.mit.edu	37	Y	15591422	15591422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrY:15591422C>A	ENST00000331397.4	-	1	1131	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	UTY_ENST00000540140.1_Nonsense_Mutation_p.E42*|UTY_ENST00000362096.4_Nonsense_Mutation_p.E42*|UTY_ENST00000545955.1_Nonsense_Mutation_p.E42*|UTY_ENST00000537580.1_Nonsense_Mutation_p.E42*|UTY_ENST00000329134.5_Nonsense_Mutation_p.E42*|UTY_ENST00000538878.1_Nonsense_Mutation_p.E42*|UTY_ENST00000382893.1_Nonsense_Mutation_p.E42*|UTY_ENST00000474365.1_5'Flank|UTY_ENST00000382896.4_Nonsense_Mutation_p.E42*	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	42					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						GCCTCCCTTTCCTCGACTGTC	0.607																																					Colon(103;1740 2135 40732 45171)	uc004fsx.1		NaN																	0					0						c.(124-126)GAA>TAA		tetratricopeptide repeat protein isoform 3							71.0	73.0	72.0					Y																	15591422		588	1937	2525	SO:0001587	stop_gained	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15591422C>A	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.124G>T	Y.37:g.15591422C>A	ENSP00000328939:p.Glu42*					UTY_uc004fsy.2_Nonsense_Mutation_p.E42*|UTY_uc004fsz.2_Nonsense_Mutation_p.E42*	p.E42*	NM_007125	NP_009056	O14607	UTY_HUMAN			1	1129	-			42					A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Nonsense_Mutation	SNP	ENST00000331397.4	37	c.124G>T	CCDS14783.1																																																																																				0.607	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1		NM_182660		20	2	1	0	7.88262e-20	0.00333	9.16089e-20	20	2		
LAD1	3898	broad.mit.edu	37	1	201355634	201355635	+	Frame_Shift_Ins	INS	-	-	G	rs140126456		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:201355634_201355635insG	ENST00000391967.2	-	3	1155_1156	c.854_855insC	c.(853-855)acafs	p.T285fs	LAD1_ENST00000367313.3_Frame_Shift_Ins_p.T299fs|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	285						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTCTGAGGCTGTGGCCCTCTT	0.634																																						uc001gwm.2		NaN																	0					0						c.(853-855)ACAfs		ladinin 1																																				SO:0001589	frameshift_variant	3898					basement membrane	structural molecule activity	g.chr1:201355634_201355635insG	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.855dupC	1.37:g.201355635_201355635dupG	ENSP00000375829:p.Thr285fs					LAD1_uc009wzu.1_Frame_Shift_Ins_p.T307fs	p.T285fs	NM_005558	NP_005549	O00515	LAD1_HUMAN			3	1089_1090	-			285					O95614|Q96GD8	Frame_Shift_Ins	INS	ENST00000391967.2	37	c.854_855insC	CCDS1410.1																																																																																				0.634	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1		NM_005558		8	193	NaN	NaN	NaN	NaN	NaN	8	193	---	---
TMEM199	147007	broad.mit.edu	37	17	26684390	26684391	+	5'Flank	INS	-	-	C	rs11448856|rs67934205		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:26684390_26684391insC	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000540200.1_Frame_Shift_Ins_p.P28fs|TMEM199_ENST00000509083.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCACAGAGCGGCTTTGCCACCG	0.762													?|C|CC|unsure	5008	1.0	1.0	1.0	5008	,	,		11683	1.0		1.0	False		,,,				2504	1.0					uc002haz.2		NaN																	0					0						c.e3+0		DNA polymerase delta interacting protein 2				2752,40		1369,14,13						3.8	0.1		dbSNP_130	4	6434,100		3190,54,23	no	frameshift	POLDIP2	NM_015584.3		4559,68,36	A1A1,A1R,RR		1.5305,1.4327,1.5012				9186,140				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684390_26684391insC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684391_26684391dupC	Exception_encountered					POLDIP2_uc010wag.1_RNA|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank	p.P27_splice	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	3	211	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37	c.79_splice	CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2		NM_152464		4	4	NaN	NaN	NaN	NaN	NaN	4	4	---	---
LPHN1	22859	broad.mit.edu	37	19	14272185	14272186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:14272185_14272186insC	ENST00000340736.6	-	7	1760_1761	c.1463_1464insG	c.(1462-1464)gtcfs	p.V488fs	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'Flank|LPHN1_ENST00000361434.3_Frame_Shift_Ins_p.V483fs	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	488					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGGCCACTGGACCCGCCGTAC	0.713																																						uc010xnn.1		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(1462-1464)GTCfs		latrophilin 1 isoform 1 precursor																																				SO:0001589	frameshift_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14272185_14272186insC	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1463_1464insG	19.37:g.14272185_14272186insC	ENSP00000340688:p.Val488fs					LPHN1_uc010xno.1_Frame_Shift_Ins_p.V483fs|uc002myf.2_Intron	p.V488fs	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			7	1759_1760	-			488			Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Frame_Shift_Ins	INS	ENST00000340736.6	37	c.1463_1464insG	CCDS32928.1																																																																																				0.713	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1		NM_014921		8	23	NaN	NaN	NaN	NaN	NaN	8	23	---	---
GKN1	56287	broad.mit.edu	37	2	69201773	69201774	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:69201773_69201774insG	ENST00000377938.2	+	1	69_70	c.6_7insG	c.(7-9)gccfs	p.A3fs		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	3					digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						GGTCCATGCTTGCCTACTCCTC	0.411																																						uc002sfc.2		NaN																	0				breast(1)	1						c.(4-9)CTTGCCfs		18 kDa antrum mucosa protein precursor																																				SO:0001589	frameshift_variant	56287				digestion|positive regulation of cell division	extracellular region		g.chr2:69201773_69201774insG	AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"""BRICHOS domain containing"""	23217	protein-coding gene	gene with protein product	"""BRICHOS domain containing 1"""	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.7dupG	2.37:g.69201774_69201774dupG	ENSP00000367172:p.Ala3fs						p.L2fs	NM_019617	NP_062563	Q9NS71	GKN1_HUMAN			1	69_70	+			2_3					Q8IUA9	Frame_Shift_Ins	INS	ENST00000377938.2	37	c.6_7insG	CCDS1891.2																																																																																				0.411	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2		NM_019617		33	37	NaN	NaN	NaN	NaN	NaN	33	37	---	---
GPM6A	2823	broad.mit.edu	37	4	176622885	176622885	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:176622885delC	ENST00000280187.7	-	3	116	c.71delG	c.(70-72)ggcfs	p.G24fs	GPM6A_ENST00000515090.1_Frame_Shift_Del_p.G17fs|GPM6A_ENST00000393658.2_Frame_Shift_Del_p.G24fs|GPM6A_ENST00000506894.1_Frame_Shift_Del_p.G13fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	24					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATAGGGAATGCCCCCCAGGCA	0.428																																						uc003iuf.2		NaN																	0					0						c.(70-72)GGCfs		glycoprotein M6A isoform 2							85.0	84.0	85.0					4																	176622885		2203	4300	6503	SO:0001589	frameshift_variant	2823					cell surface|integral to membrane		g.chr4:176622885delC		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.71delG	4.37:g.176622885delC	ENSP00000280187:p.Gly24fs					GPM6A_uc011ckj.1_Frame_Shift_Del_p.G17fs|GPM6A_uc003iug.2_Frame_Shift_Del_p.G24fs|GPM6A_uc003iuh.2_Frame_Shift_Del_p.G13fs	p.G24fs	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	2	875	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	24			Helical; (Potential).		B7Z642|E9PHI5|Q92602	Frame_Shift_Del	DEL	ENST00000280187.7	37	c.71delG	CCDS3824.1																																																																																				0.428	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1				23	52	NaN	NaN	NaN	NaN	NaN	23	52	---	---
SPTAN1	6709	broad.mit.edu	37	9	131374468	131374469	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr9:131374468_131374469insT	ENST00000372731.4	+	38	5081_5082	c.4971_4972insT	c.(4972-4974)aacfs	p.N1658fs	SPTAN1_ENST00000372739.3_Frame_Shift_Ins_p.N1663fs|SPTAN1_ENST00000358161.5_Frame_Shift_Ins_p.N1663fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1658					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAAAGAAGCCAACAAGCAGCA	0.53																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4969-4974)GCCAACfs		spectrin, alpha, non-erythrocytic 1																																				SO:0001589	frameshift_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131374468_131374469insT	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	Exception_encountered	9.37:g.131374468_131374469insT	ENSP00000361816:p.Asn1658fs					SPTAN1_uc004bvm.3_Frame_Shift_Ins_p.A1662fs|SPTAN1_uc004bvn.3_Frame_Shift_Ins_p.A1637fs	p.A1657fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			38	5084_5085	+			1657_1658			Spectrin 18.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Ins	INS	ENST00000372731.4	37	c.4971_4972insT	CCDS6905.1																																																																																				0.530	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		82	12	NaN	NaN	NaN	NaN	NaN	82	12	---	---
STAG2	10735	broad.mit.edu	37	X	123211880	123211881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:123211880_123211881insT	ENST00000371160.1	+	27	3037_3038	c.2747_2748insT	c.(2746-2751)gctaagfs	p.K917fs	STAG2_ENST00000371144.3_Frame_Shift_Ins_p.K917fs|STAG2_ENST00000354548.5_Frame_Shift_Ins_p.K848fs|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.K917fs|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.K917fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.K917fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	917					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATTCAGTGTGCTAAGACCCTTA	0.322																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(2746-2748)GCTfs		stromal antigen 2 isoform b																																				SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123211880_123211881insT	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2748dupT	X.37:g.123211881_123211881dupT	ENSP00000360202:p.Lys917fs					STAG2_uc004eua.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004eub.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004euc.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004eud.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004eue.2_Frame_Shift_Ins_p.A916fs	p.A916fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			26	3086_3087	+			916					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Ins	INS	ENST00000371160.1	37	c.2747_2748insT	CCDS14607.1																																																																																				0.322	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		47	6	NaN	NaN	NaN	NaN	NaN	47	6	---	---
