#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
GRM4	2914	broad.mit.edu	37	6	34059820	34059820	+	Silent	SNP	G	G	A	rs368672368		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:34059820G>A	ENST00000538487.2	-	3	1019	c.576C>T	c.(574-576)taC>taT	p.Y192Y	GRM4_ENST00000544773.2_Silent_p.Y23Y|GRM4_ENST00000455714.2_Silent_p.Y52Y|GRM4_ENST00000535756.1_Silent_p.Y59Y|GRM4_ENST00000374177.3_Silent_p.Y123Y|GRM4_ENST00000609222.1_Silent_p.Y59Y|GRM4_ENST00000374181.4_Silent_p.Y192Y	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	192					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGAAGAAGTCGTAGCGGCTGT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18627	0.0		0.0	False		,,,				2504	0.001					ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(574-576)taC>taT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)	G		0,4406		0,0,2203	113.0	86.0	95.0		576	0.8	1.0	6		95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRM4	NM_000841.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		192/913	34059820	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34059820G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.576C>T	6.37:g.34059820G>A						GRM4_ENST00000374177.3_Silent_p.Y123Y|GRM4_ENST00000455714.2_Silent_p.Y52Y|GRM4_ENST00000544773.1_Silent_p.Y23Y|GRM4_ENST00000538487.1_Silent_p.Y192Y|GRM4_ENST00000535756.1_Silent_p.Y59Y	p.Y192Y	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			2	745	-			192					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.576C>T	CCDS4787.1																																																																																				0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			21	45	0	0	0	1	0	21	45				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	59	0	0	0	1	0	5	59				
MAST2	23139	broad.mit.edu	37	1	46295175	46295175	+	Silent	SNP	G	G	A	rs558908632		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:46295175G>A	ENST00000361297.2	+	3	673	c.390G>A	c.(388-390)tcG>tcA	p.S130S	MAST2_ENST00000372009.2_Silent_p.S130S	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTGGCAGTCGTCAGGAGAAG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.0					ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(388-390)tcG>tcA		microtubule associated serine/threonine kinase 2							97.0	92.0	94.0					1																	46295175		1962	4159	6121	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46295175G>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.390G>A	1.37:g.46295175G>A						MAST2_ENST00000372009.2_Silent_p.S130S	p.S130S	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			3	673	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		130						Silent	SNP	ENST00000361297.2	37	c.390G>A	CCDS41326.1																																																																																				0.468	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		18	42	0	0	0	1	0	18	42				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240560	39240560	+	Silent	SNP	T	T	C	rs200090467		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:39240560T>C	ENST00000391417.4	+	1	102	c.102T>C	c.(100-102)tgT>tgC	p.C34C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	34	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C34C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						AGACCACCTGTTGCAGGACCA	0.647																																						ENST00000391417.4																			2	Substitution - coding silent(2)	p.C34C(2)	endometrium(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(100-102)tgT>tgC		keratin associated protein 4-7							15.0	23.0	20.0					17																	39240560		691	1591	2282	SO:0001819	synonymous_variant	100132476							g.chr17:39240560T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.102T>C	17.37:g.39240560T>C							p.C34C	NM_033061.3	NP_149050.3					1	102	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.102T>C	CCDS45673.1																																																																																				0.647	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	48	0	0	0	1	0	3	48				
TRPC4	7223	broad.mit.edu	37	13	38225434	38225434	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr13:38225434T>A	ENST00000379705.3	-	8	2904	c.2047A>T	c.(2047-2049)Aga>Tga	p.R683*	TRPC4_ENST00000338947.5_Nonsense_Mutation_p.R510*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R683*|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.R510*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R683*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	683	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCTTTCTTCTCATCTTTTTC	0.383																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2047-2049)Aga>Tga		transient receptor potential cation channel, subfamily C, member 4							142.0	138.0	140.0					13																	38225434		2203	4300	6503	SO:0001587	stop_gained	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38225434T>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2047A>T	13.37:g.38225434T>A	ENSP00000369027:p.Arg683*					TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.R510*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R683*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.R510*|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R683*	p.R683*			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	8	2904	-			683			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	ENST00000379705.3	37	c.2047A>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	39	7.880399	0.98539	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	.	.	.	5.6	4.4	0.53042	.	0.293219	0.43919	D	0.000502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.5456	12.7388	0.57239	0.0:0.0:0.1375:0.8625	.	.	.	.	X	683;683;510;510;683;683;683	.	ENSP00000342580:R510X	R	-	1	2	TRPC4	37123434	0.907000	0.30839	1.000000	0.80357	0.985000	0.73830	0.640000	0.24705	0.942000	0.37525	0.459000	0.35465	AGA		0.383	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		28	37	0	0	0	1	0	28	37				
CLEC12A	160364	broad.mit.edu	37	12	10131592	10131592	+	Missense_Mutation	SNP	G	G	A	rs185029317		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:10131592G>A	ENST00000304361.4	+	2	301	c.119G>A	c.(118-120)cGt>cAt	p.R40H	CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATGTATGGCGTCCAGCAGCC	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16737	0.0		0.0	False		,,,				2504	0.0				Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(118-120)cGt>cAt		C-type lectin domain family 12, member A							212.0	197.0	202.0					12																	10131592		2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10131592G>A	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.119G>A	12.37:g.10131592G>A	ENSP00000302804:p.Arg40His					CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40H|CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50H	p.R40H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			2	301	+			40					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.119G>A	CCDS8608.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.54	1.379060	0.24944	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319	T;T;T;T	0.09073	4.47;3.02;4.48;3.93	4.58	-1.34	0.09143	.	.	.	.	.	T	0.07548	0.0190	L	0.54965	1.715	0.09310	N	1	B;B	0.29232	0.153;0.238	B;B	0.26202	0.018;0.067	T	0.31475	-0.9942	9	0.51188	T	0.08	.	3.9801	0.09492	0.4506:0.0:0.3867:0.1627	.	40;50	Q5QGZ9;Q5QGZ9-1	CL12A_HUMAN;.	H	50;40;40;40	ENSP00000347916:R50H;ENSP00000379764:R40H;ENSP00000302804:R40H;ENSP00000405244:R40H	ENSP00000302804:R40H	R	+	2	0	CLEC12A	10022859	0.005000	0.15991	0.001000	0.08648	0.004000	0.04260	0.136000	0.15974	-0.391000	0.07763	-0.142000	0.14014	CGT		0.438	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		32	61	0	0	0	1	0	32	61				
TAS2R9	50835	broad.mit.edu	37	12	10962396	10962396	+	Silent	SNP	A	A	G			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:10962396A>G	ENST00000240691.2	-	1	371	c.279T>C	c.(277-279)aaT>aaC	p.N93N	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	93					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACTTGAATTATTGGCAAATG	0.383																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(277-279)aaT>aaC		taste receptor, type 2, member 9							100.0	98.0	99.0					12																	10962396		2203	4300	6503	SO:0001819	synonymous_variant	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962396A>G	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.279T>C	12.37:g.10962396A>G							p.N93N	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	371	-			93					Q502V7|Q50KT0|Q50KT1|Q645W9	Silent	SNP	ENST00000240691.2	37	c.279T>C	CCDS8633.1																																																																																				0.383	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			16	35	0	0	0	1	0	16	35				
TTN	7273	broad.mit.edu	37	2	179394741	179394741	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:179394741T>A	ENST00000591111.1	-	309	101778	c.101554A>T	c.(101554-101556)Aca>Tca	p.T33852S	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T35493S|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26620S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26553S|TTN_ENST00000460472.2_Missense_Mutation_p.T26428S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32925S			Q8WZ42	TITIN_HUMAN	titin	33852	Ig-like 149.				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)			TTTTTTACTGTACAAGTATAA	0.348																																						ENST00000589042.1																			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.(106477-106479)Aca>Tca		titin							104.0	100.0	101.0					2																	179394741		1807	4071	5878	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179394741T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101554A>T	2.37:g.179394741T>A	ENSP00000465570:p.Thr33852Ser					TTN_ENST00000342992.6_Missense_Mutation_p.T32925S|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26620S|TTN_ENST00000460472.2_Missense_Mutation_p.T26428S|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26553S|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T33852S|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA	p.T35493S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		359	106701	-			33852					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.106477A>T		.	.	.	.	.	.	.	.	.	.	T	12.62	1.992982	0.35131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72684	0.3491	L	0.37466	1.105	0.32091	N	0.591836	D;D;D;D	0.65815	0.991;0.991;0.991;0.995	P;P;P;D	0.64506	0.82;0.82;0.82;0.926	T	0.77986	-0.2381	9	0.87932	D	0	.	12.4895	0.55891	0.0:0.0:0.0:1.0	.	26428;26553;26620;33852	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	32925;26428;26620;26553;26425	ENSP00000343764:T32925S;ENSP00000434586:T26428S;ENSP00000340554:T26620S;ENSP00000352154:T26553S	ENSP00000340554:T26620S	T	-	1	0	TTN	179102987	1.000000	0.71417	0.755000	0.31263	0.163000	0.22366	3.899000	0.56288	2.215000	0.71742	0.459000	0.35465	ACA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	54	0	0	0	1	0	16	54				
FLNC	2318	broad.mit.edu	37	7	128470957	128470957	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr7:128470957G>A	ENST00000325888.8	+	1	527	c.266G>A	c.(265-267)cGc>cAc	p.R89H	FLNC_ENST00000346177.6_Missense_Mutation_p.R89H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	89	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCCATCCGCGCCCCAACTTC	0.652																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(265-267)cGc>cAc		filamin C, gamma							58.0	61.0	60.0					7																	128470957		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470957G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.266G>A	7.37:g.128470957G>A	ENSP00000327145:p.Arg89His					FLNC_ENST00000346177.6_Missense_Mutation_p.R89H	p.R89H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			1	527	+			89			Actin-binding.|CH 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.266G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325967	0.95708	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.60548	0.18;0.18	4.49	3.59	0.41128	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.85777	2.775	0.47123	D	0.99932	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	T	0.81068	-0.1100	10	0.87932	D	0	.	13.568	0.61830	0.0:0.1573:0.8427:0.0	.	89;89	Q14315-2;Q14315	.;FLNC_HUMAN	H	89	ENSP00000327145:R89H;ENSP00000344002:R89H	ENSP00000327145:R89H	R	+	2	0	FLNC	128258193	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.961000	0.87903	0.978000	0.38470	0.561000	0.74099	CGC		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			20	66	0	0	0	1	0	20	66				
IGF1R	3480	broad.mit.edu	37	15	99192881	99192881	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:99192881C>T	ENST00000268035.6	+	1	682	c.71C>T	c.(70-72)tCg>tTg	p.S24L	IGF1R_ENST00000558762.1_Missense_Mutation_p.S24L|RP11-35O15.1_ENST00000560221.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	24					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GCCGCGCTCTCGCTCTGGCCG	0.622																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(70-72)tCg>tTg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						33.0	38.0	36.0					15																	99192881		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99192881C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.71C>T	15.37:g.99192881C>T	ENSP00000268035:p.Ser24Leu					IGF1R_ENST00000558762.1_Missense_Mutation_p.S24L	p.S24L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		1	682	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		24					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.71C>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	6.241	0.412607	0.11812	.	.	ENSG00000140443	ENST00000268035	T	0.75367	-0.93	3.76	1.73	0.24493	.	0.143555	0.30365	U	0.009785	T	0.45895	0.1365	N	0.11201	0.11	0.24466	N	0.994411	B;B	0.20780	0.048;0.0	B;B	0.09377	0.004;0.001	T	0.21042	-1.0257	10	0.10636	T	0.68	.	5.3318	0.15936	0.0:0.489:0.3685:0.1425	.	24;24	C9J5X1;P08069	.;IGF1R_HUMAN	L	24	ENSP00000268035:S24L	ENSP00000268035:S24L	S	+	2	0	IGF1R	97010404	0.999000	0.42202	0.998000	0.56505	0.797000	0.45037	0.413000	0.21148	0.545000	0.28902	-0.448000	0.05591	TCG		0.622	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		13	30	0	0	0	1	0	13	30				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	19	0	0	0	1	0	4	19				
CNTN1	1272	broad.mit.edu	37	12	41422975	41422975	+	Silent	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:41422975G>A	ENST00000551295.2	+	23	3051	c.2934G>A	c.(2932-2934)gcG>gcA	p.A978A	CNTN1_ENST00000348761.2_Silent_p.A967A|CNTN1_ENST00000347616.1_Silent_p.A978A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	978	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTTCGCGCGCACAGTGATG	0.458																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2932-2934)gcG>gcA		contactin 1							231.0	215.0	221.0					12																	41422975		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41422975G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2934G>A	12.37:g.41422975G>A						CNTN1_ENST00000347616.1_Silent_p.A978A|CNTN1_ENST00000348761.2_Silent_p.A967A	p.A978A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			23	3051	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	978			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2934G>A	CCDS8737.1																																																																																				0.458	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		4	163	0	0	0	1	0	4	163				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	54	1	0	0.00909568	1	0.00944551	4	54				
KIAA2022	340533	broad.mit.edu	37	X	73964003	73964003	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chrX:73964003C>A	ENST00000055682.6	-	3	1000	c.389G>T	c.(388-390)gGc>gTc	p.G130V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	130					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGCTGACATGCCTGCAGGCTC	0.507																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(388-390)gGc>gTc		KIAA2022							92.0	84.0	87.0					X																	73964003		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73964003C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.389G>T	X.37:g.73964003C>A	ENSP00000055682:p.Gly130Val					KIAA2022_ENST00000055682.5_Missense_Mutation_p.G130V	p.G130V			Q5QGS0	K2022_HUMAN			3	1040	-			130					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.389G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283054	0.40394	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.34072	1.38;1.38	5.35	5.35	0.76521	.	0.480189	0.23836	N	0.044086	T	0.35740	0.0942	L	0.36672	1.1	0.53688	D	0.999975	P	0.49090	0.919	P	0.46110	0.504	T	0.18587	-1.0332	10	0.87932	D	0	-5.6031	13.7726	0.63036	0.0:0.8508:0.1492:0.0	.	130	Q5QGS0	K2022_HUMAN	V	130	ENSP00000362567:G130V;ENSP00000055682:G130V	ENSP00000055682:G130V	G	-	2	0	KIAA2022	73880728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.641000	0.54360	2.471000	0.83476	0.600000	0.82982	GGC		0.507	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		40	20	1	0	8.16904e-11	1	8.64957e-11	40	20				
ECHDC2	55268	broad.mit.edu	37	1	53377301	53377301	+	Missense_Mutation	SNP	G	G	A	rs368580572		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:53377301G>A	ENST00000371522.4	-	3	307	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000358358.5_Missense_Mutation_p.R72W|ECHDC2_ENST00000541281.1_Missense_Mutation_p.R26W|ECHDC2_ENST00000536120.1_Missense_Mutation_p.R26W	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	72					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CGGTCCTCCCGCAGCTGGGCC	0.612																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(76-78)Cgg>Tgg		enoyl CoA hydratase domain containing 2		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	76.0	76.0		214,214,214	3.4	1.0	1		76	0,8600		0,0,4300	no	missense,missense,missense	ECHDC2	NM_001198961.1,NM_001198962.1,NM_018281.3	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	72/293,72/245,72/262	53377301	1,13005	2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53377301G>A	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.214C>T	1.37:g.53377301G>A	ENSP00000360577:p.Arg72Trp					ECHDC2_ENST00000358358.5_Missense_Mutation_p.R72W|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_Missense_Mutation_p.R26W|ECHDC2_ENST00000371522.4_Missense_Mutation_p.R72W	p.R26W			Q86YB7	ECHD2_HUMAN			6	893	-			72					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.76C>T	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489629	0.64074	2.27E-4	0.0	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	T;T;T;T;T	0.77620	-0.4;-1.11;-0.4;-1.11;-0.4	4.35	3.42	0.39159	Crotonase, core (1);	0.577844	0.19138	N	0.121755	D	0.83179	0.5198	M	0.78637	2.42	0.33232	D	0.556001	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.57846	0.828;0.823;0.62	D	0.86433	0.1762	10	0.87932	D	0	.	7.3808	0.26854	0.0902:0.0:0.7394:0.1704	.	26;72;72	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	W	72;72;26;72;26	ENSP00000360577:R72W;ENSP00000351125:R72W;ENSP00000439264:R26W;ENSP00000441962:R72W;ENSP00000445358:R26W	ENSP00000351125:R72W	R	-	1	2	ECHDC2	53149889	0.995000	0.38212	0.985000	0.45067	0.713000	0.41058	6.783000	0.75078	1.162000	0.42619	0.556000	0.70494	CGG		0.612	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		3	42	0	0	0	1	0	3	42				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	88	0	0	0	1	0	7	88				
ANAPC5	51433	broad.mit.edu	37	12	121766164	121766164	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:121766164A>G	ENST00000261819.3	-	10	1380	c.1259T>C	c.(1258-1260)aTc>aCc	p.I420T	ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	420					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCGATGCTGATATCGATGAG	0.547																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1258-1260)aTc>aCc		anaphase promoting complex subunit 5							136.0	106.0	116.0					12																	121766164		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121766164A>G	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1259T>C	12.37:g.121766164A>G	ENSP00000261819:p.Ile420Thr					ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T	p.I420T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			10	1380	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		420					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1259T>C	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	A	8.805	0.933876	0.18206	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.45581	1.43	0.80722	D	1	B;B;B;B	0.30326	0.234;0.043;0.129;0.276	B;B;B;B	0.33196	0.046;0.046;0.113;0.159	T	0.51980	-0.8636	9	0.10377	T	0.69	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	86;22;308;420	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	T	308;407;420;86;22;308	.	ENSP00000261819:I420T	I	-	2	0	ANAPC5	120250547	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	8.468000	0.90393	2.279000	0.76181	0.533000	0.62120	ATC		0.547	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			10	24	0	0	0	1	0	10	24				
PTPRC	5788	broad.mit.edu	37	1	198711064	198711064	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:198711064G>C	ENST00000367376.2	+	24	2635	c.2464G>C	c.(2464-2466)Gtg>Ctg	p.V822L	PTPRC_ENST00000348564.6_Missense_Mutation_p.V663L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V661L|PTPRC_ENST00000352140.3_Missense_Mutation_p.V774L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V824L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	822	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGACCACGGGGTGCCTGAGGA	0.453																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2464-2466)Gtg>Ctg		protein tyrosine phosphatase, receptor type, C							63.0	60.0	61.0					1																	198711064		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198711064G>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2464G>C	1.37:g.198711064G>C	ENSP00000356346:p.Val822Leu					PTPRC_ENST00000352140.3_Missense_Mutation_p.V774L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V824L|PTPRC_ENST00000348564.6_Missense_Mutation_p.V663L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V661L	p.V822L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			24	2635	+			822			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2464G>C		.	.	.	.	.	.	.	.	.	.	G	33	5.252985	0.95336	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.84660	-1.88	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.44097	D	0.000495	D	0.93465	0.7915	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93270	0.6651	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	663;774;822	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	L	824;774;822;661	ENSP00000193532:V774L	ENSP00000306782:V661L	V	+	1	0	PTPRC	196977687	1.000000	0.71417	0.989000	0.46669	0.905000	0.53344	9.761000	0.98940	2.884000	0.98904	0.655000	0.94253	GTG		0.453	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				14	35	0	0	0	1	0	14	35				
OR4D9	390199	broad.mit.edu	37	11	59282742	59282742	+	Silent	SNP	G	G	A	rs373390910		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr11:59282742G>A	ENST00000329328.3	+	1	357	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTGTGATGGCGTTTGACCGCT	0.522																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(355-357)gcG>gcA		olfactory receptor, family 4, subfamily D, member 9		G		0,4402		0,0,2201	84.0	81.0	82.0		357	-8.3	0.9	11		82	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	OR4D9	NM_001004711.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		119/315	59282742	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282742G>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.357G>A	11.37:g.59282742G>A							p.A119A	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	357	+			119					Q6IFF3	Silent	SNP	ENST00000329328.3	37	c.357G>A	CCDS31564.1																																																																																				0.522	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		7	85	0	0	0	1	0	7	85				
TGFBR3	7049	broad.mit.edu	37	1	92181894	92181894	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:92181894C>T	ENST00000525962.1	-	11	1826	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	TGFBR3_ENST00000370399.2_Missense_Mutation_p.G588R|TGFBR3_ENST00000212355.4_Missense_Mutation_p.G589R			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	589	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTGATGTTTCCGTGGGGCTGT	0.483																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1765-1767)Gga>Aga		transforming growth factor, beta receptor III							157.0	156.0	156.0					1																	92181894		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92181894C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1765G>A	1.37:g.92181894C>T	ENSP00000436127:p.Gly589Arg					TGFBR3_ENST00000525962.1_Missense_Mutation_p.G589R|TGFBR3_ENST00000370399.2_Missense_Mutation_p.G588R	p.G589R	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	12	2230	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	589			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1765G>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	5.250	0.231538	0.09969	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.55	1.87	0.25490	Zona pellucida sperm-binding protein (3);	0.546111	0.20561	N	0.089905	T	0.49423	0.1556	N	0.04724	-0.175	0.09310	N	1	B;B;B	0.18166	0.026;0.021;0.026	B;B;B	0.12156	0.007;0.004;0.007	T	0.49051	-0.8979	10	0.46703	T	0.11	-1.1617	9.1291	0.36835	0.0:0.521:0.0:0.479	.	589;588;589	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	R	589;588;589;588	ENSP00000212355:G589R;ENSP00000359426:G588R;ENSP00000436127:G589R;ENSP00000432638:G588R	ENSP00000212355:G589R	G	-	1	0	TGFBR3	91954482	0.026000	0.19158	0.072000	0.20136	0.624000	0.37722	0.740000	0.26188	0.551000	0.29008	0.655000	0.94253	GGA		0.483	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		16	44	0	0	0	1	0	16	44				
CSPG4	1464	broad.mit.edu	37	15	75979718	75979718	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:75979718T>C	ENST00000308508.5	-	3	3780	c.3688A>G	c.(3688-3690)Att>Gtt	p.I1230V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1230	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCTAGGGCAATGGTCACTTGT	0.607																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3688-3690)Att>Gtt		chondroitin sulfate proteoglycan 4							57.0	58.0	58.0					15																	75979718		2196	4293	6489	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75979718T>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3688A>G	15.37:g.75979718T>C	ENSP00000312506:p.Ile1230Val						p.I1230V	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3780	-			1230			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3688A>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	2.545	-0.305324	0.05495	.	.	ENSG00000173546	ENST00000308508	T	0.24723	1.84	5.39	-2.37	0.06643	.	0.366841	0.25869	N	0.027761	T	0.08088	0.0202	N	0.11651	0.15	0.30199	N	0.798786	B	0.33212	0.402	B	0.29267	0.1	T	0.43360	-0.9396	10	0.02654	T	1	.	8.3894	0.32520	0.0:0.3883:0.1081:0.5036	.	1230	Q6UVK1	CSPG4_HUMAN	V	1230	ENSP00000312506:I1230V	ENSP00000312506:I1230V	I	-	1	0	CSPG4	73766773	0.216000	0.23585	0.224000	0.23877	0.452000	0.32318	0.318000	0.19504	-0.506000	0.06558	-1.477000	0.00996	ATT		0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	91	0	0	0	1	0	5	91				
MAGI1	9223	broad.mit.edu	37	3	65342560	65342560	+	Silent	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:65342560G>A	ENST00000402939.2	-	23	3881	c.3882C>T	c.(3880-3882)tgC>tgT	p.C1294C	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1323					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.C1294C(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCTTGGGTCGGCATGCCCCGC	0.672																																						ENST00000402939.2																			2	Substitution - coding silent(2)	p.C1294C(2)	kidney(2)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3880-3882)tgC>tgT		membrane associated guanylate kinase, WW and PDZ domain containing 1							86.0	84.0	85.0					3																	65342560		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342560G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3882C>T	3.37:g.65342560G>A						MAGI1_ENST00000330909.8_3'UTR	p.C1294C	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	3881	-		Lung NSC(201;0.0016)	1323					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000402939.2	37	c.3882C>T	CCDS33780.1																																																																																				0.672	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		4	61	0	0	0	1	0	4	61				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	42	0	0	0	1	0	3	42				
STK11IP	114790	broad.mit.edu	37	2	220473305	220473305	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:220473305C>T	ENST00000456909.1	+	15	1694	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V	STK11IP_ENST00000295641.10_Splice_Site_p.A546V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	546	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTCCACAGCGGAACTCTGT	0.632																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.e15-1		serine/threonine kinase 11 interacting protein							38.0	41.0	40.0					2																	220473305		1965	4143	6108	SO:0001630	splice_region_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473305C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1604-1C>T	2.37:g.220473305C>T						STK11IP_ENST00000295641.10_Splice_Site_p.A546_splice	p.A535_splice			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1694	+		Renal(207;0.0183)	546			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Splice_Site	SNP	ENST00000456909.1	37	c.1603_splice		.	.	.	.	.	.	.	.	.	.	C	8.915	0.959715	0.18507	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.03635	3.86;3.86	4.65	0.585	0.17428	.	0.720992	0.12697	N	0.446714	T	0.02267	0.0070	N	0.14661	0.345	0.28273	N	0.92431	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.15052	0.004;0.012;0.012	T	0.46303	-0.9201	9	.	.	.	.	7.6327	0.28249	0.0:0.5043:0.0:0.4957	.	514;546;546	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	V	535;514;546	ENSP00000389383:A535V;ENSP00000295641:A546V	.	A	+	2	0	STK11IP	220181549	0.856000	0.29760	0.989000	0.46669	0.946000	0.59487	-0.014000	0.12656	0.162000	0.19483	0.561000	0.74099	GCG		0.632	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902	Missense_Mutation	13	32	0	0	0	1	0	13	32				
PGBD4	161779	broad.mit.edu	37	15	34394773	34394773	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:34394773G>A	ENST00000397766.2	+	1	500	c.41G>A	c.(40-42)aGt>aAt	p.S14N	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	14										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		atgcgtgatagtaataccggt	0.348																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(40-42)aGt>aAt		piggyBac transposable element derived 4							26.0	28.0	27.0					15																	34394773		2198	4297	6495	SO:0001583	missense	161779							g.chr15:34394773G>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.41G>A	15.37:g.34394773G>A	ENSP00000380872:p.Ser14Asn						p.S14N	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	500	+		all_lung(180;1.76e-08)	14					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.41G>A	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	G	9.376	1.071842	0.20147	.	.	ENSG00000182405	ENST00000397766	T	0.18338	2.22	0.793	-1.24	0.09435	.	67.032600	0.03772	U	0.259926	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	10	0.24483	T	0.36	.	3.5922	0.07993	0.0:0.0:0.455:0.545	.	14	Q96DM1	PGBD4_HUMAN	N	14	ENSP00000380872:S14N	ENSP00000380872:S14N	S	+	2	0	PGBD4	32182065	0.088000	0.21588	0.014000	0.15608	0.316000	0.28119	-0.357000	0.07651	-0.363000	0.08101	0.305000	0.20034	AGT		0.348	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			5	5	0	0	0	1	0	5	5				
MYOF	26509	broad.mit.edu	37	10	95072807	95072807	+	Silent	SNP	G	G	A	rs192250227		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr10:95072807G>A	ENST00000359263.4	-	51	5858	c.5859C>T	c.(5857-5859)taC>taT	p.Y1953Y	MYOF_ENST00000371502.4_Silent_p.Y1943Y|MYOF_ENST00000371501.4_Silent_p.Y1953Y|MYOF_ENST00000358334.5_Silent_p.Y1940Y	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1953					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTTCTCTGCGTAGCATGGCC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21475	0.001		0.0	False		,,,				2504	0.0					ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5857-5859)taC>taT		myoferlin							352.0	336.0	341.0					10																	95072807		1935	4132	6067	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95072807G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5859C>T	10.37:g.95072807G>A						MYOF_ENST00000359263.4_Silent_p.Y1953Y|MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y	p.Y1953Y			Q9NZM1	MYOF_HUMAN			51	5981	-			1953					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.5859C>T	CCDS41551.1																																																																																				0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		11	318	0	0	0	1	0	11	318				
HIST2H3D	653604	broad.mit.edu	37	1	149784871	149784871	+	Silent	SNP	G	G	C			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:149784871G>C	ENST00000331491.1	-	1	365	c.366C>G	c.(364-366)ccC>ccG	p.P122P	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	122					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GGATGTCCTTGGGCATGATGG	0.602																																						ENST00000331491.1																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(364-366)ccC>ccG		histone cluster 2, H3d							46.0	47.0	47.0					1																	149784871		1568	3582	5150	SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149784871G>C	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.366C>G	1.37:g.149784871G>C							p.P122P	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN			1	365	-			122					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.366C>G	CCDS41388.1																																																																																				0.602	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		20	47	0	0	0	1	0	20	47				
NPHP1	4867	broad.mit.edu	37	2	110904384	110904384	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:110904384C>T	ENST00000393272.3	-	14	1560	c.1463G>A	c.(1462-1464)tGt>tAt	p.C488Y	NPHP1_ENST00000316534.4_Missense_Mutation_p.C489Y|NPHP1_ENST00000445609.2_Missense_Mutation_p.C433Y|NPHP1_ENST00000355301.4_Missense_Mutation_p.C370Y|NPHP1_ENST00000417665.1_Missense_Mutation_p.C432Y	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	488					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CACCCAGCCACAGCTTAACTC	0.358																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(1465-1467)tGt>tAt		nephronophthisis 1 (juvenile)							97.0	100.0	99.0					2																	110904384		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110904384C>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1463G>A	2.37:g.110904384C>T	ENSP00000376953:p.Cys488Tyr					NPHP1_ENST00000417665.1_Missense_Mutation_p.C432Y|NPHP1_ENST00000355301.4_Missense_Mutation_p.C370Y|NPHP1_ENST00000393272.3_Missense_Mutation_p.C488Y|NPHP1_ENST00000445609.2_Missense_Mutation_p.C433Y	p.C489Y			O15259	NPHP1_HUMAN			14	1539	-			488					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.1466G>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296326	0.81025	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.67523	-0.22;-0.21;-0.22;-0.16;-0.27	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.999	T	0.82500	-0.0426	10	0.87932	D	0	-15.3577	18.0887	0.89466	0.0:1.0:0.0:0.0	.	432;432;370;488;433;489	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	Y	489;433;488;370;432	ENSP00000313169:C489Y;ENSP00000389879:C433Y;ENSP00000376953:C488Y;ENSP00000347452:C370Y;ENSP00000402176:C432Y	ENSP00000313169:C489Y	C	-	2	0	NPHP1	110261673	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.319000	0.72871	2.873000	0.98535	0.563000	0.77884	TGT		0.358	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		19	51	0	0	0	1	0	19	51				
BNC2	54796	broad.mit.edu	37	9	16727916	16727916	+	Nonsense_Mutation	SNP	A	A	C			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr9:16727916A>C	ENST00000380672.4	-	3	266	c.209T>G	c.(208-210)tTa>tGa	p.L70*	BNC2_ENST00000380667.2_Intron|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380666.2_Nonsense_Mutation_p.L70*|RP11-62F24.2_ENST00000450445.1_RNA	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGAGTCTCTTAAAGTCAAGtc	0.483																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(208-210)tTa>tGa		basonuclin 2							224.0	198.0	207.0					9																	16727916		2203	4300	6503	SO:0001587	stop_gained	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16727916A>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.209T>G	9.37:g.16727916A>C	ENSP00000370047:p.Leu70*					BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380666.2_Nonsense_Mutation_p.L70*|BNC2_ENST00000380667.2_Intron	p.L70*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	3	266	-			70						Nonsense_Mutation	SNP	ENST00000380672.4	37	c.209T>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	A	36	5.735694	0.96865	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380666;ENST00000540340	.	.	.	6.06	6.06	0.98353	.	0.114484	0.38837	N	0.001554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4314	16.6154	0.84909	1.0:0.0:0.0:0.0	.	.	.	.	X	70;27;70;70;70;70	.	ENSP00000370041:L70X	L	-	2	0	BNC2	16717916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.441000	0.66569	2.315000	0.78130	0.533000	0.62120	TTA		0.483	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		35	70	0	0	0	1	0	35	70				
TLL2	7093	broad.mit.edu	37	10	98129890	98129890	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr10:98129890C>T	ENST00000357947.3	-	20	3070	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	949	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCATGTAGTCGTAGCCGCAG	0.662																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2845-2847)Gac>Aac		tolloid-like 2							68.0	59.0	62.0					10																	98129890		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98129890C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2845G>A	10.37:g.98129890C>T	ENSP00000350630:p.Asp949Asn						p.D949N	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	20	3070	-		Colorectal(252;0.0846)	949			CUB 5.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.2845G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225352	0.95173	.	.	ENSG00000095587	ENST00000357947	T	0.33865	1.39	4.22	4.22	0.49857	CUB (5);	0.000000	0.48286	D	0.000191	T	0.67951	0.2948	H	0.95950	3.745	0.80722	D	1	D	0.67145	0.996	P	0.59056	0.851	T	0.80420	-0.1390	10	0.62326	D	0.03	.	16.122	0.81365	0.0:1.0:0.0:0.0	.	949	Q9Y6L7	TLL2_HUMAN	N	949	ENSP00000350630:D949N	ENSP00000350630:D949N	D	-	1	0	TLL2	98119880	1.000000	0.71417	0.965000	0.40720	0.782000	0.44232	7.592000	0.82676	2.340000	0.79590	0.511000	0.50034	GAC		0.662	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			15	18	0	0	0	1	0	15	18				
GIT1	28964	broad.mit.edu	37	17	27908355	27908355	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:27908355C>T	ENST00000225394.3	-	7	1010		c.e7+1		GIT1_ENST00000394869.3_Splice_Site|GIT1_ENST00000581348.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Splice_Site	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1						regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGGCACTCACCTGTCAGCCA	0.552																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.e7+1		G protein-coupled receptor kinase interacting ArfGAP 1							104.0	84.0	91.0					17																	27908355		2203	4300	6503	SO:0001630	splice_region_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27908355C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.761+1G>A	17.37:g.27908355C>T						GIT1_ENST00000581348.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Splice_Site|GIT1_ENST00000394869.3_Splice_Site		NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	7	1010	-								B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Splice_Site	SNP	ENST00000225394.3	37		CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168791	0.78339	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5488	0.76129	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GIT1	24932481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.750000	0.94351	0.561000	0.74099	.		0.552	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030	Intron	9	33	0	0	0	1	0	9	33				
LTN1	26046	broad.mit.edu	37	21	30354657	30354657	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr21:30354657C>G	ENST00000361371.5	-	5	689	c.610G>C	c.(610-612)Gat>Cat	p.D204H	LTN1_ENST00000389194.2_Missense_Mutation_p.D250H|LTN1_ENST00000389195.2_Missense_Mutation_p.D250H			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	204					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTGAGTGTATCAGGTGTTTCT	0.383																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(610-612)Gat>Cat		listerin E3 ubiquitin protein ligase 1							86.0	86.0	86.0					21																	30354657		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30354657C>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.610G>C	21.37:g.30354657C>G	ENSP00000354977:p.Asp204His					LTN1_ENST00000389194.2_Missense_Mutation_p.D250H|LTN1_ENST00000389195.2_Missense_Mutation_p.D250H	p.D204H	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			5	760	-			204					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.610G>C		.	.	.	.	.	.	.	.	.	.	C	16.88	3.245177	0.59103	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.70045	3.54;3.54;-0.45	5.26	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76356	-0.2989	10	0.46703	T	0.11	.	11.9519	0.52961	0.0:0.8644:0.0:0.1355	.	204	O94822	LTN1_HUMAN	H	250;204;206;250	ENSP00000373846:D250H;ENSP00000354977:D204H;ENSP00000373847:D250H	ENSP00000354977:D204H	D	-	1	0	LTN1	29276528	0.998000	0.40836	0.449000	0.26957	0.890000	0.51754	4.067000	0.57527	0.804000	0.34136	-0.793000	0.03317	GAT		0.383	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		23	51	0	0	0	1	0	23	51				
WNK4	65266	broad.mit.edu	37	17	40940794	40940794	+	Silent	SNP	G	G	A	rs372128794		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:40940794G>A	ENST00000246914.5	+	11	2157	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	712					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGGACAGCCCGGAAGAGATTG	0.532																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(2134-2136)ccG>ccA		WNK lysine deficient protein kinase 4		G		1,4405	2.1+/-5.4	0,1,2202	114.0	89.0	97.0		2136	-8.6	0.9	17		97	0,8600		0,0,4300	no	coding-synonymous	WNK4	NM_032387.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		712/1244	40940794	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40940794G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2136G>A	17.37:g.40940794G>A							p.P712P	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	11	2157	+		Breast(137;0.000143)	712					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.2136G>A	CCDS11439.1																																																																																				0.532	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			12	39	0	0	0	1	0	12	39				
SEC14L5	9717	broad.mit.edu	37	16	5055945	5055945	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr16:5055945C>T	ENST00000251170.7	+	12	1513	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	445	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAACACCAGGCGGAAGTTCCT	0.483																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1333-1335)Cgg>Tgg		SEC14-like 5 (S. cerevisiae)							40.0	43.0	42.0					16																	5055945		1928	4122	6050	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5055945C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1333C>T	16.37:g.5055945C>T	ENSP00000251170:p.Arg445Trp						p.R445W	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			12	1513	+			445			CRAL-TRIO.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1333C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902391	0.52227	.	.	ENSG00000103184	ENST00000251170	T	0.60920	0.15	4.06	1.97	0.26223	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.544565	0.17918	N	0.157599	T	0.63640	0.2528	L	0.55213	1.73	0.34303	D	0.684575	D	0.61080	0.989	P	0.55303	0.773	T	0.73474	-0.3971	10	0.72032	D	0.01	-7.7297	12.4035	0.55426	0.2701:0.7299:0.0:0.0	.	445	O43304	S14L5_HUMAN	W	445	ENSP00000251170:R445W	ENSP00000251170:R445W	R	+	1	2	SEC14L5	4995946	1.000000	0.71417	0.594000	0.28785	0.470000	0.32858	2.303000	0.43646	0.322000	0.23283	0.555000	0.69702	CGG		0.483	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			4	8	0	0	0	1	0	4	8				
MYLK	4638	broad.mit.edu	37	3	123359181	123359181	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:123359181G>A	ENST00000475616.1	-	25	4789	c.4790C>T	c.(4789-4791)aCg>aTg	p.T1597M	MYLK_ENST00000354792.5_Missense_Mutation_p.T397M|MYLK_ENST00000360304.3_Missense_Mutation_p.T1597M|MYLK_ENST00000360772.3_Missense_Mutation_p.T1597M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1528M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1597M|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1597	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTGGTGCCCGTCTTGTTGAC	0.562																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4789-4791)aCg>aTg		myosin light chain kinase							270.0	205.0	227.0					3																	123359181		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123359181G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4790C>T	3.37:g.123359181G>A	ENSP00000418335:p.Thr1597Met					MYLK_ENST00000360304.3_Missense_Mutation_p.T1597M|MYLK_ENST00000354792.5_Missense_Mutation_p.T397M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1528M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1597M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1597M	p.T1597M			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	29	5168	-		Lung NSC(201;0.0496)	1597			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4790C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603051	0.87157	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.55	4.68	0.58851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.54565	0.1866	L	0.35644	1.08	0.50813	D	0.999893	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.58064	-0.7702	9	0.72032	D	0.01	.	14.3427	0.66639	0.0712:0.0:0.9288:0.0	.	1597;1528;1597;1528;1597	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	M	1597;1597;1597;1528;397;1597	ENSP00000354004:T1597M;ENSP00000353452:T1597M;ENSP00000352088:T1597M;ENSP00000320622:T1528M;ENSP00000346846:T397M;ENSP00000418335:T1597M	ENSP00000320622:T1528M	T	-	2	0	MYLK	124841871	1.000000	0.71417	0.894000	0.35097	0.983000	0.72400	8.061000	0.89467	1.346000	0.45694	0.557000	0.71058	ACG		0.562	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	113	0	0	0	1	0	4	113				
BRCA2	675	broad.mit.edu	37	13	32914649	32914649	+	Missense_Mutation	SNP	T	T	C	rs562893642		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr13:32914649T>C	ENST00000380152.3	+	11	6390	c.6157T>C	c.(6157-6159)Tct>Cct	p.S2053P	BRCA2_ENST00000544455.1_Missense_Mutation_p.S2053P			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2053					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGTAAATTCATCTGCTTTCTC	0.348			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			T|||	1	0.000199681	0.0	0.0	5008	,	,		19262	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6157-6159)Tct>Cct	Homologous recombination	breast cancer 2, early onset							65.0	64.0	64.0					13																	32914649		2203	4297	6500	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914649T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6157T>C	13.37:g.32914649T>C	ENSP00000369497:p.Ser2053Pro	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.S2053P	p.S2053P	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6384	+		Lung SC(185;0.0262)	2053					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6157T>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	6.058	0.379050	0.11466	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75154	-0.91;-0.91	4.95	-0.595	0.11660	.	1.047120	0.07441	N	0.897339	T	0.51517	0.1679	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.19946	0.027	T	0.34675	-0.9819	10	0.37606	T	0.19	.	0.4851	0.00554	0.3282:0.2614:0.1255:0.2849	.	2053	P51587	BRCA2_HUMAN	P	2053	ENSP00000369497:S2053P;ENSP00000439902:S2053P	ENSP00000369497:S2053P	S	+	1	0	BRCA2	31812649	0.000000	0.05858	0.069000	0.20011	0.987000	0.75469	-1.301000	0.02749	-0.141000	0.11374	-0.326000	0.08463	TCT		0.348	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		21	17	0	0	0	1	0	21	17				
TEX14	56155	broad.mit.edu	37	17	56650661	56650661	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:56650661G>A	ENST00000240361.8	-	24	3615	c.3530C>T	c.(3529-3531)aCg>aTg	p.T1177M	TEX14_ENST00000349033.5_Missense_Mutation_p.T1131M|TEX14_ENST00000389934.3_Missense_Mutation_p.T1171M			Q8IWB6	TEX14_HUMAN	testis expressed 14	1177					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGAATATCCGTCAATGATCT	0.353																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(3511-3513)aCg>aTg		testis expressed 14							194.0	192.0	193.0					17																	56650661		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56650661G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3530C>T	17.37:g.56650661G>A	ENSP00000240361:p.Thr1177Met					TEX14_ENST00000349033.5_Missense_Mutation_p.T1131M|TEX14_ENST00000240361.8_Missense_Mutation_p.T1177M	p.T1171M	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			24	3629	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1177					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3512C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021216	0.35701	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.23348	1.91;1.91;1.91	5.64	-0.431	0.12295	.	0.441750	0.23265	N	0.050081	T	0.14098	0.0341	L	0.34521	1.04	0.24971	N	0.991662	P;P;P	0.41569	0.455;0.755;0.59	B;B;B	0.32533	0.056;0.147;0.12	T	0.14254	-1.0479	10	0.52906	T	0.07	0.0425	8.9621	0.35854	0.4269:0.0:0.5731:0.0	.	1177;1131;1171	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	M	1177;1171;1131	ENSP00000240361:T1177M;ENSP00000374584:T1171M;ENSP00000268910:T1131M	ENSP00000240361:T1177M	T	-	2	0	TEX14	54005660	1.000000	0.71417	0.957000	0.39632	0.882000	0.50991	0.516000	0.22817	-0.004000	0.14419	-0.266000	0.10368	ACG		0.353	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			4	167	0	0	0	1	0	4	167				
TBX19	9095	broad.mit.edu	37	1	168282171	168282171	+	Silent	SNP	G	G	A	rs200161002		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:168282171G>A	ENST00000367821.3	+	8	1329	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	426					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CAGTGGCCTCGCATCCCTTCG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		19916	0.001		0.0	False		,,,				2504	0.0					ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(1276-1278)tcG>tcA		T-box 19							46.0	46.0	46.0					1																	168282171		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168282171G>A	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1278G>A	1.37:g.168282171G>A						TBX19_ENST00000465440.1_3'UTR	p.S426S	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			8	1329	+	all_hematologic(923;0.215)		426					Q52M53	Silent	SNP	ENST00000367821.3	37	c.1278G>A	CCDS1272.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.758	-0.050132	0.07407	.	.	ENSG00000143178	ENST00000431969;ENST00000441464	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.04363	0.0120	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.12553	-1.0543	3	.	.	.	.	3.7652	0.08620	0.5356:0.192:0.1135:0.1589	.	.	.	.	T	296;259	.	.	A	+	1	0	TBX19	166548795	0.005000	0.15991	0.193000	0.23327	0.452000	0.32318	-2.090000	0.01356	-2.324000	0.00638	-1.987000	0.00451	GCA		0.627	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		9	29	0	0	0	1	0	9	29				
KRT79	338785	broad.mit.edu	37	12	53227629	53227629	+	Missense_Mutation	SNP	C	C	G	rs140416696	byFrequency	TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:53227629C>G	ENST00000330553.5	-	1	450	c.416G>C	c.(415-417)cGc>cCc	p.R139P		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	139	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGAGTGCGCACTCGCTG	0.607																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(415-417)cGc>cCc		keratin 79							118.0	116.0	117.0					12																	53227629		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53227629C>G	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.416G>C	12.37:g.53227629C>G	ENSP00000328358:p.Arg139Pro						p.R139P	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			1	450	-			139			Head.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.416G>C	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451542	0.84209	.	.	ENSG00000185640	ENST00000330553	T	0.78126	-1.15	4.26	4.26	0.50523	.	0.000000	0.45126	D	0.000400	D	0.89553	0.6748	M	0.88031	2.925	0.54753	D	0.999988	D	0.89917	1.0	D	0.76575	0.988	D	0.91576	0.5275	10	0.87932	D	0	.	16.9074	0.86131	0.0:1.0:0.0:0.0	.	139	Q5XKE5	K2C79_HUMAN	P	139	ENSP00000328358:R139P	ENSP00000328358:R139P	R	-	2	0	KRT79	51513896	0.988000	0.35896	1.000000	0.80357	0.971000	0.66376	1.911000	0.39937	2.643000	0.89663	0.591000	0.81541	CGC		0.607	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		34	96	0	0	0	1	0	34	96				
KCTD1	284252	broad.mit.edu	37	18	24039836	24039836	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr18:24039836C>G	ENST00000408011.3	-	4	922	c.363G>C	c.(361-363)ttG>ttC	p.L121F	KCTD1_ENST00000579973.1_Missense_Mutation_p.L121F|KCTD1_ENST00000417602.1_Missense_Mutation_p.L729F|KCTD1_ENST00000580059.1_Missense_Mutation_p.L121F|KCTD1_ENST00000317932.7_Missense_Mutation_p.L121F	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	121					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCATCTCCAACAACATGGGCT	0.448																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(2185-2187)ttG>ttC		potassium channel tetramerization domain containing 1							96.0	92.0	94.0					18																	24039836		2203	4298	6501	SO:0001583	missense	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24039836C>G	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.363G>C	18.37:g.24039836C>G	ENSP00000384367:p.Leu121Phe					KCTD1_ENST00000580059.1_Missense_Mutation_p.L121F|KCTD1_ENST00000317932.7_Missense_Mutation_p.L121F|KCTD1_ENST00000408011.3_Missense_Mutation_p.L121F|KCTD1_ENST00000579973.1_Missense_Mutation_p.L121F	p.L729F	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		4	2186	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		121					A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.2187G>C	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875215	0.51695	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.44482	0.92;0.92;0.92	5.22	3.02	0.34903	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.068413	0.64402	D	0.000013	T	0.31389	0.0795	N	0.25245	0.725	0.46798	D	0.999201	B	0.31256	0.316	B	0.41619	0.361	T	0.16630	-1.0396	10	0.56958	D	0.05	.	4.4838	0.11780	0.1517:0.5812:0.1491:0.1179	.	121	Q719H9	KCTD1_HUMAN	F	121;729;121	ENSP00000314831:L121F;ENSP00000408405:L729F;ENSP00000384367:L121F	ENSP00000314831:L121F	L	-	3	2	KCTD1	22293834	0.045000	0.20229	1.000000	0.80357	0.999000	0.98932	0.295000	0.19065	1.155000	0.42497	0.655000	0.94253	TTG		0.448	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		10	124	0	0	0	1	0	10	124				
ACTRT3	84517	broad.mit.edu	37	3	169486095	169486095	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:169486095C>T	ENST00000330368.2	-	2	618	c.244G>A	c.(244-246)Gag>Aag	p.E82K	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	82						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											CACATGATCTCCATGTCCTCC	0.448																																						ENST00000330368.2																			0											c.(244-246)Gag>Aag		actin-related protein T3							68.0	65.0	66.0					3																	169486095		2203	4300	6503	SO:0001583	missense	84517					cytoplasm|cytoskeleton		g.chr3:169486095C>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.244G>A	3.37:g.169486095C>T	ENSP00000333037:p.Glu82Lys						p.E82K	NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN			2	618	-			82					Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	c.244G>A	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592772	0.66219	.	.	ENSG00000184378	ENST00000330368	D	0.97994	-4.65	4.84	4.84	0.62591	.	0.000000	0.56097	D	0.000040	D	0.98757	0.9582	M	0.85373	2.75	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99560	1.0968	10	0.87932	D	0	.	17.2429	0.87019	0.0:1.0:0.0:0.0	.	82	Q9BYD9	ARPM1_HUMAN	K	82	ENSP00000333037:E82K	ENSP00000333037:E82K	E	-	1	0	AC078802.1	170968789	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.534000	0.82004	2.687000	0.91594	0.655000	0.94253	GAG		0.448	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		13	39	0	0	0	1	0	13	39				
UGT2B4	7363	broad.mit.edu	37	4	70346534	70346534	+	Missense_Mutation	SNP	G	G	A	rs200320318	byFrequency	TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr4:70346534G>A	ENST00000305107.6	-	6	1451	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	UGT2B4_ENST00000512583.1_3'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000381096.3_Missense_Mutation_p.R333C|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	469					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CCTTTATGGCGCATGACAAAT	0.478													g|||	2	0.000399361	0.0	0.0029	5008	,	,		16894	0.0		0.0	False		,,,				2504	0.0					ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1405-1407)Cgc>Tgc		UDP glucuronosyltransferase 2 family, polypeptide B4							131.0	128.0	129.0					4																	70346534		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346534G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1405C>T	4.37:g.70346534G>A	ENSP00000305221:p.Arg469Cys					UGT2B4_ENST00000381096.3_Missense_Mutation_p.R333C|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR	p.R469C	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			6	1451	-			469					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1405C>T	CCDS43234.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	9.056	0.993240	0.19043	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.72942	-0.7;-0.7	2.11	0.328	0.15918	.	0.000000	0.64402	U	0.000003	T	0.69691	0.3139	M	0.94063	3.49	0.37634	D	0.921782	B;B	0.31153	0.31;0.279	B;B	0.38156	0.266;0.159	T	0.71948	-0.4438	10	0.66056	D	0.02	.	6.0846	0.19960	0.2915:0.0:0.7085:0.0	.	333;469	A6NCP7;P06133	.;UD2B4_HUMAN	C	469;333	ENSP00000305221:R469C;ENSP00000370486:R333C	ENSP00000305221:R469C	R	-	1	0	UGT2B4	70381123	0.858000	0.29795	0.992000	0.48379	0.405000	0.30901	0.411000	0.21115	0.051000	0.15978	0.305000	0.20034	CGC		0.478	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		45	136	0	0	0	1	0	45	136				
MED23	9439	broad.mit.edu	37	6	131923454	131923454	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:131923454G>A	ENST00000368068.3	-	17	2178	c.1999C>T	c.(1999-2001)Cgc>Tgc	p.R667C	MED23_ENST00000545957.1_Missense_Mutation_p.R308C|MED23_ENST00000403834.3_Missense_Mutation_p.R673C|MED23_ENST00000540546.1_Missense_Mutation_p.R673C|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368058.1_Missense_Mutation_p.R673C|MED23_ENST00000354577.4_Missense_Mutation_p.R673C|MED23_ENST00000368053.4_Missense_Mutation_p.R673C|MED23_ENST00000368060.3_Missense_Mutation_p.R667C	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	667					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTAAGGAAGCGTGTAAACTGC	0.433																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2017-2019)Cgc>Tgc		mediator complex subunit 23							150.0	131.0	137.0					6																	131923454		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131923454G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1999C>T	6.37:g.131923454G>A	ENSP00000357047:p.Arg667Cys					MED23_ENST00000368068.3_Missense_Mutation_p.R667C|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000540546.1_Missense_Mutation_p.R673C|MED23_ENST00000368060.3_Missense_Mutation_p.R667C|MED23_ENST00000368058.1_Missense_Mutation_p.R673C|MED23_ENST00000368053.4_Missense_Mutation_p.R673C|MED23_ENST00000545957.1_Missense_Mutation_p.R308C|MED23_ENST00000354577.4_Missense_Mutation_p.R673C	p.R673C			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	17	2190	-	Breast(56;0.0753)		667					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2017C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168350	0.94768	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.988;0.999;0.998	D	0.86664	0.1906	10	0.87932	D	0	0.4032	19.8316	0.96638	0.0:0.0:1.0:0.0	.	308;673;667;673	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	C	673;667;673;667;56;673;308;673;673	ENSP00000346588:R673C;ENSP00000357047:R667C;ENSP00000384536:R673C;ENSP00000357039:R667C;ENSP00000357037:R673C;ENSP00000439977:R308C;ENSP00000357032:R673C;ENSP00000437818:R673C	ENSP00000346588:R673C	R	-	1	0	MED23	131965147	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	CGC		0.433	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			4	105	0	0	0	1	0	4	105				
PCDHB3	56132	broad.mit.edu	37	5	140482266	140482266	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr5:140482266C>T	ENST00000231130.2	+	1	2033	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	678					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCACCGGCCCAGGCC	0.672																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2032-2034)cCg>cTg									67.0	73.0	71.0					5																	140482266		2154	4222	6376	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482266C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2033C>T	5.37:g.140482266C>T	ENSP00000231130:p.Pro678Leu						p.P678L	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2033	+			678					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2033C>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606500	0.28623	.	.	ENSG00000113205	ENST00000231130	T	0.51817	0.69	4.29	-1.54	0.08584	.	.	.	.	.	T	0.41351	0.1155	M	0.76170	2.325	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.45673	-0.9245	9	0.54805	T	0.06	.	3.1527	0.06494	0.1244:0.4593:0.2571:0.1591	.	678	Q9Y5E6	PCDB3_HUMAN	L	678	ENSP00000231130:P678L	ENSP00000231130:P678L	P	+	2	0	PCDHB3	140462450	0.005000	0.15991	0.000000	0.03702	0.058000	0.15608	0.878000	0.28126	0.014000	0.14944	0.485000	0.47835	CCG		0.672	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		45	117	0	0	0	1	0	45	117				
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		3	Substitution - Missense(3)	p.L62R(3)	lung(2)|central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(184-186)cTt>cGt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175.0	167.0	170.0					7																	55210075		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210075T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R	p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	362	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		62					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		1332	72	0	0	0	1	0	1332	72				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			4	9						4	9	---	---	---	---
RPL24	6152	broad.mit.edu	37	3	101401316	101401316	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:101401316delT	ENST00000394077.3	-	5	455	c.350delA	c.(349-351)aagfs	p.K117fs	RPL24_ENST00000469605.1_Frame_Shift_Del_p.K117fs|RPL24_ENST00000495401.1_Intron	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	117					cellular protein metabolic process (GO:0044267)|exit from mitosis (GO:0010458)|gene expression (GO:0010467)|mitotic cell cycle checkpoint (GO:0007093)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|optic nerve development (GO:0021554)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|ribosomal large subunit assembly (GO:0000027)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(2)|urinary_tract(1)	4						TTGCTTAGCCTTTTTTGCTTC	0.368																																						ENST00000469605.1																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(349-351)agfs		ribosomal protein L24							110.0	112.0	111.0					3																	101401316		2203	4300	6503	SO:0001589	frameshift_variant	6152				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:101401316delT	AB007177	CCDS33809.1	3q12	2011-04-06			ENSG00000114391	ENSG00000114391		"""L ribosomal proteins"""	10325	protein-coding gene	gene with protein product		604180				9582194	Standard	NM_000986		Approved	L24	uc003dvh.1	P83731	OTTHUMG00000159146	ENST00000394077.3:c.350delA	3.37:g.101401316delT	ENSP00000377640:p.Lys117fs					RPL24_ENST00000394077.3_Frame_Shift_Del_p.K117fs|RPL24_ENST00000495401.1_Intron	p.K117fs			P83731	RL24_HUMAN			5	368	-			117					B2R4Y3|P38663|Q6IBS3	Frame_Shift_Del	DEL	ENST00000394077.3	37	c.350delA	CCDS33809.1																																																																																				0.368	RPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353487.1	NM_000986		7	147						7	147	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000398940.1_Splice_Site_p.A37del|MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	67						7	67	---	---	---	---
SAMD5	389432	broad.mit.edu	37	6	148018465	148018465	+	lincRNA	DEL	A	A	-			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:148018465delA	ENST00000427015.1	+	0	117																											TTTGTTCTCTAAACCCAGTTT	0.388																																						ENST00000427015.1																			0																																																			0							g.chr6:148018465delA																													6.37:g.148018465delA														0	117	+									RNA	DEL	ENST00000427015.1	37																																																																																						0.388	RP11-307P5.1-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042615.1			2	4						2	4	---	---	---	---
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358																																						ENST00000568520.1																			0																																																			0							g.chr16:33365420delA																													16.37:g.33365420delA														0	249	-									RNA	DEL	ENST00000568520.1	37																																																																																						0.358	RP11-23E10.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432134.1			4	3						4	3	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29562708	29562710	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:29562708_29562710delAAG	ENST00000358273.4	+	28	4171_4173	c.3788_3790delAAG	c.(3787-3792)aaagaa>aaa	p.E1264del	NF1_ENST00000356175.3_In_Frame_Del_p.E1264del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1264	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.E1264K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGTTTTCTAAAGAAGTAGAATT	0.399			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	p.0?(8)|p.?(4)|p.E1264K(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(3787-3792)aaa>a		neurofibromin 1																																				SO:0001651	inframe_deletion	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562708_29562710delAAG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3788_3790delAAG	17.37:g.29562711_29562713delAAG	ENSP00000351015:p.Glu1264del	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_In_Frame_Del_p.KE1263del	p.KE1263del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	28	4171_4173	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1263			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	In_Frame_Del	DEL	ENST00000358273.4	37	c.3788_3790delAAG	CCDS42292.1																																																																																				0.399	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		69	196						69	196	---	---	---	---
FCGRT	2217	broad.mit.edu	37	19	50028814	50028816	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr19:50028814_50028816delGAG	ENST00000221466.5	+	6	1458_1460	c.972_974delGAG	c.(970-975)atgagg>atg	p.R325del	RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000599988.1_In_Frame_Del_p.R59del|FCGRT_ENST00000596975.1_In_Frame_Del_p.R233del|FCGRT_ENST00000426395.3_In_Frame_Del_p.R325del	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	325					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GGAGAAGGATGAGGAGTGGGCTG	0.616																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(970-975)atg>at		Fc fragment of IgG, receptor, transporter, alpha																																				SO:0001651	inframe_deletion	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50028814_50028816delGAG	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.972_974delGAG	19.37:g.50028817_50028819delGAG	ENSP00000221466:p.Arg325del					FCGRT_ENST00000426395.3_In_Frame_Del_p.MR324del|FCGRT_ENST00000599988.1_In_Frame_Del_p.MR58del|FCGRT_ENST00000596975.1_In_Frame_Del_p.MR232del	p.MR324del	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	6	1458_1460	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	324					Q5HYM5|Q9HBV7|Q9NZ19	In_Frame_Del	DEL	ENST00000221466.5	37	c.972_974delGAG	CCDS12770.1																																																																																				0.616	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			13	24						13	24	---	---	---	---
