#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TENM1	10178	broad.mit.edu	37	X	123637463	123637463	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:123637463G>A	ENST00000371130.3	-	19	3455	c.3392C>T	c.(3391-3393)tCt>tTt	p.S1131F	TENM1_ENST00000422452.2_Missense_Mutation_p.S1131F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1131					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCTAGGTTAGAAGCATCCAT	0.378																																						uc010nqy.3																			0		p.D1131H(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(3391-3393)tCt>tTt		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.							181.0	176.0	178.0					X																	123637463		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123637463G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3392C>T	X.37:g.123637463G>A	ENSP00000360171:p.Ser1131Phe					ODZ1_uc011muj.2_Missense_Mutation_p.S1130F|ODZ1_uc004euj.3_Missense_Mutation_p.S1131F	p.S1131F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			18	3456	-			1131					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3392C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705248	0.89018	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87966	-2.32;-2.29	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.998;0.996;1.0	D;P;D	0.78314	0.991;0.903;0.986	D	0.93300	0.6676	10	0.59425	D	0.04	.	18.865	0.92289	0.0:0.0:1.0:0.0	.	1130;1131;1131	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	1131	ENSP00000360171:S1131F;ENSP00000403954:S1131F	ENSP00000360171:S1131F	S	-	2	0	ODZ1	123465144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.402000	0.81655	0.600000	0.82982	TCT		0.378	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		14	250	0	0	0	1	0	14	250				
KRTAP10-11	386678	broad.mit.edu	37	21	46067139	46067139	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr21:46067139C>T	ENST00000334670.8	+	1	809	c.764C>T	c.(763-765)tCc>tTc	p.S255F	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	255	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCGTCTCCTCCTGCTGTGCC	0.701																																						uc002zfr.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(763-765)tCc>tTc		Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.							62.0	73.0	69.0					21																	46067139		2203	4299	6502	SO:0001583	missense	386678					keratin filament		g.chr21:46067139C>T	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.764C>T	21.37:g.46067139C>T	ENSP00000334197:p.Ser255Phe					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.S255F	NM_198692	NP_941965	P60411	KR109_HUMAN			0	809	+			249					A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.764C>T	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	c	11.88	1.771791	0.31320	.	.	ENSG00000243489	ENST00000334670	T	0.00784	5.7	3.36	2.4	0.29515	.	.	.	.	.	T	0.03095	0.0091	M	0.69358	2.11	0.33004	D	0.526623	D	0.89917	1.0	D	0.76575	0.988	T	0.30297	-0.9983	9	0.66056	D	0.02	.	10.1369	0.42712	0.0:0.7953:0.2047:0.0	.	255	P60412	KR10B_HUMAN	F	255	ENSP00000334197:S255F	ENSP00000334197:S255F	S	+	2	0	KRTAP10-11	44891567	0.735000	0.28153	0.976000	0.42696	0.111000	0.19643	0.575000	0.23729	1.428000	0.47296	0.462000	0.41574	TCC		0.701	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		8	78	0	0	0	1	0	8	78				
TAS1R3	83756	broad.mit.edu	37	1	1269087	1269087	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:1269087C>T	ENST00000339381.5	+	6	1834	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	601					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CTGGTTCAGGCCTCGGGGGGG	0.692																																						uc010nyk.2																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1801-1803)gCc>gTc		Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	Aspartame(DB00168)						25.0	34.0	31.0					1																	1269087		2192	4292	6484	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269087C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1802C>T	1.37:g.1269087C>T	ENSP00000344411:p.Ala601Val						p.A601V	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	5	1802	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	601					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1802C>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673671	0.47781	.	.	ENSG00000169962	ENST00000339381	D	0.89810	-2.57	4.2	4.2	0.49525	GPCR, family 3, C-terminal (2);	0.063428	0.64402	D	0.000005	D	0.94125	0.8116	M	0.86420	2.815	0.32213	N	0.576243	D	0.89917	1.0	D	0.79108	0.992	D	0.94208	0.7456	10	0.62326	D	0.03	.	10.6728	0.45768	0.0:0.9072:0.0:0.0928	.	601	Q7RTX0	TS1R3_HUMAN	V	601	ENSP00000344411:A601V	ENSP00000344411:A601V	A	+	2	0	TAS1R3	1258950	0.994000	0.37717	0.463000	0.27130	0.069000	0.16628	2.894000	0.48640	2.201000	0.70794	0.400000	0.26472	GCC		0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			3	13	0	0	0	1	0	3	13				
ZNF436	80818	broad.mit.edu	37	1	23696056	23696056	+	5'Flank	SNP	T	T	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:23696056T>A	ENST00000314011.4	-	0	0				C1orf213_ENST00000437367.2_Intron|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000335648.3_Missense_Mutation_p.L89Q|C1orf213_ENST00000518821.1_Intron|Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000458053.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TATCGTAGGCTGATCCTAAAG	0.567																																						uc001bgw.3																			0				kidney(1)	1						c.(265-267)cTg>cAg		Homo sapiens chromosome 1 open reading frame 213 (C1orf213), transcript variant 1, non-coding RNA.							64.0	65.0	65.0					1																	23696056		2203	4300	6503	SO:0001631	upstream_gene_variant	148898							g.chr1:23696056T>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23696056T>A	Exception_encountered					ZNF436_uc001bgt.3_5'Flank|ZNF436_uc001bgu.3_5'UTR|C1orf213_uc021oif.1_Intron	p.L89Q						UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	0	593	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.266T>A	CCDS233.1	.	.	.	.	.	.	.	.	.	.	T	6.528	0.465686	0.12402	.	.	ENSG00000249087	ENST00000335648	.	.	.	3.17	-3.2	0.05156	.	.	.	.	.	T	0.24586	0.0596	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.28235	-1.0050	7	0.87932	D	0	.	1.0469	0.01571	0.278:0.1176:0.3749:0.2295	.	89	Q8NC38	CA213_HUMAN	Q	89	.	ENSP00000441287:L89Q	L	+	2	0	C1orf213	23568643	0.008000	0.16893	0.000000	0.03702	0.028000	0.11728	-0.210000	0.09345	-0.745000	0.04772	-0.757000	0.03467	CTG		0.567	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		13	35	0	0	0	1	0	13	35				
NFIA	4774	broad.mit.edu	37	1	61743213	61743213	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:61743213C>G	ENST00000403491.3	+	3	1065	c.581C>G	c.(580-582)cCc>cGc	p.P194R	NFIA_ENST00000371187.3_Missense_Mutation_p.P194R|NFIA_ENST00000371185.2_Intron|NFIA_ENST00000485903.2_Missense_Mutation_p.P194R|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000407417.3_Missense_Mutation_p.P186R|NFIA_ENST00000371191.1_Missense_Mutation_p.P217R|NFIA_ENST00000371189.4_Missense_Mutation_p.P239R|NFIA_ENST00000479364.1_3'UTR	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	194					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TCTGAAAGTCCCAGCCAGCCA	0.458																																						uc010oos.2																		NFIA/EHF(2)	0				endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						c.(715-717)cCc>cGc		Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.							88.0	84.0	85.0					1																	61743213		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61743213C>G	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.581C>G	1.37:g.61743213C>G	ENSP00000384523:p.Pro194Arg					NFIA_uc001czy.3_Missense_Mutation_p.P186R|NFIA_uc001czw.3_Missense_Mutation_p.P194R|NFIA_uc001czv.3_Missense_Mutation_p.P194R	p.P239R	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN			3	798	+			194					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.716C>G	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711883	0.68730	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371187	T;T;T;T;T;T	0.44881	0.91;0.93;0.91;0.91;0.94;0.92	6.02	6.02	0.97574	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.054084	0.64402	D	0.000001	T	0.62502	0.2433	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.76494	0.999;0.972;0.972;0.984	D;P;D;P	0.83275	0.996;0.804;0.954;0.904	T	0.58836	-0.7566	10	0.54805	T	0.06	-16.3017	20.5373	0.99239	0.0:1.0:0.0:0.0	.	239;217;194;194	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	R	217;186;239;194;194;194	ENSP00000360233:P217R;ENSP00000384680:P186R;ENSP00000360231:P239R;ENSP00000384523:P194R;ENSP00000419785:P194R;ENSP00000360229:P194R	ENSP00000360229:P194R	P	+	2	0	NFIA	61515801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.212000	0.72188	2.857000	0.98124	0.650000	0.86243	CCC		0.458	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		22	46	0	0	0	1	0	22	46				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	45	0	0	0	1	0	16	45				
SLFNL1	200172	broad.mit.edu	37	1	41486324	41486324	+	Silent	SNP	G	G	C	rs537062084		TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:41486324G>C	ENST00000359345.1	-	1	2585	c.9C>G	c.(7-9)ccC>ccG	p.P3P	SLFNL1_ENST00000397197.2_Silent_p.P3P|SLFNL1_ENST00000302946.8_Silent_p.P3P|SLFNL1_ENST00000372613.2_Silent_p.P3P|SLFNL1_ENST00000439569.2_Silent_p.P3P|SLFNL1_ENST00000372611.1_Silent_p.P3P	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	3							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				ATCTCTTCATGGGGGTCATGG	0.602																																						uc009vwg.1																			0				endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(7-9)ccC>ccG		Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.							29.0	30.0	30.0					1																	41486324		2201	4299	6500	SO:0001819	synonymous_variant	200172						ATP binding	g.chr1:41486324G>C	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.9C>G	1.37:g.41486324G>C						LOC100507178_uc021omd.1_Intron|SLFNL1_uc009vwf.1_Silent_p.P3P|SLFNL1_uc001cgn.2_Silent_p.P3P|SLFNL1_uc001cgm.2_Silent_p.P3P	p.P3P	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN			2	393	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	3					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	ENST00000359345.1	37	c.9C>G	CCDS460.1																																																																																				0.602	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		4	30	0	0	0	1	0	4	30				
GPR98	84059	broad.mit.edu	37	5	90074772	90074772	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr5:90074772G>A	ENST00000405460.2	+	64	13036	c.12940G>A	c.(12940-12942)Gat>Aat	p.D4314N	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4314	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCAGGCTTGGATTTTGTTCC	0.493																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(12940-12942)Gat>Aat		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							139.0	146.0	143.0					5																	90074772		2107	4232	6339	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr5:90074772G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12940G>A	5.37:g.90074772G>A	ENSP00000384582:p.Asp4314Asn					GPR98_uc003kjt.3_Missense_Mutation_p.D2020N|GPR98_uc003kjw.3_5'Flank	p.D4314N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	63	13036	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4314			Calx-beta 29.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12940G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018523	0.93404	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.62498	0.02	5.61	5.61	0.85477	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85667	0.1292	10	0.54805	T	0.06	.	19.6397	0.95753	0.0:0.0:1.0:0.0	.	4314	Q8WXG9	GPR98_HUMAN	N	4314	ENSP00000384582:D4314N	ENSP00000296619:D4314N	D	+	1	0	GPR98	90110528	1.000000	0.71417	0.107000	0.21349	0.089000	0.18198	8.849000	0.92178	2.632000	0.89209	0.655000	0.94253	GAT		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	114	0	0	0	1	0	8	114				
DCX	1641	broad.mit.edu	37	X	110653418	110653418	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:110653418T>C	ENST00000338081.3	-	2	623	c.452A>G	c.(451-453)tAc>tGc	p.Y151C	DCX_ENST00000356220.3_Missense_Mutation_p.Y70C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.Y70C|DCX_ENST00000356915.2_Missense_Mutation_p.Y70C|DCX_ENST00000488120.1_Missense_Mutation_p.Y70C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	151	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGACACAGCGTACACAATCCC	0.527																																						uc011msv.2																			0		p.V150M(1)|p.Y151Y(1)|p.Y151*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(451-453)tAc>tGc		Homo sapiens doublecortin (DCX), transcript variant 2, mRNA.							299.0	214.0	243.0					X																	110653418		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653418T>C	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.452A>G	X.37:g.110653418T>C	ENSP00000337697:p.Tyr151Cys					DCX_uc004epd.3_Missense_Mutation_p.Y151C|DCX_uc004epe.3_Missense_Mutation_p.Y70C|DCX_uc004epf.3_Missense_Mutation_p.Y70C|DCX_uc004epg.3_Missense_Mutation_p.Y70C	p.Y151C	NM_178152	NP_835365	O43602	DCX_HUMAN			1	624	-			151			Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.452A>G	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.048199|4.048199	0.75846|0.75846	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|D;D;D;D;D;D	.|0.92149	.|-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Doublecortin domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96466|0.96466	0.8847|0.8847	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.892	.|D;P	.|0.83275	.|0.996;0.852	D|D	0.97051|0.97051	0.9764|0.9764	5|10	.|0.66056	.|D	.|0.02	.|.	14.44|14.44	0.67309|0.67309	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|139;151	.|B4DM53;O43602	.|.;DCX_HUMAN	A|C	143|70;70;151;70;70;70	.|ENSP00000349385:Y70C;ENSP00000361061:Y70C;ENSP00000337697:Y151C;ENSP00000348553:Y70C;ENSP00000419861:Y70C;ENSP00000418811:Y70C	.|ENSP00000337697:Y151C	T|Y	-|-	1|2	0|0	DCX|DCX	110540074|110540074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.868000|7.868000	0.87116|0.87116	1.986000|1.986000	0.57962|0.57962	0.417000|0.417000	0.27973|0.27973	ACG|TAC		0.527	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		6	108	0	0	0	1	0	6	108				
MAGEA1	4100	broad.mit.edu	37	X	152482113	152482113	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:152482113C>T	ENST00000356661.5	-	3	1116	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	300	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAAGCTGCTTCACGCAGG	0.577																																						uc004fhf.2																			0				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(898-900)Gca>Aca		Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.							104.0	102.0	103.0					X																	152482113		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482113C>T		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.898G>A	X.37:g.152482113C>T	ENSP00000349085:p.Ala300Thr					MAGEA1_uc022chs.1_Missense_Mutation_p.A300T	p.A300T	NM_004988	NP_004979	P43355	MAGA1_HUMAN			2	1118	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		300			MAGE.		B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.898G>A	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	C	9.878	1.200838	0.22121	.	.	ENSG00000198681	ENST00000356661	T	0.01767	4.65	1.28	0.353	0.16058	.	0.526287	0.20315	N	0.094757	T	0.01222	0.0040	L	0.47716	1.5	0.09310	N	1	P	0.42483	0.781	B	0.17722	0.019	T	0.51973	-0.8637	10	0.87932	D	0	.	3.1752	0.06566	0.0:0.6834:0.0:0.3166	.	300	P43355	MAGA1_HUMAN	T	300	ENSP00000349085:A300T	ENSP00000349085:A300T	A	-	1	0	MAGEA1	152135307	0.128000	0.22383	0.001000	0.08648	0.082000	0.17680	0.902000	0.28459	0.049000	0.15920	0.190000	0.17370	GCA		0.577	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		47	99	0	0	0	1	0	47	99				
PLEC	5339	broad.mit.edu	37	8	145009393	145009393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:145009393C>A	ENST00000322810.4	-	7	1271	c.1102G>T	c.(1102-1104)Gga>Tga	p.G368*	PLEC_ENST00000357649.2_Nonsense_Mutation_p.G235*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.G209*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.G258*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.G199*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.G217*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.G258*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	368	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGTCACTCCCAGGTCCCGC	0.657																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1102-1104)Gga>Tga		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							69.0	83.0	78.0					8																	145009393		2159	4258	6417	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145009393C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1102G>T	8.37:g.145009393C>A	ENSP00000323856:p.Gly368*					PLEC_uc003zab.1_Nonsense_Mutation_p.G231*|PLEC_uc003zac.1_Nonsense_Mutation_p.G235*|PLEC_uc003zad.2_Nonsense_Mutation_p.G231*|PLEC_uc003zae.1_Nonsense_Mutation_p.G199*|PLEC_uc003zag.1_Nonsense_Mutation_p.G209*|PLEC_uc003zah.2_Nonsense_Mutation_p.G217*|PLEC_uc003zaj.2_Nonsense_Mutation_p.G258*	p.G368*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			6	1272	-			368			Actin-binding.|CH 2.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.1102G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	36	5.970952	0.97156	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	.	.	.	4.4	3.5	0.40072	.	0.182943	0.33309	U	0.005044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.4977	0.55937	0.1685:0.8315:0.0:0.0	.	.	.	.	X	231;235;231;199;368;209;217;258;258;275	.	ENSP00000323856:G368X	G	-	1	0	PLEC	145081381	1.000000	0.71417	0.996000	0.52242	0.635000	0.38103	7.394000	0.79862	1.037000	0.40024	0.651000	0.88453	GGA		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	24	0	0	0	1	0	4	24				
SLC25A43	203427	broad.mit.edu	37	X	118585975	118585975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:118585975C>T	ENST00000217909.7	+	4	1038	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Missense_Mutation_p.S174L	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	232					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTGTCAGGCTCAGAGCCCCTA	0.532																																						uc004erd.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						c.(694-696)Cag>Tag		Homo sapiens solute carrier family 25, member 43 (SLC25A43), nuclear gene encoding mitochondrial protein, mRNA.							60.0	61.0	61.0					X																	118585975		2203	4300	6503	SO:0001587	stop_gained	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118585975C>T	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.694C>T	X.37:g.118585975C>T	ENSP00000217909:p.Gln232*					SLC25A43_uc004erc.2_Non-coding_Transcript|SLC25A43_uc011mtt.2_Missense_Mutation_p.S174L	p.Q232*	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN			3	803	+			232					O75854|Q8N9L5	Nonsense_Mutation	SNP	ENST00000217909.7	37	c.694C>T	CCDS14577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.272790|5.272790	0.95429|0.95429	.|.	.|.	ENSG00000077713|ENSG00000077713	ENST00000217909;ENST00000326714|ENST00000336249	.|T	.|0.77620	.|-1.11	5.37|5.37	4.48|4.48	0.54585|0.54585	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69106	.|0.3074	.|.	.|.	.|.	0.26018|0.26018	N|N	0.981903|0.981903	.|B	.|0.11235	.|0.004	.|B	.|0.04013	.|0.001	.|T	.|0.57213	.|-0.7850	.|8	0.27082|0.35671	T|T	0.32|0.21	.|.	14.0422|14.0422	0.64684|0.64684	0.0:0.852:0.148:0.0|0.0:0.852:0.148:0.0	.|.	.|174	.|B4E1P8	.|.	X|L	232;180|174	.|ENSP00000338628:S174L	ENSP00000217909:Q232X|ENSP00000338628:S174L	Q|S	+|+	1|2	0|0	SLC25A43|SLC25A43	118470003|118470003	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.246000|0.246000	0.25737|0.25737	5.335000|5.335000	0.65929|0.65929	0.994000|0.994000	0.38892|0.38892	0.600000|0.600000	0.82982|0.82982	CAG|TCA		0.532	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		8	69	0	0	0	1	0	8	69				
TMEM204	79652	broad.mit.edu	37	16	1591953	1591953	+	Silent	SNP	G	G	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr16:1591953G>A	ENST00000566264.1	+	2	1015	c.312G>A	c.(310-312)ctG>ctA	p.L104L	TMEM204_ENST00000253934.5_Silent_p.L104L|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	104					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CCTGCAACCTGGTGGCCACGG	0.701																																						uc002cmc.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(310-312)ctG>ctA		Homo sapiens transmembrane protein 204 (TMEM204), mRNA.							33.0	40.0	37.0					16																	1591953		2163	4244	6407	SO:0001819	synonymous_variant	79652				response to stress	adherens junction|integral to membrane		g.chr16:1591953G>A		CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"""chromosome 16 open reading frame 30"""	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.312G>A	16.37:g.1591953G>A						IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Silent_p.L104L|TMEM204_uc010brr.1_Silent_p.L104L	p.L104L	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN			2	710	+		Hepatocellular(780;0.219)	104					D3DU76|Q3KRC1|Q9H7G5	Silent	SNP	ENST00000566264.1	37	c.312G>A	CCDS42098.1																																																																																				0.701	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432610.1	NM_024600		3	35	0	0	0	1	0	3	35				
CGNL1	84952	broad.mit.edu	37	15	57730273	57730273	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr15:57730273A>G	ENST00000281282.5	+	2	154	c.76A>G	c.(76-78)Acc>Gcc	p.T26A		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	26	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAGTGATGATACCCAAAAATC	0.483																																						uc010bfw.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(76-78)Acc>Gcc		Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.							152.0	161.0	158.0					15																	57730273		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730273A>G	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.76A>G	15.37:g.57730273A>G	ENSP00000281282:p.Thr26Ala					CGNL1_uc002aeg.3_Missense_Mutation_p.T26A	p.T26A	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	269	+			26			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.76A>G	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	3.678	-0.066045	0.07273	.	.	ENSG00000128849	ENST00000281282	T	0.07800	3.16	4.71	1.16	0.20824	.	0.534633	0.15746	N	0.246662	T	0.07728	0.0194	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.49607	T	0.09	-5.6964	5.2109	0.15316	0.5494:0.1463:0.3043:0.0	.	26	Q0VF96	CGNL1_HUMAN	A	26	ENSP00000281282:T26A	ENSP00000281282:T26A	T	+	1	0	CGNL1	55517565	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	0.162000	0.16501	0.035000	0.15519	0.459000	0.35465	ACC		0.483	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		12	169	0	0	0	1	0	12	169				
NLRP4	147945	broad.mit.edu	37	19	56363698	56363698	+	Silent	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr19:56363698C>T	ENST00000301295.6	+	2	674	c.252C>T	c.(250-252)ctC>ctT	p.L84L	NLRP4_ENST00000346986.5_Silent_p.L84L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	84	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAGGATCTCTGCATGAAGG	0.443																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(250-252)ctC>ctT		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							73.0	76.0	75.0					19																	56363698		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56363698C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.252C>T	19.37:g.56363698C>T							p.L84L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	1	674	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	84			DAPIN.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.252C>T	CCDS12936.1																																																																																				0.443	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		4	60	0	0	0	1	0	4	60				
GALT	2592	broad.mit.edu	37	9	34649475	34649475	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr9:34649475C>T	ENST00000378842.3	+	10	1015	c.973C>T	c.(973-975)Ccg>Tcg	p.P325S	GALT_ENST00000450095.2_Missense_Mutation_p.P216S|GALT_ENST00000488412.2_3'UTR|IL11RA_ENST00000555003.1_5'Flank|IL11RA_ENST00000441545.2_5'Flank|GALT_ENST00000556278.1_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	325			P -> L (in GALCT). {ECO:0000269|PubMed:9222760}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTACTACCCTCCGCTCCTGCG	0.577									Galactosemia																													uc003zve.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(973-975)Ccg>Tcg		Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.							114.0	108.0	110.0					9																	34649475		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34649475C>T	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.973C>T	9.37:g.34649475C>T	ENSP00000368119:p.Pro325Ser					GALT_uc003zvf.3_Missense_Mutation_p.P216S|IL11RA_uc003zvi.3_5'Flank|IL11RA_uc011loq.2_5'Flank	p.P325S	NM_000155	NP_000146	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	9	1040	+	all_epithelial(49;0.102)		325		P -> L (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.973C>T	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788187	0.90367	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99239	-5.61;-5.61	5.3	4.39	0.52855	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.000000	0.85682	U	0.000000	D	0.99527	0.9831	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97999	1.0359	10	0.87932	D	0	-8.5874	13.118	0.59311	0.0:0.9199:0.0:0.0801	.	216;325	E7ET32;P07902	.;GALT_HUMAN	S	216;325	ENSP00000401956:P216S;ENSP00000368119:P325S	ENSP00000368119:P325S	P	+	1	0	GALT	34639475	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.646000	0.67916	2.487000	0.83934	0.555000	0.69702	CCG		0.577	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		5	108	0	0	0	1	0	5	108				
TTN	7273	broad.mit.edu	37	2	179474597	179474597	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr2:179474597C>G	ENST00000591111.1	-	222	46854	c.46630G>C	c.(46630-46632)Gag>Cag	p.E15544Q	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17185Q|TTN_ENST00000342992.6_Missense_Mutation_p.E14617Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8312Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8245Q|TTN_ENST00000460472.2_Missense_Mutation_p.E8120Q			Q8WZ42	TITIN_HUMAN	titin	15544	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAATCTTCTCTATGATGTAG	0.438																																						uc021vsy.1																			0				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						c.(43849-43851)Gag>Cag		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							375.0	356.0	362.0					2																	179474597		1919	4138	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474597C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46630G>C	2.37:g.179474597C>G	ENSP00000465570:p.Glu15544Gln					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8312Q|TTN_uc021vta.1_Missense_Mutation_p.E8245Q|TTN_uc021vtb.1_Missense_Mutation_p.E8120Q	p.E14617Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		220	44074	-			15544			Ig-like 96.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.43849G>C		.	.	.	.	.	.	.	.	.	.	C	15.73	2.919400	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73853	0.3640	M	0.69523	2.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.75525	-0.3287	9	0.87932	D	0	.	19.8424	0.96695	0.0:1.0:0.0:0.0	.	8120;8245;8312;15544	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	14617;8120;8312;8245;8120	ENSP00000343764:E14617Q;ENSP00000434586:E8120Q;ENSP00000340554:E8312Q;ENSP00000352154:E8245Q	ENSP00000340554:E8312Q	E	-	1	0	TTN	179182842	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.818000	0.86416	2.673000	0.90976	0.655000	0.94253	GAG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	296	0	0	0	1	0	9	296				
LIG4	3981	broad.mit.edu	37	13	108861705	108861705	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr13:108861705T>C	ENST00000356922.4	-	2	2184	c.1912A>G	c.(1912-1914)Att>Gtt	p.I638V	LIG4_ENST00000405925.1_Missense_Mutation_p.I638V|LIG4_ENST00000442234.1_Missense_Mutation_p.I638V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	638					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATAATTCCAATAACTTTCTTC	0.358								Non-homologous end-joining																														uc001vqn.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1912-1914)Att>Gtt	Non-homologous end-joining	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.							72.0	72.0	72.0					13																	108861705		2203	4299	6502	SO:0001583	missense	3981				DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861705T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1912A>G	13.37:g.108861705T>C	ENSP00000349393:p.Ile638Val					LIG4_uc001vqo.3_Missense_Mutation_p.I638V|LIG4_uc010agf.3_Missense_Mutation_p.I638V|LIG4_uc001vqp.3_Missense_Mutation_p.I638V|LIG4_uc010agg.1_Missense_Mutation_p.I571V|LIG4_uc021rmk.1_Missense_Mutation_p.I638V	p.I638V	NM_002312	NP_996820	P49917	DNLI4_HUMAN			1	2185	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		638					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1912A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	0.369	-0.934801	0.02340	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.08370	3.1;3.1;3.1	5.7	-2.01	0.07410	BRCT (1);	0.219101	0.46758	N	0.000274	T	0.05135	0.0137	L	0.37561	1.115	0.30585	N	0.762138	B	0.02656	0.0	B	0.01281	0.0	T	0.31420	-0.9944	10	0.21540	T	0.41	.	6.4149	0.21712	0.0:0.3181:0.1212:0.5607	.	638	P49917	DNLI4_HUMAN	V	638	ENSP00000385955:I638V;ENSP00000402030:I638V;ENSP00000349393:I638V	ENSP00000349393:I638V	I	-	1	0	LIG4	107659706	0.182000	0.23173	0.060000	0.19600	0.645000	0.38454	0.513000	0.22770	0.034000	0.15491	0.445000	0.29226	ATT		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		26	51	0	0	0	1	0	26	51				
GPR179	440435	broad.mit.edu	37	17	36487270	36487270	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr17:36487270C>T	ENST00000342292.4	-	11	2202	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	728					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCCAGGGCCTCGGGGAATTCC	0.687																																						uc002hpz.3																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2182-2184)Gag>Aag		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							24.0	28.0	27.0					17																	36487270		1937	4150	6087	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36487270C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2182G>A	17.37:g.36487270C>T	ENSP00000345060:p.Glu728Lys						p.E728K	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			10	2203	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	728						Missense_Mutation	SNP	ENST00000342292.4	37	c.2182G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072841	0.93950	.	.	ENSG00000188888	ENST00000342292	T	0.63096	-0.02	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000004	T	0.78298	0.4261	M	0.71036	2.16	0.49213	D	0.999764	D	0.89917	1.0	D	0.70016	0.967	T	0.79593	-0.1739	10	0.62326	D	0.03	-27.6064	17.7583	0.88456	0.0:1.0:0.0:0.0	.	728	Q6PRD1	GP179_HUMAN	K	728	ENSP00000345060:E728K	ENSP00000345060:E728K	E	-	1	0	GPR179	33740796	1.000000	0.71417	0.970000	0.41538	0.719000	0.41307	6.869000	0.75521	2.722000	0.93159	0.655000	0.94253	GAG		0.687	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			3	25	0	0	0	1	0	3	25				
HTRA4	203100	broad.mit.edu	37	8	38831929	38831929	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:38831929delC	ENST00000302495.4	+	1	247	c.147delC	c.(145-147)tgcfs	p.C49fs	CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	49	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCACGCGCTGCCCCGCGCTGC	0.746																																						uc003xmj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(145-147)tgcfs		Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.							5.0	5.0	5.0					8																	38831929		2076	4003	6079	SO:0001589	frameshift_variant	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38831929delC	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.147delC	8.37:g.38831929delC	ENSP00000305919:p.Cys49fs						p.C49fs	NM_153692	NP_710159	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		0	262	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	49			IGFBP N-terminal.		Q542Z4|Q6PF13	Frame_Shift_Del	DEL	ENST00000302495.4	37	c.147delC	CCDS6110.1																																																																																				0.746	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		2	4						2	4	---	---	---	---
