#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_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_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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
SEC14L1	6397	broad.mit.edu	37	17	75208190	75208190	+	Silent	SNP	C	C	T			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr17:75208190C>T	ENST00000413679.2	+	15	2073	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC14L1_ENST00000431431.2_Silent_p.N556N|SEC14L1_ENST00000591437.1_Silent_p.N556N|SEC14L1_ENST00000443798.4_Silent_p.N590N|SEC14L1_ENST00000392476.2_Silent_p.N590N|SEC14L1_ENST00000585618.1_Silent_p.N590N|SEC14L1_ENST00000436233.4_Silent_p.N590N|SEC14L1_ENST00000430767.4_Silent_p.N590N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	590	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CGGGTGGGAACAATGTGCAGC	0.532																																						ENST00000413679.2											0			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1768-1770)aaC>aaT	SEC14-like 1 (S. cerevisiae)						134.0	147.0	143.0					17																	75208190		2203	4300	6503	SO:0001819	synonymous_variant	6397			transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208190C>T	D67029	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28		2008-02-01	2001-11-28			ENSG00000129657		ENSG00000129657				10698	10698	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601504	601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	8697811	Standard	Standard	NM_001143998	NM_001143998		Approved	PRELID4A	uc002jto.3	uc002jto.3	Q92503	Q92503			ENST00000413679.2:c.1770C>T	17.37:g.75208190C>T			SEC14L1_ENST00000431431.2_Silent_p.N556N|SEC14L1_ENST00000436233.4_Silent_p.N590N|SEC14L1_ENST00000443798.4_Silent_p.N590N|SEC14L1_ENST00000591437.1_Silent_p.N556N|SEC14L1_ENST00000430767.4_Silent_p.N590N|SEC14L1_ENST00000392476.2_Silent_p.N590N|SEC14L1_ENST00000585618.1_Silent_p.N590N	p.N590N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN			15	2073	+			590	GOLD.	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1770C>T	CCDS11752.1																																																																																									0.532	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1		197.427364	-28	-28	188	188	NM_003003		72	202.251554	202.251554	140	0.339623	0	0	0	1	0	72	140	0.339623
LRRIQ3	127255	broad.mit.edu	37	1	74507165	74507165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr1:74507165G>A	ENST00000395089.1	-	6	1449	c.1450C>T	c.(1450-1452)Cga>Tga	p.R484*	LRRIQ3_ENST00000354431.4_Nonsense_Mutation_p.R484*			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	484								p.R484R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAAACTTGTCGTAAACTGTTC	0.318																																						ENST00000354431.4											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1450-1452)Cga>Tga	leucine-rich repeats and IQ motif containing 3						126.0	120.0	122.0					1																	74507165		1813	4078	5891	SO:0001587	stop_gained	127255						g.chr1:74507165G>A	BX647210	BX647210	CCDS41350.1	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620	ENSG00000162620	ENSG00000162620				28318	28318	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""leucine rich repeat containing 44"""	LRRC44	"""leucine rich repeat containing 44"""	LRRC44		12477932	12477932	Standard	Standard	NM_001105659	NM_001105659		Approved	MGC22773	uc001dfy.4	uc001dfy.4	A6PVS8	A6PVS8	OTTHUMG00000009508	OTTHUMG00000009508	ENST00000395089.1:c.1450C>T	1.37:g.74507165G>A	ENSP00000378524:p.Arg484*		LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.R484*	p.R484*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			7	1641	-			484		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Nonsense_Mutation	SNP	ENST00000395089.1	37	c.1450C>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118333	0.77323	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	.	.	.	5.77	2.54	0.30619	5.77	2.54	0.30619	.	1.024280	0.07816	N	0.958944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	3.6426	0.08173	0.0904:0.212:0.5437:0.154	.	.	.	.	X	484	.	ENSP00000346414:R484X	R	-	1	2	2	LRRIQ3	74279753	74279753	0.093000	0.21703	0.020000	0.16555	0.014000	0.08584	1.136000	0.31467	0.871000	0.35750	0.585000	0.79938	CGA		0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		98.055179	-38	-38	92	92	NM_145258		33	99.074503	99.074503	53	0.383721	0	0	0	1	0	33	53	0.383721
TTLL2	83887	broad.mit.edu	37	6	167754272	167754272	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr6:167754272C>T	ENST00000239587.5	+	3	972	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	295	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AACAATTATGCCCATTTGACC	0.408																																						ENST00000239587.5											0			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(883-885)gCc>gTc	tubulin tyrosine ligase-like family, member 2						144.0	150.0	148.0					6																	167754272		2203	4300	6503	SO:0001583	missense	83887			protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754272C>T	AK093039	AK093039	CCDS5301.1	CCDS5301.1	6q27	2013-02-14		2004-01-14	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	"""Tubulin tyrosine ligase-like family"""	21211	21211	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 6 open reading frame 104"""	C6orf104	"""chromosome 6 open reading frame 104"""	C6orf104		11054573	11054573	Standard	Standard	XM_006715572	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	uc003qvs.1	Q9BWV7	Q9BWV7	OTTHUMG00000016023	OTTHUMG00000016023	ENST00000239587.5:c.884C>T	6.37:g.167754272C>T	ENSP00000239587:p.Ala295Val			p.A295V	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	972	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	295	TTL.	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.884C>T	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251264	0.39797	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.04603	3.59	3.73	3.73	0.42828	3.73	3.73	0.42828	.	0.294132	0.26700	N	0.022959	T	0.02304	0.0071	N	0.11756	0.17	0.09310	N	1	D	0.54601	0.967	P	0.55785	0.784	T	0.51725	-0.8669	10	0.13470	T	0.59	.	14.615	0.68541	0.0:1.0:0.0:0.0	.	295	Q9BWV7	TTLL2_HUMAN	V	295;222	ENSP00000239587:A295V	ENSP00000239587:A295V	A	+	2	0	0	TTLL2	167674262	167674262	0.988000	0.35896	0.003000	0.11579	0.003000	0.03518	3.921000	0.56454	2.073000	0.62155	0.484000	0.47621	GCC		0.408	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3		-25.220603	-3	-3	181	181	NM_031949		4	6.736323	6.736323	128	0.030303	0	0	0	1	0	4	128	0.030303
NLRC5	84166	broad.mit.edu	37	16	57059885	57059885	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr16:57059885G>A	ENST00000262510.6	+	6	1255	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A344T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A344T|NLRC5_ENST00000436936.1_Missense_Mutation_p.A344T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	344	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGGGTGATGGCTACCTCCCG	0.622																																						ENST00000436936.1											0			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(1030-1032)Gct>Act	NLR family, CARD domain containing 5						43.0	46.0	45.0					16																	57059885		2198	4300	6498	SO:0001583	missense	84166			defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57059885G>A	AF389420	AF389420	CCDS10773.1	CCDS10773.1	16q13	2008-02-05			2008-02-05			ENSG00000140853	ENSG00000140853	ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	29933	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537	613537						12615073	12615073	Standard	Standard	NM_032206	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	uc021tiu.1	Q86WI3	Q86WI3	OTTHUMG00000133470	OTTHUMG00000133470	ENST00000262510.6:c.1030G>A	16.37:g.57059885G>A	ENSP00000262510:p.Ala344Thr		NLRC5_ENST00000539144.1_Missense_Mutation_p.A344T|NLRC5_ENST00000262510.6_Missense_Mutation_p.A344T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A344T	p.A344T			Q86WI3	NLRC5_HUMAN			6	1255	+		all_neural(199;0.225)	344	NACHT.	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1030G>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.751|9.751	1.167452|1.167452	0.21621|0.21621	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144|ENST00000538805	T;T;T;T|.	0.79141|.	-1.24;-1.24;-1.24;-1.24|.	5.48|5.48	2.66|2.66	0.31614|0.31614	5.48|5.48	2.66|2.66	0.31614|0.31614	NACHT nucleoside triphosphatase (1);|.	0.238547|.	0.21764|.	N|.	0.069480|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.08118|0.08118	0|0	0.23341|0.23341	N|N	0.99787|0.99787	B;B;B;B|.	0.25441|.	0.126;0.126;0.056;0.026|.	B;B;B;B|.	0.25140|.	0.039;0.058;0.021;0.036|.	T|T	0.22347|0.22347	-1.0219|-1.0219	10|5	0.25106|.	T|.	0.35|.	.|.	10.6177|10.6177	0.45460|0.45460	0.2271:0.0:0.7729:0.0|0.2271:0.0:0.7729:0.0	.|.	344;344;344;344|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	T|D	344|96	ENSP00000262510:A344T;ENSP00000308886:A344T;ENSP00000389739:A344T;ENSP00000441727:A344T|.	ENSP00000262510:A344T|.	A|G	+|+	1|2	0|0	0|0	NLRC5|NLRC5	55617386|55617386	55617386|55617386	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.633000|0.633000	0.38033|0.38033	1.362000|1.362000	0.34148|0.34148	0.977000|0.977000	0.38444|0.38444	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		0.397264	-21	-21	49	49	NM_032206		3	6.48775	6.487750	32	0.085714	0	0	0	1	0	3	32	0.085714
SPTA1	6708	broad.mit.edu	37	1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A	rs375618954		TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1793					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCCAGCCGCAACTGGATC	0.522																																						ENST00000368147.4											0			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5377-5379)Cgg>Tgg	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	G	TRP/ARG	0,3960		0,0,1980	116.0	123.0	121.0		5377	3.6	1.0	1		121	1,8319		0,1,4159	no	missense	SPTA1	NM_003126.2	101	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	1793/2420	158605758	1,12279	1980	4160	6140	SO:0001583	missense	6708			actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158605758G>A	M61877	M61877	CCDS41423.1	CCDS41423.1	1q21	2014-06-23	2014-06-23		2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	"""EF-hand domain containing"""	11272	11272	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	"""elliptocytosis 2"""	182860	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""		"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""					Standard	Standard	NM_003126	NM_003126		Approved	EL2	uc001fst.1	uc001fst.1	P02549	P02549	OTTHUMG00000019636	OTTHUMG00000019636	ENST00000368147.4:c.5377C>T	1.37:g.158605758G>A	ENSP00000357129:p.Arg1793Trp			p.R1793W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			38	5557	-	all_hematologic(112;0.0378)				Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5377C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033837	0.54896	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56444	0.46;0.46	5.65	3.62	0.41486	5.65	3.62	0.41486	.	0.000000	0.29266	N	0.012655	T	0.70736	0.3258	M	0.89840	3.065	0.50467	D	0.999872	D	0.89917	1.0	D	0.97110	1.0	T	0.78663	-0.2116	10	0.87932	D	0	.	13.3664	0.60687	0.0:0.0:0.6481:0.3519	.	1793	P02549	SPTA1_HUMAN	W	1793	ENSP00000357130:R1793W;ENSP00000357129:R1793W	ENSP00000357129:R1793W	R	-	1	2	2	SPTA1	156872382	156872382	1.000000	0.71417	0.987000	0.45799	0.205000	0.24178	2.658000	0.46733	1.575000	0.49775	0.655000	0.94253	CGG		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		149.055869	-26	-26	106	106	NM_003126		50	150.837665	150.837665	83	0.375940	0	0	0	1	0	50	83	0.37594
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		64.732888	13	13	93	93	NM_002067		22	65.996146	65.996146	41	0.349206	0	0	0	1	0	22	41	0.349206
PREX2	80243	broad.mit.edu	37	8	68992730	68992730	+	Silent	SNP	G	G	T			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr8:68992730G>T	ENST00000288368.4	+	16	1972	c.1695G>T	c.(1693-1695)tcG>tcT	p.S565S	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	565	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTTTTTTCGGATGAGGAAA	0.323																																						ENST00000288368.4											0			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1693-1695)tcG>tcT	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						83.0	84.0	83.0					8																	68992730		2203	4300	6503	SO:0001819	synonymous_variant	80243			G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68992730G>T	AK024079	AK024079	CCDS6201.1	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	"""Rho guanine nucleotide exchange factors"""	22950	22950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	"""protein phosphatase 1, regulatory subunit 129"""	612139	612139	"""DEP domain containing 2"""	DEPDC2	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	15304342, 15304343	Standard	Standard	NM_024870	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	uc003xxv.1	Q70Z35	Q70Z35	OTTHUMG00000164402	OTTHUMG00000164402	ENST00000288368.4:c.1695G>T	8.37:g.68992730G>T			PREX2_ENST00000529398.1_3'UTR	p.S565S	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			16	1972	+			565	DEP 2.	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.1695G>T	CCDS6201.1																																																																																									0.323	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		136.010188	-13	-13	46	46	NM_025170		43	136.689328	136.689328	61	0.413462	1	0	2.77807e-22	1	2.89886e-22	43	61	0.413462
STK36	27148	broad.mit.edu	37	2	219561571	219561571	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr2:219561571G>A	ENST00000392106.2	+	22	2780	c.2514G>A	c.(2512-2514)atG>atA	p.M838I	STK36_ENST00000440309.1_Intron|STK36_ENST00000295709.3_Intron|STK36_ENST00000392105.3_Intron					serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ACATACACATGAGTTGTGAGG	0.458																																						ENST00000392106.2											0			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(2512-2514)atG>atA	serine/threonine kinase 36						104.0	101.0	102.0					2																	219561571		876	1991	2867	SO:0001583	missense	27148			cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219561571G>A	AB033104	AB033104	CCDS2421.1, CCDS58750.1	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482	ENSG00000163482	ENSG00000163482				17209	17209	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	"""fused homolog (Drosophila)"""	607652	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""		"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	10806483	Standard	Standard	NM_001243313	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	uc002viu.3	Q9NRP7	Q9NRP7	OTTHUMG00000133079	OTTHUMG00000133079	ENST00000392106.2:c.2514G>A	2.37:g.219561571G>A	ENSP00000375955:p.Met838Ile		STK36_ENST00000440309.1_Intron|STK36_ENST00000295709.3_Intron|STK36_ENST00000392105.3_Intron	p.M838I			Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	22	2780	+		Renal(207;0.0915)	838			Missense_Mutation	SNP	ENST00000392106.2	37	c.2514G>A		.	.	.	.	.	.	.	.	.	.	G	8.891	0.954096	0.18431	.	.	ENSG00000163482	ENST00000392106	T	0.69806	-0.43	3.67	-0.219	0.13135	3.67	-0.219	0.13135	.	.	.	.	.	T	0.50701	0.1631	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39057	-0.9632	6	0.25106	T	0.35	.	6.0627	0.19846	0.5113:0.0:0.4887:0.0	.	.	.	.	I	838	ENSP00000375955:M838I	ENSP00000375955:M838I	M	+	3	0	0	STK36	219269815	219269815	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.172000	0.16704	-0.203000	0.10251	-0.140000	0.14226	ATG		0.458	STK36-201	KNOWN	basic	protein_coding	protein_coding			106.683336	17	17	69	69			36	106.901962	106.901962	45	0.444444	0	0	0	1	0	36	45	0.444444
MORC3	23515	broad.mit.edu	37	21	37732303	37732303	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr21:37732303G>A	ENST00000400485.1	+	11	1335	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	MORC3_ENST00000487909.1_3'UTR|AP000692.9_ENST00000397184.2_RNA	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	420					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.R420Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTAAAGTGGCGGAAATTACCT	0.418																																						ENST00000400485.1											1	Substitution - Missense(1)	prostate(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1258-1260)cGg>cAg	MORC family CW-type zinc finger 3						194.0	186.0	189.0					21																	37732303		2047	4223	6270	SO:0001583	missense	23515			cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37732303G>A	AK025327	AK025327	CCDS42924.1	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256	ENSG00000159256	ENSG00000159256				23572	23572	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610078	610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	14607086	Standard	Standard	NM_015358	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	uc002yvi.3	Q14149	Q14149	OTTHUMG00000086620	OTTHUMG00000086620	ENST00000400485.1:c.1259G>A	21.37:g.37732303G>A	ENSP00000383333:p.Arg420Gln		MORC3_ENST00000487909.1_3'UTR	p.R420Q	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			11	1335	+			420		A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1259G>A	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	36	5.769731	0.96914	.	.	ENSG00000159256	ENST00000400485	T	0.62364	0.03	5.68	5.68	0.88126	5.68	5.68	0.88126	Zinc finger, CW-type (2);	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	H	0.97077	3.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.90690	0.4612	10	0.72032	D	0.01	-11.5603	19.805	0.96527	0.0:0.0:1.0:0.0	.	420	Q14149	MORC3_HUMAN	Q	420	ENSP00000383333:R420Q	ENSP00000383333:R420Q	R	+	2	0	0	MORC3	36654173	36654173	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.581000	0.98210	2.672000	0.90937	0.557000	0.71058	CGG		0.418	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1		192.060687	-41	-41	113	113	NM_015358		61	192.563836	192.563836	79	0.435714	0	0	0	1	0	61	79	0.435714
EPG5	57724	broad.mit.edu	37	18	43534962	43534962	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr18:43534962T>C	ENST00000282041.5	-	2	440	c.406A>G	c.(406-408)Aag>Gag	p.K136E		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	136					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTGAAGTTCTTGGGGGTTTCT	0.483																																						ENST00000282041.5											0			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(406-408)Aag>Gag	ectopic P-granules autophagy protein 5 homolog (C. elegans)						104.0	98.0	100.0					18																	43534962		1870	4101	5971	SO:0001583	missense	57724			autophagy			g.chr18:43534962T>C	AK023817	AK023817	CCDS11926.2	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	ENSG00000152223	ENSG00000152223				29331	29331	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615068	615068	"""KIAA1632"""	KIAA1632	"""KIAA1632"""	KIAA1632		10997877, 20550938	10997877, 20550938	Standard	Standard	XM_005258323	XM_005258323		Approved	hEPG5	uc002lbm.3	uc002lbm.3	Q9HCE0	Q9HCE0	OTTHUMG00000132626	OTTHUMG00000132626	ENST00000282041.5:c.406A>G	18.37:g.43534962T>C	ENSP00000282041:p.Lys136Glu			p.K136E	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			2	440	-			136		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.406A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708947	0.30322	.	.	ENSG00000152223	ENST00000282041	T	0.10763	2.84	5.76	-1.09	0.09904	5.76	-1.09	0.09904	.	1.162600	0.05964	N	0.641171	T	0.06781	0.0173	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.43327	-0.9398	10	0.21540	T	0.41	-1.3497	6.6903	0.23167	0.0:0.249:0.404:0.347	.	136;136	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	E	136	ENSP00000282041:K136E	ENSP00000282041:K136E	K	-	1	0	0	EPG5	41788960	41788960	0.177000	0.23109	0.040000	0.18447	0.026000	0.11368	0.697000	0.25556	-0.129000	0.11620	-0.371000	0.07208	AAG		0.483	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		133.499155	-1	-1	74	74	NM_020964		43	133.54028	133.540280	39	0.524390	0	0	0	1	0	43	39	0.52439
BPIFB6	128859	broad.mit.edu	37	20	31622051	31622051	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr20:31622051G>A	ENST00000349552.1	+	3	257	c.257G>A	c.(256-258)gGc>gAc	p.G86D		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	86						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCTGGAGTGGGCATCTTCCAA	0.572																																						ENST00000349552.1											0										c.(256-258)gGc>gAc	BPI fold containing family B, member 6						183.0	142.0	156.0					20																	31622051		2203	4300	6503	SO:0001583	missense	128859				extracellular region	lipid binding	g.chr20:31622051G>A	AF465767	AF465767	CCDS13211.1	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	"""BPI fold containing"""	16504	16504	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614110	614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	12185532, 21787333	Standard	Standard	NM_174897	NM_174897		Approved	LPLUNC6	uc010zuc.2	uc010zuc.2	Q8NFQ5	Q8NFQ5	OTTHUMG00000032238	OTTHUMG00000032238	ENST00000349552.1:c.257G>A	20.37:g.31622051G>A	ENSP00000344929:p.Gly86Asp			p.G86D	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			3	257	+			86			Missense_Mutation	SNP	ENST00000349552.1	37	c.257G>A	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092834	0.76756	.	.	ENSG00000167104	ENST00000349552	T	0.08720	3.06	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.000000	0.56097	D	0.000026	T	0.27967	0.0689	M	0.74881	2.28	0.44149	D	0.996943	D	0.89917	1.0	D	0.91635	0.999	T	0.01409	-1.1362	10	0.66056	D	0.02	.	13.1161	0.59301	0.0:0.0:1.0:0.0	.	86	Q8NFQ5	BPIB6_HUMAN	D	86	ENSP00000344929:G86D	ENSP00000344929:G86D	G	+	2	0	0	BPIFB6	31085712	31085712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.939000	0.63526	2.146000	0.66826	0.561000	0.74099	GGC		0.572	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2		-36.689990	-11	-11	144	144	NM_174897		4	7.060068	7.060068	169	0.023121	0	0	0	1	0	4	169	0.023121
PHF7	51533	broad.mit.edu	37	3	52442512	52442512	+	5'Flank	SNP	T	T	C			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr3:52442512T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000296288.5_Missense_Mutation_p.N78S|BAP1_ENST00000460680.1_Missense_Mutation_p.N78S	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.N78S(2)|p.I72fs*7(1)|p.I76fs*45(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GAACATGTTATTCACAATATC	0.488																																						ENST00000460680.1											4	Substitution - Missense(2)|Deletion - Frameshift(2)	kidney(2)|eye(1)|pleura(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(232-234)aAt>aGt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						63.0	53.0	56.0					3																	52442512		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52442512T>C	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"""Zinc fingers, PHD-type"""		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52442512T>C	Exception_encountered		BAP1_ENST00000296288.5_Missense_Mutation_p.N78S	p.N78S	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	4	704	-			78		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.233A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931031	0.73327	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	5.52	5.52	0.82312	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.090448	0.85682	D	0.000000	T	0.41926	0.1180	N	0.25031	0.7	0.80722	D	1	P	0.41978	0.767	P	0.49361	0.608	T	0.30909	-0.9962	10	0.42905	T	0.14	-2.8537	15.6492	0.77078	0.0:0.0:0.0:1.0	.	78	Q92560	BAP1_HUMAN	S	78	ENSP00000417132:N78S;ENSP00000296288:N78S	ENSP00000296288:N78S	N	-	2	0	0	BAP1	52417552	52417552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.106000	0.64143	0.533000	0.62120	AAT		0.488	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		14.002059	-3	-3	13	13	NM_016483		4	14.149697	14.149697	2	0.666667	0	0	0	1	0	4	2	0.666667
MYH6	4624	broad.mit.edu	37	14	23862938	23862955	+	In_Frame_Del	DEL	GTCCTTCTTGAGCTCTGA	GTCCTTCTTGAGCTCTGA	-	rs375226438|rs267603951		TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr14:23862938_23862955delGTCCTTCTTGAGCTCTGA	ENST00000356287.3	-	21	2877_2894	c.2848_2865delTCAGAGCTCAAGAAGGAC	c.(2848-2865)tcagagctcaagaaggacdel	p.SELKKD950del	MYH6_ENST00000405093.3_In_Frame_Del_p.SELKKD950del			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	950					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|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)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTCATCAATGTCCTTCTTGAGCTCTGAGCACTCGTCT	0.56																																						ENST00000405093.3											0			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2848-2865)tcagagctcaagaaggacdel	myosin, heavy chain 6, cardiac muscle, alpha																																			SO:0001651	inframe_deletion	4624			adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862938_23862955delGTCCTTCTTGAGCTCTGA	D00943	D00943	CCDS9600.1	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616	ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	"""Myosins / Myosin superfamily : Class II"""	7576	7576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	"""cardiomyopathy, hypertrophic 1"""	160710	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""		"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	2144212	Standard	Standard	NM_002471	NM_002471		Approved		uc001wjv.3	uc001wjv.3	P13533	P13533	OTTHUMG00000028753	OTTHUMG00000028753	ENST00000356287.3:c.2848_2865delTCAGAGCTCAAGAAGGAC	14.37:g.23862938_23862955delGTCCTTCTTGAGCTCTGA	ENSP00000348634:p.Ser950_Asp955del		MYH6_ENST00000356287.3_In_Frame_Del_p.SELKKD950del	p.SELKKD950del	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	22	2918_2935	-	all_cancers(95;2.54e-05)		950		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	In_Frame_Del	DEL	ENST00000356287.3	37	c.2848_2865delTCAGAGCTCAAGAAGGAC	CCDS9600.1																																																																																									0.560	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	.	.	-38	-38	77	77			12			81	0.13						12	81	0.13
