#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
RP11-156P1.3	0	broad.mit.edu	37	17	45131761	45131761	+	RNA	SNP	C	C	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:45131761C>G	ENST00000575173.1	-	0	418																											GGACAAGATCCTCAACAGGGA	0.473																																						ENST00000575173.1																			0																																																			0							g.chr17:45131761C>G																													17.37:g.45131761C>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.473	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			49	69	0	0	0	0.870114	0	49	69				
ATRIP	84126	broad.mit.edu	37	3	48506335	48506335	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:48506335C>T	ENST00000320211.3	+	12	2274	c.2161C>T	c.(2161-2163)Cgg>Tgg	p.R721W	TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000436480.2_5'Flank|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_5'Flank|ATRIP_ENST00000346691.4_Missense_Mutation_p.R694W|ATRIP_ENST00000412052.1_Missense_Mutation_p.R628W|ATRIP_ENST00000357105.6_Missense_Mutation_p.R594W	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	721					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGCTGTCTGCGGGACACGGT	0.632								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1882-1884)Cgg>Tgg	Other conserved DNA damage response genes	ATR interacting protein							77.0	66.0	70.0					3																	48506335		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48506335C>T	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2161C>T	3.37:g.48506335C>T	ENSP00000323099:p.Arg721Trp					ATRIP_ENST00000357105.6_Missense_Mutation_p.R594W|ATRIP_ENST00000346691.4_Missense_Mutation_p.R694W|ATRIP_ENST00000320211.3_Missense_Mutation_p.R721W	p.R628W	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	2344	+			721					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1882C>T	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346949	0.82022	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.74209	-0.33;0.7;-0.82;-0.32	5.68	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.73962	2.25	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86836	0.2014	10	0.87932	D	0	-20.7963	13.6641	0.62384	0.1557:0.8443:0.0:0.0	.	694;721	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	W	721;694;594;628	ENSP00000323099:R721W;ENSP00000302338:R694W;ENSP00000349620:R594W;ENSP00000400930:R628W	ENSP00000323099:R721W	R	+	1	2	ATRIP	48481339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.162000	0.31786	1.346000	0.45694	0.655000	0.94253	CGG		0.632	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		4	37	0	0	0	0.150653	0	4	37				
TCERG1	10915	broad.mit.edu	37	5	145838701	145838701	+	Silent	SNP	T	T	C	rs555146294		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr5:145838701T>C	ENST00000296702.5	+	4	731	c.693T>C	c.(691-693)gcT>gcC	p.A231A	TCERG1_ENST00000394421.2_Silent_p.A231A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	231	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.A231A(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggctcaggctcaggcacaag	0.687													T|||	1	0.000199681	0.0	0.0	5008	,	,		12922	0.0		0.0	False		,,,				2504	0.001					ENST00000296702.5																			2	Substitution - coding silent(2)	p.A231A(2)	kidney(1)|endometrium(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(691-693)gcT>gcC		transcription elongation regulator 1							29.0	33.0	32.0					5																	145838701		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838701T>C	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.693T>C	5.37:g.145838701T>C						TCERG1_ENST00000394421.2_Silent_p.A231A	p.A231A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	731	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	231			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.693T>C	CCDS4282.1																																																																																				0.687	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		3	63	0	0	0	0.115264	0	3	63				
NALCN	259232	broad.mit.edu	37	13	101763560	101763560	+	Missense_Mutation	SNP	C	C	T	rs370683741		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr13:101763560C>T	ENST00000251127.6	-	19	2291	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	737					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCAGCATGCGCTGTCGGGT	0.468																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2209-2211)cGc>cAc		sodium leak channel, non-selective		C	HIS/ARG	1,4405		0,1,2202	93.0	89.0	91.0		2210	5.3	1.0	13		91	0,8600		0,0,4300	no	missense	NALCN	NM_052867.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	737/1739	101763560	1,13005	2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101763560C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2210G>A	13.37:g.101763560C>T	ENSP00000251127:p.Arg737His						p.R737H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			19	2291	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		737					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2210G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121143	0.94385	2.27E-4	0.0	ENSG00000102452	ENST00000251127	D	0.98044	-4.68	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.98204	0.9406	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99826	1.1050	10	0.87932	D	0	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	737	Q8IZF0	NALCN_HUMAN	H	737	ENSP00000251127:R737H	ENSP00000251127:R737H	R	-	2	0	NALCN	100561561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.298000	0.78815	2.490000	0.84030	0.585000	0.79938	CGC		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		5	260	0	0	0	0.217242	0	5	260				
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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"""		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(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	CM942135	TP53	M	rs148924904	c.(487-489)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578442		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.chr17:7578442T>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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	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_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C	p.Y163C	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	620	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		129	20	0	0	0	0.870114	0	129	20				
LIMCH1	22998	broad.mit.edu	37	4	41646515	41646515	+	Splice_Site	SNP	A	A	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:41646515A>C	ENST00000313860.7	+	10	1025		c.e10-1		LIMCH1_ENST00000513024.1_Splice_Site|LIMCH1_ENST00000508501.1_Splice_Site|LIMCH1_ENST00000514096.1_Splice_Site|LIMCH1_ENST00000512946.1_Splice_Site|LIMCH1_ENST00000503057.1_Splice_Site|LIMCH1_ENST00000511496.1_Splice_Site|LIMCH1_ENST00000396595.3_Splice_Site|LIMCH1_ENST00000512820.1_Splice_Site|LIMCH1_ENST00000512632.1_Splice_Site|LIMCH1_ENST00000381753.4_Splice_Site|LIMCH1_ENST00000509277.1_Splice_Site	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1						actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTCCACACTCAGGAGCACCAG	0.672											OREG0016169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.e10-1		LIM and calponin homology domains 1							15.0	16.0	15.0					4																	41646515		2184	4270	6454	SO:0001630	splice_region_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41646515A>C	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.972-1A>C	4.37:g.41646515A>C			OREG0016169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	LIMCH1_ENST00000514096.1_Splice_Site|LIMCH1_ENST00000513024.1_Splice_Site|LIMCH1_ENST00000503057.1_Splice_Site|LIMCH1_ENST00000509277.1_Splice_Site|LIMCH1_ENST00000396595.3_Splice_Site|LIMCH1_ENST00000511496.1_Splice_Site|LIMCH1_ENST00000381753.4_Splice_Site|LIMCH1_ENST00000512820.1_Splice_Site|LIMCH1_ENST00000512632.1_Splice_Site|LIMCH1_ENST00000512946.1_Splice_Site|LIMCH1_ENST00000508501.1_Splice_Site		NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			10	1025	+								A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Splice_Site	SNP	ENST00000313860.7	37		CCDS33977.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.068948	0.55539	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000508466	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5306	0.75956	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIMCH1	41341272	1.000000	0.71417	0.998000	0.56505	0.278000	0.26855	8.372000	0.90127	2.135000	0.66039	0.460000	0.39030	.		0.672	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988	Intron	10	9	0	0	0	0.335167	0	10	9				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			4	131	0	0	0	0.248553	0	4	131				
HRNR	388697	broad.mit.edu	37	1	152192510	152192510	+	Missense_Mutation	SNP	C	C	T	rs537328568	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:152192510C>T	ENST00000368801.2	-	3	1670	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	532					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCTGTGTCC	0.567													C|||	3	0.000599042	0.0023	0.0	5008	,	,		22195	0.0		0.0	False		,,,				2504	0.0					ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1594-1596)cGa>cAa		hornerin							181.0	184.0	183.0					1																	152192510		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192510C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1595G>A	1.37:g.152192510C>T	ENSP00000357791:p.Arg532Gln					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R532Q	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1670	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		532					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1595G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	5.220	0.226074	0.09916	.	.	ENSG00000197915	ENST00000368801	T	0.01705	4.68	2.47	-4.93	0.03066	.	.	.	.	.	T	0.00271	0.0008	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43245	-0.9403	9	0.12103	T	0.63	.	5.3679	0.16123	0.0:0.346:0.2653:0.3888	.	532	Q86YZ3	HORN_HUMAN	Q	532	ENSP00000357791:R532Q	ENSP00000357791:R532Q	R	-	2	0	HRNR	150459134	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.740000	0.04861	-2.308000	0.00652	-0.779000	0.03376	CGA		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		45	377	0	0	0	0.840704	0	45	377				
C3P1	388503	broad.mit.edu	37	19	10165979	10165979	+	RNA	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr19:10165979G>A	ENST00000495140.1	+	0	1607							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CACCTCCAAGGGGAACCCAGG	0.592																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13															80.0	87.0	85.0					19																	10165979		2111	4228	6339			0							g.chr19:10165979G>A	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10165979G>A														0	1607	+									RNA	SNP	ENST00000495140.1	37																																																																																						0.592	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		15	109	0	0	0	0.539581	0	15	109				
NLRP12	91662	broad.mit.edu	37	19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr19:54314485C>T	ENST00000324134.6	-	3	596	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_ENST00000391775.3_Missense_Mutation_p.R143H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R143H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R143H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R143H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R143H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R143H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R143H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	143					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(427-429)cGc>cAc		NLR family, pyrin domain containing 12							91.0	88.0	89.0					19																	54314485		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314485C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.428G>A	19.37:g.54314485C>T	ENSP00000319377:p.Arg143His					NLRP12_ENST00000535162.1_Missense_Mutation_p.R143H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R143H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R143H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R143H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R143H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R143H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R143H	p.R143H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	596	-	Ovarian(34;0.19)		143					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.428G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126245	0.56721	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	4.47	2.25	0.28309	.	0.000000	0.39020	N	0.001489	D	0.91955	0.7452	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.926;0.959;0.945	D	0.89399	0.3694	10	0.72032	D	0.01	.	4.834	0.13454	0.0:0.624:0.1789:0.1971	.	143;143;143;143	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	143	ENSP00000319377:R143H;ENSP00000438030:R143H;ENSP00000340473:R143H;ENSP00000346231:R143H;ENSP00000375655:R143H;ENSP00000375653:R143H;ENSP00000375652:R143H	ENSP00000319377:R143H	R	-	2	0	NLRP12	59006297	0.000000	0.05858	0.996000	0.52242	0.962000	0.63368	0.533000	0.23082	0.427000	0.26145	0.306000	0.20318	CGC		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		4	159	0	0	0	0.184627	0	4	159				
CTTN	2017	broad.mit.edu	37	11	70261803	70261803	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:70261803A>G	ENST00000301843.8	+	7	643	c.437A>G	c.(436-438)gAg>gGg	p.E146G	CTTN_ENST00000346329.3_Missense_Mutation_p.E146G|CTTN_ENST00000376561.3_Missense_Mutation_p.E146G	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	146					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGAAGACTGAGAAGCATGCC	0.532																																						ENST00000301843.8																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(436-438)gAg>gGg		cortactin							156.0	169.0	165.0					11																	70261803		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70261803A>G	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.437A>G	11.37:g.70261803A>G	ENSP00000301843:p.Glu146Gly					CTTN_ENST00000376561.3_Missense_Mutation_p.E146G|CTTN_ENST00000346329.3_Missense_Mutation_p.E146G	p.E146G	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	7	643	+			146					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.437A>G	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.1|26.1	4.702034|4.702034	0.88924|0.88924	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561|ENST00000415461	T;T;T|.	0.36878|.	1.32;1.28;1.23|.	5.28|5.28	4.15|4.15	0.48705|0.48705	.|.	0.105137|.	0.64402|.	D|.	0.000006|.	T|T	0.77778|0.77778	0.4181|0.4181	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	1.0;0.999;0.947|.	D;D;P|.	0.91635|.	0.999;0.992;0.817|.	T|T	0.79694|0.79694	-0.1696|-0.1696	10|5	0.66056|.	D|.	0.02|.	-53.3361|-53.3361	11.2715|11.2715	0.49142|0.49142	0.9281:0.0:0.0719:0.0|0.9281:0.0:0.0719:0.0	.|.	146;146;146|.	Q96H99;Q14247;Q8N707|.	.;SRC8_HUMAN;.|.	G|G	146|128	ENSP00000317189:E146G;ENSP00000301843:E146G;ENSP00000365745:E146G|.	ENSP00000301843:E146G|.	E|R	+|+	2|1	0|2	CTTN|CTTN	69939451|69939451	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.911000|0.911000	0.54048|0.54048	8.364000|8.364000	0.90105|0.90105	0.962000|0.962000	0.38057|0.38057	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.532	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		197	325	0	0	0	0.870114	0	197	325				
MAP7D3	79649	broad.mit.edu	37	X	135323365	135323365	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:135323365T>A	ENST00000316077.9	-	5	709	c.489A>T	c.(487-489)agA>agT	p.R163S	MAP7D3_ENST00000370661.1_Missense_Mutation_p.R163S|MAP7D3_ENST00000370663.5_Missense_Mutation_p.R145S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	163					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCCATGACCATCTTTTTTGCT	0.323																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(487-489)agA>agT		MAP7 domain containing 3							63.0	58.0	59.0					X																	135323365		1848	4104	5952	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135323365T>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.489A>T	X.37:g.135323365T>A	ENSP00000318086:p.Arg163Ser					MAP7D3_ENST00000370663.5_Missense_Mutation_p.R145S|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R163S	p.R163S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			5	709	-	Acute lymphoblastic leukemia(192;0.000127)		163					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.489A>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.683890	0.47991	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.15	-2.58	0.06228	.	.	.	.	.	T	0.31451	0.0797	M	0.69823	2.125	0.33080	D	0.53654	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.38222	-0.9671	9	0.72032	D	0.01	-35.4195	11.0289	0.47761	0.0:0.5115:0.0:0.4885	.	145;163;163;163	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	S	163;163;145;163	ENSP00000359695:R163S;ENSP00000318086:R163S;ENSP00000359697:R145S;ENSP00000359694:R163S	ENSP00000318086:R163S	R	-	3	2	MAP7D3	135151031	0.979000	0.34478	0.402000	0.26371	0.180000	0.23129	-0.147000	0.10234	-0.703000	0.05049	-0.453000	0.05500	AGA		0.323	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			84	118	0	0	0	0.870114	0	84	118				
FTO	79068	broad.mit.edu	37	16	53907734	53907734	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:53907734C>T	ENST00000471389.1	+	5	1154	c.932C>T	c.(931-933)gCc>gTc	p.A311V	FTO_ENST00000394647.3_Missense_Mutation_p.A15V	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	311	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGTGTTTTGGCCGGTTCACAA	0.383																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(931-933)gCc>gTc		fat mass and obesity associated							125.0	117.0	120.0					16																	53907734		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53907734C>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.932C>T	16.37:g.53907734C>T	ENSP00000418823:p.Ala311Val					FTO_ENST00000394647.3_Missense_Mutation_p.A15V	p.A311V	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			5	1154	+			311			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.932C>T	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673805	0.88445	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	T;T	0.80214	-1.35;-1.35	5.24	5.24	0.73138	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.112131	0.64402	D	0.000009	D	0.88232	0.6381	M	0.65498	2.005	0.54753	D	0.999987	D	0.71674	0.998	D	0.69824	0.966	D	0.88770	0.3263	10	0.66056	D	0.02	-10.2385	16.3754	0.83383	0.0:1.0:0.0:0.0	.	311	Q9C0B1	FTO_HUMAN	V	311;15	ENSP00000418823:A311V;ENSP00000378142:A15V	ENSP00000378142:A15V	A	+	2	0	FTO	52465235	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.050000	0.64251	2.729000	0.93468	0.563000	0.77884	GCC		0.383	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		4	225	0	0	0	0.150653	0	4	225				
DDI2	84301	broad.mit.edu	37	1	15956989	15956989	+	Silent	SNP	G	G	A	rs200999837		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:15956989G>A	ENST00000480945.1	+	3	609	c.438G>A	c.(436-438)ccG>ccA	p.P146P		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	146							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGCCAACCCGCATGAGCTGT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19715	0.0		0.0	False		,,,				2504	0.001					ENST00000480945.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17						c.(436-438)ccG>ccA		DNA-damage inducible 1 homolog 2 (S. cerevisiae)							101.0	93.0	96.0					1																	15956989		2203	4300	6503	SO:0001819	synonymous_variant	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15956989G>A		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.438G>A	1.37:g.15956989G>A							p.P146P	NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	609	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	146					A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	ENST00000480945.1	37	c.438G>A	CCDS30607.1																																																																																				0.517	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		4	219	0	0	0	0.150653	0	4	219				
PXDC1	221749	broad.mit.edu	37	6	3738299	3738299	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:3738299G>A	ENST00000380283.4	-	2	834	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	114	PX.						phosphatidylinositol binding (GO:0035091)										ACTTTACAGGGCATGCTTATG	0.572																																						ENST00000380283.4																			0											c.(340-342)Ccc>Tcc		PX domain containing 1							227.0	199.0	208.0					6																	3738299		2203	4300	6503	SO:0001583	missense	221749				cell communication		phosphatidylinositol binding	g.chr6:3738299G>A	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.340C>T	6.37:g.3738299G>A	ENSP00000369636:p.Pro114Ser					PXDC1_ENST00000477592.2_5'UTR	p.P114S	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN			2	834	-			114			PX.		A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	c.340C>T	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758946	0.49468	.	.	ENSG00000168994	ENST00000380283	T	0.73258	-0.73	5.14	4.28	0.50868	Phox homologous domain (3);	0.097978	0.64402	N	0.000001	T	0.67287	0.2877	M	0.69823	2.125	0.80722	D	1	P	0.42296	0.775	P	0.47786	0.557	T	0.72561	-0.4256	10	0.66056	D	0.02	-21.1185	12.8492	0.57848	0.0805:0.0:0.9195:0.0	.	114	Q5TGL8	CF145_HUMAN	S	114	ENSP00000369636:P114S	ENSP00000369636:P114S	P	-	1	0	C6orf145	3683298	1.000000	0.71417	0.992000	0.48379	0.056000	0.15407	8.324000	0.90005	1.189000	0.43028	-0.226000	0.12346	CCC		0.572	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		5	349	0	0	0	0.217242	0	5	349				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	62	0	0	0	0.150653	0	4	62				
IDH3B	3420	broad.mit.edu	37	20	2640677	2640677	+	Splice_Site	SNP	G	G	A	rs374735773		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr20:2640677G>A	ENST00000380843.4	-	9	944	c.914C>T	c.(913-915)aCg>aTg	p.T305M	IDH3B_ENST00000380851.5_Splice_Site_p.T305M|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	305					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						CAGCCTCACCGTCTCAAAGAC	0.537																																						ENST00000380843.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						c.e9+1		isocitrate dehydrogenase 3 (NAD+) beta	NADH(DB00157)	G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	195.0	177.0	183.0		914,914,458	1.6	1.0	20		183	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice	IDH3B	NM_006899.2,NM_174855.1,NM_174856.1	81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	305/386,305/384,153/234	2640677	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2640677G>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.915+1C>T	20.37:g.2640677G>A						IDH3B_ENST00000380851.5_Splice_Site_p.T305_splice|IDH3B_ENST00000488299.1_5'UTR	p.T305_splice	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN			9	944	-			305					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Splice_Site	SNP	ENST00000380843.4	37	c.915_splice	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703516	0.30232	2.27E-4	0.0	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000435594	T;T	0.44083	0.94;0.93	4.9	1.63	0.23807	Isopropylmalate dehydrogenase-like domain (2);	0.251553	0.45867	N	0.000337	T	0.28699	0.0711	L	0.31926	0.97	0.80722	D	1	B;B;B	0.18310	0.027;0.011;0.014	B;B;B	0.19946	0.026;0.016;0.027	T	0.05484	-1.0882	10	0.44086	T	0.13	-5.1266	7.6173	0.28165	0.3225:0.0:0.6775:0.0	.	153;305;305	O43837-3;O43837-2;O43837	.;.;IDH3B_HUMAN	M	305;305;153	ENSP00000370232:T305M;ENSP00000370223:T305M	ENSP00000370223:T305M	T	-	2	0	IDH3B	2588677	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.195000	0.42677	0.170000	0.19704	-0.253000	0.11424	ACG		0.537	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1		Missense_Mutation	8	327	0	0	0	0.335167	0	8	327				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977409	29977409	+	RNA	SNP	T	T	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:29977409T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGCAAAGGCATCTGAATGTGT	0.512																																						ENST00000376797.3																			0																																																			0							g.chr6:29977409T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977409T>C						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.512	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	59	0	0	0	0.335167	0	3	59				
RGAG1	57529	broad.mit.edu	37	X	109695813	109695813	+	Silent	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:109695813G>A	ENST00000465301.2	+	3	2214	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	RGAG1_ENST00000540313.1_Silent_p.P656P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	656										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCCATGCCGCAAATGACAG	0.502																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1966-1968)ccG>ccA		retrotransposon gag domain containing 1							106.0	87.0	93.0					X																	109695813		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109695813G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1968G>A	X.37:g.109695813G>A						RGAG1_ENST00000540313.1_Silent_p.P656P	p.P656P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2214	+			656					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.1968G>A	CCDS14552.1																																																																																				0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		4	166	0	0	0	0.150653	0	4	166				
PEAR1	375033	broad.mit.edu	37	1	156880104	156880104	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:156880104G>A	ENST00000338302.3	+	15	1982	c.1757G>A	c.(1756-1758)gGc>gAc	p.G586D	PEAR1_ENST00000292357.7_Missense_Mutation_p.G586D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	586	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGAATGGGGGCACCTGTCTC	0.632											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1756-1758)gGc>gAc		platelet endothelial aggregation receptor 1							141.0	149.0	146.0					1																	156880104		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156880104G>A	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1757G>A	1.37:g.156880104G>A	ENSP00000344465:p.Gly586Asp		OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	PEAR1_ENST00000292357.7_Missense_Mutation_p.G586D	p.G586D			Q5VY43	PEAR1_HUMAN			15	1982	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		586			EGF-like 7.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.1757G>A	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517795	0.64634	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.72282	-0.64;-0.64	4.8	4.8	0.61643	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.50627	D	0.000114	T	0.67748	0.2926	M	0.92507	3.315	0.38861	D	0.956481	B	0.30511	0.282	B	0.23574	0.047	T	0.76181	-0.3053	10	0.62326	D	0.03	.	13.211	0.59825	0.0:0.0:1.0:0.0	.	586	Q5VY43	PEAR1_HUMAN	D	586	ENSP00000344465:G586D;ENSP00000292357:G586D	ENSP00000292357:G586D	G	+	2	0	PEAR1	155146728	0.948000	0.32251	1.000000	0.80357	0.978000	0.69477	1.259000	0.32956	2.481000	0.83766	0.655000	0.94253	GGC		0.632	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		15	427	0	0	0	0.479597	0	15	427				
NEDD1	121441	broad.mit.edu	37	12	97331097	97331097	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:97331097C>T	ENST00000266742.4	+	9	1382	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	NEDD1_ENST00000557644.1_Missense_Mutation_p.S355F|NEDD1_ENST00000411739.2_Missense_Mutation_p.S259F|NEDD1_ENST00000457368.2_Missense_Mutation_p.S259F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S348F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	348					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CCTGCCACGTCCATTGCCACA	0.428																																						ENST00000266742.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(1042-1044)tCc>tTc		neural precursor cell expressed, developmentally down-regulated 1							163.0	139.0	147.0					12																	97331097		2203	4300	6503	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97331097C>T		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1043C>T	12.37:g.97331097C>T	ENSP00000266742:p.Ser348Phe					NEDD1_ENST00000411739.2_Missense_Mutation_p.S259F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S348F|NEDD1_ENST00000557644.1_Missense_Mutation_p.S355F|NEDD1_ENST00000457368.2_Missense_Mutation_p.S259F	p.S348F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN			9	1382	+			348					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.1043C>T	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167328	0.38315	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.50548	0.74;0.74;1.52;0.74;1.52	5.65	5.65	0.86999	.	0.456167	0.25094	N	0.033192	T	0.37100	0.0991	L	0.27053	0.805	0.09310	N	0.999998	P;P	0.42203	0.773;0.468	B;B	0.41764	0.366;0.201	T	0.36065	-0.9763	10	0.49607	T	0.09	.	10.6976	0.45907	0.0:0.9132:0.0:0.0868	.	355;348	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	F	348;348;259;355;259	ENSP00000266742:S348F;ENSP00000404978:S348F;ENSP00000411307:S259F;ENSP00000451211:S355F;ENSP00000407964:S259F	ENSP00000266742:S348F	S	+	2	0	NEDD1	95855228	0.007000	0.16637	0.034000	0.17996	0.004000	0.04260	2.317000	0.43770	2.656000	0.90262	0.591000	0.81541	TCC		0.428	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			6	266	0	0	0	0.248553	0	6	266				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74833604	74833604	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:74833604T>C	ENST00000370899.3	+	15	1617	c.1580T>C	c.(1579-1581)gTg>gCg	p.V527A	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.V540A|TNNI3K_ENST00000370891.2_Missense_Mutation_p.V527A|TNNI3K_ENST00000326637.3_Missense_Mutation_p.V426A|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.V527A	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GGCTCCTATGTGTCTGTTCCA	0.313																																						ENST00000370895.1																			0											c.(1579-1581)gTg>gCg									64.0	67.0	66.0					1																	74833604		2203	4297	6500	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74833604T>C			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1580T>C	1.37:g.74833604T>C	ENSP00000359936:p.Val527Ala					FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.V527A|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.V527A|TNNI3K_ENST00000370891.2_Missense_Mutation_p.V527A|TNNI3K_ENST00000326637.3_Missense_Mutation_p.V426A	p.V527A			Q59H18	TNI3K_HUMAN			15	1615	+			426			Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.1580T>C		.	.	.	.	.	.	.	.	.	.	T	24.3	4.520221	0.85495	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.74632	-0.85;-0.57;-0.86;-0.86;-0.84	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	N	0.19112	0.55	0.58432	D	0.999992	P;P;P;P	0.51147	0.817;0.942;0.885;0.865	B;P;P;P	0.50659	0.297;0.647;0.492;0.554	T	0.59182	-0.7502	10	0.06365	T	0.9	.	15.3633	0.74499	0.0:0.0:0.0:1.0	.	426;527;527;527	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	A	527;527;148;527;527;426	ENSP00000359936:V527A;ENSP00000359932:V527A;ENSP00000450895:V527A;ENSP00000359928:V527A;ENSP00000322251:V426A	ENSP00000322251:V426A	V	+	2	0	RP11-653A5.2;AC093158.1	74606192	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.260000	0.78391	2.033000	0.60031	0.528000	0.53228	GTG		0.313	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			7	301	0	0	0	0.248553	0	7	301				
NEK8	284086	broad.mit.edu	37	17	27065006	27065006	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:27065006C>T	ENST00000268766.6	+	7	1093	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	353					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTGGGCGTCTCATCCTGTGGG	0.701																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1057-1059)ctC>ctT		NIMA-related kinase 8							23.0	27.0	26.0					17																	27065006		2200	4297	6497	SO:0001819	synonymous_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27065006C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1059C>T	17.37:g.27065006C>T						AC010761.6_ENST00000584779.1_RNA	p.L353L	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			7	1093	+	Lung NSC(42;0.0158)		353					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	c.1059C>T	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277432	0.23307	.	.	ENSG00000160602	ENST00000543014	T	0.70516	-0.49	5.58	1.41	0.22369	.	.	.	.	.	T	0.70544	0.3236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66324	-0.5952	6	0.66056	D	0.02	.	4.8044	0.13312	0.1376:0.5685:0.0:0.2938	.	.	.	.	Y	407	ENSP00000465859:H407Y	ENSP00000446066:H407Y	H	+	1	0	NEK8	24089133	0.995000	0.38212	0.998000	0.56505	0.980000	0.70556	0.422000	0.21296	0.063000	0.16370	-0.136000	0.14681	CAT		0.701	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			40	55	0	0	0	0.840704	0	40	55				
WDR49	151790	broad.mit.edu	37	3	167223186	167223186	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:167223186A>T	ENST00000308378.3	-	13	2042	c.1737T>A	c.(1735-1737)gaT>gaA	p.D579E	WDR49_ENST00000453925.2_Missense_Mutation_p.D544E|WDR49_ENST00000476376.1_Missense_Mutation_p.D404E|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	579										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTAAATTTATATCTTCTGATG	0.303																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1735-1737)gaT>gaA		WD repeat domain 49							29.0	32.0	31.0					3																	167223186		2174	4260	6434	SO:0001583	missense	151790							g.chr3:167223186A>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1737T>A	3.37:g.167223186A>T	ENSP00000311343:p.Asp579Glu					WDR49_ENST00000476376.1_Missense_Mutation_p.D404E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.D544E	p.D579E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			13	2042	-			579					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1737T>A	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.276|1.276	-0.611723|-0.611723	0.03690|0.03690	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.48836|.	0.8;2.09;1.08|.	5.0|5.0	-1.39|-1.39	0.08997|0.08997	.|.	0.388152|.	0.25732|.	N|.	0.028672|.	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.24764|0.24764	-1.0151|-1.0151	10|5	0.44086|.	T|.	0.13|.	.|.	3.3191|3.3191	0.07044|0.07044	0.4835:0.0:0.1785:0.338|0.4835:0.0:0.1785:0.338	.|.	544;579|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	E|K	579;404;544|556	ENSP00000311343:D579E;ENSP00000420508:D404E;ENSP00000410863:D544E|.	ENSP00000311343:D579E|.	D|I	-|-	3|2	2|0	WDR49|WDR49	168705880|168705880	0.867000|0.867000	0.29959|0.29959	0.206000|0.206000	0.23566|0.23566	0.596000|0.596000	0.36781|0.36781	-0.000000|-0.000000	0.12993|0.12993	-0.411000|-0.411000	0.07530|0.07530	-1.100000|-1.100000	0.02121|0.02121	GAT|ATA		0.303	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		3	99	0	0	0	0.115264	0	3	99				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	57	0	0	0	0.150653	0	3	57				
IFT122	55764	broad.mit.edu	37	3	129214370	129214370	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:129214370G>A	ENST00000348417.2	+	18	2205	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.A586T|IFT122_ENST00000347300.2_Missense_Mutation_p.A651T|IFT122_ENST00000296266.3_Missense_Mutation_p.A761T|IFT122_ENST00000431818.2_Missense_Mutation_p.A560T|IFT122_ENST00000349441.2_Missense_Mutation_p.A599T|IFT122_ENST00000507564.1_Missense_Mutation_p.A702T|IFT122_ENST00000440957.2_Missense_Mutation_p.A501T	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	710					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGGCCGCCAAACTGTA	0.512																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2281-2283)Gcc>Acc		intraflagellar transport 122 homolog (Chlamydomonas)							108.0	94.0	99.0					3																	129214370		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129214370G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2128G>A	3.37:g.129214370G>A	ENSP00000324005:p.Ala710Thr					IFT122_ENST00000348417.2_Missense_Mutation_p.A710T|IFT122_ENST00000431818.2_Missense_Mutation_p.A560T|IFT122_ENST00000347300.2_Missense_Mutation_p.A651T|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.A702T|IFT122_ENST00000349441.2_Missense_Mutation_p.A599T|IFT122_ENST00000504021.1_Missense_Mutation_p.A586T|IFT122_ENST00000440957.2_Missense_Mutation_p.A501T	p.A761T	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			19	2473	+			710					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2281G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	35	5.463880	0.96257	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	D;D;D;D;T;D;D;D;T	0.82344	-1.6;-1.6;-1.6;-1.6;0.62;-1.6;-1.6;-1.6;0.67	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	M	0.91768	3.24	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.83275	0.996;0.986;0.995;0.979;0.985;0.979;0.991;0.99;0.996	D	0.94406	0.7627	10	0.87932	D	0	-22.0944	19.2895	0.94093	0.0:0.0:1.0:0.0	.	501;702;97;586;550;599;651;710;761	E9PDG2;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;IF122_HUMAN;.	T	651;761;702;651;560;586;599;710;550;501;207;72	ENSP00000323973:A651T;ENSP00000296266:A761T;ENSP00000425536:A702T;ENSP00000410946:A560T;ENSP00000422179:A586T;ENSP00000324165:A599T;ENSP00000324005:A710T;ENSP00000401569:A501T;ENSP00000424727:A207T	ENSP00000296266:A761T	A	+	1	0	IFT122	130697060	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	9.452000	0.97615	2.607000	0.88179	0.655000	0.94253	GCC		0.512	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		4	125	0	0	0	0.150653	0	4	125				
ABTB2	25841	broad.mit.edu	37	11	34176285	34176285	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:34176285G>A	ENST00000435224.2	-	15	3153	c.2729C>T	c.(2728-2730)aCa>aTa	p.T910I	ABTB2_ENST00000298992.2_Missense_Mutation_p.T724I	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	910	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CATGGATTCTGTTCCTCCGTA	0.592																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2728-2730)aCa>aTa		ankyrin repeat and BTB (POZ) domain containing 2							184.0	160.0	168.0					11																	34176285		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34176285G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2729C>T	11.37:g.34176285G>A	ENSP00000410157:p.Thr910Ile					ABTB2_ENST00000298992.2_Missense_Mutation_p.T724I	p.T910I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			15	3153	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	724					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2729C>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614014	0.66672	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.65916	-0.18;-0.18	4.79	4.79	0.61399	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.48174	1.505	0.80722	D	1	D	0.64830	0.994	D	0.66497	0.944	T	0.72301	-0.4334	10	0.40728	T	0.16	-19.7166	18.1968	0.89825	0.0:0.0:1.0:0.0	.	724	Q8N961	ABTB2_HUMAN	I	910;724	ENSP00000410157:T910I;ENSP00000298992:T724I	ENSP00000298992:T724I	T	-	2	0	ABTB2	34132861	1.000000	0.71417	0.083000	0.20561	0.614000	0.37383	8.009000	0.88606	2.365000	0.80145	0.462000	0.41574	ACA		0.592	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		91	117	0	0	0	0.870114	0	91	117				
CPXM2	119587	broad.mit.edu	37	10	125526579	125526579	+	Silent	SNP	G	G	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:125526579G>C	ENST00000241305.3	-	10	1543	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	463					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTGCCTCCCAGAGCAGCGTGT	0.522																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1387-1389)ctC>ctG		carboxypeptidase X (M14 family), member 2							136.0	126.0	129.0					10																	125526579		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125526579G>C	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1389C>G	10.37:g.125526579G>C						CPXM2_ENST00000368854.3_5'UTR	p.L463L	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	10	1543	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	463					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1389C>G	CCDS7637.1																																																																																				0.522	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		3	238	0	0	0	0.115264	0	3	238				
RP11-156P1.3	0	broad.mit.edu	37	17	45131760	45131760	+	RNA	SNP	C	C	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:45131760C>A	ENST00000575173.1	-	0	418																											AGGACAAGATCCTCAACAGGG	0.473																																						ENST00000575173.1																			0																																																			0							g.chr17:45131760C>A																													17.37:g.45131760C>A														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.473	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			49	69	1	0	8.52529e-16	0.870114	9.96618e-16	49	69				
ANKZF1	55139	broad.mit.edu	37	2	220101063	220101063	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:220101063G>A	ENST00000323348.5	+	14	2251	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A483T|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A693T	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	693						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTTGTGGGGCATCCCTCCA	0.577																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(2077-2079)Gca>Aca		ankyrin repeat and zinc finger domain containing 1							108.0	115.0	113.0					2																	220101063		2066	4201	6267	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220101063G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.2077G>A	2.37:g.220101063G>A	ENSP00000321617:p.Ala693Thr					ANKZF1_ENST00000410034.3_Missense_Mutation_p.A693T|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A483T	p.A693T	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2251	+		Renal(207;0.0474)	693					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.2077G>A	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896927	0.33535	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.94576	-3.46;-3.46;-3.46	5.38	2.09	0.27110	.	0.352416	0.31519	N	0.007505	D	0.82462	0.5042	N	0.03608	-0.345	0.23341	N	0.997871	B	0.06786	0.001	B	0.06405	0.002	T	0.68842	-0.5302	10	0.15066	T	0.55	0.0036	8.1162	0.30944	0.2888:0.0:0.7112:0.0	.	693	Q9H8Y5	ANKZ1_HUMAN	T	693;483;693	ENSP00000321617:A693T;ENSP00000386815:A483T;ENSP00000386337:A693T	ENSP00000321617:A693T	A	+	1	0	ANKZF1	219809307	1.000000	0.71417	0.966000	0.40874	1.000000	0.99986	3.232000	0.51302	0.201000	0.20466	0.655000	0.94253	GCA		0.577	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		5	222	0	0	0	0.217242	0	5	222				
GPR128	84873	broad.mit.edu	37	3	100352130	100352130	+	Missense_Mutation	SNP	G	G	A	rs143646459		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:100352130G>A	ENST00000273352.3	+	4	624	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	GPR128_ENST00000475887.1_5'Flank	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	119					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGGCAGTCCGGTTGTGCAGT	0.313																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(355-357)cGg>cAg		G protein-coupled receptor 128		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	40.0	43.0	42.0		356	4.8	0.0	3	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR128	NM_032787.2	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	119/798	100352130	2,13004	2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100352130G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.356G>A	3.37:g.100352130G>A	ENSP00000273352:p.Arg119Gln						p.R119Q	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			4	624	+			119					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.356G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141528	0.77775	2.27E-4	1.16E-4	ENSG00000144820	ENST00000273352	T	0.54479	0.57	5.67	4.77	0.60923	.	0.270585	0.26013	N	0.026869	T	0.69205	0.3085	M	0.73598	2.24	0.25499	N	0.987579	D	0.89917	1.0	D	0.69307	0.963	T	0.62941	-0.6747	10	0.44086	T	0.13	.	12.2829	0.54774	0.0:0.1708:0.8292:0.0	.	119	Q96K78	GP128_HUMAN	Q	119	ENSP00000273352:R119Q	ENSP00000273352:R119Q	R	+	2	0	GPR128	101834820	0.035000	0.19736	0.005000	0.12908	0.288000	0.27193	2.720000	0.47252	1.316000	0.45131	0.650000	0.86243	CGG		0.313	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	95	0	0	0	0.150653	0	4	95				
RET	5979	broad.mit.edu	37	10	43609023	43609023	+	Silent	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:43609023A>G	ENST00000355710.3	+	10	2011	c.1779A>G	c.(1777-1779)ggA>ggG	p.G593G	RET_ENST00000340058.5_Silent_p.G593G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	593			G -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G592_G607del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGTTGGGGGACACGAGCCTG	0.642		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	1	Deletion - In frame(1)	p.G592_G607del(1)	thyroid(1)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1777-1779)ggA>ggG		ret proto-oncogene	Sunitinib(DB01268)						22.0	24.0	23.0					10																	43609023		2201	4299	6500	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43609023A>G	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1779A>G	10.37:g.43609023A>G						RET_ENST00000340058.5_Silent_p.G593G	p.G593G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			10	2011	+		Ovarian(717;0.0423)	593		G -> E (in a colorectal cancer sample; somatic mutation).			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1779A>G	CCDS7200.1																																																																																				0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		7	18	0	0	0	0.278610	0	7	18				
DAW1	164781	broad.mit.edu	37	2	228750104	228750104	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:228750104G>C	ENST00000309931.2	+	2	161	c.78G>C	c.(76-78)aaG>aaC	p.K26N	SNORA25_ENST00000607153.1_RNA|DAW1_ENST00000373666.2_Missense_Mutation_p.K26N|DAW1_ENST00000545118.1_Missense_Mutation_p.K11N	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	26						cilium (GO:0005929)											GAGAATTAAAGACTAAGTCCA	0.343																																						ENST00000373666.2																			0											c.(76-78)aaG>aaC		dynein assembly factor with WDR repeat domains 1							111.0	117.0	115.0					2																	228750104		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228750104G>C		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.78G>C	2.37:g.228750104G>C	ENSP00000311899:p.Lys26Asn					DAW1_ENST00000545118.1_Missense_Mutation_p.K11N|DAW1_ENST00000309931.2_Missense_Mutation_p.K26N	p.K26N							2	714	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.78G>C	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014024	0.54468	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	T;T;T;T	0.55052	0.63;0.56;0.71;0.54	5.52	5.52	0.82312	.	0.105334	0.64402	D	0.000006	T	0.53465	0.1798	L	0.56769	1.78	0.50632	D	0.999883	P	0.47253	0.892	P	0.46299	0.511	T	0.57717	-0.7763	10	0.62326	D	0.03	.	10.3802	0.44108	0.0885:0.0:0.9115:0.0	.	26	Q8N136	WDR69_HUMAN	N	26;26;11;11	ENSP00000362770:K26N;ENSP00000311899:K26N;ENSP00000394853:K11N;ENSP00000437887:K11N	ENSP00000311899:K26N	K	+	3	2	WDR69	228458348	1.000000	0.71417	0.998000	0.56505	0.391000	0.30476	3.703000	0.54808	2.577000	0.86979	0.655000	0.94253	AAG		0.343	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		17	218	0	0	0	0.557998	0	17	218				
KCNMA1	3778	broad.mit.edu	37	10	78669755	78669755	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:78669755G>A	ENST00000286628.8	-	25	3115	c.3116C>T	c.(3115-3117)gCc>gTc	p.A1039V	RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1043V|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1022V|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1039V|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A981V|KCNMA1_ENST00000286627.5_Missense_Mutation_p.A981V|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1008V|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1042V	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1039	Segment S10.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GACACTGACGGCAAATGCTGT	0.512																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(2941-2943)gCc>gTc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						159.0	110.0	127.0					10																	78669755		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78669755G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3116C>T	10.37:g.78669755G>A	ENSP00000286628:p.Ala1039Val					KCNMA1_ENST00000372440.1_Missense_Mutation_p.A981V|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1008V|KCNMA1_ENST00000286628.8_Missense_Mutation_p.A1039V|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1022V|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1039V|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1043V|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1042V	p.A981V	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		24	3894	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1039					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.2942C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.660229|4.660229	0.88154|0.88154	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	T;T;T;T;T;T;T;T;T|.	0.51574|.	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74772|0.74772	0.3760|0.3760	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	B;B;B;B;D;B;B;B|.	0.76494|.	0.004;0.011;0.115;0.07;0.999;0.003;0.088;0.027|.	B;B;B;B;D;B;B;B|.	0.71184|.	0.019;0.049;0.105;0.102;0.972;0.03;0.105;0.049|.	T|T	0.70949|0.70949	-0.4733|-0.4733	10|5	0.87932|.	D|.	0|.	-13.5042|-13.5042	20.1152|20.1152	0.97926|0.97926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1010;1011;1022;1039;981;792;1042;1008|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	V|S	981;918;974;1013;976;1008;981;1013;1043;1042;1022;792|932	ENSP00000361517:A981V;ENSP00000361485:A918V;ENSP00000361514:A974V;ENSP00000396608:A1013V;ENSP00000361520:A1008V;ENSP00000286627:A981V;ENSP00000385552:A1043V;ENSP00000346321:A1042V;ENSP00000385806:A1022V|.	ENSP00000286627:A981V|.	A|P	-|-	2|1	0|0	KCNMA1|KCNMA1	78339761|78339761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	9.869000|9.869000	0.99810|0.99810	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.512	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		4	83	0	0	0	0.150653	0	4	83				
IER3	8870	broad.mit.edu	37	6	30708275	30708275	+	IGR	SNP	G	G	A	rs139987312		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:30708275G>A	ENST00000259874.5	-	0	1244				FLOT1_ENST00000456573.2_Missense_Mutation_p.R142W|FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000376389.3_Missense_Mutation_p.R190W|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						TCTCTCACCCGGATCCCAGCA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20972	0.0		0.0	False		,,,				2504	0.0					ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(568-570)Cgg>Tgg		flotillin 1		G	TRP/ARG	5,3017		0,5,1506	100.0	90.0	93.0		568	2.8	1.0	6	dbSNP_134	93	0,5416		0,0,2708	yes	missense	FLOT1	NM_005803.2	101	0,5,4214	AA,AG,GG		0.0,0.1655,0.0593	probably-damaging	190/428	30708275	5,8433	1511	2708	4219	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30708275G>A	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30708275G>A						FLOT1_ENST00000456573.2_Missense_Mutation_p.R142W|FLOT1_ENST00000470643.1_5'UTR	p.R190W	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			7	788	-			190					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.568C>T	CCDS4689.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.60	3.167768	0.57476	0.001655	0.0	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000418160;ENST00000445853;ENST00000416018	T;T;T;D;D	0.97752	1.25;1.23;1.25;-3.96;-4.52	4.66	2.81	0.32909	.	0.131690	0.49305	D	0.000149	D	0.96645	0.8905	M	0.83483	2.645	0.49389	D	0.999781	D;D	0.64830	0.994;0.994	P;P	0.51701	0.677;0.556	D	0.95819	0.8848	10	0.87932	D	0	-0.6315	5.7642	0.18217	0.0925:0.0:0.5667:0.3407	.	142;190	B4DVY7;O75955	.;FLOT1_HUMAN	W	190;142;127;190;95;190;174	ENSP00000365569:R190W;ENSP00000394375:R142W;ENSP00000400615:R190W;ENSP00000398834:R190W;ENSP00000412058:R174W	ENSP00000365569:R190W	R	-	1	2	FLOT1	30816254	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.595000	0.36708	1.166000	0.42689	-0.169000	0.13324	CGG		0.532	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			101	138	0	0	0	0.870114	0	101	138				
IGHG3	3502	broad.mit.edu	37	14	106236010	106236010	+	RNA	SNP	G	G	A	rs375289170		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr14:106236010G>A	ENST00000390551.2	-	0	793							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TTTTGGAGATGGTTTTCTCGA	0.612																																						ENST00000390551.2																			0																				171.0	160.0	164.0					14																	106236010		2010	4152	6162			0							g.chr14:106236010G>A	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236010G>A														0	793	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.612	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		8	494	0	0	0	0.335167	0	8	494				
SLIT2	9353	broad.mit.edu	37	4	20597443	20597443	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:20597443C>T	ENST00000504154.1	+	31	3558	c.3306C>T	c.(3304-3306)tgC>tgT	p.C1102C	SLIT2_ENST00000503837.1_Silent_p.C1098C|SLIT2_ENST00000503823.1_Silent_p.C1094C|SLIT2_ENST00000273739.5_Silent_p.C1115C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1102	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGTGCATATGCCCCGAAGGTT	0.438																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3304-3306)tgC>tgT		slit homolog 2 (Drosophila)							111.0	104.0	107.0					4																	20597443		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20597443C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3306C>T	4.37:g.20597443C>T						SLIT2_ENST00000503823.1_Silent_p.C1094C|SLIT2_ENST00000273739.5_Silent_p.C1115C|SLIT2_ENST00000503837.1_Silent_p.C1098C	p.C1102C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			31	3558	+			1102			EGF-like 5; calcium-binding (Potential).		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3306C>T	CCDS3426.1																																																																																				0.438	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			5	215	0	0	0	0.184627	0	5	215				
CWF19L2	143884	broad.mit.edu	37	11	107299708	107299708	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:107299708G>T	ENST00000282251.5	-	8	1277	c.1250C>A	c.(1249-1251)aCa>aAa	p.T417K	CWF19L2_ENST00000433523.1_Missense_Mutation_p.T417K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	417							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACTCCATGATGTTAATCTTTC	0.418																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(1249-1251)aCa>aAa		CWF19-like 2, cell cycle control (S. pombe)							198.0	191.0	194.0					11																	107299708		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107299708G>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1250C>A	11.37:g.107299708G>T	ENSP00000282251:p.Thr417Lys					CWF19L2_ENST00000433523.1_Missense_Mutation_p.T417K	p.T417K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	8	1277	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	417					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1250C>A	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	3.156	-0.173245	0.06421	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.22336	1.96;1.96	5.54	3.63	0.41609	.	1.081050	0.06959	N	0.816000	T	0.12646	0.0307	N	0.16368	0.405	0.09310	N	1	B	0.22983	0.078	B	0.18263	0.021	T	0.24870	-1.0148	10	0.09843	T	0.71	-0.8194	8.9273	0.35648	0.1818:0.0:0.8182:0.0	.	417	Q2TBE0	C19L2_HUMAN	K	417	ENSP00000282251:T417K;ENSP00000387533:T417K	ENSP00000282251:T417K	T	-	2	0	CWF19L2	106804918	0.005000	0.15991	0.046000	0.18839	0.124000	0.20399	1.522000	0.35921	1.452000	0.47756	0.591000	0.81541	ACA		0.418	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		39	484	1	0	2.26627e-22	0.834066	2.68715e-22	39	484				
OR5H6	79295	broad.mit.edu	37	3	97983515	97983515	+	Silent	SNP	T	T	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:97983515T>C	ENST00000383696.2	+	1	428	c.387T>C	c.(385-387)ttT>ttC	p.F129F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGAATGTTTTCTCTTGGCAA	0.368																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(385-387)ttT>ttC		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							100.0	87.0	92.0					3																	97983515		2202	4298	6500	SO:0001819	synonymous_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983515T>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.387T>C	3.37:g.97983515T>C						RP11-325B23.2_ENST00000508616.1_lincRNA	p.F129F	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	428	+			129					Q6IF88	Silent	SNP	ENST00000383696.2	37	c.387T>C	CCDS33800.1																																																																																				0.368	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			26	277	0	0	0	0.654019	0	26	277				
FAM120A	23196	broad.mit.edu	37	9	96214360	96214360	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:96214360C>A	ENST00000277165.6	+	1	357	c.163C>A	c.(163-165)Cac>Aac	p.H55N	FAM120AOS_ENST00000479094.1_5'Flank|FAM120A_ENST00000333936.5_Missense_Mutation_p.H55N|FAM120AOS_ENST00000423591.1_5'Flank|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000375389.3_Missense_Mutation_p.H55N|FAM120A_ENST00000340893.4_Missense_Mutation_p.H55N	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	55						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAACTGCCTGCACCGCCTCTA	0.736																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(163-165)Cac>Aac		family with sequence similarity 120A							7.0	8.0	8.0					9																	96214360		1960	3951	5911	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96214360C>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.163C>A	9.37:g.96214360C>A	ENSP00000277165:p.His55Asn					FAM120A_ENST00000375389.3_Missense_Mutation_p.H55N|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000340893.4_Missense_Mutation_p.H55N|FAM120A_ENST00000333936.5_Missense_Mutation_p.H55N	p.H55N	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			1	357	+			55					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.163C>A	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783437	0.31593	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.43294	0.95;1.55;1.56;1.56	3.48	3.48	0.39840	.	0.000000	0.42821	U	0.000641	T	0.31040	0.0784	N	0.19112	0.55	0.45899	D	0.998742	P;P	0.51351	0.73;0.944	B;B	0.44163	0.263;0.443	T	0.08391	-1.0724	10	0.30854	T	0.27	-6.9796	14.9335	0.70935	0.0:1.0:0.0:0.0	.	55;55	Q9NZB2;Q9NZB2-2	F120A_HUMAN;.	N	55	ENSP00000364538:H55N;ENSP00000277165:H55N;ENSP00000334918:H55N;ENSP00000344698:H55N	ENSP00000277165:H55N	H	+	1	0	FAM120A	95254181	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.107000	0.64603	1.660000	0.50760	0.448000	0.29417	CAC		0.736	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		2	2	1	0	0.0784	0.115264	0.0879351	2	2				
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTGGAGGCCGGCATCAACCCC	0.507																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(433-435)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						102.0	94.0	97.0					X																	19369427		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369427G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp					PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D	p.G145D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			5	579	+	Hepatocellular(33;0.183)		107					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.434G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			4	183	0	0	0	0.150653	0	4	183				
GLP2R	9340	broad.mit.edu	37	17	9757822	9757822	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:9757822A>T	ENST00000262441.5	+	5	1028	c.515A>T	c.(514-516)tAt>tTt	p.Y172F	GLP2R_ENST00000574745.1_De_novo_Start_OutOfFrame	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	172					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GTGGATCGTTATGCCTTGCTG	0.552																																						ENST00000574745.1																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44								glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						645.0	515.0	559.0					17																	9757822		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9757822A>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.515A>T	17.37:g.9757822A>T	ENSP00000262441:p.Tyr172Phe					GLP2R_ENST00000262441.5_Missense_Mutation_p.Y172F				O95838	GLP2R_HUMAN			0	406	+								Q4VAT3	Translation_Start_Site	SNP	ENST00000262441.5	37		CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.07|10.07	1.249588|1.249588	0.22880|0.22880	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000458005|ENST00000396206;ENST00000304773;ENST00000262441	.|T	.|0.37058	.|1.22	5.03|5.03	0.139|0.139	0.14798|0.14798	.|.	.|1.241420	.|0.05987	.|N	.|0.645458	T|T	0.26231|0.26231	0.0640|0.0640	L|L	0.37800|0.37800	1.135|1.135	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.27088|0.27088	-1.0084|-1.0084	5|10	.|0.10902	.|T	.|0.67	.|.	8.4009|8.4009	0.32586|0.32586	0.6344:0.0:0.3656:0.0|0.6344:0.0:0.3656:0.0	.|.	.|172	.|O95838	.|GLP2R_HUMAN	L|F	25|172;147;172	.|ENSP00000262441:Y172F	.|ENSP00000262441:Y172F	M|Y	+|+	1|2	0|0	GLP2R|GLP2R	9698547|9698547	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.639000|0.639000	0.38242|0.38242	0.112000|0.112000	0.15479|0.15479	-0.099000|-0.099000	0.12263|0.12263	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.552	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			99	825	0	0	0	0.870114	0	99	825				
TBX20	57057	broad.mit.edu	37	7	35242048	35242048	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:35242048A>C	ENST00000408931.3	-	8	1864	c.1338T>G	c.(1336-1338)ttT>ttG	p.F446L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	446					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGAGTCATACAAATGGCGTCA	0.502																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(1336-1338)ttT>ttG		T-box 20							25.0	24.0	24.0					7																	35242048		1887	4116	6003	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35242048A>C	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1338T>G	7.37:g.35242048A>C	ENSP00000386170:p.Phe446Leu						p.F446L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			8	1864	-			446					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.1338T>G	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187552	0.78789	.	.	ENSG00000164532	ENST00000408931	D	0.88277	-2.36	5.66	-0.677	0.11357	.	0.320161	0.29307	N	0.012539	D	0.85754	0.5770	N	0.14661	0.345	0.49213	D	0.99976	P	0.49447	0.924	P	0.60682	0.878	T	0.82804	-0.0276	10	0.87932	D	0	.	10.0548	0.42239	0.689:0.0:0.311:0.0	.	446	Q9UMR3	TBX20_HUMAN	L	446	ENSP00000386170:F446L	ENSP00000386170:F446L	F	-	3	2	TBX20	35208573	1.000000	0.71417	0.965000	0.40720	0.935000	0.57460	0.994000	0.29693	-0.350000	0.08262	0.496000	0.49642	TTT		0.502	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		13	21	0	0	0	0.411799	0	13	21				
PDE6B	5158	broad.mit.edu	37	4	659049	659049	+	Silent	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:659049A>G	ENST00000496514.1	+	19	2220	c.2199A>G	c.(2197-2199)gcA>gcG	p.A733A	PDE6B_ENST00000429163.2_Silent_p.A454A|PDE6B_ENST00000255622.6_Silent_p.A733A			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	733					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TCCAGGTCGCACTTCTCGTGG	0.627																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2197-2199)gcA>gcG		phosphodiesterase 6B, cGMP-specific, rod, beta							60.0	56.0	57.0					4																	659049		2203	4299	6502	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:659049A>G	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2199A>G	4.37:g.659049A>G						PDE6B_ENST00000429163.2_Silent_p.A454A|PDE6B_ENST00000496514.1_Silent_p.A733A	p.A733A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			19	2242	+			733					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.2199A>G	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	A	5.971	0.363097	0.11296	.	.	ENSG00000133256	ENST00000461490	.	.	.	4.69	-3.29	0.05017	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36286	-0.9754	4	.	.	.	.	0.6123	0.00763	0.382:0.169:0.1215:0.3274	.	.	.	.	R	14	.	.	H	+	2	0	PDE6B	649049	0.032000	0.19561	0.898000	0.35279	0.425000	0.31504	-1.151000	0.03175	-0.320000	0.08640	-0.672000	0.03802	CAC		0.627	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		11	43	0	0	0	0.575678	0	11	43				
LAMA2	3908	broad.mit.edu	37	6	129475728	129475728	+	Missense_Mutation	SNP	G	G	A	rs367649718		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:129475728G>A	ENST00000421865.2	+	8	1155	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	369	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R369L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAATATACGTGGAAAGTAC	0.388													g|||	1	0.000199681	0.0	0.0	5008	,	,		15017	0.0		0.0	False		,,,				2504	0.001					ENST00000421865.2																			1	Substitution - Missense(1)	p.R369L(1)	ovary(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(1105-1107)cGt>cAt		laminin, alpha 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	92.0	92.0		1106,1106	2.4	1.0	6		92	0,8600		0,0,4300	no	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	369/3123,369/3119	129475728	1,13005	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129475728G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1106G>A	6.37:g.129475728G>A	ENSP00000400365:p.Arg369His						p.R369H	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	8	1155	+			369			Laminin EGF-like 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1106G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	g	5.272	0.235698	0.10023	2.27E-4	0.0	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.33438	1.41	6.06	2.37	0.29283	EGF-like, laminin (3);	0.479957	0.22257	N	0.062465	T	0.01870	0.0059	N	0.01505	-0.83	0.23923	N	0.996455	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45190	-0.9278	10	0.05620	T	0.96	.	4.3752	0.11267	0.5978:0.0:0.1975:0.2046	.	369;369	A6NF00;P24043	.;LAMA2_HUMAN	H	369	ENSP00000400365:R369H	ENSP00000346769:R369H	R	+	2	0	LAMA2	129517421	0.951000	0.32395	0.994000	0.49952	0.934000	0.57294	1.741000	0.38238	0.166000	0.19597	-0.285000	0.09966	CGT		0.388	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			81	107	0	0	0	0.870114	0	81	107				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	165	0	0	0	0.184627	0	5	165				
SPPL2C	162540	broad.mit.edu	37	17	43923828	43923828	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:43923828G>A	ENST00000329196.5	+	1	1573	c.1556G>A	c.(1555-1557)cGc>cAc	p.R519H	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	519						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCTGCCTGCCGCCAAGAGCTC	0.622																																						ENST00000329196.5																			0											c.(1555-1557)cGc>cAc		signal peptide peptidase like 2C							57.0	59.0	58.0					17																	43923828		2203	4298	6501	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923828G>A		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1556G>A	17.37:g.43923828G>A	ENSP00000332488:p.Arg519His					MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.R519H	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	1573	+			519					Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.1556G>A	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689538	0.48097	.	.	ENSG00000185294	ENST00000329196	T	0.24538	1.85	5.07	4.1	0.47936	.	0.000000	0.44285	D	0.000480	T	0.54711	0.1875	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63047	-0.6724	10	0.87932	D	0	-17.8727	11.5138	0.50509	0.087:0.0:0.913:0.0	.	519	Q8IUH8	IMP5_HUMAN	H	519	ENSP00000332488:R519H	ENSP00000332488:R519H	R	+	2	0	AC217771.1	41279608	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.095000	0.57728	1.356000	0.45884	-0.137000	0.14449	CGC		0.622	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		5	107	0	0	0	0.184627	0	5	107				
CSPP1	79848	broad.mit.edu	37	8	68028332	68028332	+	Missense_Mutation	SNP	G	G	A	rs374214705		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr8:68028332G>A	ENST00000262210.5	+	11	1487	c.1456G>A	c.(1456-1458)Gcc>Acc	p.A486T	CSPP1_ENST00000412460.1_Missense_Mutation_p.A192T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	521	Pro-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACTCAGCAGCGCCCTTGGTGA	0.443																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1456-1458)Gcc>Acc		centrosome and spindle pole associated protein 1		G	THR/ALA	0,3796		0,0,1898	128.0	126.0	127.0		1456	4.0	1.0	8		127	1,8243		0,1,4121	no	missense	CSPP1	NM_024790.6	58	0,1,6019	AA,AG,GG		0.0121,0.0,0.0083	benign	486/1222	68028332	1,12039	1898	4122	6020	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68028332G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1456G>A	8.37:g.68028332G>A	ENSP00000262210:p.Ala486Thr					CSPP1_ENST00000412460.1_Missense_Mutation_p.A192T	p.A486T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		11	1487	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	521			Pro-rich.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1456G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	0.246	-1.010138	0.02095	0.0	1.21E-4	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.27720	1.65;1.71;1.71	5.08	3.96	0.45880	.	0.197407	0.33364	N	0.004989	T	0.06050	0.0157	N	0.00246	-1.78	0.27486	N	0.952434	B;B;B;B	0.09022	0.0;0.002;0.002;0.002	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.35301	-0.9794	10	0.02654	T	1	-3.2695	7.9665	0.30102	0.8957:0.0:0.1043:0.0	.	192;486;521;521	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	T	486;521;192;192	ENSP00000262210:A486T;ENSP00000415782:A192T;ENSP00000430092:A192T	ENSP00000262210:A486T	A	+	1	0	CSPP1	68190886	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	2.630000	0.46494	1.010000	0.39314	0.655000	0.94253	GCC		0.443	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		9	244	0	0	0	0.335167	0	9	244				
SLC22A13	9390	broad.mit.edu	37	3	38316103	38316103	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:38316103G>A	ENST00000311856.4	+	3	540	c.491G>A	c.(490-492)cGc>cAc	p.R164H	SLC22A13_ENST00000450935.2_Intron	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	164					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AGGATTGGCCGCAAGGCCACA	0.637																																						ENST00000311856.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20						c.(490-492)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 13							45.0	45.0	45.0					3																	38316103		2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38316103G>A	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.491G>A	3.37:g.38316103G>A	ENSP00000310241:p.Arg164His					SLC22A13_ENST00000450935.2_Intron	p.R164H	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	3	540	+			164					B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.491G>A	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106252	0.77096	.	.	ENSG00000172940	ENST00000311856	D	0.84370	-1.84	4.96	4.02	0.46733	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91267	0.7247	H	0.94306	3.52	0.80722	D	1	D;P	0.55605	0.972;0.939	P;P	0.50490	0.642;0.638	D	0.92683	0.6160	10	0.87932	D	0	.	12.2644	0.54670	0.087:0.0:0.913:0.0	.	164;164	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	H	164	ENSP00000310241:R164H	ENSP00000310241:R164H	R	+	2	0	SLC22A13	38291107	1.000000	0.71417	0.897000	0.35233	0.731000	0.41821	4.274000	0.58921	1.116000	0.41820	0.655000	0.94253	CGC		0.637	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		3	57	0	0	0	0.150653	0	3	57				
MACC1	346389	broad.mit.edu	37	7	20198861	20198861	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:20198861A>G	ENST00000400331.5	-	5	1431	c.1123T>C	c.(1123-1125)Tat>Cat	p.Y375H	MACC1_ENST00000332878.4_Missense_Mutation_p.Y375H|MACC1_ENST00000589011.1_Missense_Mutation_p.Y375H	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	375					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTGGGTCCATAAATTCCAATT	0.398																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(1123-1125)Tat>Cat		metastasis associated in colon cancer 1							55.0	51.0	52.0					7																	20198861		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198861A>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1123T>C	7.37:g.20198861A>G	ENSP00000383185:p.Tyr375His					MACC1_ENST00000332878.4_Missense_Mutation_p.Y375H|MACC1_ENST00000589011.1_Missense_Mutation_p.Y375H	p.Y375H	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1431	-			375					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1123T>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700109	0.68501	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.23348	1.91;1.91	5.72	5.72	0.89469	.	0.110120	0.64402	D	0.000004	T	0.52224	0.1721	M	0.78637	2.42	0.58432	D	0.999997	D	0.76494	0.999	D	0.67231	0.95	T	0.57376	-0.7822	10	0.87932	D	0	-11.2754	15.9957	0.80237	1.0:0.0:0.0:0.0	.	375	Q6ZN28	MACC1_HUMAN	H	375	ENSP00000383185:Y375H;ENSP00000328410:Y375H	ENSP00000328410:Y375H	Y	-	1	0	MACC1	20165386	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	2.172000	0.68678	0.482000	0.46254	TAT		0.398	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		66	90	0	0	0	0.870114	0	66	90				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	168	0	0	0	0.248553	0	4	168				
WNT9B	7484	broad.mit.edu	37	17	44953783	44953783	+	Missense_Mutation	SNP	G	G	A	rs149931425	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:44953783G>A	ENST00000290015.2	+	4	826	c.773G>A	c.(772-774)cGc>cAc	p.R258H	WNT9B_ENST00000393461.2_Missense_Mutation_p.R258H	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	258					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCTTGGGCCGCCTAGAGCTG	0.642													G|||	5	0.000998403	0.0	0.0	5008	,	,		20005	0.005		0.0	False		,,,				2504	0.0					ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(772-774)cGc>cAc		wingless-type MMTV integration site family, member 9B							50.0	48.0	49.0					17																	44953783		2203	4300	6503	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44953783G>A	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.773G>A	17.37:g.44953783G>A	ENSP00000290015:p.Arg258His					WNT9B_ENST00000290015.2_Missense_Mutation_p.R258H	p.R258H			O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	826	+			258					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.773G>A	CCDS11506.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	13.32	2.203207	0.38905	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.76186	-1.0;-1.0	4.56	3.59	0.41128	.	0.133642	0.34828	N	0.003648	T	0.46560	0.1399	N	0.13098	0.295	0.37722	D	0.924964	B;B	0.18863	0.004;0.031	B;B	0.17722	0.008;0.019	T	0.51896	-0.8647	10	0.45353	T	0.12	.	7.471	0.27349	0.2468:0.0:0.7532:0.0	.	258;258	E7EPC3;O14905	.;WNT9B_HUMAN	H	252;258;258	ENSP00000377105:R258H;ENSP00000290015:R258H	ENSP00000290015:R258H	R	+	2	0	WNT9B	42308782	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.808000	0.55598	1.153000	0.42468	0.561000	0.74099	CGC		0.642	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		52	80	0	0	0	0.870114	0	52	80				
TNRC6A	27327	broad.mit.edu	37	16	24826581	24826581	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:24826581C>T	ENST00000395799.3	+	19	4915	c.4786C>T	c.(4786-4788)Cgt>Tgt	p.R1596C	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1596					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4786-4788)Cgt>Tgt		trinucleotide repeat containing 6A							86.0	81.0	83.0					16																	24826581		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24826581C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4786C>T	16.37:g.24826581C>T	ENSP00000379144:p.Arg1596Cys					TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C	p.R1596C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	19	4915	+			1596					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4786C>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.532363|4.532363	0.85812|0.85812	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.14640|.	2.52;2.49|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72771|0.72771	0.3502|0.3502	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.978;0.993;1.0|.	P;P;P;D|.	0.64506|.	0.855;0.676;0.707;0.926|.	T|T	0.70659|0.70659	-0.4811|-0.4811	10|5	0.56958|.	D|.	0.05|.	-8.203|-8.203	15.0829|15.0829	0.72127|0.72127	0.1417:0.8583:0.0:0.0|0.1417:0.8583:0.0:0.0	.|.	263;735;1547;1596|.	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7|.	.;.;.;TNR6A_HUMAN|.	C|M	1547;1596;74|486	ENSP00000326900:R1547C;ENSP00000379144:R1596C|.	ENSP00000326900:R1547C|.	R|T	+|+	1|2	0|0	TNRC6A|TNRC6A	24734082|24734082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.867000|4.867000	0.63013|0.63013	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.448	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		58	88	0	0	0	0.870114	0	58	88				
SH2D3C	10044	broad.mit.edu	37	9	130507277	130507277	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:130507277C>T	ENST00000314830.8	-	7	1479	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	SH2D3C_ENST00000420366.1_Missense_Mutation_p.A298T|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A299T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A388T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A296T|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A102T|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	456					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCTTTGGGGCACTTCCGGGA	0.662																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1366-1368)Gcc>Acc		SH2 domain containing 3C							37.0	46.0	42.0					9																	130507277		2203	4298	6501	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507277C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1366G>A	9.37:g.130507277C>T	ENSP00000317817:p.Ala456Thr					SH2D3C_ENST00000373274.3_Missense_Mutation_p.A296T|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A299T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A388T|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A102T|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A298T	p.A456T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1479	-			456					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1366G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586674	0.28268	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.37	0.296	0.15757	.	1.010990	0.07890	N	0.971087	T	0.17152	0.0412	N	0.02011	-0.69	0.22745	N	0.998784	B;B;B;B;B	0.10296	0.0;0.0;0.003;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.002	T	0.25779	-1.0122	10	0.22706	T	0.39	-2.5162	8.5096	0.33208	0.0:0.4148:0.0:0.5852	.	296;456;388;299;298	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	T	299;298;388;296;102;456	ENSP00000362374:A299T;ENSP00000388536:A298T;ENSP00000362373:A388T;ENSP00000362371:A296T;ENSP00000394632:A102T;ENSP00000317817:A456T	ENSP00000317817:A456T	A	-	1	0	SH2D3C	129547098	0.000000	0.05858	0.996000	0.52242	0.779000	0.44077	-0.353000	0.07691	0.004000	0.14682	0.462000	0.41574	GCC		0.662	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		24	171	0	0	0	0.624587	0	24	171				
LRIG3	121227	broad.mit.edu	37	12	59271321	59271321	+	Silent	SNP	C	C	T	rs369890620		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:59271321C>T	ENST00000320743.3	-	15	2683	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	LRIG3_ENST00000379141.4_Silent_p.S739S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	799					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCGTCTAACGATGGGGCTG	0.562			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2395-2397)tcG>tcA		leucine-rich repeats and immunoglobulin-like domains 3		C	,	0,4406		0,0,2203	168.0	106.0	127.0		2217,2397	-10.9	0.0	12		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRIG3	NM_001136051.1,NM_153377.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	739/1060,799/1120	59271321	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59271321C>T	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2397G>A	12.37:g.59271321C>T						LRIG3_ENST00000379141.4_Silent_p.S739S	p.S799S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2683	-			799					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.2397G>A	CCDS8960.1																																																																																				0.562	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		47	68	0	0	0	0.870114	0	47	68				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	66	0	0	0	0.278610	0	7	66				
FOXP4	116113	broad.mit.edu	37	6	41554783	41554783	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:41554783C>T	ENST00000307972.4	+	5	559	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	FOXP4_ENST00000373063.3_Missense_Mutation_p.L183F|FOXP4_ENST00000373060.1_Missense_Mutation_p.L183F|FOXP4_ENST00000373057.3_Missense_Mutation_p.L181F|FOXP4_ENST00000409208.1_Missense_Mutation_p.L183F			Q8IVH2	FOXP4_HUMAN	forkhead box P4	183	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAGCAGCAGCTCCTGCAAAT	0.662											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(547-549)Ctc>Ttc		forkhead box P4							24.0	27.0	26.0					6																	41554783		2198	4298	6496	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41554783C>T	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.547C>T	6.37:g.41554783C>T	ENSP00000309823:p.Leu183Phe		OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	FOXP4_ENST00000373063.3_Missense_Mutation_p.L183F|FOXP4_ENST00000409208.1_Missense_Mutation_p.L183F|FOXP4_ENST00000373057.3_Missense_Mutation_p.L181F|FOXP4_ENST00000307972.4_Missense_Mutation_p.L183F	p.L183F	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			6	1005	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		183			Gln-rich.		Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.547C>T	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388365	0.61956	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;D;T;T;T	0.92149	1.18;-2.98;1.18;1.18;1.18	4.57	4.57	0.56435	.	0.162851	0.41712	D	0.000825	D	0.93161	0.7822	M	0.80746	2.51	0.48087	D	0.999589	D;D;D	0.58970	0.984;0.984;0.984	P;P;P	0.55161	0.77;0.77;0.77	D	0.93348	0.6716	10	0.52906	T	0.07	.	12.8325	0.57754	0.0:0.9172:0.0:0.0828	.	183;181;183	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	F	183;183;183;181;183	ENSP00000362151:L183F;ENSP00000362154:L183F;ENSP00000386958:L183F;ENSP00000362148:L181F;ENSP00000309823:L183F	ENSP00000309823:L183F	L	+	1	0	FOXP4	41662761	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.656000	0.61483	2.073000	0.62155	0.561000	0.74099	CTC		0.662	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		8	53	0	0	0	0.307466	0	8	53				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			52	105	0	0	0	0.870114	0	52	105				
PCDHA12	56137	broad.mit.edu	37	5	140256670	140256670	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr5:140256670G>A	ENST00000398631.2	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R538H(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCCGGC	0.692																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			1	Substitution - Missense(1)	p.R538H(1)	endometrium(1)	NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1612-1614)cGc>cAc									76.0	84.0	81.0					5																	140256670		2203	4298	6501	SO:0001583	missense	0							g.chr5:140256670G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1613G>A	5.37:g.140256670G>A	ENSP00000381628:p.Arg538His					PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.R538H	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1613	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1613G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994894	0.35226	.	.	ENSG00000251664	ENST00000398631	T	0.54479	0.57	4.92	4.05	0.47172	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.47322	0.1439	L	0.41415	1.275	0.23003	N	0.998446	P;P	0.41748	0.761;0.469	P;B	0.45577	0.486;0.082	T	0.39542	-0.9609	9	0.59425	D	0.04	.	5.7722	0.18259	0.1719:0.28:0.5481:0.0	.	538;538	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	H	538	ENSP00000381628:R538H	ENSP00000381628:R538H	R	+	2	0	PCDHA12	140236854	0.000000	0.05858	0.995000	0.50966	0.771000	0.43674	-0.210000	0.09345	1.068000	0.40764	0.561000	0.74099	CGC		0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		7	212	0	0	0	0.278610	0	7	212				
SESN2	83667	broad.mit.edu	37	1	28598956	28598956	+	Silent	SNP	C	C	T	rs373209094		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:28598956C>T	ENST00000253063.3	+	4	837	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	172					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATGGCTCATCACCAAGG	0.652																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(514-516)ctC>ctT		sestrin 2		C		1,4405	2.1+/-5.4	0,1,2202	56.0	57.0	56.0		516	-3.4	1.0	1		56	0,8600		0,0,4300	no	coding-synonymous	SESN2	NM_031459.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		172/481	28598956	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28598956C>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.516C>T	1.37:g.28598956C>T							p.L172L	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	4	837	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	172					Q5T7D0|Q96SI5	Silent	SNP	ENST00000253063.3	37	c.516C>T	CCDS321.1																																																																																				0.652	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			55	93	0	0	0	0.870114	0	55	93				
OR2T1	26696	broad.mit.edu	37	1	248570073	248570073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:248570073delC	ENST00000366474.1	+	1	778	c.778delC	c.(778-780)cctfs	p.P260fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(778-780)ctfs		olfactory receptor, family 2, subfamily T, member 1							282.0	236.0	251.0					1																	248570073		2203	4300	6503	SO:0001589	frameshift_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570073delC	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.778delC	1.37:g.248570073delC	ENSP00000355430:p.Pro260fs						p.P260fs	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	778	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		260					Q6IEZ9	Frame_Shift_Del	DEL	ENST00000366474.1	37	c.778delC	CCDS31115.1																																																																																				0.507	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			36	166						36	166	---	---	---	---
STAG3L1	54441	broad.mit.edu	37	7	74991539	74991539	+	RNA	DEL	C	C	-	rs375690101		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:74991539delC	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN	stromal antigen 3-like 1 (pseudogene)							nucleus (GO:0005634)											AGAGCATGttctttttttttt	0.418																																						ENST00000402225.5																			0																																																			0					nucleus	binding	g.chr7:74991539delC			7q11.23	2013-06-26	2013-06-26		ENSG00000205583	ENSG00000205583			33852	pseudogene	pseudogene			"""stromal antigen 3-like 1"""				Standard	NR_040583		Approved	DKFZP434A0131, STAG3L1P	uc022agf.1	P0CL83	OTTHUMG00000155940		7.37:g.74991539delC										P0CL83	ST3L1_HUMAN			0	434	+								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000402225.5	37																																																																																						0.418	STAG3L1-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000437242.1	NM_001002840		2	4						2	4	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		4	6						4	6	---	---	---	---
RP11-390F4.6	0	broad.mit.edu	37	9	6663835	6663836	+	lincRNA	INS	-	-	AAAC	rs34389938|rs140481533|rs150953125		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:6663835_6663836insAAAC	ENST00000413145.1	+	0	130				RN7SL123P_ENST00000577239.1_RNA																							GTCCTATTTGTaaacaaacaaa	0.411																																						ENST00000413145.1																			0																																																			0							g.chr9:6663835_6663836insAAAC																													9.37:g.6663840_6663843dupAAAC														0	130	+									RNA	INS	ENST00000413145.1	37																																																																																						0.411	RP11-390F4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051688.1			4	3						4	3	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5784139	5784140	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:5784139_5784140delAA	ENST00000328090.5	+	14	3032_3033	c.2407_2408delAA	c.(2407-2409)aatfs	p.N803fs	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	803																	GTTTTACAGCAATCAGAACAAA	0.396																																						ENST00000328090.5																			0											c.(2407-2409)tfs		family with sequence similarity 208, member B																																				SO:0001589	frameshift_variant	54906							g.chr10:5784139_5784140delAA	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2407_2408delAA	10.37:g.5784139_5784140delAA	ENSP00000328426:p.Asn803fs					RP11-336A10.2_ENST00000411512.2_RNA	p.N803fs	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			14	3032_3033	+			803					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Frame_Shift_Del	DEL	ENST00000328090.5	37	c.2407_2408delAA	CCDS41485.1																																																																																				0.396	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		70	220						70	220	---	---	---	---
AC012322.1	0	broad.mit.edu	37	16	64375614	64375616	+	lincRNA	DEL	TCT	TCT	-	rs148029051		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:64375614_64375616delTCT	ENST00000561657.1	-	0	381																											ttcctctctctcttttcttgtct	0.512																																						ENST00000561657.1																			0																																																			0							g.chr16:64375614_64375616delTCT																													16.37:g.64375614_64375616delTCT														0	381	-									RNA	DEL	ENST00000561657.1	37																																																																																						0.512	AC012322.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420578.1			6	5						6	5	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76944356	76944356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:76944356delT	ENST00000373344.5	-	7	763	c.549delA	c.(547-549)aaafs	p.K183fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K145fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	183	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.		Missing (in ATRX). {ECO:0000269|PubMed:10204841}.		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						AAATGGAATCTTTTTGAAAAT	0.353			"""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.(547-549)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						155.0	144.0	147.0					X																	76944356		2203	4296	6499	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:76944356delT	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.549delA	X.37:g.76944356delT	ENSP00000362441:p.Lys183fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K145fs	p.K183fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			7	763	-			183		Missing (in ATRX).	ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.549delA	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		157	237						157	237	---	---	---	---
