#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
COL4A2	1284	genome.wustl.edu	37	13	111109461	111109461	+	Intron	SNP	A	A	G	rs9515215	byFrequency	TCGA-EW-A1P7-01A-21D-A142-09	TCGA-EW-A1P7-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	402abf40-5a01-467d-a5be-b9101743f34b	4b8b9e5a-517f-4c80-862a-032f78617cce	g.chr13:111109461A>G	ENST00000360467.5	+	21	1645				COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GATGCCGTGCATCTGCGTGGG	0.731													-|||	1807	0.360823	0.3669	0.4885	5008	,	,		6676	0.3254		0.3688	False		,,,				2504	0.2904					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1340-229A>G	13.37:g.111109461A>G			Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	NULL	p.M241T	ENST00000360467.5	37	c.722	CCDS41907.1	13	616	0.28205128205128205	144	0.2926829268292683	124	0.3425414364640884	185	0.32342657342657344	163	0.21503957783641162	-	0.004	-2.303788	0.00240	.	.	ENSG00000224821	ENST00000458403	.	.	.	1.39	-2.79	0.05841	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.51767	P	7.00000000000145E-5	.	.	.	.	.	.	T	0.43228	-0.9404	4	0.11485	T	0.65	.	2.4648	0.04550	0.3017:0.0:0.4375:0.2608	rs9515215	.	.	.	T	241	.	ENSP00000390212:M241T	M	-	2	0	COL4A2-AS2	109907462	0.000000	0.05858	0.015000	0.15790	0.077000	0.17291	-1.285000	0.02791	-0.267000	0.09325	0.149000	0.16113	ATG	COL4A2-AS2	-	NULL	ENSG00000224821		0.731	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2-AS2	HGNC	protein_coding	OTTHUMT00000045761.2	8	0.00	0	A	NM_001846		111109461	111109461	-1	no_errors	ENST00000458403	ensembl	human	putative	69_37n	missense	6	40.00	4	SNP	0.313	G
DNAH3	55567	genome.wustl.edu	37	16	21170742	21170742	+	Silent	SNP	G	G	C			TCGA-EW-A1P7-01A-21D-A142-09	TCGA-EW-A1P7-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	402abf40-5a01-467d-a5be-b9101743f34b	4b8b9e5a-517f-4c80-862a-032f78617cce	g.chr16:21170742G>C	ENST00000261383.3	-	1	20	c.21C>G	c.(19-21)ctC>ctG	p.L7L	TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000572599.1_Intron|DNAH3_ENST00000415178.1_Silent_p.L7L|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000261388.3_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	7	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGTGAGCTCGAGGCGCCCTG	0.627																																						dbGAP											0													71.0	81.0	77.0					16																	21170742		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.21C>G	16.37:g.21170742G>C			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.L7	ENST00000261383.3	37	c.21	CCDS10594.1	16																																																																																			DNAH3	-	NULL	ENSG00000158486		0.627	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	49	0.00	0	G	NM_017539		21170742	21170742	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	silent	26	16.13	5	SNP	0.000	C
IL11RA	3590	genome.wustl.edu	37	9	34655661	34655661	+	Splice_Site	SNP	G	G	A			TCGA-EW-A1P7-01A-21D-A142-09	TCGA-EW-A1P7-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	402abf40-5a01-467d-a5be-b9101743f34b	4b8b9e5a-517f-4c80-862a-032f78617cce	g.chr9:34655661G>A	ENST00000555003.1	+	3	1516	c.160G>A	c.(160-162)Ggg>Agg	p.G54R	IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000441545.2_Splice_Site_p.G54R|IL11RA_ENST00000378817.4_Splice_Site_p.G54R|IL11RA_ENST00000602473.1_Splice_Site_p.G54R|GALT_ENST00000556278.1_Splice_Site_p.G198R|IL11RA_ENST00000318041.9_Splice_Site_p.G54R			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	54	Ig-like C2-type.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGTGACTGCCGGGTAAGTGCC	0.602																																						dbGAP											0													125.0	84.0	98.0					9																	34655661		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.161+1G>A	9.37:g.34655661G>A			Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G54R	ENST00000555003.1	37	c.160	CCDS6567.1	9	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255001	0.39896	.	.	ENSG00000258728;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070	ENST00000556278;ENST00000555003;ENST00000441545;ENST00000556792;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	T;T;T;T;T;T;T;T	0.79454	1.99;1.99;1.99;1.99;1.99;1.99;-1.27;1.99	5.11	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.045980	0.07425	N	0.894653	T	0.70116	0.3187	L	0.46157	1.445	0.38943	D	0.958182	P	0.41947	0.766	B	0.33121	0.158	T	0.70528	-0.4847	10	0.59425	D	0.04	-17.5798	10.7287	0.46083	0.0:0.1931:0.8069:0.0	.	54	Q14626	I11RA_HUMAN	R	198;54;54;54;54;54;54;54	ENSP00000451792:G198R;ENSP00000450565:G54R;ENSP00000394391:G54R;ENSP00000450543:G54R;ENSP00000368094:G54R;ENSP00000326500:G54R;ENSP00000451447:G54R;ENSP00000450640:G54R	ENSP00000326500:G54R	G	+	1	0	RP11-195F19.29;IL11RA	34645661	0.991000	0.36638	1.000000	0.80357	0.580000	0.36256	2.377000	0.44300	2.381000	0.81170	0.561000	0.74099	GGG	IL11RA	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000137070		0.602	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL11RA	HGNC	protein_coding	OTTHUMT00000410625.1	31	0.00	0	G	NM_001142784	Missense_Mutation	34655661	34655661	+1	no_errors	ENST00000318041	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.998	A
MUC12	10071	genome.wustl.edu	37	7	100641798	100641798	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1P7-01A-21D-A142-09	TCGA-EW-A1P7-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	402abf40-5a01-467d-a5be-b9101743f34b	4b8b9e5a-517f-4c80-862a-032f78617cce	g.chr7:100641798C>G	ENST00000379442.3	+	5	8383	c.8383C>G	c.(8383-8385)Cca>Gca	p.P2795A	MUC12_ENST00000536621.1_Missense_Mutation_p.P2652A			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2795	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TACCACAACACCAGGCCTCAG	0.532																																						dbGAP											0													2.0	2.0	2.0					7																	100641798		552	1282	1834	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.8383C>G	7.37:g.100641798C>G	ENSP00000368755:p.Pro2795Ala		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.P2795A	ENST00000379442.3	37	c.8383		7	.	.	.	.	.	.	.	.	.	.	-	0.416	-0.910911	0.02434	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.14391	2.51;2.51	0.704	-1.41	0.08941	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.38908	-0.9639	6	0.07813	T	0.8	.	.	.	.	.	.	.	.	A	2795;2652	ENSP00000368755:P2795A;ENSP00000441929:P2652A	ENSP00000368755:P2795A	P	+	1	0	MUC12	100428518	0.001000	0.12720	0.002000	0.10522	0.031000	0.12232	-0.987000	0.03743	-1.952000	0.01027	-1.436000	0.01078	CCA	MUC12	-	NULL	ENSG00000205277		0.532	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	22	0.00	0	C	XM_379904		100641798	100641798	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.002	G
NTRK1	4914	genome.wustl.edu	37	1	156834219	156834219	+	Splice_Site	SNP	C	C	G			TCGA-EW-A1P7-01A-21D-A142-09	TCGA-EW-A1P7-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	402abf40-5a01-467d-a5be-b9101743f34b	4b8b9e5a-517f-4c80-862a-032f78617cce	g.chr1:156834219C>G	ENST00000524377.1	+	2	327	c.286C>G	c.(286-288)Ctc>Gtc	p.L96V	NTRK1_ENST00000368196.3_Splice_Site_p.L96V|NTRK1_ENST00000358660.3_Splice_Site_p.L96V|NTRK1_ENST00000392302.2_Splice_Site_p.L66V	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	96					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GCTGAGAAACCTGTGAGGGAA	0.627			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												dbGAP		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0													70.0	69.0	70.0					1																	156834219		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.287+1C>G	1.37:g.156834219C>G			B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.L96V	ENST00000524377.1	37	c.286	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339642	0.81911	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55	4.61	4.61	0.57282	.	0.000000	0.50627	D	0.000108	D	0.98466	0.9489	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.964;0.999	D;D;D;D	0.87578	0.998;0.995;0.915;0.997	D	0.99616	1.0982	10	0.72032	D	0.01	.	16.1804	0.81895	0.0:1.0:0.0:0.0	.	96;96;96;66	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	V	66;96;96;96	ENSP00000376120:L66V;ENSP00000357179:L96V;ENSP00000431418:L96V;ENSP00000351486:L96V	ENSP00000351486:L96V	L	+	1	0	NTRK1	155100843	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	3.627000	0.54252	2.387000	0.81309	0.561000	0.74099	CTC	NTRK1	-	prints_Tyr_kinase_NGF_rcpt	ENSG00000198400		0.627	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	55	0.00	0	C	NM_002529	Missense_Mutation	156834219	156834219	+1	no_errors	ENST00000524377	ensembl	human	known	69_37n	missense	81	10.99	10	SNP	1.000	G
OR6B2	389090	genome.wustl.edu	37	2	240969517	240969517	+	Silent	SNP	G	G	A	rs202056999	byFrequency	TCGA-EW-A1P7-01A-21D-A142-09	TCGA-EW-A1P7-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	402abf40-5a01-467d-a5be-b9101743f34b	4b8b9e5a-517f-4c80-862a-032f78617cce	g.chr2:240969517G>A	ENST00000402971.2	-	1	389	c.330C>T	c.(328-330)acC>acT	p.T110T		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCACACACTCGGTGCACACCA	0.627																																						dbGAP											0													19.0	20.0	20.0					2																	240969517		1838	4050	5888	-	-	-	SO:0001819	synonymous_variant	0				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.330C>T	2.37:g.240969517G>A			B2RPR3|Q8NGW0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T110	ENST00000402971.2	37	c.330	CCDS46559.1	2																																																																																			OR6B2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182083		0.627	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	19	0.00	0	G	NM_001005853		240969517	240969517	-1	no_errors	ENST00000402971	ensembl	human	known	69_37n	silent	16	30.43	7	SNP	0.005	A
PRMT8	56341	genome.wustl.edu	37	12	3686131	3686131	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EW-A1P7-01A-21D-A142-09	TCGA-EW-A1P7-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	402abf40-5a01-467d-a5be-b9101743f34b	4b8b9e5a-517f-4c80-862a-032f78617cce	g.chr12:3686131delG	ENST00000382622.3	+	7	1197	c.807delG	c.(805-807)gtgfs	p.V269fs	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Frame_Shift_Del_p.V260fs	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	269	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AGCAAGTGGTGACCAATGCCT	0.587																																						dbGAP											0													239.0	192.0	208.0					12																	3686131		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.807delG	12.37:g.3686131delG	ENSP00000372067:p.Val269fs		B2RDP0|Q8TBJ8	Frame_Shift_Del	DEL	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.T270fs	ENST00000382622.3	37	c.807	CCDS8521.2	12																																																																																			PRMT8	-	pfam_Arg_MeTrfase	ENSG00000111218		0.587	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	26	0.00	0	G	NM_019854		3686131	3686131	+1	no_errors	ENST00000382622	ensembl	human	known	69_37n	frame_shift_del	42	12.24	6	DEL	1.000	-
TTC14	151613	genome.wustl.edu	37	3	180324055	180324055	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1P7-01A-21D-A142-09	TCGA-EW-A1P7-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	402abf40-5a01-467d-a5be-b9101743f34b	4b8b9e5a-517f-4c80-862a-032f78617cce	g.chr3:180324055T>C	ENST00000296015.4	+	8	1076	c.944T>C	c.(943-945)gTt>gCt	p.V315A	TTC14_ENST00000412756.2_Missense_Mutation_p.V315A|TTC14_ENST00000382584.4_Missense_Mutation_p.V315A	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	315							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGATCGGAGTTGACTATTTT	0.328																																						dbGAP											0													152.0	146.0	148.0					3																	180324055		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.944T>C	3.37:g.180324055T>C	ENSP00000296015:p.Val315Ala		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	pfam_TPR-1,superfamily_NA-bd_OB-fold-like,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.V315A	ENST00000296015.4	37	c.944	CCDS3237.1	3	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093872	0.76870	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T;T	0.59638	0.25;0.25;0.25	5.7	4.52	0.55395	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	L	0.35644	1.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.984	D;D;P	0.85130	0.982;0.997;0.847	T	0.67296	-0.5706	10	0.59425	D	0.04	-13.9594	12.7858	0.57504	0.0:0.0:0.137:0.863	.	315;315;315	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	A	315	ENSP00000296015:V315A;ENSP00000413743:V315A;ENSP00000372027:V315A	ENSP00000296015:V315A	V	+	2	0	TTC14	181806749	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.032000	0.88838	0.949000	0.37715	0.533000	0.62120	GTT	TTC14	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000163728		0.328	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC14	HGNC	protein_coding	OTTHUMT00000349786.1	98	0.00	0	T	NM_133462		180324055	180324055	+1	no_errors	ENST00000296015	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179635029	179635029	+	Missense_Mutation	SNP	T	T	A			TCGA-EW-A1P7-01A-21D-A142-09	TCGA-EW-A1P7-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	402abf40-5a01-467d-a5be-b9101743f34b	4b8b9e5a-517f-4c80-862a-032f78617cce	g.chr2:179635029T>A	ENST00000591111.1	-	36	8623	c.8399A>T	c.(8398-8400)aAg>aTg	p.K2800M	TTN_ENST00000589042.1_Missense_Mutation_p.K2800M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K2754M|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K2800M|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.K2800M|TTN_ENST00000460472.2_Missense_Mutation_p.K2754M|TTN_ENST00000342175.6_Missense_Mutation_p.K2754M			Q8WZ42	TITIN_HUMAN	titin	13128					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)			ATCCTTTGGCTTTTTAATGAT	0.398																																						dbGAP											0													103.0	101.0	101.0					2																	179635029		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.8399A>T	2.37:g.179635029T>A	ENSP00000465570:p.Lys2800Met		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K2800M	ENST00000591111.1	37	c.8399		2	.	.	.	.	.	.	.	.	.	.	T	14.31	2.495956	0.44352	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	6.06	6.06	0.98353	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82545	0.5060	M	0.76838	2.35	0.39976	D	0.974857	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.85416	0.1140	9	0.87932	D	0	.	16.6154	0.84909	0.0:0.0:0.0:1.0	.	2754;2754;2754;2800;2800	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	2800;2754;2754;2754;2754;2800	ENSP00000343764:K2800M;ENSP00000434586:K2754M;ENSP00000340554:K2754M;ENSP00000352154:K2754M;ENSP00000354117:K2800M	ENSP00000340554:K2754M	K	-	2	0	TTN	179343274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.315000	0.78130	0.533000	0.62120	AAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	48	0.00	0	T	NM_133378		179635029	179635029	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	66	17.50	14	SNP	1.000	A
