#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
ARHGEF1	9138	broad.mit.edu	37	19	42396179	42396179	+	Silent	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42396179C>T	ENST00000354532.3	+	5	457	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ARHGEF1_ENST00000337665.4_Silent_p.F118F|ARHGEF1_ENST00000599846.1_Silent_p.F103F|ARHGEF1_ENST00000347545.4_Intron|ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000596957.1_3'UTR	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	103	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCACAGCTTCCTGGAGAAGA	0.612																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(307-309)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 1							54.0	51.0	52.0					19																	42396179		2203	4300	6503	SO:0001819	synonymous_variant	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396179C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.309C>T	19.37:g.42396179C>T						ARHGEF1_ENST00000347545.4_Intron|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000354532.3_Silent_p.F103F|ARHGEF1_ENST00000337665.4_Silent_p.F118F|ARHGEF1_ENST00000378152.4_Intron	p.F103F			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	5	434	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	103			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.309C>T	CCDS12591.1																																																																																				0.612	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		29	33	0	0	0	1	0	29	33				
FAM132A	388581	broad.mit.edu	37	1	1179654	1179654	+	Splice_Site	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:1179654C>T	ENST00000330388.2	-	3	327	c.296G>A	c.(295-297)cGg>cAg	p.R99Q		NM_001014980.2	NP_001014980.1	Q5T7M4	ADIPL_HUMAN	family with sequence similarity 132, member A	99					negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGAGATCCCGCTGGGGGGA	0.672																																						ENST00000330388.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.e3-1		family with sequence similarity 132, member A							27.0	35.0	32.0					1																	1179654		2185	4285	6470	SO:0001630	splice_region_variant	388581					extracellular region		g.chr1:1179654C>T	BC089443	CCDS30554.1	1p36.33	2012-03-26	2007-03-27	2007-03-27	ENSG00000184163	ENSG00000184163			32308	protein-coding gene	gene with protein product	"""adipolin"", ""adipose-derived insulin-sensitizing factor"""		"""C1q domain containing 2"""	C1QDC2		21849507	Standard	NM_001014980		Approved	MGC105127, C1QTNF12, CTRP12	uc001adl.2	Q5T7M4	OTTHUMG00000001412	ENST00000330388.2:c.295-1G>A	1.37:g.1179654C>T							p.R99_splice	NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	327	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	99					Q5EBL5	Splice_Site	SNP	ENST00000330388.2	37	c.294_splice	CCDS30554.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.989988	0.54041	.	.	ENSG00000184163	ENST00000330388	T	0.42900	0.96	3.76	1.7	0.24286	.	0.794942	0.10532	N	0.663663	T	0.34919	0.0914	M	0.69823	2.125	0.34702	D	0.726873	B	0.27117	0.168	B	0.19148	0.024	T	0.33085	-0.9882	10	0.12430	T	0.62	.	5.7602	0.18196	0.0:0.7224:0.0:0.2776	.	99	Q5T7M4	F132A_HUMAN	Q	99	ENSP00000329137:R99Q	ENSP00000329137:R99Q	R	-	2	0	FAM132A	1169517	0.002000	0.14202	0.440000	0.26846	0.002000	0.02628	0.109000	0.15417	0.333000	0.23563	-0.417000	0.06048	CGG		0.672	FAM132A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004080.4	XM_371208	Missense_Mutation	3	44	0	0	0	1	0	3	44				
TRPC6	7225	broad.mit.edu	37	11	101375482	101375482	+	Missense_Mutation	SNP	C	C	T	rs371919016		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:101375482C>T	ENST00000344327.3	-	2	642	c.218G>A	c.(217-219)cGt>cAt	p.R73H	TRPC6_ENST00000360497.4_Missense_Mutation_p.R73H|TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000348423.4_Missense_Mutation_p.R73H|TRPC6_ENST00000532133.1_Missense_Mutation_p.R73H	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	73					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCCTTCTCACGGAGAACTGT	0.463																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(217-219)cGt>cAt		transient receptor potential cation channel, subfamily C, member 6							82.0	89.0	86.0					11																	101375482		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375482C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.218G>A	11.37:g.101375482C>T	ENSP00000340913:p.Arg73His					TRPC6_ENST00000532133.1_Missense_Mutation_p.R73H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R73H|TRPC6_ENST00000348423.4_Missense_Mutation_p.R73H|TRPC6_ENST00000526713.1_5'UTR	p.R73H	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	642	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	73					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.218G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524034	0.85600	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;D	0.81821	-1.34;-1.4;-1.3;-1.54	5.6	5.6	0.85130	.	0.306298	0.35708	N	0.003029	D	0.87613	0.6221	L	0.47190	1.495	0.52501	D	0.999951	D;D;D	0.89917	0.998;1.0;0.997	P;D;P	0.83275	0.891;0.996;0.683	D	0.88200	0.2883	10	0.87932	D	0	-15.021	19.6251	0.95674	0.0:1.0:0.0:0.0	.	73;73;73	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	H	73	ENSP00000340913:R73H;ENSP00000435574:R73H;ENSP00000343672:R73H;ENSP00000353687:R73H	ENSP00000340913:R73H	R	-	2	0	TRPC6	100880692	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.126000	0.71635	2.636000	0.89361	0.655000	0.94253	CGT		0.463	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		68	124	0	0	0	1	0	68	124				
NLRX1	79671	broad.mit.edu	37	11	119050958	119050958	+	Missense_Mutation	SNP	G	G	A	rs151306288	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:119050958G>A	ENST00000409109.1	+	7	2815	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	NLRX1_ENST00000525863.1_Missense_Mutation_p.R743H|NLRX1_ENST00000292199.2_Missense_Mutation_p.R743H|NLRX1_ENST00000409991.1_Missense_Mutation_p.R743H|NLRX1_ENST00000409265.4_Missense_Mutation_p.R743H	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	743	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGGGCTGCGCACACTCCTG	0.612													G|||	5	0.000998403	0.0023	0.0	5008	,	,		19473	0.0		0.0	False		,,,				2504	0.002					ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2227-2229)cGc>cAc		NLR family member X1							35.0	33.0	34.0					11																	119050958		2199	4288	6487	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050958G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2228G>A	11.37:g.119050958G>A	ENSP00000387334:p.Arg743His					NLRX1_ENST00000292199.2_Missense_Mutation_p.R743H|NLRX1_ENST00000409991.1_Missense_Mutation_p.R743H|NLRX1_ENST00000409265.4_Missense_Mutation_p.R743H|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.R743H	p.R743H			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2815	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	743			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2228G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	6.471	0.455007	0.12283	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.17	2.17	0.27698	.	0.269729	0.34338	N	0.004047	T	0.23886	0.0578	N	0.11560	0.145	0.28244	N	0.925545	B;B	0.22983	0.078;0.005	B;B	0.18871	0.023;0.001	T	0.17653	-1.0362	10	0.17369	T	0.5	.	9.3735	0.38268	0.2439:0.0:0.7561:0.0	.	743;743	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	H	743	ENSP00000386851:R743H;ENSP00000292199:R743H;ENSP00000386858:R743H;ENSP00000387334:R743H;ENSP00000433442:R743H	ENSP00000292199:R743H	R	+	2	0	NLRX1	118556168	0.830000	0.29337	0.995000	0.50966	0.102000	0.19082	1.060000	0.30530	0.165000	0.19558	-0.643000	0.03959	CGC		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		93	42	0	0	0	1	0	93	42				
LGR5	8549	broad.mit.edu	37	12	71978154	71978154	+	Silent	SNP	C	C	G	rs147161623	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:71978154C>G	ENST00000266674.5	+	18	2675	c.2364C>G	c.(2362-2364)tcC>tcG	p.S788S	LGR5_ENST00000540815.2_Silent_p.S764S|LGR5_ENST00000536515.1_Silent_p.S716S|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	788					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGTCCTTCTCCTCTTTAATAA	0.428																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2362-2364)tcC>tcG		leucine-rich repeat containing G protein-coupled receptor 5							139.0	137.0	138.0					12																	71978154		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978154C>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2364C>G	12.37:g.71978154C>G						LGR5_ENST00000540815.2_Silent_p.S764S|LGR5_ENST00000536515.1_Silent_p.S716S	p.S788S			O75473	LGR5_HUMAN			18	2675	+			788					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.2364C>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	6.716	0.500865	0.12822	.	.	ENSG00000139292	ENST00000451585	.	.	.	5.84	2.0	0.26442	.	.	.	.	.	T	0.44973	0.1319	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10109	-1.0644	5	0.10902	T	0.67	.	10.143	0.42747	0.0:0.6732:0.0:0.3268	.	.	.	.	V	768	.	ENSP00000414152:L768V	L	+	1	0	LGR5	70264421	0.936000	0.31750	0.991000	0.47740	0.994000	0.84299	0.144000	0.16135	0.394000	0.25230	0.650000	0.86243	CTC		0.428	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		5	168	0	0	0	1	0	5	168				
CHEK2	11200	broad.mit.edu	37	22	29090043	29090043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:29090043C>T	ENST00000405598.1	-	14	1629	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T	CHEK2_ENST00000328354.6_Missense_Mutation_p.A480T|CHEK2_ENST00000402731.1_Missense_Mutation_p.A451T|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.A523T|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.A480T|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.A389T|CHEK2_ENST00000348295.3_Missense_Mutation_p.A451T|CHEK2_ENST00000544772.1_Missense_Mutation_p.A259T|CHEK2_ENST00000403642.1_Missense_Mutation_p.A389T			O96017	CHK2_HUMAN	checkpoint kinase 2	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGTCTTAAGGCTTCTTCTGTC	0.488			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(775-777)Gcc>Acc	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							227.0	251.0	242.0					22																	29090043		1389	2350	3739	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29090043C>T	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1438G>A	22.37:g.29090043C>T	ENSP00000386087:p.Ala480Thr					CHEK2_ENST00000382578.1_Missense_Mutation_p.A389T|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.A451T|CHEK2_ENST00000404276.1_Missense_Mutation_p.A480T|CHEK2_ENST00000405598.1_Missense_Mutation_p.A480T|CHEK2_ENST00000402731.1_Missense_Mutation_p.A451T|CHEK2_ENST00000328354.6_Missense_Mutation_p.A480T|CHEK2_ENST00000403642.1_Missense_Mutation_p.A389T|CHEK2_ENST00000382580.2_Missense_Mutation_p.A523T|CHEK2_ENST00000382565.1_Intron	p.A259T	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			14	2211	-			480			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.775G>A	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003705	0.93287	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.52983	0.95;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.95	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.71920	2.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.994;0.992	D;D;D;D;D;P	0.81914	0.991;0.979;0.995;0.989;0.938;0.804	T	0.64605	-0.6368	10	0.32370	T	0.25	-3.8768	18.3006	0.90162	0.0:1.0:0.0:0.0	.	389;259;480;451;480;523	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	T	451;389;163;259;480;480;480;523;389;451	ENSP00000329012:A451T;ENSP00000372021:A389T;ENSP00000442458:A259T;ENSP00000329178:A480T;ENSP00000385747:A480T;ENSP00000386087:A480T;ENSP00000372023:A523T;ENSP00000384919:A389T;ENSP00000384835:A451T	ENSP00000329178:A480T	A	-	1	0	CHEK2	27420043	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.465000	0.66725	2.578000	0.87016	0.555000	0.69702	GCC		0.488	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		97	131	0	0	0	1	0	97	131				
AMACR	23600	broad.mit.edu	37	5	33989379	33989379	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:33989379A>G	ENST00000335606.6	-	5	1056	c.968T>C	c.(967-969)gTg>gCg	p.V323A	AMACR_ENST00000382085.3_Missense_Mutation_p.V323A|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.V308A	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	323					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GCGGGGGCTCACGTCCTGCTC	0.507																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(967-969)gTg>gCg		alpha-methylacyl-CoA racemase							92.0	90.0	91.0					5																	33989379		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:33989379A>G	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.968T>C	5.37:g.33989379A>G	ENSP00000334424:p.Val323Ala					AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.V323A|AMACR_ENST00000502637.1_Missense_Mutation_p.V308A	p.V323A	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN			5	1056	-			323					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.968T>C	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	A	1.453	-0.564392	0.03939	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.61980	0.06;0.06;0.06	5.6	3.03	0.35002	CoA-transferase family III domain (1);	0.853418	0.10611	N	0.654465	T	0.47060	0.1425	L	0.35593	1.075	0.18873	N	0.999989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.30794	-0.9966	10	0.13108	T	0.6	-3.9512	8.4017	0.32590	0.8105:0.0:0.1895:0.0	.	323;308;323	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	A	323;323;308	ENSP00000334424:V323A;ENSP00000371517:V323A;ENSP00000424351:V308A	ENSP00000334424:V323A	V	-	2	0	AMACR	34025136	0.018000	0.18449	0.108000	0.21378	0.072000	0.16883	2.416000	0.44644	0.401000	0.25424	0.519000	0.50382	GTG		0.507	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		42	82	0	0	0	1	0	42	82				
MTHFD2P1	100287639	broad.mit.edu	37	3	95374179	95374179	+	RNA	SNP	C	C	T	rs567358967		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:95374179C>T	ENST00000494840.1	-	0	1682					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		GATATTCTAACGGTGGCATCA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		20384	0.0		0.0	False		,,,				2504	0.001					ENST00000494840.1																			0																																																			0							g.chr3:95374179C>T			3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374179C>T								NR_077228.1						0	1682	-									RNA	SNP	ENST00000494840.1	37																																																																																						0.418	MTHFD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352943.1			16	25	0	0	0	1	0	16	25				
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:7578524G>C	ENST00000269305.4	-	5	595	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000420246.2_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGGCCAGTTGGCAAAACATC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM971503	TP53	M		c.(406-408)Caa>Gaa	Other conserved DNA damage response genes	tumor protein p53							52.0	52.0	52.0					17																	7578524		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578524G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.406C>G	17.37:g.7578524G>C	ENSP00000269305:p.Gln136Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E	p.Q136E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	538	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.406C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708589	0.89018	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.85373	2.75	0.80722	D	1	P;D;P;D;D;D;D	0.67145	0.95;0.977;0.572;0.989;0.996;0.981;0.996	P;D;B;P;D;D;D	0.69654	0.794;0.928;0.197;0.888;0.965;0.941;0.909	D	0.97401	0.9996	10	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	97;136;136;43;136;136;136	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	136;136;136;136;136;136;125;43;4;43;4;136	ENSP00000410739:Q136E;ENSP00000352610:Q136E;ENSP00000269305:Q136E;ENSP00000398846:Q136E;ENSP00000391127:Q136E;ENSP00000391478:Q136E;ENSP00000425104:Q4E;ENSP00000423862:Q43E;ENSP00000424104:Q136E	ENSP00000269305:Q136E	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		70	4	0	0	0	1	0	70	4				
CFAP45	25790	broad.mit.edu	37	1	159842834	159842834	+	Missense_Mutation	SNP	G	G	A	rs148876212	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:159842834G>A	ENST00000368099.4	-	11	1541	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	RP11-190A12.7_ENST00000544342.1_5'Flank|CCDC19_ENST00000426543.2_Missense_Mutation_p.R408W|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTGGCAATCCGGTTCTGCACT	0.597																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(1222-1224)Cgg>Tgg		coiled-coil domain containing 19		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	83.0	79.0	81.0		1477	5.3	1.0	1	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC19	NM_012337.2	101	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	493/552	159842834	4,13002	2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159842834G>A																												ENST00000368099.4:c.1477C>T	1.37:g.159842834G>A	ENSP00000357079:p.Arg493Trp					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R493W	p.R408W			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		11	1677	-	all_hematologic(112;0.0597)		493						Missense_Mutation	SNP	ENST00000368099.4	37	c.1222C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994216	0.93167	6.81E-4	1.16E-4	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.12569	2.67;2.67	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14727	-1.0462	9	.	.	.	-24.1753	16.7323	0.85438	0.0:0.0:1.0:0.0	.	493	Q9UL16	CCD19_HUMAN	W	493;408	ENSP00000357079:R493W;ENSP00000403044:R408W	.	R	-	1	2	CCDC19	158109458	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	4.024000	0.57218	2.609000	0.88269	0.655000	0.94253	CGG		0.597	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			7	99	0	0	0	1	0	7	99				
ZDHHC11	79844	broad.mit.edu	37	5	840585	840585	+	Intron	SNP	C	C	T	rs185894947		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:840585C>T	ENST00000283441.8	-	5	1168				ZDHHC11_ENST00000511539.1_Missense_Mutation_p.R57Q|ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TTGGGGGGATCGGGGGCTTAG	0.597																																						ENST00000511539.1																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(169-171)cGa>cAa		zinc finger, DHHC-type containing 11							46.0	47.0	47.0					5																	840585		2203	4300	6503	SO:0001627	intron_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:840585C>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.784+24G>A	5.37:g.840585C>T						ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000283441.8_Intron	p.R57Q			Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		2	274	-			0					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.170G>A	CCDS3857.1	70	0.03205128205128205	65	0.13211382113821138	5	0.013812154696132596	0	0.0	0	0.0	c	5.136	0.210635	0.09757	.	.	ENSG00000188818	ENST00000511539	T	0.50277	0.75	0.677	-1.35	0.09114	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	P	0.50943	0.94	B	0.32149	0.141	T	0.03673	-1.1014	7	0.46703	T	0.11	.	.	.	.	.	57	Q6UWR9	.	Q	57	ENSP00000427067:R57Q	ENSP00000427067:R57Q	R	-	2	0	ZDHHC11	893585	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.345000	0.07770	-0.982000	0.03515	-1.051000	0.02340	CGA		0.597	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		4	58	0	0	0	1	0	4	58				
PPFIA4	8497	broad.mit.edu	37	1	203025938	203025938	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:203025938C>G	ENST00000447715.2	+	24	2642	c.2201C>G	c.(2200-2202)cCc>cGc	p.P734R	PPFIA4_ENST00000367240.2_Missense_Mutation_p.P735R|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P250R|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P463R|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P250R|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P250R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	734					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCAGCAACCCCAGCAGCAGC	0.562																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2203-2205)cCc>cGc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							23.0	27.0	26.0					1																	203025938		2173	4287	6460	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025938C>G	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2201C>G	1.37:g.203025938C>G	ENSP00000402576:p.Pro734Arg					PPFIA4_ENST00000272198.6_Missense_Mutation_p.P250R|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P250R|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P734R|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P463R|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P250R	p.P735R			O75335	LIPA4_HUMAN			18	2731	+			250					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.2204C>G		.	.	.	.	.	.	.	.	.	.	c	17.91	3.503512	0.64298	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.06	5.06	0.68205	.	0.000000	0.45126	D	0.000387	T	0.47691	0.1459	L	0.58810	1.83	0.47511	D	0.999445	B;B;B;B	0.17667	0.023;0.019;0.007;0.004	B;B;B;B	0.23419	0.046;0.032;0.029;0.013	T	0.38845	-0.9642	10	0.21540	T	0.41	-31.0856	18.6163	0.91304	0.0:1.0:0.0:0.0	.	463;734;250;250	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	R	735;734;250;463;250	ENSP00000356209:P735R;ENSP00000402576:P734R;ENSP00000295706:P250R;ENSP00000400379:P463R;ENSP00000272198:P250R	ENSP00000272198:P250R	P	+	2	0	PPFIA4	201292561	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.784000	0.38674	2.628000	0.89032	0.556000	0.70494	CCC		0.562	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		4	11	0	0	0	1	0	4	11				
SAMSN1	64092	broad.mit.edu	37	21	15893493	15893493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr21:15893493G>T	ENST00000400566.1	-	2	188	c.107C>A	c.(106-108)tCa>tAa	p.S36*	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Nonsense_Mutation_p.S104*	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	36					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCTGGTTTTGATAAAGAATT	0.299																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(310-312)tCa>tAa		SAM domain, SH3 domain and nuclear localization signals 1							39.0	37.0	37.0					21																	15893493		1804	4066	5870	SO:0001587	stop_gained	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15893493G>T	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.107C>A	21.37:g.15893493G>T	ENSP00000383411:p.Ser36*					SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S36*	p.S104*	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	3	485	-			36					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Nonsense_Mutation	SNP	ENST00000400566.1	37	c.311C>A	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235450	0.58886	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	.	.	.	5.48	4.59	0.56863	.	0.583271	0.17892	N	0.158496	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-19.9121	14.5335	0.67942	0.0718:0.0:0.9282:0.0	.	.	.	.	X	104;36	.	ENSP00000285670:S104X	S	-	2	0	SAMSN1	14815364	1.000000	0.71417	0.962000	0.40283	0.724000	0.41520	5.064000	0.64338	2.555000	0.86185	0.557000	0.71058	TCA		0.299	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			3	51	1	0	1	1	1	3	51				
GOLGA4	2803	broad.mit.edu	37	3	37369109	37369109	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:37369109A>G	ENST00000361924.2	+	14	6106	c.5732A>G	c.(5731-5733)cAt>cGt	p.H1911R	GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1933R|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1911	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCCAAATCACATTTGGTCCAA	0.403																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5731-5733)cAt>cGt		golgin A4							99.0	101.0	100.0					3																	37369109		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37369109A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5732A>G	3.37:g.37369109A>G	ENSP00000354486:p.His1911Arg					GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1933R|GOLGA4_ENST00000444882.1_Intron	p.H1911R	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	6106	+			1911			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.5732A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	0.823	-0.748110	0.03065	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.21932	1.99;1.98;1.99	4.08	-3.0	0.05480	.	.	.	.	.	T	0.16214	0.0390	M	0.68317	2.08	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.005;0.001	B;B;B;B	0.09377	0.004;0.004;0.004;0.001	T	0.38134	-0.9675	9	0.18710	T	0.47	.	3.0927	0.06299	0.241:0.1254:0.4523:0.1814	.	1911;1911;1933;1911	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	R	1911;1933;1782	ENSP00000354486:H1911R;ENSP00000349305:H1933R;ENSP00000405842:H1782R	ENSP00000349305:H1933R	H	+	2	0	GOLGA4	37344113	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	0.334000	0.19787	-0.285000	0.09089	0.448000	0.29417	CAT		0.403	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		49	51	0	0	0	1	0	49	51				
MYOM3	127294	broad.mit.edu	37	1	24392470	24392470	+	Missense_Mutation	SNP	T	T	C	rs375842773		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:24392470T>C	ENST00000374434.3	-	29	3607	c.3445A>G	c.(3445-3447)Act>Gct	p.T1149A	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.T1152A|MYOM3_ENST00000338909.5_Missense_Mutation_p.T42A|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.T1151A	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1149	Ig-like C2-type 3.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAAAGCGAGTCTCCTTCTTG	0.517																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3454-3456)Act>Gct		myomesin 3		T	ALA/THR	0,3862		0,0,1931	138.0	136.0	137.0		3445	4.5	1.0	1		137	1,8253		0,1,4126	no	missense	MYOM3	NM_152372.3	58	0,1,6057	CC,CT,TT		0.0121,0.0,0.0083	possibly-damaging	1149/1438	24392470	1,12115	1931	4127	6058	SO:0001583	missense	127294							g.chr1:24392470T>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3445A>G	1.37:g.24392470T>C	ENSP00000363557:p.Thr1149Ala					MYOM3_ENST00000374434.3_Missense_Mutation_p.T1149A|MYOM3_ENST00000338909.5_Missense_Mutation_p.T42A|MYOM3_ENST00000329601.7_Missense_Mutation_p.T1151A|RP11-293P20.2_ENST00000439239.2_RNA	p.T1152A			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	29	3616	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1149			Ig-like C2-type 3.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3454A>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667289	0.67814	0.0	1.21E-4	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442;ENST00000329601	T;T;T;T	0.62232	2.02;2.74;2.74;0.04	5.76	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111004	0.64402	D	0.000011	T	0.76111	0.3942	M	0.78049	2.395	0.30547	N	0.765827	D;P;B	0.55605	0.972;0.865;0.202	P;P;B	0.61800	0.894;0.506;0.205	T	0.77718	-0.2483	10	0.87932	D	0	.	13.2452	0.60020	0.1266:0.0:0.0:0.8734	.	1149;1149;42	Q5VTT5-2;Q5VTT5;Q5VTT5-3	.;MYOM3_HUMAN;.	A	42;1149;1152;42;1151	ENSP00000342689:T42A;ENSP00000363557:T1149A;ENSP00000332670:T1152A;ENSP00000328415:T1151A	ENSP00000328415:T1151A	T	-	1	0	MYOM3	24265057	1.000000	0.71417	0.996000	0.52242	0.511000	0.34104	5.201000	0.65163	2.191000	0.70037	0.533000	0.62120	ACT		0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		5	160	0	0	0	1	0	5	160				
OR10C1	442194	broad.mit.edu	37	6	29408070	29408070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr6:29408070G>A	ENST00000444197.2	+	1	988	c.278G>A	c.(277-279)cGc>cAc	p.R93H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACATCTCTCGCTCTGGATGT	0.587																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(277-279)cGc>cAc		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							111.0	107.0	108.0					6																	29408070		1508	2708	4216	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408070G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.278G>A	6.37:g.29408070G>A	ENSP00000419119:p.Arg93His					OR11A1_ENST00000377149.1_Intron	p.R93H	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	988	+			93					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.278G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884573	0.33255	.	.	ENSG00000206474	ENST00000444197	T	0.00397	7.57	3.32	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33591	U	0.004760	T	0.00109	0.0003	N	0.11927	0.2	0.09310	N	1	D	0.69078	0.997	D	0.66602	0.945	T	0.49380	-0.8946	10	0.87932	D	0	.	2.9417	0.05833	0.3922:0.0:0.413:0.1949	.	93	Q96KK4	O10C1_HUMAN	H	93	ENSP00000419119:R93H	ENSP00000419119:R93H	R	+	2	0	OR10C1	29516049	0.000000	0.05858	0.074000	0.20217	0.554000	0.35429	-0.336000	0.07863	0.234000	0.21139	0.196000	0.17591	CGC		0.587	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			51	65	0	0	0	1	0	51	65				
CLEC9A	283420	broad.mit.edu	37	12	10215755	10215755	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:10215755T>C	ENST00000355819.1	+	7	1034	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	141	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCAAGAGAATTGTTTAAAGGA	0.368																																						ENST00000355819.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						c.(421-423)Tgt>Cgt		C-type lectin domain family 9, member A							119.0	119.0	119.0					12																	10215755		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10215755T>C		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.421T>C	12.37:g.10215755T>C	ENSP00000348074:p.Cys141Arg						p.C141R	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN			7	1034	+			141			C-type lectin.		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.421T>C	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.881611	0.51908	.	.	ENSG00000197992	ENST00000355819	D	0.93547	-3.24	4.52	4.52	0.55395	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.47852	D	0.000210	D	0.97564	0.9202	H	0.96777	3.88	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.97994	1.0356	10	0.87932	D	0	.	10.804	0.46507	0.0:0.0:0.0:1.0	.	141	Q6UXN8	CLC9A_HUMAN	R	141	ENSP00000348074:C141R	ENSP00000348074:C141R	C	+	1	0	CLEC9A	10107022	0.987000	0.35691	0.140000	0.22221	0.032000	0.12392	3.632000	0.54287	1.974000	0.57490	0.482000	0.46254	TGT		0.368	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		10	103	0	0	0	1	0	10	103				
NEB	4703	broad.mit.edu	37	2	152383461	152383461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:152383461C>T	ENST00000172853.10	-	120	16960	c.16813G>A	c.(16813-16815)Gcc>Acc	p.A5605T	NEB_ENST00000409198.1_Missense_Mutation_p.A5605T|NEB_ENST00000604864.1_Missense_Mutation_p.A7306T|NEB_ENST00000427231.2_Missense_Mutation_p.A7306T|NEB_ENST00000603639.1_Missense_Mutation_p.A7306T|NEB_ENST00000397345.3_Missense_Mutation_p.A7306T			P20929	NEBU_HUMAN	nebulin	5605					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCTGAGGGCGAGCACCGTG	0.463																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(21916-21918)Gcc>Acc		nebulin							111.0	115.0	114.0					2																	152383461		1925	4122	6047	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152383461C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16813G>A	2.37:g.152383461C>T	ENSP00000172853:p.Ala5605Thr					NEB_ENST00000409198.1_Missense_Mutation_p.A5605T|NEB_ENST00000172853.10_Missense_Mutation_p.A5605T|NEB_ENST00000603639.1_Missense_Mutation_p.A7306T|NEB_ENST00000427231.2_Missense_Mutation_p.A7306T|NEB_ENST00000604864.1_Missense_Mutation_p.A7306T	p.A7306T	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	148	22118	-			5605					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.21916G>A		.	.	.	.	.	.	.	.	.	.	C	25.0	4.587248	0.86851	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.10477	3.2;3.13;3.11;2.87;3.2	5.98	5.98	0.97165	.	0.098719	0.64402	D	0.000002	T	0.36193	0.0958	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.973;0.992;0.986	T	0.01337	-1.1381	10	0.72032	D	0.01	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	5605;7306;2036	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	T	5605;7306;7306;1654;2036;5605	ENSP00000386259:A5605T;ENSP00000380505:A7306T;ENSP00000416578:A7306T;ENSP00000410961:A2036T;ENSP00000172853:A5605T	ENSP00000172853:A5605T	A	-	1	0	NEB	152091707	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.412000	0.59787	2.838000	0.97847	0.655000	0.94253	GCC		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		6	9	0	0	0	1	0	6	9				
FBXO43	286151	broad.mit.edu	37	8	101146458	101146458	+	Silent	SNP	T	T	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:101146458T>C	ENST00000428847.2	-	4	2125	c.1809A>G	c.(1807-1809)ggA>ggG	p.G603G		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	603					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G569V(2)|p.G569G(2)|p.G603G(1)|p.G603V(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAAAACTTCTCCCCAGGGAG	0.408																																						ENST00000428847.2																			6	Substitution - Missense(3)|Substitution - coding silent(3)	p.G569V(2)|p.G569G(2)|p.G603G(1)|p.G603V(1)	lung(6)	endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1807-1809)ggA>ggG		F-box protein 43							82.0	81.0	81.0					8																	101146458		1845	4089	5934	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101146458T>C	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1809A>G	8.37:g.101146458T>C							p.G603G	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		4	2125	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		603						Silent	SNP	ENST00000428847.2	37	c.1809A>G	CCDS47904.1																																																																																				0.408	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		58	57	0	0	0	1	0	58	57				
INSRR	3645	broad.mit.edu	37	1	156814052	156814052	+	Silent	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:156814052G>A	ENST00000368195.3	-	15	3154	c.2758C>T	c.(2758-2760)Ctg>Ttg	p.L920L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	920					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGACATGCAGCCCCCCAGCA	0.562																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2758-2760)Ctg>Ttg		insulin receptor-related receptor							68.0	66.0	67.0					1																	156814052		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156814052G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2758C>T	1.37:g.156814052G>A						NTRK1_ENST00000392302.2_Intron	p.L920L	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			15	3154	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		920					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.2758C>T	CCDS1160.1																																																																																				0.562	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		4	82	0	0	0	1	0	4	82				
UNC5D	137970	broad.mit.edu	37	8	35583683	35583683	+	Silent	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:35583683C>T	ENST00000404895.2	+	10	1645	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	UNC5D_ENST00000420357.1_Silent_p.L372L|UNC5D_ENST00000449677.1_Silent_p.L15L|UNC5D_ENST00000416672.1_Silent_p.L444L|UNC5D_ENST00000453357.2_Silent_p.L434L|UNC5D_ENST00000287272.2_Silent_p.L370L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	439					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACTCCCTGCTCCTGAATTCTG	0.502																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1108-1110)ctC>ctT		unc-5 homolog D (C. elegans)							63.0	66.0	65.0					8																	35583683		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583683C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1317C>T	8.37:g.35583683C>T						UNC5D_ENST00000420357.1_Silent_p.L372L|UNC5D_ENST00000416672.1_Silent_p.L444L|UNC5D_ENST00000453357.2_Silent_p.L434L|UNC5D_ENST00000404895.2_Silent_p.L439L|UNC5D_ENST00000449677.1_Silent_p.L15L	p.L370L			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1130	+			439					Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.1110C>T	CCDS6093.2																																																																																				0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			8	129	0	0	0	1	0	8	129				
ZNF425	155054	broad.mit.edu	37	7	148809259	148809259	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr7:148809259T>A	ENST00000378061.2	-	3	406	c.274A>T	c.(274-276)Atg>Ttg	p.M92L	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	92					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTATTCTTCATGTTCAACTGT	0.363																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(274-276)Atg>Ttg		zinc finger protein 425							231.0	205.0	214.0					7																	148809259		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148809259T>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.274A>T	7.37:g.148809259T>A	ENSP00000367300:p.Met92Leu					ZNF425_ENST00000484196.1_5'UTR	p.M92L	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	406	-	Melanoma(164;0.15)		92					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.274A>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.713660	0.00706	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.06528	3.29;5.12	3.05	-1.84	0.07809	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48864	-0.8997	9	0.11182	T	0.66	.	6.7595	0.23532	0.3951:0.0:0.0:0.6049	.	92	Q6IV72	ZN425_HUMAN	L	92;114	ENSP00000367300:M92L;ENSP00000420379:M114L	ENSP00000367300:M92L	M	-	1	0	ZNF425	148440192	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	0.100000	0.15231	-0.106000	0.12110	-0.347000	0.07816	ATG		0.363	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		16	177	0	0	0	1	0	16	177				
CCDC60	160777	broad.mit.edu	37	12	119961500	119961500	+	Missense_Mutation	SNP	G	G	A	rs373413433		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:119961500G>A	ENST00000327554.2	+	11	1571	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	369										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCCACAGCCGCACTAATTGT	0.567																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1105-1107)cGc>cAc		coiled-coil domain containing 60		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	84.0	90.0		1106	2.4	0.4	12		90	0,8600		0,0,4300	no	missense	CCDC60	NM_178499.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	369/551	119961500	1,13005	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119961500G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1106G>A	12.37:g.119961500G>A	ENSP00000333374:p.Arg369His					RP11-768F21.1_ENST00000509470.2_lincRNA	p.R369H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	11	1571	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		369						Missense_Mutation	SNP	ENST00000327554.2	37	c.1106G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910498	0.52439	2.27E-4	0.0	ENSG00000183273	ENST00000327554	T	0.24908	1.83	3.3	2.4	0.29515	.	0.672928	0.12900	N	0.429887	T	0.26774	0.0655	M	0.68317	2.08	0.24564	N	0.993951	D	0.54397	0.966	B	0.43445	0.42	T	0.14615	-1.0466	9	.	.	.	-2.595	6.4144	0.21708	0.1358:0.0:0.8642:0.0	.	369	Q8IWA6	CCD60_HUMAN	H	369	ENSP00000333374:R369H	.	R	+	2	0	CCDC60	118445883	0.008000	0.16893	0.372000	0.25991	0.317000	0.28152	0.149000	0.16243	0.957000	0.37930	0.655000	0.94253	CGC		0.567	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		3	65	0	0	0	1	0	3	65				
ARSI	340075	broad.mit.edu	37	5	149676821	149676821	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:149676821A>G	ENST00000328668.7	-	2	2245	c.1666T>C	c.(1666-1668)Ttt>Ctt	p.F556L		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	556					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACGGAAAAAGGATCGAAGC	0.537																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(1666-1668)Ttt>Ctt		arylsulfatase family, member I							122.0	119.0	120.0					5																	149676821		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676821A>G	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1666T>C	5.37:g.149676821A>G	ENSP00000333395:p.Phe556Leu						p.F556L	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2245	-			556					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1666T>C	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.346675	0.24426	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96685	-4.09;-3.2	4.56	4.56	0.56223	.	0.205916	0.41194	D	0.000939	D	0.92811	0.7714	L	0.36672	1.1	0.58432	D	0.999999	B	0.20780	0.048	B	0.16289	0.015	D	0.90191	0.4250	10	0.31617	T	0.26	.	14.0867	0.64962	1.0:0.0:0.0:0.0	.	556	Q5FYB1	ARSI_HUMAN	L	556;413	ENSP00000333395:F556L;ENSP00000426879:F413L	ENSP00000333395:F556L	F	-	1	0	ARSI	149657014	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.218000	0.77991	1.909000	0.55274	0.523000	0.50628	TTT		0.537	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		3	138	0	0	0	1	0	3	138				
OR4A16	81327	broad.mit.edu	37	11	55111136	55111136	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:55111136T>G	ENST00000314721.2	+	1	510	c.460T>G	c.(460-462)Tct>Gct	p.S154A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTTGTGCACTCTGTGGTTCA	0.453																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(460-462)Tct>Gct		olfactory receptor, family 4, subfamily A, member 16							193.0	173.0	180.0					11																	55111136		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111136T>G	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.460T>G	11.37:g.55111136T>G	ENSP00000325128:p.Ser154Ala						p.S154A	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	510	+			154					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.460T>G	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	0.109	-1.141534	0.01728	.	.	ENSG00000181961	ENST00000314721	T	0.38560	1.13	2.69	0.0923	0.14472	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.23766	0.0575	N	0.16266	0.395	0.09310	N	1	B	0.14012	0.009	B	0.30943	0.122	T	0.33523	-0.9865	9	0.22109	T	0.4	.	3.1823	0.06588	0.4:0.0:0.2237:0.3763	.	154	Q8NH70	O4A16_HUMAN	A	154	ENSP00000325128:S154A	ENSP00000325128:S154A	S	+	1	0	OR4A16	54867712	0.000000	0.05858	0.003000	0.11579	0.043000	0.13939	-0.117000	0.10708	-0.103000	0.12175	0.346000	0.21813	TCT		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		10	161	0	0	0	1	0	10	161				
LAMC3	10319	broad.mit.edu	37	9	133942444	133942444	+	Silent	SNP	C	C	T	rs145571152	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:133942444C>T	ENST00000361069.4	+	14	2578	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	815	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTAGCGGGAACGTGGACCCCA	0.647													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		17172	0.0		0.0	False		,,,				2504	0.0					ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2443-2445)aaC>aaT		laminin, gamma 3		C		10,4396	16.8+/-37.8	0,10,2193	66.0	57.0	60.0		2445	-1.5	0.8	9	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	LAMC3	NM_006059.3		0,10,6493	TT,TC,CC		0.0,0.227,0.0769		815/1576	133942444	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133942444C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2445C>T	9.37:g.133942444C>T						LAMC3_ENST00000480883.1_Intron	p.N815N	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	14	2578	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	815			Laminin EGF-like 8.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.2445C>T	CCDS6938.1																																																																																				0.647	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		5	39	0	0	0	1	0	5	39				
CFAP43	80217	broad.mit.edu	37	10	105990414	105990414	+	Missense_Mutation	SNP	G	G	A	rs376788209		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr10:105990414G>A	ENST00000278064.2	-	2	368	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	WDR96_ENST00000369719.1_Missense_Mutation_p.R15W|WDR96_ENST00000369720.1_Missense_Mutation_p.R15W|WDR96_ENST00000357060.3_Missense_Mutation_p.R85W|WDR96_ENST00000428666.1_Missense_Mutation_p.R85W																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTAGCTTCCGGTCAGAAAAA	0.423																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(253-255)Cgg>Tgg		WD repeat domain 96		G	TRP/ARG	0,4406		0,0,2203	122.0	112.0	116.0		253	4.9	1.0	10		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR96	NM_025145.5	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	85/1666	105990414	1,13005	2203	4300	6503	SO:0001583	missense	80217							g.chr10:105990414G>A																												ENST00000278064.2:c.43C>T	10.37:g.105990414G>A	ENSP00000278064:p.Arg15Trp					WDR96_ENST00000369720.1_Missense_Mutation_p.R15W|WDR96_ENST00000278064.2_Missense_Mutation_p.R15W|WDR96_ENST00000428666.1_Missense_Mutation_p.R85W|WDR96_ENST00000369719.1_Missense_Mutation_p.R15W	p.R85W	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			2	368	-			85						Missense_Mutation	SNP	ENST00000278064.2	37	c.253C>T		.	.	.	.	.	.	.	.	.	.	G	25.2	4.614060	0.87359	0.0	1.16E-4	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.32785	N	0.005656	T	0.42607	0.1210	M	0.65975	2.015	0.42578	D	0.993203	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.985;0.999;0.985	T	0.40739	-0.9547	10	0.72032	D	0.01	.	18.1677	0.89733	0.0:0.0:1.0:0.0	.	85;85;85	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	W	85;85;15;15;15	ENSP00000349568:R85W;ENSP00000400289:R85W;ENSP00000278064:R15W;ENSP00000358734:R15W;ENSP00000358733:R15W	ENSP00000278064:R15W	R	-	1	2	WDR96	105980404	1.000000	0.71417	0.956000	0.39512	0.922000	0.55478	3.421000	0.52742	2.289000	0.77006	0.484000	0.47621	CGG		0.423	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			50	59	0	0	0	1	0	50	59				
WDR33	55339	broad.mit.edu	37	2	128477431	128477431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:128477431G>A	ENST00000322313.4	-	16	2326	c.2168C>T	c.(2167-2169)cCt>cTt	p.P723L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	723	Collagen-like.				mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGAGGGCCAGGCGGGCCTTG	0.632																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2167-2169)cCt>cTt		WD repeat domain 33							64.0	76.0	72.0					2																	128477431		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477431G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2168C>T	2.37:g.128477431G>A	ENSP00000325377:p.Pro723Leu						p.P723L	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2326	-	Colorectal(110;0.1)		723			Collagen-like.		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2168C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906772	0.52333	.	.	ENSG00000136709	ENST00000322313	D	0.95554	-3.74	5.37	5.37	0.77165	.	0.075779	0.56097	D	0.000039	D	0.95834	0.8644	M	0.82193	2.58	0.80722	D	1	P	0.42078	0.77	P	0.45449	0.481	D	0.94582	0.7780	10	0.27785	T	0.31	-5.4775	15.0017	0.71476	0.0:0.1421:0.8579:0.0	.	723	Q9C0J8	WDR33_HUMAN	L	723	ENSP00000325377:P723L	ENSP00000325377:P723L	P	-	2	0	WDR33	128193901	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	3.072000	0.50049	2.676000	0.91093	0.585000	0.79938	CCT		0.632	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		5	81	0	0	0	1	0	5	81				
DSG3	1830	broad.mit.edu	37	18	29054105	29054105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr18:29054105C>T	ENST00000257189.4	+	15	2206	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	708					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATACGTATGCCAGAGGCACA	0.438																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2122-2124)gCc>gTc		desmoglein 3							92.0	84.0	87.0					18																	29054105		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054105C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2123C>T	18.37:g.29054105C>T	ENSP00000257189:p.Ala708Val						p.A708V	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2206	+			708					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2123C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542892	0.27563	.	.	ENSG00000134757	ENST00000257189	T	0.59906	0.23	5.68	5.68	0.88126	.	0.000000	0.47093	D	0.000253	T	0.56673	0.2001	M	0.72894	2.215	0.30142	N	0.80382	B	0.29162	0.235	B	0.30401	0.115	T	0.63242	-0.6681	10	0.72032	D	0.01	.	9.9928	0.41881	0.1442:0.6977:0.1581:0.0	.	708	P32926	DSG3_HUMAN	V	708	ENSP00000257189:A708V	ENSP00000257189:A708V	A	+	2	0	DSG3	27308103	0.996000	0.38824	0.510000	0.27712	0.056000	0.15407	1.353000	0.34045	2.677000	0.91161	0.650000	0.86243	GCC		0.438	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		6	126	0	0	0	1	0	6	126				
MEGF8	1954	broad.mit.edu	37	19	42857651	42857651	+	Silent	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42857651G>A	ENST00000251268.6	+	21	3585	c.3585G>A	c.(3583-3585)cgG>cgA	p.R1195R	MEGF8_ENST00000334370.4_Silent_p.R1128R	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1195	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AACGATGCCGGCCCGGCAGCT	0.682																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3382-3384)cgG>cgA		multiple EGF-like-domains 8							10.0	11.0	11.0					19																	42857651		2144	4195	6339	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42857651G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.3585G>A	19.37:g.42857651G>A						MEGF8_ENST00000251268.6_Silent_p.R1195R	p.R1128R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			20	4019	+		Prostate(69;0.00682)	1195					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.3384G>A																																																																																					0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		5	29	0	0	0	1	0	5	29				
MAPK12	6300	broad.mit.edu	37	22	50693717	50693717	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:50693717G>C	ENST00000215659.8	-	11	1248	c.933C>G	c.(931-933)ttC>ttG	p.F311L	MAPK12_ENST00000395780.1_Missense_Mutation_p.F221L|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACTCGAAGTAGGGAT	0.612																																						ENST00000215659.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(931-933)ttC>ttG		mitogen-activated protein kinase 12							123.0	108.0	113.0					22																	50693717		2203	4300	6503	SO:0001583	missense	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50693717G>C	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.933C>G	22.37:g.50693717G>C	ENSP00000215659:p.Phe311Leu					MAPK12_ENST00000395780.1_Missense_Mutation_p.F221L|MAPK12_ENST00000497036.1_5'UTR	p.F311L	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	11	1248	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	311			Protein kinase.		Q14260|Q6IC53|Q99588|Q99672	Missense_Mutation	SNP	ENST00000215659.8	37	c.933C>G	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	g	11.22	1.574033	0.28092	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.42131	0.98;0.98	4.92	-7.98	0.01135	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34777	U	0.003693	T	0.41858	0.1177	L	0.35341	1.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.972;1.0;1.0;1.0	D;P;D;D;D	0.87578	0.998;0.774;0.997;0.998;0.997	T	0.71803	-0.4482	10	0.02654	T	1	-24.8856	18.8581	0.92262	0.8814:0.0:0.1186:0.0	.	130;73;221;311;301	B7Z274;A8K155;B5MDL5;P53778;F6TXG5	.;.;.;MK12_HUMAN;.	L	301;221;311	ENSP00000379126:F221L;ENSP00000215659:F311L	ENSP00000215659:F311L	F	-	3	2	MAPK12	49035844	0.004000	0.15560	0.710000	0.30468	0.435000	0.31806	-0.678000	0.05209	-1.483000	0.01858	-0.987000	0.02553	TTC		0.612	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		60	66	0	0	0	1	0	60	66				
ABRA	137735	broad.mit.edu	37	8	107782084	107782084	+	Missense_Mutation	SNP	G	G	A	rs113926734		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:107782084G>A	ENST00000311955.3	-	1	389	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCTGACCACCGTTTTGGACAC	0.547																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(334-336)aCg>aTg		actin-binding Rho activating protein		G	MET/THR	0,4406		0,0,2203	145.0	134.0	138.0		335	5.2	0.7	8	dbSNP_132	138	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABRA	NM_139166.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	112/382	107782084	1,13005	2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782084G>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.335C>T	8.37:g.107782084G>A	ENSP00000311436:p.Thr112Met						p.T112M	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	389	-			112						Missense_Mutation	SNP	ENST00000311955.3	37	c.335C>T	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763068	0.69763	0.0	1.16E-4	ENSG00000174429	ENST00000311955	D	0.93366	-3.21	6.07	5.18	0.71444	.	0.045225	0.85682	D	0.000000	D	0.96021	0.8704	M	0.66939	2.045	0.51482	D	0.999929	D	0.89917	1.0	D	0.66847	0.947	D	0.96432	0.9320	10	0.87932	D	0	-20.5317	17.2412	0.87013	0.0:0.1258:0.8742:0.0	.	112	Q8N0Z2	ABRA_HUMAN	M	112	ENSP00000311436:T112M	ENSP00000311436:T112M	T	-	2	0	ABRA	107851260	1.000000	0.71417	0.728000	0.30774	0.948000	0.59901	7.582000	0.82546	1.538000	0.49270	0.655000	0.94253	ACG		0.547	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		5	124	0	0	0	1	0	5	124				
ZFC3H1	196441	broad.mit.edu	37	12	72057258	72057258	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:72057258T>C	ENST00000378743.3	-	1	491	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000549407.1_5'Flank|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCCGCCGCTGCTGCTGCTG	0.637											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)Agc>Ggc		zinc finger, C3H1-type containing							52.0	64.0	60.0					12																	72057258		2075	4216	6291	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057258T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133A>G	12.37:g.72057258T>C	ENSP00000368017:p.Ser45Gly		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G	p.S45G	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.133A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	8.666	0.901632	0.17760	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.33216	1.42	4.99	3.84	0.44239	.	0.217636	0.37012	N	0.002291	T	0.14614	0.0353	N	0.14661	0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.08046	-1.0741	10	0.10636	T	0.68	.	7.4373	0.27162	0.0:0.0974:0.0:0.9026	.	45;45;45	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	G	45	ENSP00000368017:S45G	ENSP00000368017:S45G	S	-	1	0	ZFC3H1	70343525	0.460000	0.25776	0.997000	0.53966	0.947000	0.59692	1.015000	0.29963	0.926000	0.37118	0.455000	0.32223	AGC		0.637	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		4	141	0	0	0	1	0	4	141				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	74	0	0	0	1	0	35	74				
DOCK7	85440	broad.mit.edu	37	1	62995074	62995074	+	Silent	SNP	A	A	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:62995074A>G	ENST00000340370.5	-	29	3579	c.3562T>C	c.(3562-3564)Tta>Cta	p.L1188L	DOCK7_ENST00000251157.5_Silent_p.L1219L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1219					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGGAGAGTAAATTGTGTACC	0.408																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(3655-3657)Tta>Cta		dedicator of cytokinesis 7							114.0	105.0	108.0					1																	62995074		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62995074A>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3562T>C	1.37:g.62995074A>G						DOCK7_ENST00000340370.5_Silent_p.L1188L	p.L1219L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			30	3688	-			1219					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.3655T>C	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	9.281	1.048145	0.19827	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.98	3.69	0.42338	.	.	.	.	.	T	0.59514	0.2199	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53746	-0.8395	4	.	.	.	.	9.6634	0.39969	0.7998:0.0:0.2002:0.0	.	.	.	.	S	390	.	.	F	-	2	0	DOCK7	62767662	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	5.291000	0.65667	0.528000	0.28580	0.482000	0.46254	TTT		0.408	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		35	58	0	0	0	1	0	35	58				
PDE6C	5146	broad.mit.edu	37	10	95385365	95385365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr10:95385365G>T	ENST00000371447.3	+	5	1036	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	300	GAF 2.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CAAGCTTGGAGAAGTAGAGCC	0.413																																						ENST00000371447.3																			1	Deletion - In frame(1)	p.V301_E302del(1)	ovary(1)	breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(898-900)Gaa>Taa		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							109.0	96.0	101.0					10																	95385365		2203	4300	6503	SO:0001587	stop_gained	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95385365G>T	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.898G>T	10.37:g.95385365G>T	ENSP00000360502:p.Glu300*						p.E300*	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			5	1036	+		Colorectal(252;0.123)	300			GAF 2.		A6NCR6|Q5VY29	Nonsense_Mutation	SNP	ENST00000371447.3	37	c.898G>T	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	39	7.626320	0.98396	.	.	ENSG00000095464	ENST00000371447	.	.	.	4.69	4.69	0.59074	.	0.097447	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.1618	0.89710	0.0:0.0:1.0:0.0	.	.	.	.	X	300	.	ENSP00000360502:E300X	E	+	1	0	PDE6C	95375355	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.601000	0.98297	2.573000	0.86826	0.655000	0.94253	GAA		0.413	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		6	43	1	0	0.000157383	1	0.000161131	6	43				
FAM117A	81558	broad.mit.edu	37	17	47841412	47841412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:47841412G>A	ENST00000240364.2	-	1	117	c.38C>T	c.(37-39)gCc>gTc	p.A13V	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	13										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						cggcccccaggcacctccgcc	0.816																																						ENST00000240364.2																			0				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						c.(37-39)gCc>gTc		family with sequence similarity 117, member A							3.0	4.0	4.0					17																	47841412		913	2007	2920	SO:0001583	missense	81558							g.chr17:47841412G>A	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.38C>T	17.37:g.47841412G>A	ENSP00000240364:p.Ala13Val					FAM117A_ENST00000513602.1_Intron|FAM117A_ENST00000514018.1_Intron	p.A13V	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN			1	117	-			13					B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	c.38C>T	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640603	0.29157	.	.	ENSG00000121104	ENST00000240364;ENST00000506156	.	.	.	4.04	3.07	0.35406	.	0.741181	0.11604	N	0.547518	T	0.30978	0.0782	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09885	-1.0654	9	0.48119	T	0.1	-0.0039	7.6831	0.28526	0.1168:0.0:0.8832:0.0	.	13	Q9C073	F117A_HUMAN	V	13	.	ENSP00000240364:A13V	A	-	2	0	FAM117A	45196411	1.000000	0.71417	0.993000	0.49108	0.177000	0.22998	1.868000	0.39509	1.039000	0.40074	0.637000	0.83480	GCC		0.816	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		4	6	0	0	0	1	0	4	6				
OR4F5	79501	broad.mit.edu	37	1	69454	69454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:69454delC	ENST00000335137.3	+	1	364	c.364delC	c.(364-366)cccfs	p.P122fs		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AATATGCAAGCCCCTACACTA	0.478																																						ENST00000335137.3																			0				lung(1)|ovary(1)	2						c.(364-366)ccfs		olfactory receptor, family 4, subfamily F, member 5							196.0	124.0	150.0					1																	69454		1980	3588	5568	SO:0001589	frameshift_variant	79501				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:69454delC	AB065592	CCDS30547.1	1p36.33	2012-08-09			ENSG00000186092	ENSG00000186092		"""GPCR / Class A : Olfactory receptors"""	14825	protein-coding gene	gene with protein product							Standard	NM_001005484		Approved		uc001aal.1	Q8NH21	OTTHUMG00000001094	ENST00000335137.3:c.364delC	1.37:g.69454delC	ENSP00000334393:p.Pro122fs						p.P122fs	NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	364	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	122					Q5VT22	Frame_Shift_Del	DEL	ENST00000335137.3	37	c.364delC	CCDS30547.1																																																																																				0.478	OR4F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003223.1	NM_001005484		2	4						2	4	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120491679	120491680	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120491679_120491680delCT	ENST00000256646.2	-	16	2768_2769	c.2549_2550delAG	c.(2548-2550)gagfs	p.E850fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	850	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTTGGTGACTCTTTGCAAAC	0.431			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(2548-2550)gfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120491679_120491680delCT	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2549_2550delAG	1.37:g.120491681_120491682delCT	ENSP00000256646:p.Glu850fs		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1504		p.E850fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2768_2769	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	850			EGF-like 22.		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.2549_2550delAG	CCDS908.1																																																																																				0.431	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		9	201						9	201	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120497724	120497725	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120497724_120497725insT	ENST00000256646.2	-	13	2376_2377	c.2157_2158insA	c.(2155-2160)tcacagfs	p.Q720fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	720	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGTTCACCTGTGAGTAGCAGC	0.535			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(2155-2160)tcaggtfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120497724_120497725insT	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2158dupA	1.37:g.120497725_120497725dupT	ENSP00000256646:p.Gln720fs						p.G720fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	2376_2377	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	720			EGF-like 19.		Q5T3X7|Q99734|Q9H240	Frame_Shift_Ins	INS	ENST00000256646.2	37	c.2157_2158insA	CCDS908.1																																																																																				0.535	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		9	141						9	141	---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47888021	47888023	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:47888021_47888023delATC	ENST00000445061.1	+	11	1866_1868	c.1459_1461delATC	c.(1459-1461)atcdel	p.I488del	DHX30_ENST00000457607.1_In_Frame_Del_p.I516del|DHX30_ENST00000348968.4_In_Frame_Del_p.I460del|DHX30_ENST00000446256.2_In_Frame_Del_p.I449del	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	488	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTGCAATGTTATCATCACCCAAC	0.65																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1342-1344)del		DEAH (Asp-Glu-Ala-His) box helicase 30																																				SO:0001651	inframe_deletion	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888021_47888023delATC	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1459_1461delATC	3.37:g.47888024_47888026delATC	ENSP00000405620:p.Ile488del					DHX30_ENST00000445061.1_In_Frame_Del_p.I488del|DHX30_ENST00000348968.4_In_Frame_Del_p.I460del|DHX30_ENST00000457607.1_In_Frame_Del_p.I516del	p.I449del	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	12	1914_1916	+			488			Helicase ATP-binding.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	In_Frame_Del	DEL	ENST00000445061.1	37	c.1342_1344delATC	CCDS2759.1																																																																																				0.650	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		64	167						64	167	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			11	427						11	427	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114214679	114214681	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:114214679_114214681delCAC	ENST00000357077.4	+	22	2513_2515	c.2460_2462delCAC	c.(2458-2463)gtcacc>gtc	p.T826del	ANK2_ENST00000509550.1_In_Frame_Del_p.T35del|ANK2_ENST00000264366.6_In_Frame_Del_p.T826del|ANK2_ENST00000394537.3_In_Frame_Del_p.T826del|ANK2_ENST00000506722.1_In_Frame_Del_p.T805del	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	826					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAGGAGGTCACCACCACCACC	0.468																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2458-2463)gtc>gt		ankyrin 2, neuronal			,,	9,4257		0,9,2124					,,	5.3	1.0			125	26,8228		0,26,4101	no	coding,coding,coding	ANK2	NM_020977.3,NM_001148.4,NM_001127493.1	,,	0,35,6225	A1A1,A1R,RR		0.315,0.211,0.2796	,,	,,		35,12485				SO:0001651	inframe_deletion	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114214679_114214681delCAC	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2460_2462delCAC	4.37:g.114214688_114214690delCAC	ENSP00000349588:p.Thr826del					ANK2_ENST00000394537.3_In_Frame_Del_p.VT820del|ANK2_ENST00000264366.6_In_Frame_Del_p.VT820del|ANK2_ENST00000509550.1_In_Frame_Del_p.VT29del|ANK2_ENST00000506722.1_In_Frame_Del_p.VT799del	p.VT820del	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	22	2513_2515	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	820					Q01485|Q08AC7|Q08AC8|Q7Z3L5	In_Frame_Del	DEL	ENST00000357077.4	37	c.2460_2462delCAC	CCDS3702.1																																																																																				0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	75						8	75	---	---	---	---
SLC7A11	23657	broad.mit.edu	37	4	139144383	139144386	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:139144383_139144386delTAAT	ENST00000280612.5	-	4	892_895	c.613_616delATTA	c.(613-618)attatafs	p.II205fs		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	205					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	CCAGGGACTATAATTATCAGAATT	0.387																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(613-618)tafs		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)																																			SO:0001589	frameshift_variant	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139144383_139144386delTAAT	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.613_616delATTA	4.37:g.139144383_139144386delTAAT	ENSP00000280612:p.Ile205fs						p.II205fs	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			4	892_895	-	all_hematologic(180;0.166)		205					A8K2U4	Frame_Shift_Del	DEL	ENST00000280612.5	37	c.613_616delATTA	CCDS3742.1																																																																																				0.387	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			7	91						7	91	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162697089	162697089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:162697089delT	ENST00000306100.5	-	5	983	c.547delA	c.(547-549)atgfs	p.M183fs	FSTL5_ENST00000379164.4_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000536695.1_Frame_Shift_Del_p.M182fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	183	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTTAAACATTTGATCCACC	0.284																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(547-549)tgfs		follistatin-like 5							101.0	103.0	102.0					4																	162697089		2203	4295	6498	SO:0001589	frameshift_variant	56884					extracellular region	calcium ion binding	g.chr4:162697089delT	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.547delA	4.37:g.162697089delT	ENSP00000305334:p.Met183fs					FSTL5_ENST00000536695.1_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.M182fs	p.M183fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	983	-	all_hematologic(180;0.24)		183			EF-hand 1.		E9PCP6|Q9NSW7|Q9ULF7	Frame_Shift_Del	DEL	ENST00000306100.5	37	c.547delA	CCDS3802.1																																																																																				0.284	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		47	27						47	27	---	---	---	---
LOC101927460	101927460	broad.mit.edu	37	5	124935566	124935567	+	lincRNA	INS	-	-	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:124935566_124935567insA	ENST00000564199.1	+	0	324																											ggcagaggcagaaaaaaaaatt	0.431																																						ENST00000564199.1																			0																																																			0							g.chr5:124935566_124935567insA																													5.37:g.124935575_124935575dupA														0	324	+									RNA	INS	ENST00000564199.1	37																																																																																						0.431	RP11-756H20.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000372369.2			3	4						3	4	---	---	---	---
LOC101926941	101926941	broad.mit.edu	37	5	141721474	141721474	+	RNA	DEL	G	G	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:141721474delG	ENST00000510311.1	+	0	78				AC005592.2_ENST00000515288.1_RNA																							aggaggaggaggGAGGCAAAG	0.463																																						ENST00000510311.1																			0																																																			0							g.chr5:141721474delG																													5.37:g.141721474delG						AC005592.2_ENST00000515288.1_RNA								0	78	+									RNA	DEL	ENST00000510311.1	37																																																																																						0.463	AC005592.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000370676.1			2	4						2	4	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139393364	139393365	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:139393364_139393365delAT	ENST00000277541.6	-	33	6241_6242	c.6166_6167delAT	c.(6166-6168)atgfs	p.M2056fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2056					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M2057fs*211(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGTTCTGCATATCTTTGTTA	0.609			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		1	Deletion - Frameshift(1)	p.M2057fs*211(1)	oesophagus(1)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6166-6168)gfs		notch 1																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393364_139393365delAT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6166_6167delAT	9.37:g.139393366_139393367delAT	ENSP00000277541:p.Met2056fs	HNSCC(8;0.001)					p.M2056fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	33	6241_6242	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2056					Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.6166_6167delAT	CCDS43905.1																																																																																				0.609	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	313						8	313	---	---	---	---
RNASEH2C	84153	broad.mit.edu	37	11	65487791	65487793	+	In_Frame_Del	DEL	CTT	CTT	-	rs141875736|rs200659526|rs376387465	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:65487791_65487793delCTT	ENST00000308418.4	-	2	456_458	c.268_270delAAG	c.(268-270)aagdel	p.K90del	RNASEH2C_ENST00000528220.1_In_Frame_Del_p.K7del|RNASEH2C_ENST00000527610.1_In_Frame_Del_p.K90del	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	90					RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)				cervix(1)	1						CCATCGACACCTTCTTCTCTTCT	0.621														120	0.0239617	0.003	0.0014	5008	,	,		16846	0.1121		0.0	False		,,,				2504	0.002					ENST00000308418.4																			0				cervix(1)	1						c.(268-270)del		ribonuclease H2, subunit C				43,4221		19,5,2108						2.8	0.4		dbSNP_134	88	58,8196		26,6,4095	no	coding	RNASEH2C	NM_032193.3		45,11,6203	A1A1,A1R,RR		0.7027,1.0084,0.8068				101,12417				SO:0001651	inframe_deletion	84153				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr11:65487791_65487793delCTT	AF312034	CCDS8111.1	11q13.1	2014-09-17							24116	protein-coding gene	gene with protein product	"""Aicardi-Goutieres syndrome 3"""	610330				8244390, 16845400	Standard	NM_032193		Approved	AYP1, AGS3	uc001ofn.3	Q8TDP1		ENST00000308418.4:c.268_270delAAG	11.37:g.65487794_65487796delCTT	ENSP00000308193:p.Lys90del					RNASEH2C_ENST00000528220.1_In_Frame_Del_p.K7del|RNASEH2C_ENST00000527610.1_In_Frame_Del_p.K90del	p.K90del	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN			2	456_458	-			90					Q9H7F5	In_Frame_Del	DEL	ENST00000308418.4	37	c.268_270delAAG	CCDS8111.1																																																																																				0.621	RNASEH2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390693.2	NM_032193		13	147						13	147	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54672374	54672376	+	In_Frame_Del	DEL	AGA	AGA	-	rs143105109		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:54672374_54672376delAGA	ENST00000376591.4	-	4	622_624	c.491_493delTCT	c.(490-495)ttctcc>tcc	p.F164del	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_In_Frame_Del_p.F158del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	164					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCAGCAGGGAGAAGTAGGACTC	0.67											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(490-495)tcc>t		transmembrane channel-like 4																																				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54672374_54672376delAGA	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.491_493delTCT	19.37:g.54672374_54672376delAGA	ENSP00000365776:p.Phe164del		OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1002	TMC4_ENST00000301187.4_In_Frame_Del_p.FS158del|TMC4_ENST00000476013.2_5'UTR	p.FS164del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			4	622_624	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		164					Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.491_493delTCT	CCDS46174.1																																																																																				0.670	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			8	0						8	0	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37591029	37591029	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr20:37591029delC	ENST00000252011.3	+	1	52	c.19delC	c.(19-21)ccgfs	p.P7fs	RP4-616B8.4_ENST00000570096.1_RNA|DHX35_ENST00000373323.4_Frame_Shift_Del_p.P7fs|DHX35_ENST00000373325.2_Frame_Shift_Del_p.P7fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	7					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCCCGTGGGACCGGTGAAGTT	0.721																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(19-21)cgfs		DEAH (Asp-Glu-Ala-His) box polypeptide 35							44.0	37.0	39.0					20																	37591029		2202	4300	6502	SO:0001589	frameshift_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37591029delC	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.19delC	20.37:g.37591029delC	ENSP00000252011:p.Pro7fs					DHX35_ENST00000373323.4_Frame_Shift_Del_p.P7fs|DHX35_ENST00000373325.2_Frame_Shift_Del_p.P7fs	p.P7fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			1	52	+		Myeloproliferative disorder(115;0.00878)	7					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Frame_Shift_Del	DEL	ENST00000252011.3	37	c.19delC	CCDS13310.1																																																																																				0.721	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		16	14						16	14	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938271	76938272	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chrX:76938271_76938272delTT	ENST00000373344.5	-	9	2690_2691	c.2476_2477delAA	c.(2476-2478)aagfs	p.K826fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K788fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	826					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						actcatgctctttatctctttt	0.337			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2476-2478)gfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938271_76938272delTT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2476_2477delAA	X.37:g.76938271_76938272delTT	ENSP00000362441:p.Lys826fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K788fs	p.K826fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2690_2691	-			826					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2476_2477delAA	CCDS14434.1																																																																																				0.337	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		64	14						64	14	---	---	---	---
