#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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HNRNPCL1	343069	broad.mit.edu	37	1	12907844	12907844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:12907844G>T	ENST00000317869.6	-	2	524	c.299C>A	c.(298-300)tCa>tAa	p.S100*		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	100						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S100*(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTCCGCTGCTGATCGTTTCAC	0.488																																						uc009vno.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(298-300)TCA>TAA		heterogeneous nuclear ribonucleoprotein C-like							133.0	126.0	128.0					1																	12907844		2203	4300	6503	SO:0001587	stop_gained	649330						nucleic acid binding|nucleotide binding	g.chr1:12907844G>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.299C>A	1.37:g.12907844G>T	ENSP00000365370:p.Ser100*					HNRNPCL1_uc010obf.1_Nonsense_Mutation_p.S100*	p.S100*	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	394	-			100					B2RP44	Nonsense_Mutation	SNP	ENST00000317869.6	37	c.299C>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	18.99	3.739207	0.69304	.	.	ENSG00000179172	ENST00000317869	.	.	.	1.09	1.09	0.20402	.	0.171426	0.38778	U	0.001569	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1133	0.30928	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000365370:S100X	S	-	2	0	HNRNPCL1	12830431	0.985000	0.35326	0.034000	0.17996	0.023000	0.10783	3.671000	0.54576	0.916000	0.36871	0.416000	0.27883	TCA		PASS	0.488	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		17	107	17	107	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16913756	16913756	+	Splice_Site	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:16913756C>A	ENST00000430580.2	-	11	1454	c.567G>T	c.(565-567)agG>agT	p.R189S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	189	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTGCACCTCCCTGATGAGCC	0.522																																						uc009vos.1																			0					0						c.(565-567)AGG>AGT		hypothetical protein LOC55672							39.0	34.0	36.0					1																	16913756		1968	4085	6053	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16913756C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.567-1G>T	1.37:g.16913756C>A						NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron	p.R189S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	11	1455	-			189			NBPF 1.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.567G>T																																																																																					PASS	0.522	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Missense_Mutation	64	474	64	474	---	---	---	---
PAX7	5081	broad.mit.edu	37	1	19018401	19018401	+	Missense_Mutation	SNP	G	G	T	rs373331822		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:19018401G>T	ENST00000375375.3	+	5	1338	c.740G>T	c.(739-741)cGc>cTc	p.R247L	PAX7_ENST00000400661.3_Missense_Mutation_p.R245L|PAX7_ENST00000420770.2_Missense_Mutation_p.R247L	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	247					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R247L(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ATATACACCCGCGAGGAGCTG	0.607			T	FOXO1A	alveolar rhabdomyosarcoma																																	uc001bay.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	2	Substitution - Missense(2)		lung(2)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(739-741)CGC>CTC		paired box 7 isoform 1							42.0	38.0	40.0					1																	19018401		2202	4299	6501	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19018401G>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.740G>T	1.37:g.19018401G>T	ENSP00000364524:p.Arg247Leu					PAX7_uc001baz.2_Missense_Mutation_p.R245L|PAX7_uc010oct.1_Missense_Mutation_p.R247L	p.R247L	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	5	1338	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	247			Homeobox.		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.740G>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998883	0.93227	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.97328	-4.34;-4.34;-4.34	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.108536	0.64402	D	0.000018	D	0.98934	0.9638	H	0.96970	3.915	0.80722	D	1	P;P;D	0.65815	0.872;0.91;0.995	B;B;D	0.66497	0.392;0.346;0.944	D	0.99552	1.0966	10	0.87932	D	0	.	16.519	0.84308	0.0:0.0:1.0:0.0	.	247;245;247	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	L	247;247;245	ENSP00000364524:R247L;ENSP00000403389:R247L;ENSP00000383502:R245L	ENSP00000364524:R247L	R	+	2	0	PAX7	18890988	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	9.823000	0.99369	2.243000	0.73865	0.561000	0.74099	CGC		PASS	0.607	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		14	20	14	20	---	---	---	---
MYCBP	26292	broad.mit.edu	37	1	39330343	39330343	+	Nonstop_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:39330343T>C	ENST00000397572.2	-	5	1110	c.311A>G	c.(310-312)tAg>tGg	p.*104W	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_3'UTR|RP5-864K19.4_ENST00000433671.2_RNA	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	0					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.*104W(1)		large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				AGAAGAATCCTATTCAGCACG	0.338																																					Esophageal Squamous(155;912 1855 21572 25911 44247)	uc001ccr.2																			1	Nonstop extension(1)		lung(1)	ovary(1)	1						c.(-33--29)ATAGG>ATGGG		Ras-related GTP binding C							75.0	70.0	72.0					1																	39330343		2203	4300	6503	SO:0001578	stop_lost	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39330343T>C	AB007191	CCDS431.1	1p33-p32.2	2013-07-09	2013-07-09		ENSG00000214114	ENSG00000214114			7554	protein-coding gene	gene with protein product	"""associate of myc-1"""	606535	"""c-myc binding protein"""			9797456	Standard	NM_012333		Approved	AMY-1	uc001ccs.3	Q99417	OTTHUMG00000000484	ENST00000397572.2:c.311A>G	1.37:g.39330343T>C	ENSP00000380702:p.*104Serext*9					MYCBP_uc001ccs.2_Nonstop_Mutation_p.*104W		NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN			6	954	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)						B2R4N0|Q5TA64|Q96HE2	Translation_Start_Site	SNP	ENST00000397572.2	37	c.-31A>G	CCDS431.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334317	0.60853	.	.	ENSG00000214114	ENST00000397572	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3624	0.60663	0.0:0.0:0.0:1.0	.	.	.	.	W	104	.	.	X	-	2	0	MYCBP	39102930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.169000	0.64984	2.083000	0.62718	0.460000	0.39030	TAG		PASS	0.338	MYCBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001209.1	NM_012333		36	527	36	527	---	---	---	---
KDM4A	9682	broad.mit.edu	37	1	44137484	44137484	+	Missense_Mutation	SNP	G	G	C	rs185752390	byFrequency	TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:44137484G>C	ENST00000372396.3	+	11	1806	c.1672G>C	c.(1672-1674)Gag>Cag	p.E558Q		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	558					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E558Q(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CACTGTGGGAGAGCCATGCAC	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		17688	0.0		0.002	False		,,,				2504	0.0					uc001cjx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1672-1674)GAG>CAG		jumonji domain containing 2A							91.0	96.0	94.0					1																	44137484		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44137484G>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1672G>C	1.37:g.44137484G>C	ENSP00000361473:p.Glu558Gln					KDM4A_uc010oki.1_Intron	p.E558Q	NM_014663	NP_055478	O75164	KDM4A_HUMAN			11	1838	+			558					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.1672G>C	CCDS491.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.47	3.132514	0.56828	.	.	ENSG00000066135	ENST00000372396	T	0.44083	0.93	5.17	4.23	0.50019	.	0.556527	0.19410	N	0.114943	T	0.52025	0.1709	L	0.40543	1.245	0.39529	D	0.96863	D	0.63880	0.993	D	0.72982	0.979	T	0.43605	-0.9381	10	0.14656	T	0.56	-21.4184	14.6465	0.68764	0.0:0.1456:0.8544:0.0	.	558	O75164	KDM4A_HUMAN	Q	558	ENSP00000361473:E558Q	ENSP00000361473:E558Q	E	+	1	0	KDM4A	43910071	1.000000	0.71417	0.838000	0.33150	0.329000	0.28539	5.083000	0.64456	1.456000	0.47831	0.650000	0.86243	GAG		PASS	0.592	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		63	238	63	238	---	---	---	---
CYP4Z1	199974	broad.mit.edu	37	1	47564825	47564825	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:47564825G>A	ENST00000334194.3	+	8	939	c.936G>A	c.(934-936)atG>atA	p.M312I	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	312						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.M312I(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AAACGTTCATGTTTGCAGGAC	0.448																																						uc001cqu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(934-936)ATG>ATA		cytochrome P450 4Z1							131.0	122.0	125.0					1																	47564825		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47564825G>A	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.936G>A	1.37:g.47564825G>A	ENSP00000334246:p.Met312Ile						p.M312I	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			8	939	+			312			Lumenal (Potential).		Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.936G>A	CCDS545.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133677	0.56828	.	.	ENSG00000186160	ENST00000334194	T	0.69040	-0.37	2.66	-0.837	0.10766	.	0.063071	0.64402	U	0.000013	T	0.52581	0.1743	L	0.52573	1.65	0.29948	N	0.820449	B	0.14438	0.01	B	0.11329	0.006	T	0.45614	-0.9249	10	0.62326	D	0.03	.	4.9473	0.13997	0.2257:0.1733:0.601:0.0	.	312	Q86W10	CP4Z1_HUMAN	I	312	ENSP00000334246:M312I	ENSP00000334246:M312I	M	+	3	0	CYP4Z1	47337412	1.000000	0.71417	0.370000	0.25965	0.937000	0.57800	3.547000	0.53663	-0.309000	0.08779	0.306000	0.20318	ATG		PASS	0.448	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		79	221	79	221	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67185013	67185013	+	Missense_Mutation	SNP	C	C	G	rs368153315		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:67185013C>G	ENST00000371037.4	+	19	1744	c.1667C>G	c.(1666-1668)gCt>gGt	p.A556G	SGIP1_ENST00000371035.3_Missense_Mutation_p.A346G|SGIP1_ENST00000237247.6_Missense_Mutation_p.A587G|SGIP1_ENST00000371039.1_Missense_Mutation_p.A359G|SGIP1_ENST00000371036.3_Missense_Mutation_p.A358G|SGIP1_ENST00000435165.2_Missense_Mutation_p.A61G	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	556					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.A359G(1)|p.A556G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACCATGGGAGCTCAGGACACT	0.423																																						uc001dcr.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1666-1668)GCT>GGT		SH3-domain GRB2-like (endophilin) interacting		C	GLY/ALA	0,4406		0,0,2203	69.0	64.0	66.0		1667	5.4	1.0	1		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	SGIP1	NM_032291.2	60	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	556/829	67185013	1,13005	2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67185013C>G	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1667C>G	1.37:g.67185013C>G	ENSP00000360076:p.Ala556Gly					SGIP1_uc010opd.1_Missense_Mutation_p.A156G|SGIP1_uc001dcs.2_Missense_Mutation_p.A156G|SGIP1_uc001dct.2_Missense_Mutation_p.A158G|SGIP1_uc009wat.2_Missense_Mutation_p.A350G|SGIP1_uc001dcu.2_Missense_Mutation_p.A61G	p.A556G	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			19	1884	+			556					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1667C>G	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305762	0.81247	0.0	1.16E-4	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.48201	2.47;2.43;2.43;2.43;2.43;0.82	5.4	5.4	0.78164	.	0.052213	0.85682	D	0.000000	T	0.45438	0.1342	L	0.51422	1.61	0.54753	D	0.999983	P;B;P;P;B	0.52170	0.951;0.156;0.817;0.924;0.044	P;B;B;B;B	0.51918	0.684;0.073;0.22;0.344;0.053	T	0.19679	-1.0298	10	0.29301	T	0.29	-13.0288	19.1779	0.93611	0.0:1.0:0.0:0.0	.	586;61;158;346;556	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	G	587;359;346;586;559;358;556;61	ENSP00000237247:A587G;ENSP00000360078:A359G;ENSP00000360074:A346G;ENSP00000360075:A358G;ENSP00000360076:A556G;ENSP00000395525:A61G	ENSP00000237247:A587G	A	+	2	0	SGIP1	66957601	0.999000	0.42202	1.000000	0.80357	0.852000	0.48524	4.612000	0.61169	2.528000	0.85240	0.650000	0.86243	GCT		PASS	0.423	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		25	52	25	52	---	---	---	---
TCTEX1D1	200132	broad.mit.edu	37	1	67220352	67220352	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:67220352C>G	ENST00000282670.2	+	2	139	c.11C>G	c.(10-12)tCa>tGa	p.S4*	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	4								p.S4*(1)		large_intestine(2)|lung(10)|skin(1)	13						ATGATGATGTCAGACAATGCT	0.368																																						uc001dcv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(10-12)TCA>TGA		Tctex1 domain containing 1							75.0	75.0	75.0					1																	67220352		2203	4300	6503	SO:0001587	stop_gained	200132							g.chr1:67220352C>G	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.11C>G	1.37:g.67220352C>G	ENSP00000282670:p.Ser4*					TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA	p.S4*	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN			2	142	+			4					Q06YR9|Q5VYE1	Nonsense_Mutation	SNP	ENST00000282670.2	37	c.11C>G	CCDS633.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682957	0.88542	.	.	ENSG00000152760	ENST00000282670	.	.	.	4.4	4.4	0.53042	.	0.222913	0.39615	N	0.001312	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.2611	14.7723	0.69688	0.0:1.0:0.0:0.0	.	.	.	.	X	4	.	ENSP00000282670:S4X	S	+	2	0	TCTEX1D1	66992940	1.000000	0.71417	0.293000	0.24932	0.119000	0.20118	4.566000	0.60843	2.397000	0.81536	0.655000	0.94253	TCA		PASS	0.368	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		35	72	35	72	---	---	---	---
TYW3	127253	broad.mit.edu	37	1	75229610	75229610	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:75229610G>A	ENST00000370867.3	+	6	682	c.593G>A	c.(592-594)aGg>aAg	p.R198K	TYW3_ENST00000457880.2_Missense_Mutation_p.R165K|TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000479111.1_Missense_Mutation_p.R78K|TYW3_ENST00000421739.2_Missense_Mutation_p.R114K	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	198					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.R198K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GCTTTGGAAAGGGAAACGATG	0.348																																						uc001dgn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(592-594)AGG>AAG		tRNA-yW synthesizing protein 3 homolog isoform							81.0	87.0	85.0					1																	75229610		2202	4299	6501	SO:0001583	missense	127253				tRNA processing		methyltransferase activity	g.chr1:75229610G>A	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.593G>A	1.37:g.75229610G>A	ENSP00000359904:p.Arg198Lys					TYW3_uc010oqw.1_Missense_Mutation_p.R165K|TYW3_uc010oqx.1_Missense_Mutation_p.R114K|TYW3_uc010oqy.1_RNA	p.R198K	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN			6	682	+			198					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	c.593G>A	CCDS666.1	.	.	.	.	.	.	.	.	.	.	G	0.636	-0.815138	0.02776	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T	0.41065	1.01;1.58	5.3	-1.2	0.09554	.	0.498279	0.22737	N	0.056249	T	0.03608	0.0103	N	0.04768	-0.165	0.20307	N	0.999913	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.36601	-0.9741	10	0.02654	T	1	-2.821	4.3717	0.11251	0.442:0.0:0.4065:0.1515	.	114;165;198	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	K	165;198;114	ENSP00000407025:R165K;ENSP00000359904:R198K	ENSP00000359904:R198K	R	+	2	0	TYW3	75002198	0.944000	0.32072	0.111000	0.21465	0.169000	0.22640	0.618000	0.24373	-0.386000	0.07821	0.655000	0.94253	AGG		PASS	0.348	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		46	110	46	110	---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76384752	76384752	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:76384752T>G	ENST00000284142.6	-	3	912	c.773A>C	c.(772-774)cAt>cCt	p.H258P		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	258	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.H258P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TCTGCAAAGATGTAATAGTTC	0.348																																						uc001dhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(772-774)CAT>CCT		ankyrin repeat and SOCS box-containing 17							165.0	162.0	163.0					1																	76384752		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76384752T>G	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.773A>C	1.37:g.76384752T>G	ENSP00000284142:p.His258Pro					ASB17_uc001dhf.1_RNA	p.H258P	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			3	913	-			258			SOCS box.		B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.773A>C	CCDS671.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238812	0.58995	.	.	ENSG00000154007	ENST00000284142	T	0.58210	0.35	4.2	4.2	0.49525	SOCS protein, C-terminal (3);	0.000000	0.50627	D	0.000106	T	0.63450	0.2512	M	0.80183	2.485	0.36939	D	0.892265	D	0.69078	0.997	D	0.81914	0.995	T	0.70726	-0.4793	10	0.87932	D	0	.	9.9309	0.41521	0.0:0.0:0.0:1.0	.	258	Q8WXJ9	ASB17_HUMAN	P	258	ENSP00000284142:H258P	ENSP00000284142:H258P	H	-	2	0	ASB17	76157340	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.907000	0.56348	1.669000	0.50854	0.445000	0.29226	CAT		PASS	0.348	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		40	103	40	103	---	---	---	---
CLCA4	22802	broad.mit.edu	37	1	87041018	87041019	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:87041018_87041019GG>TT	ENST00000370563.3	+	11	1729_1730	c.1687_1688GG>TT	c.(1687-1689)GGc>TTc	p.G563F	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	563					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.G563F(1)|p.G563V(1)|p.G563C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTTTAGGTGGGCACTTGGGCA	0.356																																						uc009wcs.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1687-1689)GGC>TGC|c.(1687-1689)GGC>GTC		chloride channel accessory 4																																				SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87041018G>T|g.chr1:87041019G>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	Exception_encountered	1.37:g.87041018_87041019delinsTT	ENSP00000359594:p.Gly563Phe					CLCA4_uc009wct.2_Missense_Mutation_p.G326C|CLCA4_uc009wcu.2_Missense_Mutation_p.G383C|CLCA4_uc009wct.2_Missense_Mutation_p.G326V|CLCA4_uc009wcu.2_Missense_Mutation_p.G383V	p.G563C|p.G563V	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	11	1731|1732	+		Lung NSC(277;0.238)	563					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1687G>T|c.1688G>T	CCDS41355.1																																																																																				PASS	0.356	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		34|33	80|79	33	79	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103548429	103548429	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:103548429C>A	ENST00000370096.3	-	2	518	c.206G>T	c.(205-207)gGc>gTc	p.G69V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G69V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G69V|COL11A1_ENST00000358392.2_Missense_Mutation_p.G69V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	69					cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G69V(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGTATCTGAGCCTTTAGAATT	0.353																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(205-207)GGC>GTC		alpha 1 type XI collagen isoform A							143.0	143.0	143.0					1																	103548429		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548429C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.206G>T	1.37:g.103548429C>A	ENSP00000359114:p.Gly69Val					COL11A1_uc001dum.2_Missense_Mutation_p.G69V|COL11A1_uc001dun.2_Missense_Mutation_p.G69V|COL11A1_uc009weh.2_Missense_Mutation_p.G69V	p.G69V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	524	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	69			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.206G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088844	0.36855	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.89123	-2.41;-2.41;-2.43;-2.47;-2.12	5.7	2.78	0.32641	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.196147	0.36034	N	0.002832	T	0.82162	0.4977	L	0.52011	1.625	0.50171	D	0.999856	P;P;B;B	0.52061	0.856;0.95;0.384;0.265	B;P;B;B	0.47705	0.353;0.555;0.311;0.149	T	0.80638	-0.1293	10	0.44086	T	0.13	.	10.6578	0.45686	0.0:0.7868:0.0:0.2132	.	69;69;69;69	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	V	69	ENSP00000359114:G69V;ENSP00000351163:G69V;ENSP00000302551:G69V;ENSP00000426533:G69V;ENSP00000408640:G69V	ENSP00000302551:G69V	G	-	2	0	COL11A1	103321017	0.970000	0.33590	0.859000	0.33776	0.951000	0.60555	1.565000	0.36386	0.750000	0.32877	0.467000	0.42956	GGC		PASS	0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		57	184	57	184	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104114855	104114855	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:104114855G>T	ENST00000361355.4	+	4	908	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	98					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.V98L(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TAGAAACATGGTGACTAGATG	0.358																																						uc001duq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)GTG>TTG		amylase, pancreatic, alpha-2B precursor							116.0	124.0	121.0					1																	104114855		2203	4298	6501	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104114855G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.292G>T	1.37:g.104114855G>T	ENSP00000354610:p.Val98Leu					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.V98L	p.V98L	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	4	908	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	98					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.292G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118051	0.77323	.	.	ENSG00000240038	ENST00000361355	D	0.98329	-4.87	4.65	4.65	0.58169	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.118421	0.64402	N	0.000020	D	0.98232	0.9415	M	0.91140	3.18	0.58432	D	0.999995	P	0.44521	0.837	P	0.45343	0.477	D	0.99899	1.1157	10	0.87932	D	0	.	17.5357	0.87830	0.0:0.0:1.0:0.0	.	98	P19961	AMY2B_HUMAN	L	98	ENSP00000354610:V98L	ENSP00000354610:V98L	V	+	1	0	AMY2B	103916378	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.292000	0.78731	2.105000	0.64084	0.460000	0.39030	GTG		PASS	0.358	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		72	198	72	198	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114499410	114499410	+	Silent	SNP	T	T	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:114499410T>G	ENST00000369558.1	+	6	1801	c.1569T>G	c.(1567-1569)ctT>ctG	p.L523L	HIPK1_ENST00000369553.1_Silent_p.L129L|HIPK1_ENST00000340480.4_Silent_p.L149L|HIPK1_ENST00000406344.1_Silent_p.L129L|HIPK1_ENST00000426820.2_Silent_p.L523L|HIPK1_ENST00000369555.2_Silent_p.L523L|HIPK1_ENST00000369559.4_Silent_p.L523L|HIPK1_ENST00000369554.2_Silent_p.L523L|HIPK1_ENST00000369561.4_Silent_p.L523L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	523					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L523L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGACTCACCTTTTGGATTTTC	0.368																																						uc001eem.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(1567-1569)CTT>CTG		homeodomain-interacting protein kinase 1 isoform							98.0	99.0	99.0					1																	114499410		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499410T>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1569T>G	1.37:g.114499410T>G						HIPK1_uc001eel.2_Silent_p.L523L|HIPK1_uc001een.2_Silent_p.L523L|HIPK1_uc001eeo.2_Silent_p.L149L|HIPK1_uc001eep.2_Silent_p.L129L	p.L523L	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1730	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	523					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.1569T>G	CCDS867.1																																																																																				PASS	0.368	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		13	183	13	183	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120512258	120512258	+	Silent	SNP	G	G	A	rs187598092		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:120512258G>A	ENST00000256646.2	-	6	1203	c.984C>T	c.(982-984)aaC>aaT	p.N328N		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	328	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.N328N(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTCCAGCCGTTGACACATA	0.557			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		20470	0.001		0.0	False		,,,				2504	0.0					uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - coding silent(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(982-984)AAC>AAT		notch 2 preproprotein							155.0	109.0	125.0					1																	120512258		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120512258G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.984C>T	1.37:g.120512258G>A						NOTCH2_uc001eil.2_Silent_p.N328N|NOTCH2_uc001eim.3_Silent_p.N245N	p.N328N	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1240	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	328			Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.984C>T	CCDS908.1																																																																																				PASS	0.557	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		23	44	23	44	---	---	---	---
HIST2H3D	653604	broad.mit.edu	37	1	149785117	149785117	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:149785117G>C	ENST00000331491.1	-	1	119	c.120C>G	c.(118-120)caC>caG	p.H40Q	HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	40					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H40Q(1)		biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCCGGTAGCGGTGCGGCTTCT	0.711																																						uc010pbl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)CAC>CAG		histone cluster 2, H3d							16.0	19.0	18.0					1																	149785117		1497	3456	4953	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785117G>C	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.120C>G	1.37:g.149785117G>C	ENSP00000333277:p.His40Gln					HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	p.H40Q	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			1	120	-			40					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.120C>G	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187591	0.38609	.	.	ENSG00000183598	ENST00000331491	T	0.42513	0.97	4.1	2.22	0.28083	.	0.000000	0.56097	U	0.000023	T	0.38852	0.1056	.	.	.	0.48830	D	0.999715	.	.	.	.	.	.	T	0.37337	-0.9710	7	0.87932	D	0	.	9.3629	0.38206	0.1803:0.0:0.8197:0.0	.	.	.	.	Q	40	ENSP00000333277:H40Q	ENSP00000333277:H40Q	H	-	3	2	HIST2H3D	148051741	0.034000	0.19679	1.000000	0.80357	0.941000	0.58515	-0.207000	0.09384	0.516000	0.28340	-0.441000	0.05720	CAC		PASS	0.711	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		6	31	6	31	---	---	---	---
MEF2D	4209	broad.mit.edu	37	1	156452388	156452388	+	Silent	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:156452388A>G	ENST00000348159.4	-	3	579	c.99T>C	c.(97-99)taT>taC	p.Y33Y	MEF2D_ENST00000353795.3_Silent_p.Y33Y|Y_RNA_ENST00000383924.1_RNA|MEF2D_ENST00000360595.3_Silent_p.Y33Y|MEF2D_ENST00000464356.2_Silent_p.Y33Y|MEF2D_ENST00000368240.2_Silent_p.Y33Y|MEF2D_ENST00000340875.5_Silent_p.Y33Y	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	33	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y33Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCTCAGCTCATACGCCTTCT	0.547																																						uc001fpc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(97-99)TAT>TAC		myocyte enhancer factor 2D							296.0	244.0	261.0					1																	156452388		2203	4300	6503	SO:0001819	synonymous_variant	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156452388A>G	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.99T>C	1.37:g.156452388A>G						MEF2D_uc001fpb.2_Silent_p.Y33Y|MEF2D_uc001fpd.2_Silent_p.Y33Y|MEF2D_uc001fpe.1_Silent_p.Y33Y|MEF2D_uc009wsa.2_RNA	p.Y33Y	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			3	489	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		33			MADS-box.		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	c.99T>C	CCDS1143.1																																																																																				PASS	0.547	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		53	182	53	182	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157514060	157514060	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:157514060T>G	ENST00000361835.3	-	5	993	c.836A>C	c.(835-837)cAg>cCg	p.Q279P	FCRL5_ENST00000368189.3_Missense_Mutation_p.Q279P|FCRL5_ENST00000368190.3_Missense_Mutation_p.Q279P|FCRL5_ENST00000356953.4_Missense_Mutation_p.Q279P|FCRL5_ENST00000368191.3_Missense_Mutation_p.Q194P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	279					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.Q279P(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTCTGCACCTGTATCCAGGA	0.507																																						uc001fqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(835-837)CAG>CCG		Fc receptor-like 5							133.0	130.0	131.0					1																	157514060		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514060T>G	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.836A>C	1.37:g.157514060T>G	ENSP00000354691:p.Gln279Pro					FCRL5_uc009wsm.2_Missense_Mutation_p.Q279P|FCRL5_uc010phv.1_Missense_Mutation_p.Q279P|FCRL5_uc010phw.1_Missense_Mutation_p.Q194P|FCRL5_uc001fqv.1_Missense_Mutation_p.Q279P|FCRL5_uc010phx.1_Missense_Mutation_p.Q30P	p.Q279P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			5	994	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	279			Extracellular (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.836A>C	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	7.262	0.605473	0.14002	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.49139	0.81;0.82;0.79;1.05;1.08	4.06	-8.12	0.01078	.	.	.	.	.	T	0.13415	0.0325	L	0.49350	1.555	0.09310	N	1	B;B;B;B;B;B	0.26081	0.141;0.032;0.032;0.037;0.002;0.002	B;B;B;B;B;B	0.25759	0.034;0.024;0.063;0.033;0.004;0.001	T	0.02950	-1.1090	9	0.35671	T	0.21	.	5.5823	0.17256	0.1076:0.1651:0.5638:0.1635	.	310;194;279;279;279;279	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	P	279;279;279;194;279	ENSP00000354691:Q279P;ENSP00000349434:Q279P;ENSP00000357173:Q279P;ENSP00000357174:Q194P;ENSP00000357172:Q279P	ENSP00000349434:Q279P	Q	-	2	0	FCRL5	155780684	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.012000	0.01451	-2.728000	0.00385	-0.376000	0.06991	CAG		PASS	0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		88	282	88	282	---	---	---	---
USP21	27005	broad.mit.edu	37	1	161133756	161133756	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:161133756C>T	ENST00000289865.8	+	8	1424	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	PPOX_ENST00000367999.4_5'Flank|PPOX_ENST00000352210.5_5'Flank|USP21_ENST00000368001.1_Silent_p.S401S|USP21_ENST00000368002.3_Silent_p.S401S|PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000493054.1_Intron|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	401	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S401S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGACCTGTCCCTGCCCATCC	0.592																																						uc010pke.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(1201-1203)TCC>TCT		ubiquitin-specific protease 21							97.0	89.0	92.0					1																	161133756		2203	4300	6503	SO:0001819	synonymous_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161133756C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1203C>T	1.37:g.161133756C>T						USP21_uc010pkc.1_Silent_p.S401S|USP21_uc010pkd.1_Silent_p.S401S|USP21_uc010pkf.1_Silent_p.S401S|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	p.S401S	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	1580	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		401					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	37	c.1203C>T	CCDS30920.1																																																																																				PASS	0.592	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			62	92	62	92	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097643	167097643	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:167097643T>C	ENST00000361200.2	+	6	3441	c.3275T>C	c.(3274-3276)tTt>tCt	p.F1092S	DUSP27_ENST00000443333.1_Missense_Mutation_p.F1092S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.F1092S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1092					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F1092S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACCCAGAGCTTTATGAGGTCT	0.517																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3274-3276)TTT>TCT		dual specificity phosphatase 27							37.0	36.0	37.0					1																	167097643		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097643T>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3275T>C	1.37:g.167097643T>C	ENSP00000354483:p.Phe1092Ser						p.F1092S	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3275	+			1092					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3275T>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325966	0.60743	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04603	3.59;3.59;3.59	5.29	5.29	0.74685	.	0.000000	0.52532	D	0.000061	T	0.04227	0.0117	M	0.63428	1.95	0.39442	D	0.967269	P	0.37330	0.59	B	0.37198	0.243	T	0.13176	-1.0519	10	0.87932	D	0	-27.8762	15.2229	0.73327	0.0:0.0:0.0:1.0	.	1092	Q5VZP5	DUS27_HUMAN	S	1092	ENSP00000354483:F1092S;ENSP00000271385:F1092S;ENSP00000404874:F1092S	ENSP00000271385:F1092S	F	+	2	0	DUSP27	165364267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.719000	0.54926	1.992000	0.58205	0.448000	0.29417	TTT		PASS	0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		26	28	26	28	---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173878825	173878825	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:173878825G>A	ENST00000367698.3	-	5	1136	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	340					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L340L(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	AATTCATCCAGCCACTCTTGC	0.552																																						uc001gjt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1018-1020)CTG>TTG		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						166.0	162.0	163.0					1																	173878825		2203	4300	6503	SO:0001819	synonymous_variant	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878825G>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1018C>T	1.37:g.173878825G>A							p.L340L	NM_000488	NP_000479	P01008	ANT3_HUMAN			5	1137	-			340					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Silent	SNP	ENST00000367698.3	37	c.1018C>T	CCDS1313.1																																																																																				PASS	0.552	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		72	151	72	151	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175049472	175049472	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:175049472G>T	ENST00000239462.4	+	4	1071	c.958G>T	c.(958-960)Ggt>Tgt	p.G320C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	320	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.G320C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGAGATTCTTGGTTTGCTGCC	0.537																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(958-960)GGT>TGT		tenascin N precursor							122.0	115.0	117.0					1																	175049472		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049472G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.958G>T	1.37:g.175049472G>T	ENSP00000239462:p.Gly320Cys					TNN_uc010pmx.1_Missense_Mutation_p.G320C	p.G320C	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	1071	+		Breast(1374;0.000962)	320			Fibronectin type-III 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.958G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642668	0.29246	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.59772	0.24	5.69	2.81	0.32909	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.098718	0.64402	D	0.000001	T	0.77579	0.4151	M	0.89715	3.055	0.09310	N	1	D;D	0.71674	0.998;0.992	D;D	0.77557	0.99;0.933	T	0.69551	-0.5115	10	0.87932	D	0	.	11.063	0.47959	0.2056:0.0:0.7944:0.0	.	320;320	B3KXB6;Q9UQP3	.;TENN_HUMAN	C	320	ENSP00000239462:G320C	ENSP00000239462:G320C	G	+	1	0	TNN	173316095	0.996000	0.38824	0.001000	0.08648	0.022000	0.10575	3.422000	0.52749	0.767000	0.33267	-0.143000	0.13931	GGT		PASS	0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		31	116	31	116	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176998800	176998800	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:176998800C>T	ENST00000367654.3	-	5	1301	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	ASTN1_ENST00000361833.2_Missense_Mutation_p.D364N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D364N|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000367657.3_Missense_Mutation_p.D364N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	364					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D364N(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTGAAGGATCCGTGTAAAAG	0.547																																						uc001glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1090-1092)GAT>AAT		astrotactin isoform 1							69.0	65.0	67.0					1																	176998800		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176998800C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1090G>A	1.37:g.176998800C>T	ENSP00000356626:p.Asp364Asn					ASTN1_uc001glb.1_Missense_Mutation_p.D364N|ASTN1_uc001gld.1_Missense_Mutation_p.D364N|ASTN1_uc009wwx.1_Missense_Mutation_p.D364N|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	p.D364N	NM_004319	NP_004310	O14525	ASTN1_HUMAN			5	1302	-			364					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1090G>A		.	.	.	.	.	.	.	.	.	.	C	26.4	4.738392	0.89573	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16073	2.37;2.79;2.79;2.37	5.03	5.03	0.67393	.	0.045208	0.85682	D	0.000000	T	0.31040	0.0784	L	0.27053	0.805	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.76071	0.987;0.987;0.987	T	0.06607	-1.0817	10	0.56958	D	0.05	-27.1548	18.3563	0.90358	0.0:1.0:0.0:0.0	.	364;364;364	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	364	ENSP00000356629:D364N;ENSP00000354536:D364N;ENSP00000356626:D364N;ENSP00000395041:D364N	ENSP00000354536:D364N	D	-	1	0	ASTN1	175265423	1.000000	0.71417	0.206000	0.23566	0.743000	0.42351	7.061000	0.76699	2.469000	0.83416	0.650000	0.86243	GAT		PASS	0.547	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		18	59	18	59	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179609057	179609058	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:179609057_179609058GG>AT	ENST00000367614.1	+	10	1963_1964	c.1604_1605GG>AT	c.(1603-1605)aGG>aAT	p.R535N	TDRD5_ENST00000294848.8_Missense_Mutation_p.R535N|TDRD5_ENST00000444136.1_Missense_Mutation_p.R535N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	535	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.R535N(1)|p.R535S(1)|p.R535K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTTGTGTAAGGATTTCTGAGG	0.416																																						uc001gnf.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1603-1605)AGG>AAG|c.(1603-1605)AGG>AGT		tudor domain containing 5																																				SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179609057G>A|g.chr1:179609058G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	Exception_encountered	1.37:g.179609057_179609058delinsAT	ENSP00000356586:p.Arg535Asn					TDRD5_uc010pnp.1_Missense_Mutation_p.R535K|TDRD5_uc001gnh.1_Missense_Mutation_p.R90K|TDRD5_uc010pnp.1_Missense_Mutation_p.R535S|TDRD5_uc001gnh.1_Missense_Mutation_p.R90S	p.R535K|p.R535S	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			10	1854|1855	+			535			Tudor.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1604G>A|c.1605G>T	CCDS1332.1																																																																																				PASS	0.416	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		85	303|302	85	302	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181708377	181708377	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:181708377C>T	ENST00000367573.2	+	25	3707	c.3707C>T	c.(3706-3708)gCc>gTc	p.A1236V	CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1187V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1217V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A843V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1236V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1168V|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A1217V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1236					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.A1236V(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCATTGGTGGCCTTTGCTCTG	0.498																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3706-3708)GCC>GTC		calcium channel, voltage-dependent, R type,							346.0	357.0	353.0					1																	181708377		2127	4236	6363	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181708377C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3707C>T	1.37:g.181708377C>T	ENSP00000356545:p.Ala1236Val					CACNA1E_uc009wxs.2_Missense_Mutation_p.A1124V|CACNA1E_uc001gox.1_Missense_Mutation_p.A462V|CACNA1E_uc009wxt.2_Missense_Mutation_p.A462V	p.A1236V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			25	3872	+			1236			III.|Helical; Name=S3 of repeat III.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3707C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205825	0.95033	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	5.01	5.01	0.66863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.67625	2.065	0.80722	D	1	D;P;D	0.67145	0.996;0.875;0.996	D;P;D	0.77557	0.92;0.841;0.99	D	0.99890	1.1132	10	0.87932	D	0	.	18.2808	0.90097	0.0:1.0:0.0:0.0	.	1217;1236;1236	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	V	1236;1217;1187;1168;843;1217;1236	ENSP00000356542:A1236V;ENSP00000434814:A1217V;ENSP00000350183:A1187V;ENSP00000351101:A1168V;ENSP00000356539:A843V;ENSP00000353222:A1217V;ENSP00000356545:A1236V	ENSP00000350183:A1187V	A	+	2	0	CACNA1E	179975000	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.669000	0.83911	2.475000	0.83589	0.561000	0.74099	GCC		PASS	0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		121	156	121	156	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183204853	183204853	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:183204853G>T	ENST00000264144.4	+	16	2509	c.2444G>T	c.(2443-2445)gGg>gTg	p.G815V	LAMC2_ENST00000493293.1_Missense_Mutation_p.G815V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	815	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.G815V(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GTGGTGCAAGGGCTTGTGGAA	0.562											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gqa.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2443-2445)GGG>GTG		laminin, gamma 2 isoform a precursor							80.0	76.0	77.0					1																	183204853		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183204853G>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2444G>T	1.37:g.183204853G>T	ENSP00000264144:p.Gly815Val		OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1982	LAMC2_uc001gpz.3_Missense_Mutation_p.G815V|LAMC2_uc010poa.1_Missense_Mutation_p.G515V	p.G815V	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			16	2758	+			815			Potential.|Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2444G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275301	0.23307	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.17370	2.43;2.28	5.84	2.94	0.34122	.	0.219539	0.39834	N	0.001248	T	0.23926	0.0579	L	0.54323	1.7	0.80722	D	1	P;P;P	0.49783	0.808;0.808;0.928	B;B;P	0.52343	0.186;0.186;0.696	T	0.01111	-1.1448	10	0.37606	T	0.19	.	8.8348	0.35107	0.2389:0.0:0.7611:0.0	.	815;815;815	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	V	815	ENSP00000432063:G815V;ENSP00000264144:G815V	ENSP00000264144:G815V	G	+	2	0	LAMC2	181471476	1.000000	0.71417	0.680000	0.29994	0.031000	0.12232	1.187000	0.32090	0.799000	0.34018	0.650000	0.86243	GGG		PASS	0.562	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		10	57	10	57	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186303599	186303599	+	Silent	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:186303599T>C	ENST00000367478.4	-	36	5336	c.5040A>G	c.(5038-5040)aaA>aaG	p.K1680K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1680					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.K1681K(1)|p.K1680K(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCTGTCACTTTACTTGGAG	0.448			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(5038-5040)AAA>AAG		nuclear pore complex-associated protein TPR							155.0	160.0	158.0					1																	186303599		1968	4149	6117	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186303599T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5040A>G	1.37:g.186303599T>C							p.K1680K	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	36	5337	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1680					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.5040A>G	CCDS41446.1																																																																																				PASS	0.448	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		34	99	34	99	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186957570	186957570	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:186957570C>G	ENST00000367466.3	+	18	2332	c.2180C>G	c.(2179-2181)tCt>tGt	p.S727C	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.S667C	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	727	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.S727C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TCTCGTTGCTCTGTTTCCCTT	0.383																																						uc001gsc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(2179-2181)TCT>TGT		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						120.0	118.0	119.0					1																	186957570		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186957570C>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.2180C>G	1.37:g.186957570C>G	ENSP00000356436:p.Ser727Cys					PLA2G4A_uc010pos.1_Missense_Mutation_p.S667C	p.S727C	NM_024420	NP_077734	P47712	PA24A_HUMAN			18	2385	+			727			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.2180C>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550760	0.86127	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.02121	4.6;4.44	5.75	5.75	0.90469	Lysophospholipase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.60455	1.87	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.953	T	0.00104	-1.2059	10	0.87932	D	0	-25.8172	19.0011	0.92834	0.0:1.0:0.0:0.0	.	667;727	E7EU42;P47712	.;PA24A_HUMAN	C	727;667	ENSP00000356436:S727C;ENSP00000406892:S667C	ENSP00000356436:S727C	S	+	2	0	PLA2G4A	185224193	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.839000	0.75364	2.728000	0.93425	0.551000	0.68910	TCT		PASS	0.383	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		32	122	32	122	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197086919	197086919	+	Splice_Site	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:197086919C>T	ENST00000367409.4	-	17	4321	c.4065G>A	c.(4063-4065)caG>caA	p.Q1355Q	ASPM_ENST00000367408.1_Splice_Site_p.Q605Q|ASPM_ENST00000294732.7_Splice_Site_p.Q1355Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1355	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q1355Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATACTATACCTGAATAAGTG	0.269																																						uc001gtu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(4063-4065)CAG>CAA		asp (abnormal spindle)-like, microcephaly							88.0	97.0	94.0					1																	197086919		2202	4297	6499	SO:0001630	splice_region_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197086919C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4065+1G>A	1.37:g.197086919C>T						ASPM_uc001gtv.2_Silent_p.Q1355Q|ASPM_uc001gtw.3_Intron	p.Q1355Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			17	4322	-			1355			IQ 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.4065G>A	CCDS1389.1																																																																																				PASS	0.269	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	Silent	24	126	24	126	---	---	---	---
MTR	4548	broad.mit.edu	37	1	236976069	236976069	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:236976069G>A	ENST00000366577.5	+	6	928	c.534G>A	c.(532-534)gaG>gaA	p.E178E	MTR_ENST00000535889.1_Silent_p.E178E|MTR_ENST00000418145.2_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	178	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.E178E(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CATACCAAGAGCAGGCCAAAG	0.428																																						uc001hyi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(532-534)GAG>GAA		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						186.0	174.0	178.0					1																	236976069		2203	4300	6503	SO:0001819	synonymous_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236976069G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.534G>A	1.37:g.236976069G>A						MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Silent_p.E178E|MTR_uc010pxy.1_Silent_p.E178E|MTR_uc009xgj.1_Missense_Mutation_p.S9N	p.E178E	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	6	957	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	178			Hcy-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	c.534G>A	CCDS1614.1																																																																																				PASS	0.428	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		50	134	50	134	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370927	240370927	+	Missense_Mutation	SNP	G	G	A	rs71170718|rs562038978		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:240370927G>A	ENST00000319653.9	+	5	3045	c.2815G>A	c.(2815-2817)Gga>Aga	p.G939R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	939	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGAAT	0.697																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2815-2817)GGA>AGA		formin 2							27.0	33.0	31.0					1																	240370927		2202	4297	6499	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370927G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2815G>A	1.37:g.240370927G>A	ENSP00000318884:p.Gly939Arg					FMN2_uc010pye.1_Missense_Mutation_p.G943R	p.G939R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3040	+	Ovarian(103;0.127)	all_cancers(173;0.013)	939			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2815G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010235	0.19277	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	3.56	-0.609	0.11608	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	11.583100	0.03641	U	0.239455	T	0.76737	0.4029	M	0.88377	2.95	0.09310	N	1	D	0.61080	0.989	P	0.51453	0.67	T	0.60094	-0.7330	9	.	.	.	.	4.5862	0.12284	0.3219:0.0:0.5353:0.1428	.	939	Q9NZ56	FMN2_HUMAN	R	939	ENSP00000318884:G939R	.	G	+	1	0	FMN2	238437550	0.021000	0.18746	0.000000	0.03702	0.014000	0.08584	1.097000	0.30988	-0.088000	0.12506	0.479000	0.44913	GGA		PASS	0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		35	28	35	28	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004991	248004992	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:248004991_248004992CC>AA	ENST00000355784.2	-	1	262_263	c.207_208GG>TT	c.(205-210)ctGGag>ctTTag	p.E70*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	70						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E70*(2)|p.L69L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TACCAGACCTCCAGAAAGGAGA	0.564																																						uc001idn.1																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|pancreas(1)|skin(1)	3						c.(208-210)GAG>TAG|c.(205-207)CTG>CTT		olfactory receptor, family 11, subfamily L,																																				SO:0001587	stop_gained	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004991C>A|g.chr1:248004992C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.207_208delinsAA	1.37:g.248004991_248004992delinsAA	ENSP00000348033:p.Glu70*						p.E70*|p.L69L	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	208|207	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		70|69			Helical; Name=2; (Potential).			Nonsense_Mutation|Silent	SNP	ENST00000355784.2	37	c.208G>T|c.207G>T	CCDS31098.1																																																																																				PASS	0.564	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		23	26|25	23	25	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436163	248436163	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:248436163C>A	ENST00000318021.2	-	1	975	c.954G>T	c.(952-954)agG>agT	p.R318S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R318S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ATCATCTTGACCTGTGGGCCT	0.403																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(952-954)AGG>AGT		olfactory receptor, family 2, subfamily T,							134.0	136.0	136.0					1																	248436163		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436163C>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.954G>T	1.37:g.248436163C>A	ENSP00000324687:p.Arg318Ser						p.R318S	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	954	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		318			Cytoplasmic (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.954G>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	4.030	0.003050	0.07866	.	.	ENSG00000177212	ENST00000318021	T	0.00614	6.21	1.54	-1.36	0.09085	.	.	.	.	.	T	0.00468	0.0015	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43245	-0.9403	9	0.28530	T	0.3	.	2.384	0.04361	0.4388:0.2874:0.0:0.2738	.	318	Q8NG76	O2T33_HUMAN	S	318	ENSP00000324687:R318S	ENSP00000324687:R318S	R	-	3	2	OR2T33	246502786	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-4.500000	0.00224	-0.356000	0.08187	-1.176000	0.01726	AGG		PASS	0.403	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		6	256	6	256	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9508556	9508556	+	Silent	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:9508556C>A	ENST00000281419.3	+	16	1804	c.1464C>A	c.(1462-1464)ctC>ctA	p.L488L	ASAP2_ENST00000315273.4_Silent_p.L488L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	488	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.L488L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TTTTGCAGCTCGCCAAGAATA	0.408																																						uc002qzh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1462-1464)CTC>CTA		ArfGAP with SH3 domain, ankyrin repeat and PH							80.0	78.0	79.0					2																	9508556		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9508556C>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1464C>A	2.37:g.9508556C>A						ASAP2_uc002qzi.2_Silent_p.L488L	p.L488L	NM_003887	NP_003878	O43150	ASAP2_HUMAN			16	1804	+			488			Arf-GAP.		D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.1464C>A	CCDS1661.1																																																																																				PASS	0.408	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		23	54	23	54	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15557812	15557812	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:15557812G>C	ENST00000281513.5	-	24	2627	c.2602C>G	c.(2602-2604)Cga>Gga	p.R868G	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	868					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R868G(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCCCAAGTCGAATAAGTGAC	0.378																																						uc002rcc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(2602-2604)CGA>GGA		neuroblastoma-amplified protein							80.0	73.0	75.0					2																	15557812		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15557812G>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2602C>G	2.37:g.15557812G>C	ENSP00000281513:p.Arg868Gly					NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_RNA	p.R868G	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			24	2628	-			868					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2602C>G	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246603	0.80024	.	.	ENSG00000151779	ENST00000281513	T	0.16743	2.32	5.72	4.82	0.62117	Secretory pathway Sec39 (1);	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.33599	-0.9862	10	0.87932	D	0	.	15.9309	0.79659	0.0:0.0:0.8638:0.1362	.	868	A2RRP1	NBAS_HUMAN	G	868	ENSP00000281513:R868G	ENSP00000281513:R868G	R	-	1	2	NBAS	15475263	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	7.411000	0.80078	1.390000	0.46547	0.585000	0.79938	CGA		PASS	0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		16	60	16	60	---	---	---	---
KIAA1841	84542	broad.mit.edu	37	2	61333770	61333771	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:61333770_61333771GG>CT	ENST00000402291.1	+	14	1825_1826	c.1584_1585GG>CT	c.(1582-1587)tgGGgt>tgCTgt	p.528_529WG>CC	KIAA1841_ENST00000356719.2_Missense_Mutation_p.528_529WG>CC|KIAA1841_ENST00000295031.5_Missense_Mutation_p.528_529WG>CC|KIAA1841_ENST00000453873.1_Missense_Mutation_p.528_529WG>CC	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	528								p.W528C(2)|p.W528_G529>CC(2)|p.G529C(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATACACCATGGGGTCCCAAAAC	0.366																																						uc002saw.3																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)		0						c.(1582-1584)TGG>TGC|c.(1585-1587)GGT>TGT		KIAA1841 protein isoform a																																				SO:0001583	missense	84542							g.chr2:61333770G>C|g.chr2:61333771G>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	Exception_encountered	2.37:g.61333770_61333771delinsCT	ENSP00000385579:p.W528_G529delinsCC					KIAA1841_uc002sax.3_Missense_Mutation_p.W382C|KIAA1841_uc002say.2_Missense_Mutation_p.W528C|KIAA1841_uc002sax.3_Missense_Mutation_p.G383C|KIAA1841_uc002say.2_Missense_Mutation_p.G529C	p.W528C|p.G529C	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		14	1887|1888	+			528|529					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1584G>C|c.1585G>T	CCDS46296.1																																																																																				PASS	0.366	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		25|24	94|92	24	92	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63631451	63631451	+	Silent	SNP	A	A	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:63631451A>C	ENST00000272321.7	-	10	1694	c.1167T>G	c.(1165-1167)ggT>ggG	p.G389G	WDPCP_ENST00000409199.1_Silent_p.G197G|WDPCP_ENST00000409120.1_Silent_p.G197G|WDPCP_ENST00000398544.3_Silent_p.G230G|WDPCP_ENST00000409562.3_Silent_p.G389G|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	389					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.G389G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GCAGAATGGCACCACTTGGGT	0.443																																						uc002sch.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1165-1167)GGT>GGG		hypothetical protein LOC51057 isoform 2							77.0	74.0	75.0					2																	63631451		1875	4109	5984	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631451A>C		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1167T>G	2.37:g.63631451A>C						C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.G230G|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.G197G|C2orf86_uc002sci.1_Silent_p.G365G|C2orf86_uc010fcr.1_Silent_p.G279G	p.G389G	NM_015910	NP_056994	O95876	FRITZ_HUMAN			10	1613	-			389			WD 2.		Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.1167T>G	CCDS42688.1																																																																																				PASS	0.443	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		8	199	8	199	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71740924	71740924	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:71740924G>C	ENST00000258104.3	+	6	813	c.536G>C	c.(535-537)gGc>gCc	p.G179A	DYSF_ENST00000409582.3_Missense_Mutation_p.G210A|DYSF_ENST00000409366.1_Missense_Mutation_p.G180A|DYSF_ENST00000409762.1_Missense_Mutation_p.G210A|DYSF_ENST00000409744.1_Missense_Mutation_p.G180A|DYSF_ENST00000409651.1_Missense_Mutation_p.G211A|DYSF_ENST00000394120.2_Missense_Mutation_p.G180A|DYSF_ENST00000413539.2_Missense_Mutation_p.G210A|DYSF_ENST00000429174.2_Missense_Mutation_p.G179A|DYSF_ENST00000410041.1_Missense_Mutation_p.G211A|DYSF_ENST00000410020.3_Missense_Mutation_p.G211A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	179					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.G179A(1)|p.G211A(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAAAGCGGAGGCCCGGGGGCT	0.587																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(535-537)GGC>GCC		dysferlin isoform 8							50.0	51.0	51.0					2																	71740924		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71740924G>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.536G>C	2.37:g.71740924G>C	ENSP00000258104:p.Gly179Ala					DYSF_uc010feg.2_Missense_Mutation_p.G210A|DYSF_uc010feh.2_Missense_Mutation_p.G179A|DYSF_uc002sig.3_Missense_Mutation_p.G179A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G179A|DYSF_uc010fef.2_Missense_Mutation_p.G210A|DYSF_uc010fei.2_Missense_Mutation_p.G210A|DYSF_uc010fek.2_Missense_Mutation_p.G211A|DYSF_uc010fej.2_Missense_Mutation_p.G180A|DYSF_uc010fel.2_Missense_Mutation_p.G180A|DYSF_uc010feo.2_Missense_Mutation_p.G211A|DYSF_uc010fem.2_Missense_Mutation_p.G180A|DYSF_uc010fen.2_Missense_Mutation_p.G211A|DYSF_uc002sif.2_Missense_Mutation_p.G180A	p.G179A	NM_003494	NP_003485	O75923	DYSF_HUMAN			6	912	+			179			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.536G>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	7.151	0.583823	0.13749	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.6;-1.6;-1.6;-1.6;-1.61;-1.6;-1.6;-1.6;-1.61;-1.6	3.88	3.0	0.34707	.	0.208186	0.39475	N	0.001344	T	0.75191	0.3816	L	0.46614	1.455	0.27797	N	0.942606	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24823	0.112;0.112;0.063;0.0;0.002;0.002;0.002;0.001;0.112;0.101;0.064;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31946	0.138;0.138;0.087;0.005;0.008;0.005;0.005;0.007;0.087;0.087;0.1;0.005;0.005;0.002	T	0.60786	-0.7194	10	0.18710	T	0.47	-17.7834	7.5346	0.27702	0.1149:0.0:0.8851:0.0	.	211;211;180;180;211;180;210;179;210;210;179;179;180;179	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	A	210;210;210;179;179;211;180;180;180;211;211	ENSP00000407046:G210A;ENSP00000387137:G210A;ENSP00000386547:G210A;ENSP00000398305:G179A;ENSP00000258104:G179A;ENSP00000386683:G211A;ENSP00000377678:G180A;ENSP00000386285:G180A;ENSP00000386512:G180A;ENSP00000386881:G211A;ENSP00000386617:G211A	ENSP00000258104:G179A	G	+	2	0	DYSF	71594432	0.994000	0.37717	0.285000	0.24819	0.113000	0.19764	2.242000	0.43106	1.223000	0.43536	0.549000	0.68633	GGC		PASS	0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		21	32	21	32	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74605138	74605138	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:74605138G>A	ENST00000361874.3	-	2	585	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	DCTN1_ENST00000394003.3_Missense_Mutation_p.R90C|DCTN1_ENST00000409240.1_Missense_Mutation_p.R73C|DCTN1_ENST00000409868.1_Missense_Mutation_p.R73C|DCTN1_ENST00000409567.3_Missense_Mutation_p.R90C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	90	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.R90C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGGGACTGGCGCACAAAGATG	0.488																																						uc002skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(268-270)CGC>TGC		dynactin 1 isoform 1							188.0	147.0	161.0					2																	74605138		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74605138G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.268C>T	2.37:g.74605138G>A	ENSP00000354791:p.Arg90Cys					DCTN1_uc002skw.1_Missense_Mutation_p.R73C|DCTN1_uc010ffd.2_Missense_Mutation_p.R90C|DCTN1_uc002sky.2_Missense_Mutation_p.R73C	p.R90C	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			2	579	-			90			CAP-Gly.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.268C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254255	0.80135	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090;ENST00000437375;ENST00000413111;ENST00000421392	T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.22	5.22	0.72569	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.43260	D	0.000581	D	0.93281	0.7859	H	0.98849	4.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.997;0.976	D	0.96028	0.9014	10	0.87932	D	0	-6.0535	17.5394	0.87843	0.0:0.0:1.0:0.0	.	90;73;90;90	E9PGE1;E9PFS5;Q14203;A8MY36	.;.;DCTN1_HUMAN;.	C	90;90;73;73;73;90;97;73;94;73;73;73	ENSP00000354791:R90C;ENSP00000377571:R90C;ENSP00000386406:R73C;ENSP00000387327:R73C;ENSP00000386843:R90C;ENSP00000414315:R97C;ENSP00000404038:R73C;ENSP00000402509:R94C;ENSP00000395312:R73C;ENSP00000413268:R73C;ENSP00000409363:R73C	ENSP00000354791:R90C	R	-	1	0	DCTN1	74458646	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.902000	0.48703	2.428000	0.82296	0.650000	0.86243	CGC		PASS	0.488	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		6	58	6	58	---	---	---	---
GCFC2	6936	broad.mit.edu	37	2	75917778	75917778	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:75917778C>G	ENST00000321027.3	-	8	1345	c.1212G>C	c.(1210-1212)gaG>gaC	p.E404D	GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.E366D|MRPL19_ENST00000358788.6_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	404					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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)	p.E404D(1)									GAGATTCAATCTCTTCTAAAA	0.313																																						uc002sno.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1210-1212)GAG>GAC		hypothetical protein LOC6936							84.0	92.0	89.0					2																	75917778		2203	4295	6498	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75917778C>G	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1212G>C	2.37:g.75917778C>G	ENSP00000318690:p.Glu404Asp					C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.E235D|C2orf3_uc010fft.2_Missense_Mutation_p.E79D	p.E404D	NM_003203	NP_003194	P16383	GCF_HUMAN			8	1342	-			404					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.1212G>C	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202371	0.58234	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.19394	2.15;2.16	4.62	0.707	0.18139	.	0.732939	0.13696	N	0.369192	T	0.28234	0.0697	M	0.69823	2.125	0.80722	D	1	D	0.58268	0.982	P	0.53006	0.715	T	0.19095	-1.0316	10	0.24483	T	0.36	-14.3149	4.9477	0.13999	0.1487:0.5933:0.0:0.2581	.	404	P16383	GCF_HUMAN	D	404;366	ENSP00000318690:E404D;ENSP00000386552:E366D	ENSP00000318690:E404D	E	-	3	2	C2orf3	75771286	0.959000	0.32827	0.995000	0.50966	0.997000	0.91878	-0.084000	0.11268	0.001000	0.14605	0.555000	0.69702	GAG		PASS	0.313	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		9	213	9	213	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109381112	109381112	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:109381112G>C	ENST00000283195.6	+	20	4243	c.4117G>C	c.(4117-4119)Gta>Cta	p.V1373L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1373					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V1373L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAAGAAATGTGTATCATGCCA	0.398																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(4117-4119)GTA>CTA		RAN binding protein 2							90.0	91.0	91.0					2																	109381112		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109381112G>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4117G>C	2.37:g.109381112G>C	ENSP00000283195:p.Val1373Leu						p.V1373L	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	4243	+			1373			RanBP2-type 1.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.4117G>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311702	0.60414	.	.	ENSG00000153201	ENST00000283195	T	0.56941	0.43	5.48	3.68	0.42216	Zinc finger, RanBP2-type (4);	.	.	.	.	T	0.50837	0.1639	L	0.58428	1.81	0.23624	N	0.99727	P	0.41710	0.76	B	0.41440	0.357	T	0.34129	-0.9841	9	0.39692	T	0.17	-13.2701	11.6257	0.51145	0.1455:0.0:0.8545:0.0	.	1373	P49792	RBP2_HUMAN	L	1373	ENSP00000283195:V1373L	ENSP00000283195:V1373L	V	+	1	0	RANBP2	108747544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.388000	0.34442	0.671000	0.31185	0.655000	0.94253	GTA		PASS	0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		64	204	64	204	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116538554	116538554	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:116538554T>A	ENST00000410059.1	+	16	1946	c.1466T>A	c.(1465-1467)tTc>tAc	p.F489Y	DPP10_ENST00000409163.1_Missense_Mutation_p.F439Y|DPP10_ENST00000393147.2_Missense_Mutation_p.F493Y|DPP10_ENST00000310323.8_Missense_Mutation_p.F482Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	489						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.F482Y(1)|p.F489Y(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATCAACATTTCTTATTATTC	0.289																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1465-1467)TTC>TAC		dipeptidyl peptidase 10 isoform long							90.0	86.0	88.0					2																	116538554		2202	4293	6495	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116538554T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1466T>A	2.37:g.116538554T>A	ENSP00000386565:p.Phe489Tyr					DPP10_uc002tlb.1_Missense_Mutation_p.F439Y|DPP10_uc002tlc.1_Missense_Mutation_p.F485Y|DPP10_uc002tle.2_Missense_Mutation_p.F493Y|DPP10_uc002tlf.1_Missense_Mutation_p.F482Y	p.F489Y	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			16	1923	+			489			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1466T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996431	0.74818	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.86	5.86	0.93980	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.058123	0.64402	D	0.000001	T	0.29620	0.0739	N	0.11927	0.2	0.42635	D	0.993392	P;D;D;D	0.62365	0.948;0.991;0.958;0.958	P;P;P;P	0.58970	0.765;0.836;0.849;0.849	T	0.09122	-1.0689	10	0.10636	T	0.68	-25.5928	13.9888	0.64353	0.0:0.0:0.0:1.0	.	482;493;485;489	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Y	489;439;493;482;439	ENSP00000386565:F489Y;ENSP00000387038:F439Y;ENSP00000376855:F493Y;ENSP00000309066:F482Y	ENSP00000309066:F482Y	F	+	2	0	DPP10	116255024	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.198000	0.65147	2.241000	0.73720	0.533000	0.62120	TTC		PASS	0.289	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		43	104	43	104	---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130930227	130930227	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:130930227A>G	ENST00000409031.1	-	7	1743	c.595T>C	c.(595-597)Ttc>Ctc	p.F199L	SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.F86L|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000351288.6_Missense_Mutation_p.F199L|SMPD4_ENST00000431183.2_Missense_Mutation_p.F126L|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000473720.1_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	160					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)	p.F199L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	aaggcaaagaagaatatgtaa	0.572																																						uc002tqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)TTC>CTC		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						83.0	88.0	86.0					2																	130930227		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130930227A>G	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.595T>C	2.37:g.130930227A>G	ENSP00000386531:p.Phe199Leu					SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Missense_Mutation_p.F199L|SMPD4_uc002tqs.1_Missense_Mutation_p.F67L|SMPD4_uc002tqt.1_Missense_Mutation_p.F77L|SMPD4_uc010zaa.1_Missense_Mutation_p.F86L|SMPD4_uc010zab.1_Missense_Mutation_p.F126L|SMPD4_uc010zac.1_Intron|SMPD4_uc010zad.1_Intron	p.F199L	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			7	1115	-	Colorectal(110;0.1)		160					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.595T>C	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	a	9.559	1.117842	0.20877	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000339679	.	.	.	3.5	3.5	0.40072	.	0.361857	0.26855	N	0.022154	T	0.42291	0.1196	L	0.44542	1.39	0.80722	D	1	B;B;B;B;B	0.17268	0.01;0.01;0.002;0.005;0.021	B;B;B;B;B	0.18263	0.021;0.013;0.002;0.006;0.012	T	0.21655	-1.0239	9	0.17832	T	0.49	.	5.2965	0.15754	0.8693:0.0:0.1307:0.0	.	126;86;160;160;199	E7ESA2;B4E0T5;Q9NXE4-2;Q9NXE4;B1PBA3	.;.;.;NSMA3_HUMAN;.	L	199;199;126;86	.	ENSP00000339721:F86L	F	-	1	0	SMPD4	130646697	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	2.032000	0.41127	1.463000	0.47967	0.374000	0.22700	TTC		PASS	0.572	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		79	60	79	60	---	---	---	---
ARL5A	26225	broad.mit.edu	37	2	152670727	152670727	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:152670727C>T	ENST00000295087.8	-	3	522	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	ARL5A_ENST00000428992.2_Missense_Mutation_p.E34K	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	71					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.E71K(1)		breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		CGAAGAGATTCTTGGCCACCA	0.323																																						uc002txx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GAA>AAA		ADP-ribosylation factor-like 5A isoform 1							115.0	118.0	117.0					2																	152670727		2203	4298	6501	SO:0001583	missense	26225				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr2:152670727C>T	AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.211G>A	2.37:g.152670727C>T	ENSP00000295087:p.Glu71Lys					ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_Missense_Mutation_p.E34K|ARL5A_uc002txw.1_Missense_Mutation_p.E34K	p.E71K	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.153)	3	530	-			71					Q580I5	Missense_Mutation	SNP	ENST00000295087.8	37	c.211G>A	CCDS2195.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585344	0.96578	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	D;D	0.83591	-1.74;-1.74	5.38	5.38	0.77491	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	L	0.45137	1.4	0.80722	D	1	D	0.55172	0.97	P	0.62014	0.897	D	0.88748	0.3248	10	0.87932	D	0	-14.3152	19.1349	0.93424	0.0:1.0:0.0:0.0	.	71	Q9Y689	ARL5A_HUMAN	K	71;34;34	ENSP00000295087:E71K;ENSP00000415950:E34K	ENSP00000295087:E71K	E	-	1	0	ARL5A	152378973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.541000	0.85698	0.561000	0.74099	GAA		PASS	0.323	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254837.1			84	93	84	93	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166226715	166226715	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:166226715T>C	ENST00000375437.2	+	20	4045	c.3755T>C	c.(3754-3756)aTa>aCa	p.I1252T	SCN2A_ENST00000283256.6_Missense_Mutation_p.I1252T|SCN2A_ENST00000357398.3_Missense_Mutation_p.I1252T|SCN2A_ENST00000375427.2_Missense_Mutation_p.I1252T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1252					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1252T(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCACTTACATATTCATTCTG	0.368																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(3754-3756)ATA>ACA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						169.0	164.0	166.0					2																	166226715		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166226715T>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3755T>C	2.37:g.166226715T>C	ENSP00000364586:p.Ile1252Thr					SCN2A_uc002udd.2_Missense_Mutation_p.I1252T|SCN2A_uc002ude.2_Missense_Mutation_p.I1252T	p.I1252T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			20	4045	+			1252			Helical; Name=S2 of repeat III; (Potential).|III.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3755T>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526779	0.85706	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25	5.82	5.82	0.92795	Ion transport (1);	0.073806	0.56097	D	0.000025	D	0.99486	0.9817	H	0.97315	3.98	0.58432	D	0.99999	D;D	0.76494	0.999;0.996	D;D	0.87578	0.989;0.998	D	0.98121	1.0425	10	0.87932	D	0	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	1252;1252	Q99250-2;Q99250	.;SCN2A_HUMAN	T	1252	ENSP00000364586:I1252T;ENSP00000349973:I1252T;ENSP00000283256:I1252T;ENSP00000364576:I1252T	ENSP00000283256:I1252T	I	+	2	0	SCN2A	165934961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.232000	0.73038	0.528000	0.53228	ATA		PASS	0.368	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		4	246	4	246	---	---	---	---
PHOSPHO2	493911	broad.mit.edu	37	2	170557600	170557600	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:170557600G>A	ENST00000359744.3	+	4	507	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	40							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)	p.R40Q(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GATTCTTATCGAAAAGGATTT	0.363																																						uc002ufg.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(118-120)CGA>CAA		phosphatase, orphan 2							96.0	99.0	98.0					2																	170557600		2203	4300	6503	SO:0001583	missense	493911						metal ion binding|pyridoxal phosphatase activity	g.chr2:170557600G>A	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.119G>A	2.37:g.170557600G>A	ENSP00000352782:p.Arg40Gln					KLHL23_uc002ufh.1_Intron	p.R40Q	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN			4	507	+			40					B2RC30|D3DPC7	Missense_Mutation	SNP	ENST00000359744.3	37	c.119G>A	CCDS33319.1	.	.	.	.	.	.	.	.	.	.	G	4.217	0.039070	0.08148	.	.	ENSG00000144362	ENST00000359744;ENST00000438838;ENST00000438710;ENST00000449906	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.24	2.85	0.33270	HAD-like domain (1);	0.519054	0.17826	N	0.160694	T	0.17109	0.0411	N	0.03983	-0.305	0.09310	N	0.999994	B	0.12630	0.006	B	0.09377	0.004	T	0.26018	-1.0115	10	0.09084	T	0.74	.	9.5989	0.39591	0.7909:0.0:0.2091:0.0	.	40	Q8TCD6	PHOP2_HUMAN	Q	40	ENSP00000352782:R40Q;ENSP00000393983:R40Q;ENSP00000411844:R40Q;ENSP00000416790:R40Q	ENSP00000352782:R40Q	R	+	2	0	PHOSPHO2	170265846	0.044000	0.20184	0.448000	0.26945	0.920000	0.55202	2.139000	0.42149	0.394000	0.25230	-0.294000	0.09567	CGA		PASS	0.363	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489		48	92	48	92	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179399137	179399137	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:179399137G>C	ENST00000591111.1	-	308	97506	c.97282C>G	c.(97282-97284)Cag>Gag	p.Q32428E	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q25196E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q34069E|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q25129E|TTN_ENST00000460472.2_Missense_Mutation_p.Q25004E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q31501E|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin	32428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q25196E(1)|p.Q31499E(1)|p.Q25004E(1)|p.Q25129E(1)|p.Q31501E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGGTGCTGGAGAGCCTCC	0.433																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94501-94503)CAG>GAG		titin isoform N2-A							126.0	127.0	126.0					2																	179399137		1944	4139	6083	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399137G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97282C>G	2.37:g.179399137G>C	ENSP00000465570:p.Gln32428Glu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q25196E|TTN_uc010zfi.1_Missense_Mutation_p.Q25129E|TTN_uc010zfj.1_Missense_Mutation_p.Q25004E	p.Q31501E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94725	-			32428					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94501C>G		.	.	.	.	.	.	.	.	.	.	G	9.412	1.080895	0.20309	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.88	3.97	0.46021	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.40347	0.1113	N	0.04768	-0.165	0.32793	N	0.500906	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.49986	-0.8880	9	0.87932	D	0	.	9.6565	0.39930	0.0:0.3068:0.5625:0.1306	.	25004;25129;25196;32428	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	31501;25004;25196;25129;25001	ENSP00000343764:Q31501E;ENSP00000434586:Q25004E;ENSP00000340554:Q25196E;ENSP00000352154:Q25129E	ENSP00000340554:Q25196E	Q	-	1	0	TTN	179107383	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	2.005000	0.40864	1.469000	0.48083	0.555000	0.69702	CAG		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	73	74	73	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179428869	179428869	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:179428869C>G	ENST00000591111.1	-	276	77291	c.77067G>C	c.(77065-77067)caG>caC	p.Q25689H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q18457H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q27330H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q18390H|TTN_ENST00000460472.2_Missense_Mutation_p.Q18265H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24762H|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25689	Ig-like 125.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q24762H(1)|p.Q18265H(1)|p.Q24760H(1)|p.Q18390H(1)|p.Q18457H(1)|p.Q18265Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTTGTTTTCTGAATAGTAG	0.388																																						uc010zfg.1																			6	Substitution - Missense(5)|Substitution - coding silent(1)	p.Q18265Q(1)	lung(5)|kidney(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(74284-74286)CAG>CAC		titin isoform N2-A							174.0	180.0	178.0					2																	179428869		1861	4096	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428869C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77067G>C	2.37:g.179428869C>G	ENSP00000465570:p.Gln25689His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q18457H|TTN_uc010zfi.1_Missense_Mutation_p.Q18390H|TTN_uc010zfj.1_Missense_Mutation_p.Q18265H	p.Q24762H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	74510	-			25689					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74286G>C		.	.	.	.	.	.	.	.	.	.	C	8.682	0.905457	0.17760	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.07	5.02	0.67125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62196	0.2408	N	0.16656	0.425	0.35975	D	0.83558	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.55161	0.77;0.77;0.77;0.77	T	0.70037	-0.4982	9	0.87932	D	0	.	10.831	0.46661	0.0:0.8102:0.0:0.1898	.	18265;18390;18457;25689	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24762;18265;18457;18390;18263	ENSP00000343764:Q24762H;ENSP00000434586:Q18265H;ENSP00000340554:Q18457H;ENSP00000352154:Q18390H	ENSP00000340554:Q18457H	Q	-	3	2	TTN	179137115	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.401000	0.20948	2.885000	0.99019	0.650000	0.86243	CAG		PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	346	9	346	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179435834	179435834	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:179435834G>A	ENST00000591111.1	-	276	70326	c.70102C>T	c.(70102-70104)Cca>Tca	p.P23368S	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16136S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P25009S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16069S|TTN_ENST00000460472.2_Missense_Mutation_p.P15944S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22441S|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23368	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P16069S(1)|p.P15944S(1)|p.P22441S(1)|p.P22439S(1)|p.P16136S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTCCTGGTGGATCACATGGG	0.463																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(67321-67323)CCA>TCA		titin isoform N2-A							121.0	125.0	124.0					2																	179435834		1987	4164	6151	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435834G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70102C>T	2.37:g.179435834G>A	ENSP00000465570:p.Pro23368Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P16136S|TTN_uc010zfi.1_Missense_Mutation_p.P16069S|TTN_uc010zfj.1_Missense_Mutation_p.P15944S	p.P22441S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	67545	-			23368					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.67321C>T		.	.	.	.	.	.	.	.	.	.	G	11.91	1.778751	0.31502	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.28	5.28	0.74379	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77011	0.4068	M	0.78285	2.405	0.54753	D	0.999987	D;D;D;D	0.76494	0.978;0.998;0.998;0.999	P;D;D;D	0.67900	0.871;0.918;0.918;0.954	T	0.79818	-0.1643	9	0.87932	D	0	.	19.2734	0.94019	0.0:0.0:1.0:0.0	.	15944;16069;16136;23368	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	22441;15944;16136;16069;15942	ENSP00000343764:P22441S;ENSP00000434586:P15944S;ENSP00000340554:P16136S;ENSP00000352154:P16069S	ENSP00000340554:P16136S	P	-	1	0	TTN	179144080	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.305000	0.65750	2.630000	0.89119	0.650000	0.86243	CCA		PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		77	92	77	92	---	---	---	---
EEF1B2	1933	broad.mit.edu	37	2	207026083	207026083	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:207026083A>T	ENST00000392222.2	+	3	592	c.217A>T	c.(217-219)Aag>Tag	p.K73*	NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Nonsense_Mutation_p.K73*|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|SNORD51_ENST00000384320.2_RNA|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Nonsense_Mutation_p.K73*|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	73	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.K73*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						GCCAGGAGTGAAGAAAGCTTT	0.378																																						uc002vbf.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(217-219)AAG>TAG		eukaryotic translation elongation factor 1 beta							144.0	138.0	140.0					2																	207026083		2203	4300	6503	SO:0001587	stop_gained	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207026083A>T	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.217A>T	2.37:g.207026083A>T	ENSP00000376056:p.Lys73*					NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Nonsense_Mutation_p.K73*|EEF1B2_uc002vbh.1_Nonsense_Mutation_p.K73*|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank	p.K73*	NM_001037663	NP_001032752	P24534	EF1B_HUMAN			4	375	+			73			GST C-terminal.		A8K795|Q6IBH9	Nonsense_Mutation	SNP	ENST00000392222.2	37	c.217A>T	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	35	5.516400	0.96402	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.848	15.0031	0.71489	1.0:0.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000236957:K73X	K	+	1	0	EEF1B2	206734328	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.153000	0.89640	1.954000	0.56735	0.454000	0.30748	AAG		PASS	0.378	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		9	133	9	133	---	---	---	---
SP140	11262	broad.mit.edu	37	2	231101851	231101851	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr2:231101851G>T	ENST00000392045.3	+	2	227	c.113G>T	c.(112-114)tGc>tTc	p.C38F	SP140_ENST00000544128.1_3'UTR|SP140_ENST00000350136.5_Missense_Mutation_p.C18F|SP140_ENST00000343805.6_Missense_Mutation_p.C38F|SP140_ENST00000417495.3_Missense_Mutation_p.C38F|SP140_ENST00000486687.2_Missense_Mutation_p.C38F|SP140_ENST00000373645.3_Missense_Mutation_p.C38F|SP140_ENST00000420434.3_Missense_Mutation_p.C38F	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	38	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C38F(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAGCAGGTTTGCCCTGAGCCC	0.488																																						uc002vql.2																			2	Substitution - Missense(2)		lung(2)		0						c.(112-114)TGC>TTC		SP140 nuclear body protein isoform 1							72.0	76.0	75.0					2																	231101851		2203	4300	6503	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231101851G>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.113G>T	2.37:g.231101851G>T	ENSP00000375899:p.Cys38Phe					SP140_uc010zma.1_RNA|SP140_uc002vqj.2_Missense_Mutation_p.C38F|SP140_uc002vqk.2_Missense_Mutation_p.C38F|SP140_uc002vqn.2_Missense_Mutation_p.C38F|SP140_uc002vqm.2_Missense_Mutation_p.C38F|SP140_uc010fxl.2_Missense_Mutation_p.C38F	p.C38F	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	2	228	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	38			HSR.		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.113G>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	1.059	-0.673450	0.03403	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	3.25	-6.51	0.01878	Sp100 (2);	.	.	.	.	T	0.77432	0.4129	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.0;0.003;0.0	B;B;B;B;B;B	0.11329	0.001;0.001;0.0;0.002;0.006;0.0	T	0.66400	-0.5933	9	0.30078	T	0.28	-0.7239	2.0461	0.03561	0.2143:0.1103:0.4401:0.2353	.	38;38;38;38;38;38	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	F	38;38;38;18;38;38;38;38;38	ENSP00000440107:C38F;ENSP00000345846:C18F;ENSP00000375899:C38F;ENSP00000342096:C38F;ENSP00000398210:C38F;ENSP00000362749:C38F	ENSP00000342096:C38F	C	+	2	0	SP140	230810095	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.133000	0.10451	-1.162000	0.02797	-1.383000	0.01170	TGC		PASS	0.488	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		29	42	29	42	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2861191	2861191	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:2861191G>T	ENST00000397461.1	+	6	764	c.380G>T	c.(379-381)aGa>aTa	p.R127I	CNTN4_ENST00000427331.1_Missense_Mutation_p.R127I|CNTN4_ENST00000418658.1_Missense_Mutation_p.R127I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	127	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R127I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTTAAAACAAGAACAAGAAGC	0.413																																						uc003bpc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(379-381)AGA>ATA		contactin 4 isoform a precursor							112.0	108.0	109.0					3																	2861191		1917	4120	6037	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2861191G>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.380G>T	3.37:g.2861191G>T	ENSP00000380602:p.Arg127Ile					CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.R127I	p.R127I	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	6	601	+		Ovarian(110;0.156)	127			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.380G>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094028	0.76870	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	T;T;T	0.76578	-1.03;-1.03;-1.03	5.86	4.98	0.66077	Immunoglobulin-like (1);	0.138994	0.49305	D	0.000153	T	0.71837	0.3387	L	0.52573	1.65	0.36369	D	0.861176	B;P	0.41498	0.078;0.752	B;B	0.38954	0.097;0.286	T	0.80127	-0.1512	10	0.87932	D	0	.	11.5467	0.50698	0.083:0.0:0.917:0.0	.	127;127	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	I	127	ENSP00000396010:R127I;ENSP00000380602:R127I;ENSP00000413642:R127I	ENSP00000380602:R127I	R	+	2	0	CNTN4	2836191	0.796000	0.28864	0.373000	0.26003	0.990000	0.78478	2.783000	0.47766	2.765000	0.95021	0.655000	0.94253	AGA		PASS	0.413	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			40	34	40	34	---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36756930	36756930	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:36756930C>A	ENST00000416516.2	-	5	2326	c.1836G>T	c.(1834-1836)tgG>tgT	p.W612C	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.W612C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGTTTCGATCCAGGGGTGCT	0.552																																						uc003cgi.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(1834-1836)TGG>TGT		doublecortin-like kinase 3							94.0	95.0	95.0					3																	36756930		2027	4179	6206	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36756930C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1836G>T	3.37:g.36756930C>A	ENSP00000394484:p.Trp612Cys						p.W612C	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			5	2327	-			612			Protein kinase.			Missense_Mutation	SNP	ENST00000416516.2	37	c.1836G>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549778	0.86127	.	.	ENSG00000163673	ENST00000416516	T	0.69561	-0.41	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.30850	N	0.008745	D	0.87845	0.6280	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90117	0.4196	10	0.87932	D	0	.	20.3271	0.98704	0.0:1.0:0.0:0.0	.	612	Q9C098	DCLK3_HUMAN	C	612	ENSP00000394484:W612C	ENSP00000394484:W612C	W	-	3	0	DCLK3	36731934	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.301000	0.78850	2.885000	0.99019	0.655000	0.94253	TGG		PASS	0.552	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		43	50	43	50	---	---	---	---
LARS2	23395	broad.mit.edu	37	3	45530201	45530201	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:45530201C>G	ENST00000415258.1	+	11	1277	c.1136C>G	c.(1135-1137)aCt>aGt	p.T379S	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.T336S|LARS2_ENST00000265537.3_Missense_Mutation_p.T379S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	379					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.T379S(1)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ATTCCCAGTACTAGCTCAGAG	0.468																																						uc003cop.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1135-1137)ACT>AGT		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						85.0	81.0	82.0					3																	45530201		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45530201C>G	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1136C>G	3.37:g.45530201C>G	ENSP00000408576:p.Thr379Ser					LARS2_uc010hit.1_Missense_Mutation_p.T336S	p.T379S	NM_015340	NP_056155	Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	12	1321	+			379						Missense_Mutation	SNP	ENST00000415258.1	37	c.1136C>G	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225659	0.39300	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.21543	2.0;2.0;2.0	5.82	5.82	0.92795	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);	0.157737	0.64402	D	0.000014	T	0.13415	0.0325	N	0.02802	-0.49	0.35541	D	0.803026	B;B	0.18741	0.03;0.03	B;B	0.23852	0.049;0.03	T	0.25152	-1.0140	10	0.72032	D	0.01	-40.2636	20.0991	0.97865	0.0:1.0:0.0:0.0	.	336;379	E9PHM2;Q15031	.;SYLM_HUMAN	S	379;379;336	ENSP00000265537:T379S;ENSP00000408576:T379S;ENSP00000412893:T336S	ENSP00000265537:T379S	T	+	2	0	LARS2	45505205	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.723000	0.47277	2.752000	0.94435	0.655000	0.94253	ACT		PASS	0.468	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		42	42	42	42	---	---	---	---
FAM19A4	151647	broad.mit.edu	37	3	68934335	68934335	+	Missense_Mutation	SNP	C	C	A	rs78056889	byFrequency	TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:68934335C>A	ENST00000295569.7	-	2	497	c.5G>T	c.(4-6)aGg>aTg	p.R2M	RNA5SP135_ENST00000517019.1_RNA	NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	2						extracellular region (GO:0005576)		p.R2M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		CCTTGGGGACCTCATAAGATG	0.383																																						uc003dnh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(4-6)AGG>ATG		family with sequence similarity 19 (chemokine							116.0	114.0	115.0					3																	68934335		2203	4300	6503	SO:0001583	missense	151647					extracellular region		g.chr3:68934335C>A	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.5G>T	3.37:g.68934335C>A	ENSP00000295569:p.Arg2Met					FAM19A4_uc003dni.1_Missense_Mutation_p.R2M	p.R2M	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	2	448	-		Lung NSC(201;0.0198)	2					A8MVT2	Missense_Mutation	SNP	ENST00000295569.7	37	c.5G>T	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	C	7.297	0.612258	0.14066	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	4.75	2.12	0.27331	.	1.439780	0.04469	N	0.375774	T	0.22589	0.0545	N	0.08118	0	0.21220	N	0.999751	B	0.22604	0.072	B	0.24394	0.053	T	0.30357	-0.9981	9	0.72032	D	0.01	.	6.6052	0.22721	0.0:0.0825:0.1548:0.7627	.	2	Q96LR4	F19A4_HUMAN	M	2	.	ENSP00000295569:R2M	R	-	2	0	FAM19A4	69017025	1.000000	0.71417	0.919000	0.36401	0.218000	0.24690	1.922000	0.40045	0.294000	0.22547	-0.290000	0.09829	AGG		PASS	0.383	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		41	55	41	55	---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99509631	99509631	+	Silent	SNP	G	G	A	rs367920647		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:99509631G>A	ENST00000261037.3	+	4	485	c.105G>A	c.(103-105)ccG>ccA	p.P35P	COL8A1_ENST00000273342.4_Silent_p.P35P	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	35	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)		p.P35P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGATCAAGCCGCTGCCACCTC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18173	0.0		0.0	False		,,,				2504	0.0					uc003dtg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(103-105)CCG>CCA		alpha 1 type VIII collagen precursor		G	,	1,4405	2.1+/-5.4	0,1,2202	89.0	78.0	82.0		105,105	-7.9	0.5	3		82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	COL8A1	NM_001850.3,NM_020351.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	35/745,35/745	99509631	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99509631G>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.105G>A	3.37:g.99509631G>A						COL8A1_uc003dth.1_Silent_p.P35P|COL8A1_uc003dti.1_Silent_p.P35P	p.P35P	NM_001850	NP_001841	P27658	CO8A1_HUMAN			4	350	+			35			Nonhelical region (NC2).		D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	c.105G>A	CCDS2934.1																																																																																				PASS	0.557	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		40	75	40	75	---	---	---	---
NIT2	56954	broad.mit.edu	37	3	100064427	100064427	+	Splice_Site	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:100064427A>G	ENST00000394140.4	+	5	427		c.e5-1			NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2						asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.?(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TTTGTGATGCAGATCCATCTG	0.403																																						uc003dtv.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e5-2		nitrilase family, member 2							101.0	96.0	98.0					3																	100064427		2203	4300	6503	SO:0001630	splice_region_variant	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100064427A>G	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.337-1A>G	3.37:g.100064427A>G						NIT2_uc011bha.1_Intron	p.I113_splice	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN			5	411	+								B2R9A3|D3DN47|Q8WUF0	Splice_Site	SNP	ENST00000394140.4	37	c.337_splice	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359214	0.82353	.	.	ENSG00000114021	ENST00000394140;ENST00000497785	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6753	0.77311	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIT2	101547117	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.343000	0.90052	2.241000	0.73720	0.533000	0.62120	.		PASS	0.403	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	Intron	14	67	14	67	---	---	---	---
TRAT1	50852	broad.mit.edu	37	3	108568089	108568089	+	Silent	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:108568089C>G	ENST00000295756.6	+	5	521	c.291C>G	c.(289-291)acC>acG	p.T97T	TRAT1_ENST00000426646.1_Silent_p.T60T	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	97					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.T97T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGGAAGCCACCCCATCTGCAC	0.373																																						uc003dxi.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(289-291)ACC>ACG		T-cell receptor interacting molecule							85.0	81.0	82.0					3																	108568089		2203	4300	6503	SO:0001819	synonymous_variant	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108568089C>G	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.291C>G	3.37:g.108568089C>G						TRAT1_uc010hpx.1_Silent_p.T60T	p.T97T	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	435	+			97			Cytoplasmic (Potential).		Q9NZX5	Silent	SNP	ENST00000295756.6	37	c.291C>G	CCDS33813.1																																																																																				PASS	0.373	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		90	134	90	134	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113327364	113327364	+	Silent	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:113327364T>C	ENST00000264852.4	+	17	2427	c.1701T>C	c.(1699-1701)aaT>aaC	p.N567N	SIDT1_ENST00000393830.3_Silent_p.N567N|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	567					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.N567N(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TCTGCCCTAATTATTCCAACT	0.433																																						uc003eak.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1699-1701)AAT>AAC		SID1 transmembrane family, member 1 precursor							197.0	187.0	190.0					3																	113327364		2203	4300	6503	SO:0001819	synonymous_variant	54847					integral to membrane		g.chr3:113327364T>C	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1701T>C	3.37:g.113327364T>C						SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.N567N|SIDT1_uc011big.1_Silent_p.N320N|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Silent_p.N20N	p.N567N	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			17	2352	+			567			Extracellular (Potential).		Q17RR4	Silent	SNP	ENST00000264852.4	37	c.1701T>C	CCDS2974.1																																																																																				PASS	0.433	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		316	286	316	286	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	121137266	121137266	+	Silent	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:121137266C>G	ENST00000273666.6	+	27	3652	c.3381C>G	c.(3379-3381)ggC>ggG	p.G1127G	STXBP5L_ENST00000471454.1_Silent_p.G1103G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1127	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1127G(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGATGAAAGGCGCTGCTGGAG	0.527																																						uc003eec.3																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)	9						c.(3379-3381)GGC>GGG		syntaxin binding protein 5-like							55.0	61.0	59.0					3																	121137266		2024	4185	6209	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121137266C>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3381C>G	3.37:g.121137266C>G						STXBP5L_uc011bji.1_Silent_p.G1103G	p.G1127G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	27	3521	+			1127			v-SNARE coiled-coil homology.		Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.3381C>G	CCDS43137.1																																																																																				PASS	0.527	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			18	81	18	81	---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122287963	122287963	+	Missense_Mutation	SNP	C	C	T	rs371820944		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:122287963C>T	ENST00000296161.4	+	3	1216	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	343					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L343F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CGAATTAACTCTCCTTGGGAC	0.383																																						uc003efk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1027-1029)CTC>TTC		deltex 3-like							91.0	103.0	98.0					3																	122287963		2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287963C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1027C>T	3.37:g.122287963C>T	ENSP00000296161:p.Leu343Phe					DTX3L_uc010hrj.2_Intron	p.L343F	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1116	+			343					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.1027C>T	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535149	0.85812	.	.	ENSG00000163840	ENST00000296161	T	0.61274	0.12	5.65	5.65	0.86999	.	0.000000	0.49916	D	0.000129	T	0.74275	0.3695	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73569	-0.3941	10	0.52906	T	0.07	-17.9054	16.5728	0.84629	0.0:1.0:0.0:0.0	.	343	Q8TDB6	DTX3L_HUMAN	F	343	ENSP00000296161:L343F	ENSP00000296161:L343F	L	+	1	0	DTX3L	123770653	0.973000	0.33851	0.964000	0.40570	0.986000	0.74619	1.628000	0.37060	2.941000	0.99782	0.655000	0.94253	CTC		PASS	0.383	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		78	355	78	355	---	---	---	---
SEC22A	26984	broad.mit.edu	37	3	122942494	122942494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:122942494C>T	ENST00000309934.4	+	2	1167	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Nonsense_Mutation_p.Q91*	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	91	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.Q91*(1)		NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GGATGAGCTTCAGAAGGAGTT	0.378																																						uc003ege.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(271-273)CAG>TAG		SEC22 vesicle trafficking protein homolog A							184.0	181.0	182.0					3																	122942494		2203	4300	6503	SO:0001587	stop_gained	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122942494C>T	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.271C>T	3.37:g.122942494C>T	ENSP00000310521:p.Gln91*					SEC22A_uc003egf.2_Nonsense_Mutation_p.Q91*	p.Q91*	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	3	350	+			91			Cytoplasmic (Potential).|Longin.		B2RE26|Q9Y682	Nonsense_Mutation	SNP	ENST00000309934.4	37	c.271C>T	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020888	0.93462	.	.	ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000466519;ENST00000480631;ENST00000491366;ENST00000487572;ENST00000309934	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-0.4509	18.0315	0.89286	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000310521:Q91X	Q	+	1	0	SEC22A	124425184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	2.479000	0.83701	0.650000	0.86243	CAG		PASS	0.378	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		135	454	135	454	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124141740	124141740	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:124141740A>G	ENST00000240874.3	+	15	2775	c.2618A>G	c.(2617-2619)cAt>cGt	p.H873R	KALRN_ENST00000460856.1_Missense_Mutation_p.H873R|KALRN_ENST00000360013.3_Missense_Mutation_p.H873R	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	873					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H873R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGAAGCAGCATGAATTGGAG	0.453																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(2617-2619)CAT>CGT		kalirin, RhoGEF kinase isoform 1							98.0	94.0	95.0					3																	124141740		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124141740A>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2618A>G	3.37:g.124141740A>G	ENSP00000240874:p.His873Arg					KALRN_uc010hrv.1_Missense_Mutation_p.H873R|KALRN_uc003ehf.1_Missense_Mutation_p.H873R|KALRN_uc011bjy.1_Missense_Mutation_p.H873R|KALRN_uc003ehh.1_Missense_Mutation_p.H219R	p.H873R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			15	2745	+			873					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.2618A>G	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.636|9.636	1.137719|1.137719	0.21123|0.21123	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.33216|.	1.42;1.42;1.42|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.206557|.	0.42548|.	D|.	0.000693|.	T|T	0.40570|0.40570	0.1122|0.1122	N|N	0.11427|0.11427	0.14|0.14	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.22003|.	0.001;0.0;0.063;0.001|.	B;B;B;B|.	0.22386|.	0.005;0.001;0.039;0.012|.	T|T	0.31586|0.31586	-0.9938|-0.9938	10|5	0.11182|.	T|.	0.66|.	.|.	15.0843|15.0843	0.72138|0.72138	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	873;219;873;873|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	R|V	873|851	ENSP00000418611:H873R;ENSP00000240874:H873R;ENSP00000353109:H873R|.	ENSP00000240874:H873R|.	H|M	+|+	2|1	0|0	KALRN|KALRN	125624430|125624430	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.983000|0.983000	0.72400|0.72400	9.087000|9.087000	0.94110|0.94110	2.204000|2.204000	0.70986|0.70986	0.529000|0.529000	0.55759|0.55759	CAT|ATG		PASS	0.453	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		26	128	26	128	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129389793	129389793	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:129389793C>A	ENST00000393238.3	-	4	1231	c.891G>T	c.(889-891)aaG>aaT	p.K297N	TMCC1_ENST00000329333.5_Missense_Mutation_p.K118N|TMCC1_ENST00000426664.2_Missense_Mutation_p.K183N|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	297						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.K297N(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTCAAGTTTCTTTTGCAGCT	0.522																																						uc003emz.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(889-891)AAG>AAT		transmembrane and coiled-coil domain family 1							141.0	132.0	135.0					3																	129389793		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389793C>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.891G>T	3.37:g.129389793C>A	ENSP00000376930:p.Lys297Asn					TMCC1_uc003emy.3_5'UTR|TMCC1_uc011blc.1_Missense_Mutation_p.K118N|TMCC1_uc010htg.2_Missense_Mutation_p.K183N	p.K297N	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			5	1392	-			297			Potential.		A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.891G>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668772	0.67814	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.55760	0.5;0.5;0.5	5.56	5.56	0.83823	.	0.040928	0.85682	D	0.000000	T	0.74854	0.3771	M	0.84585	2.705	0.52099	D	0.999943	D;P	0.53885	0.963;0.77	P;P	0.60886	0.88;0.5	T	0.76772	-0.2836	10	0.54805	T	0.06	-0.605	19.8814	0.96900	0.0:1.0:0.0:0.0	.	118;297	B4DE04;O94876	.;TMCC1_HUMAN	N	297;183;118	ENSP00000376930:K297N;ENSP00000389892:K183N;ENSP00000327349:K118N	ENSP00000327349:K118N	K	-	3	2	TMCC1	130872483	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.772000	0.38552	2.778000	0.95560	0.591000	0.81541	AAG		PASS	0.522	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		91	328	91	328	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132211259	132211259	+	Splice_Site	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:132211259C>T	ENST00000260818.6	+	33	3873	c.3625C>T	c.(3625-3627)Cgc>Tgc	p.R1209C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1209					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.R1209C(1)|p.R592C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGATTGTAGGCGCCTGATGAT	0.373																																						uc003eor.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(3625-3627)CGC>TGC		DnaJ (Hsp40) homolog, subfamily C, member 13							164.0	178.0	173.0					3																	132211259		2203	4300	6503	SO:0001630	splice_region_variant	23317						heat shock protein binding	g.chr3:132211259C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3624-1C>T	3.37:g.132211259C>T							p.R1209C	NM_015268	NP_056083	O75165	DJC13_HUMAN			33	3690	+			1209					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3625C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629410	0.87660	.	.	ENSG00000138246	ENST00000260818	T	0.20598	2.06	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.58171	-0.7683	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1209	O75165	DJC13_HUMAN	C	1209	ENSP00000260818:R1209C	ENSP00000260818:R1209C	R	+	1	0	DNAJC13	133693949	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.880000	0.69698	2.861000	0.98227	0.655000	0.94253	CGC		PASS	0.373	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	Missense_Mutation	10	689	10	689	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133335770	133335770	+	Splice_Site	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:133335770C>G	ENST00000260810.5	-	23	3891		c.e23-1			NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1						cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.?(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCGTTATAATCTGGAATGAAA	0.279								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2																			2	Unknown(2)		lung(2)	ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.e23-1	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							47.0	41.0	43.0					3																	133335770		1770	4027	5797	SO:0001630	splice_region_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133335770C>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3760-1G>C	3.37:g.133335770C>G							p.I1254_splice	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			23	3892	-								B7Z7W8|Q7LGC1|Q9UEB9	Splice_Site	SNP	ENST00000260810.5	37	c.3760_splice	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254926	0.39896	.	.	ENSG00000163781	ENST00000260810	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4046	0.60903	0.0:0.9285:0.0:0.0715	.	.	.	.	.	-1	.	.	.	-	.	.	TOPBP1	134818460	0.985000	0.35326	0.919000	0.36401	0.601000	0.36947	2.626000	0.46460	2.776000	0.95493	0.655000	0.94253	.		PASS	0.279	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027	Intron	10	8	10	8	---	---	---	---
TF	7018	broad.mit.edu	37	3	133476704	133476704	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:133476704T>A	ENST00000402696.3	+	8	1447	c.962T>A	c.(961-963)tTt>tAt	p.F321Y	TF_ENST00000264998.3_Missense_Mutation_p.F194Y	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	321	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.F321Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GCCCACGGGTTTTTAAAAGTC	0.478																																						uc003epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(961-963)TTT>TAT		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						85.0	85.0	85.0					3																	133476704		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133476704T>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.962T>A	3.37:g.133476704T>A	ENSP00000385834:p.Phe321Tyr					TF_uc011blt.1_Missense_Mutation_p.F194Y|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.F321Y	p.F321Y	NM_001063	NP_001054	P02787	TRFE_HUMAN			13	2690	+			321			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.962T>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184814	0.78677	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.36699	1.24;1.24	4.91	4.91	0.64330	.	0.232564	0.45606	D	0.000356	T	0.66858	0.2832	M	0.92169	3.28	0.09310	N	1	D	0.69078	0.997	D	0.69654	0.965	T	0.65990	-0.6034	10	0.87932	D	0	-11.35	13.9505	0.64113	0.0:0.0:0.0:1.0	.	321	P02787	TRFE_HUMAN	Y	321;194	ENSP00000385834:F321Y;ENSP00000264998:F194Y	ENSP00000264998:F194Y	F	+	2	0	TF	134959394	0.360000	0.24964	0.008000	0.14137	0.081000	0.17604	4.996000	0.63914	2.190000	0.69967	0.459000	0.35465	TTT		PASS	0.478	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		33	192	33	192	---	---	---	---
RAB6B	51560	broad.mit.edu	37	3	133560496	133560496	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:133560496C>T	ENST00000285208.4	-	3	490	c.141G>A	c.(139-141)ggG>ggA	p.G47G	RAB6B_ENST00000486858.1_Silent_p.G34G|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.G47G	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	47					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.G47G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGAAGTCAATCCCAATGGTTG	0.512																																						uc003epy.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(139-141)GGG>GGA		RAB6B, member RAS oncogene family							125.0	115.0	118.0					3																	133560496		2203	4300	6503	SO:0001819	synonymous_variant	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133560496C>T	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.141G>A	3.37:g.133560496C>T						RAB6B_uc011blu.1_Silent_p.G34G	p.G47G	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN			3	522	-			47			Effector region (By similarity).		B2R5Z9|B7Z337|D3DND3|Q92929	Silent	SNP	ENST00000285208.4	37	c.141G>A	CCDS3082.1																																																																																				PASS	0.512	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			36	166	36	166	---	---	---	---
RASA2	5922	broad.mit.edu	37	3	141295906	141295906	+	Silent	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:141295906C>G	ENST00000452898.1	+	15	1583	c.1548C>G	c.(1546-1548)gcC>gcG	p.A516A	RASA2_ENST00000286364.3_Silent_p.A516A	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	516	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.A516A(4)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTGCTGTAGCCGTAGTATCAC	0.348																																						uc003etz.1																			4	Substitution - coding silent(4)		lung(4)	ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(1546-1548)GCC>GCG		RAS p21 protein activator 2							228.0	215.0	219.0					3																	141295906		2203	4300	6503	SO:0001819	synonymous_variant	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141295906C>G	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1548C>G	3.37:g.141295906C>G						RASA2_uc010huq.1_Silent_p.A516A|RASA2_uc003eua.1_Silent_p.A516A|RASA2_uc011bnc.1_Silent_p.A108A	p.A516A	NM_006506	NP_006497	Q15283	RASA2_HUMAN			15	1548	+			516			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37	c.1548C>G																																																																																					PASS	0.348	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		83	171	83	171	---	---	---	---
CPB1	1360	broad.mit.edu	37	3	148552387	148552387	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:148552387A>T	ENST00000491148.1	+	4	584	c.250A>T	c.(250-252)Aag>Tag	p.K84*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.K84*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	84						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K84*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAATGTTCTAAAGCAGAATGA	0.373																																						uc003ewl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(250-252)AAG>TAG		pancreatic carboxypeptidase B1 preproprotein							96.0	90.0	92.0					3																	148552387		2203	4299	6502	SO:0001587	stop_gained	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148552387A>T	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.250A>T	3.37:g.148552387A>T	ENSP00000417222:p.Lys84*						p.K84*	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		3	273	+			84					O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	ENST00000491148.1	37	c.250A>T	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	A	8.820	0.937378	0.18206	.	.	ENSG00000153002	ENST00000491148;ENST00000462345;ENST00000282957;ENST00000468341	.	.	.	5.17	-1.59	0.08453	.	1.148400	0.06136	N	0.671466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.3702	0.32410	0.383:0.0976:0.5194:0.0	.	.	.	.	X	84	.	ENSP00000282957:K84X	K	+	1	0	CPB1	150035077	0.914000	0.31030	0.150000	0.22450	0.125000	0.20455	-0.061000	0.11693	-0.737000	0.04824	0.386000	0.25728	AAG		PASS	0.373	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		73	157	73	157	---	---	---	---
TM4SF18	116441	broad.mit.edu	37	3	149048162	149048162	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:149048162G>T	ENST00000296059.2	-	3	487	c.222C>A	c.(220-222)aaC>aaA	p.N74K	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.N74K	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	74						integral component of membrane (GO:0016021)		p.N74K(1)		lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATTTATAGTTGTTATTATTCT	0.368																																						uc003exa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)AAC>AAA		transmembrane 4 L six family member 18							88.0	84.0	86.0					3																	149048162		2203	4299	6502	SO:0001583	missense	116441					integral to membrane		g.chr3:149048162G>T	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.222C>A	3.37:g.149048162G>T	ENSP00000296059:p.Asn74Lys						p.N74K	NM_138786	NP_620141	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		3	359	-			74			Cytoplasmic (Potential).		B2R8K0|D3DNH5	Missense_Mutation	SNP	ENST00000296059.2	37	c.222C>A	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	G	0.666	-0.803636	0.02841	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.30182	1.54;1.54;1.54	4.06	-1.71	0.08133	.	0.942326	0.08934	N	0.872574	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.32640	-0.9899	10	0.07325	T	0.83	-11.1482	2.2904	0.04137	0.2394:0.1012:0.4359:0.2235	.	74	Q96CE8	T4S18_HUMAN	K	74	ENSP00000296059:N74K;ENSP00000419278:N74K;ENSP00000418372:N74K	ENSP00000296059:N74K	N	-	3	2	TM4SF18	150530852	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.528000	0.02225	-0.478000	0.06823	-0.808000	0.03180	AAC		PASS	0.368	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		40	143	40	143	---	---	---	---
SUCNR1	56670	broad.mit.edu	37	3	151598764	151598764	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:151598764G>C	ENST00000362032.5	+	3	538	c.433G>C	c.(433-435)Gcc>Ccc	p.A145P	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	145						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A145P(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	AATCTCCTTGGCCATTTGGGT	0.363																																						uc003ezf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)GCC>CCC		succinate receptor 1	Succinic acid(DB00139)						120.0	122.0	122.0					3																	151598764		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598764G>C	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.433G>C	3.37:g.151598764G>C	ENSP00000355156:p.Ala145Pro						p.A145P	NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	532	+			145			Helical; Name=4; (Potential).		A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.433G>C	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705920	0.30232	.	.	ENSG00000198829	ENST00000362032	T	0.40225	1.04	5.28	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.436103	0.22804	U	0.055435	T	0.67382	0.2887	M	0.89095	3.005	0.09310	N	1	D	0.69078	0.997	D	0.68621	0.959	T	0.63332	-0.6661	10	0.38643	T	0.18	.	14.0927	0.65002	0.0727:0.0:0.9273:0.0	.	145	Q9BXA5	SUCR1_HUMAN	P	145	ENSP00000355156:A145P	ENSP00000355156:A145P	A	+	1	0	SUCNR1	153081454	0.989000	0.36119	0.148000	0.22405	0.243000	0.25628	3.584000	0.53936	1.364000	0.46038	0.655000	0.94253	GCC		PASS	0.363	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		112	486	112	486	---	---	---	---
SI	6476	broad.mit.edu	37	3	164735583	164735583	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:164735583G>T	ENST00000264382.3	-	30	3661	c.3599C>A	c.(3598-3600)cCa>cAa	p.P1200Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1200	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P1200Q(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCTGGAGTTGGGCCCAAAAA	0.333										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3598-3600)CCA>CAA		sucrase-isomaltase	Acarbose(DB00284)						60.0	58.0	58.0					3																	164735583		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735583G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3599C>A	3.37:g.164735583G>T	ENSP00000264382:p.Pro1200Gln	HNSCC(35;0.089)					p.P1200Q	NM_001041	NP_001032	P14410	SUIS_HUMAN			30	3661	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1200			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3599C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366247	0.82463	.	.	ENSG00000090402	ENST00000264382	D	0.89343	-2.5	4.91	4.91	0.64330	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.96185	0.8756	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97186	0.9854	10	0.72032	D	0.01	.	18.2831	0.90104	0.0:0.0:1.0:0.0	.	1200	P14410	SUIS_HUMAN	Q	1200	ENSP00000264382:P1200Q	ENSP00000264382:P1200Q	P	-	2	0	SI	166218277	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.171000	0.89675	2.540000	0.85666	0.491000	0.48974	CCA		PASS	0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		25	86	25	86	---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172166132	172166132	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:172166132G>A	ENST00000241256.2	-	1	114	c.72C>T	c.(70-72)tcC>tcT	p.S24S	GHSR_ENST00000427970.1_Silent_p.S24S	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	24					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.S24S(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGTTGCCGGGGGAAGCATCCC	0.687																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(70-72)TCC>TCT		growth hormone secretagogue receptor isoform 1a							27.0	27.0	27.0					3																	172166132		2202	4300	6502	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172166132G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.72C>T	3.37:g.172166132G>A						GHSR_uc011bpv.1_Silent_p.S24S	p.S24S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	72	-	Ovarian(172;0.00143)|Breast(254;0.197)		24			Extracellular (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.72C>T	CCDS3218.1																																																																																				PASS	0.687	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		17	32	17	32	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186943206	186943206	+	Missense_Mutation	SNP	G	G	T	rs72549170	byFrequency	TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr3:186943206G>T	ENST00000337774.5	-	13	2036	c.1647C>A	c.(1645-1647)ttC>ttA	p.F549L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	549	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.F549L(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGTCATTCTCGAATGTGTTGG	0.557																																						uc003frh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|liver(1)	4						c.(1645-1647)TTC>TTA		mannan-binding lectin serine protease 1 isoform							224.0	205.0	211.0					3																	186943206		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186943206G>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1647C>A	3.37:g.186943206G>T	ENSP00000336792:p.Phe549Leu						p.F549L	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	13	1979	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		549			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1647C>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029055	0.35797	.	.	ENSG00000127241	ENST00000337774	D	0.87491	-2.26	5.9	-3.6	0.04570	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.72542	0.3473	N	0.13003	0.285	0.46823	D	0.999218	B	0.24618	0.107	B	0.24269	0.052	T	0.52381	-0.8583	9	0.48119	T	0.1	.	8.5848	0.33651	0.384:0.1193:0.4967:0.0	.	549	P48740	MASP1_HUMAN	L	549	ENSP00000336792:F549L	ENSP00000336792:F549L	F	-	3	2	MASP1	188425900	0.356000	0.24930	0.240000	0.24138	0.449000	0.32228	-0.510000	0.06328	-0.480000	0.06803	-0.251000	0.11542	TTC		PASS	0.557	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		276	222	276	222	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41682081	41682081	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:41682081A>T	ENST00000313860.7	+	19	2480	c.2426A>T	c.(2425-2427)gAg>gTg	p.E809V	LIMCH1_ENST00000512632.1_Missense_Mutation_p.E732V|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E662V|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E649V|LIMCH1_ENST00000509277.1_Missense_Mutation_p.E642V|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E809V|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E821V|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E642V|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E649V|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E1193V|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E654V|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E808V	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	809	Glu-rich.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E809V(1)|p.E1193V(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCCCAAAAGGAGGTGGAAGAG	0.448																																						uc003gvu.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2425-2427)GAG>GTG		LIM and calponin homology domains 1 isoform a							148.0	123.0	131.0					4																	41682081		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41682081A>T	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.2426A>T	4.37:g.41682081A>T	ENSP00000316891:p.Glu809Val					LIMCH1_uc003gvv.3_Missense_Mutation_p.E809V|LIMCH1_uc003gvw.3_Missense_Mutation_p.E808V|LIMCH1_uc003gvx.3_Missense_Mutation_p.E821V|LIMCH1_uc003gwe.3_Missense_Mutation_p.E732V|LIMCH1_uc003gvy.3_Missense_Mutation_p.E637V|LIMCH1_uc003gwa.3_Missense_Mutation_p.E649V|LIMCH1_uc003gvz.3_Missense_Mutation_p.E1193V|LIMCH1_uc011byu.1_Missense_Mutation_p.E642V|LIMCH1_uc003gwc.3_Missense_Mutation_p.E654V|LIMCH1_uc003gwd.3_Missense_Mutation_p.E642V|LIMCH1_uc011byv.1_Missense_Mutation_p.E559V|LIMCH1_uc011byw.1_Missense_Mutation_p.E108V	p.E809V	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			19	2480	+			809			Glu-rich.		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.2426A>T	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.215850|4.215850	0.79352|0.79352	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.51071|.	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.137998|.	0.47093|.	D|.	0.000256|.	T|T	0.76521|0.76521	0.3999|0.3999	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.999;1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.991;0.999;0.996;0.996;0.999;0.999;0.995;1.0;0.998;0.996;0.998;0.996|.	T|T	0.78383|0.78383	-0.2225|-0.2225	10|5	0.87932|.	D|.	0|.	-25.3241|-25.3241	15.0211|15.0211	0.71632|0.71632	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	649;559;642;732;642;654;1193;662;821;808;809;809|.	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	V|W	662;808;809;809;732;821;1193;649;1192;649;642;654;642;161|643	ENSP00000425222:E662V;ENSP00000424825:E808V;ENSP00000424645:E809V;ENSP00000316891:E809V;ENSP00000427045:E732V;ENSP00000424437:E821V;ENSP00000425631:E1193V;ENSP00000421242:E649V;ENSP00000426334:E649V;ENSP00000422864:E642V;ENSP00000379840:E654V;ENSP00000371172:E642V|.	ENSP00000316891:E809V|.	E|R	+|+	2|1	0|2	LIMCH1|LIMCH1	41376838|41376838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.607000|7.607000	0.82883|0.82883	2.084000|2.084000	0.62774|0.62774	0.533000|0.533000	0.62120|0.62120	GAG|AGG		PASS	0.448	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		4	3	4	3	---	---	---	---
SGCB	6443	broad.mit.edu	37	4	52895916	52895916	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:52895916G>C	ENST00000381431.5	-	3	579	c.357C>G	c.(355-357)atC>atG	p.I119M	SGCB_ENST00000535450.1_Missense_Mutation_p.I49M	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	119	Cys-rich.		I -> F (in LGMD2E). {ECO:0000269|PubMed:9565988}.		cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.I119M(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAAGAGGGTGGATCACTCCCA	0.433																																						uc003gzj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)ATC>ATG		sarcoglycan, beta							127.0	109.0	115.0					4																	52895916		2203	4300	6503	SO:0001583	missense	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52895916G>C	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.357C>G	4.37:g.52895916G>C	ENSP00000370839:p.Ile119Met					SGCB_uc011bzp.1_Missense_Mutation_p.I49M	p.I119M	NM_000232	NP_000223	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	417	-			119		I -> F (in LGMD2E).	Extracellular (Potential).|Cys-rich.		B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	c.357C>G	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568016	0.45798	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94966	-3.57;-3.57	5.25	-1.2	0.09554	.	0.048610	0.85682	D	0.000000	D	0.92561	0.7637	L	0.45137	1.4	0.42954	D	0.994385	P;P	0.48998	0.918;0.918	P;P	0.55455	0.776;0.776	D	0.88251	0.2916	10	0.46703	T	0.11	-6.0273	6.6172	0.22782	0.1969:0.0:0.2983:0.5048	.	49;119	B7Z635;Q16585	.;SGCB_HUMAN	M	119;49	ENSP00000370839:I119M;ENSP00000441199:I49M	ENSP00000370839:I119M	I	-	3	3	SGCB	52590673	0.671000	0.27521	0.209000	0.23619	0.649000	0.38597	-0.185000	0.09684	-0.140000	0.11394	-0.293000	0.09583	ATC		PASS	0.433	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			46	98	46	98	---	---	---	---
REST	5978	broad.mit.edu	37	4	57796299	57796299	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:57796299G>A	ENST00000309042.7	+	4	1589	c.1275G>A	c.(1273-1275)gtG>gtA	p.V425V		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	425	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.V425V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TCTCAAAAGTGAAACTAAAGA	0.348																																						uc003hch.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(1273-1275)GTG>GTA		RE1-silencing transcription factor							80.0	85.0	83.0					4																	57796299		2203	4300	6503	SO:0001819	synonymous_variant	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796299G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1275G>A	4.37:g.57796299G>A						REST_uc003hci.2_Silent_p.V425V|REST_uc010ihf.2_Silent_p.V99V	p.V425V	NM_005612	NP_005603	Q13127	REST_HUMAN			4	1622	+	Glioma(25;0.08)|all_neural(26;0.181)		425			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	c.1275G>A	CCDS3509.1																																																																																				PASS	0.348	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		5	155	5	155	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104044211	104044211	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:104044211T>G	ENST00000265148.3	-	43	7049	c.6960A>C	c.(6958-6960)agA>agC	p.R2320S	CENPE_ENST00000380026.3_Missense_Mutation_p.R2199S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2320	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.R2283S(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTAGCACTTCTTTCCTCAA	0.353																																						uc003hxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(6958-6960)AGA>AGC		centromere protein E							169.0	170.0	169.0					4																	104044211		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104044211T>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6960A>C	4.37:g.104044211T>G	ENSP00000265148:p.Arg2320Ser					CENPE_uc003hxc.1_Missense_Mutation_p.R2199S	p.R2320S	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	43	7050	-			2320			Kinetochore-binding domain.|Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.6960A>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875424	0.51695	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71103	-0.54;-0.52	4.84	2.2	0.27929	.	.	.	.	.	T	0.61438	0.2347	L	0.54323	1.7	0.20196	N	0.999928	B;B	0.33694	0.297;0.421	B;B	0.31751	0.135;0.06	T	0.54912	-0.8222	9	0.72032	D	0.01	.	5.1426	0.14967	0.1817:0.0:0.1894:0.6289	.	2199;2320	Q02224-3;Q02224	.;CENPE_HUMAN	S	2320;2284;2199	ENSP00000265148:R2320S;ENSP00000369365:R2199S	ENSP00000265148:R2320S	R	-	3	2	CENPE	104263660	0.943000	0.32029	0.309000	0.25155	0.890000	0.51754	2.335000	0.43929	0.155000	0.19261	0.383000	0.25322	AGA		PASS	0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				56	91	56	91	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123094218	123094218	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:123094218T>C	ENST00000264501.4	+	4	498	c.125T>C	c.(124-126)aTt>aCt	p.I42T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.I42T|KIAA1109_ENST00000455637.1_Missense_Mutation_p.I42T			Q2LD37	K1109_HUMAN	KIAA1109	42					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I42T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGATGGATTATTTACCTCACA	0.328																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(124-126)ATT>ACT		fragile site-associated protein							192.0	182.0	185.0					4																	123094218		1819	4075	5894	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123094218T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.125T>C	4.37:g.123094218T>C	ENSP00000264501:p.Ile42Thr						p.I42T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			2	170	+			42			Helical; (Potential).		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.125T>C	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.519982	0.44866	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.25749	2.37;2.37;1.78	5.46	5.46	0.80206	.	0.283692	0.19359	U	0.116195	T	0.33323	0.0859	N	0.17723	0.515	0.54753	D	0.999987	D	0.57899	0.981	D	0.69824	0.966	T	0.05632	-1.0873	10	0.13853	T	0.58	.	15.1908	0.73044	0.0:0.0:0.0:1.0	.	42	Q2LD37	K1109_HUMAN	T	42	ENSP00000264501:I42T;ENSP00000373390:I42T;ENSP00000389925:I42T	ENSP00000264501:I42T	I	+	2	0	KIAA1109	123313668	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.497000	0.81536	2.067000	0.61834	0.533000	0.62120	ATT		PASS	0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		6	244	6	244	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072811	134072811	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:134072811C>A	ENST00000264360.5	+	1	2342	c.1516C>A	c.(1516-1518)Cag>Aag	p.Q506K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	506	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.Q506K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTCGAGTGCCAGATCCAGGG	0.577																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1516-1518)CAG>AAG		protocadherin 10 isoform 1 precursor							65.0	67.0	66.0					4																	134072811		2202	4299	6501	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072811C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1516C>A	4.37:g.134072811C>A	ENSP00000264360:p.Gln506Lys					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.Q506K	p.Q506K	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2342	+			506			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1516C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717944	0.30413	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.50277	0.75	4.51	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.000000	0.41001	D	0.000974	T	0.30039	0.0752	N	0.17379	0.485	0.36720	D	0.881135	B;B	0.24651	0.108;0.03	B;B	0.22152	0.036;0.038	T	0.25813	-1.0121	10	0.22706	T	0.39	.	12.0943	0.53747	0.0:0.8261:0.1739:0.0	.	506;506	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	506	ENSP00000264360:Q506K	ENSP00000264360:Q506K	Q	+	1	0	PCDH10	134292261	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.158000	0.64917	2.329000	0.79093	0.655000	0.94253	CAG		PASS	0.577	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		48	127	48	127	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138442370	138442370	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:138442370C>A	ENST00000344876.4	-	4	3607	c.3221G>T	c.(3220-3222)gGa>gTa	p.G1074V	PCDH18_ENST00000510305.1_Missense_Mutation_p.G285V|PCDH18_ENST00000511115.1_Missense_Mutation_p.G254V|PCDH18_ENST00000412923.2_Missense_Mutation_p.G1073V|PCDH18_ENST00000507846.1_Missense_Mutation_p.G853V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1074	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1074V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAGTGAGTTCCAAGTGGCGG	0.527																																						uc003ihe.3																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(2)	5						c.(3220-3222)GGA>GTA		protocadherin 18 precursor							43.0	42.0	42.0					4																	138442370		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442370C>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3221G>T	4.37:g.138442370C>A	ENSP00000355082:p.Gly1074Val					PCDH18_uc003ihf.3_Missense_Mutation_p.G1066V|PCDH18_uc011cgz.1_Missense_Mutation_p.G285V|PCDH18_uc003ihg.3_Missense_Mutation_p.G853V|PCDH18_uc011cha.1_Missense_Mutation_p.G254V	p.G1074V	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			4	3608	-	all_hematologic(180;0.24)		1074			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.3221G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199095	0.22121	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.54866	0.64;0.65;0.55;1.43;1.41	5.05	4.2	0.49525	.	0.000000	0.43260	D	0.000590	T	0.48003	0.1476	L	0.47716	1.5	0.30265	N	0.79279	B;P;P;B	0.36616	0.192;0.561;0.542;0.01	B;B;B;B	0.37508	0.043;0.231;0.252;0.011	T	0.50491	-0.8822	10	0.33940	T	0.23	.	15.5667	0.76298	0.0:0.8617:0.1383:0.0	.	254;853;1073;1074	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	V	1074;1073;853;285;254	ENSP00000355082:G1074V;ENSP00000390688:G1073V;ENSP00000425903:G853V;ENSP00000424269:G285V;ENSP00000425647:G254V	ENSP00000355082:G1074V	G	-	2	0	PCDH18	138661820	0.986000	0.35501	0.027000	0.17364	0.921000	0.55340	2.842000	0.48230	1.129000	0.42072	0.586000	0.80456	GGA		PASS	0.527	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		25	20	25	20	---	---	---	---
USP38	84640	broad.mit.edu	37	4	144135239	144135239	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:144135239A>G	ENST00000307017.4	+	9	2616	c.2110A>G	c.(2110-2112)Aaa>Gaa	p.K704E	USP38_ENST00000510377.1_Missense_Mutation_p.K704E	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	704	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.K704E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TCTTGTTAATAAAGATGTACC	0.368																																						uc003ijb.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(2110-2112)AAA>GAA		ubiquitin specific peptidase 38							44.0	48.0	46.0					4																	144135239		2202	4298	6500	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144135239A>G	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2110A>G	4.37:g.144135239A>G	ENSP00000303434:p.Lys704Glu					USP38_uc003ija.3_Missense_Mutation_p.K704E|USP38_uc003ijc.2_RNA	p.K704E	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			9	2644	+	all_hematologic(180;0.158)		704					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.2110A>G	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	A	6.954	0.545877	0.13312	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.07908	3.15;3.16	5.78	4.61	0.57282	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.532611	0.22166	N	0.063701	T	0.04907	0.0132	N	0.22421	0.69	0.21499	N	0.99967	B;B	0.06786	0.001;0.001	B;B	0.11329	0.004;0.006	T	0.44081	-0.9351	10	0.02654	T	1	-8.2799	8.6725	0.34159	0.7898:0.0:0.2102:0.0	.	704;704	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	E	704	ENSP00000427647:K704E;ENSP00000303434:K704E	ENSP00000303434:K704E	K	+	1	0	USP38	144354689	0.605000	0.26941	0.978000	0.43139	0.866000	0.49608	0.677000	0.25262	1.026000	0.39733	-0.326000	0.08463	AAA		PASS	0.368	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		52	81	52	81	---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154624999	154624999	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:154624999A>G	ENST00000260010.6	+	1	2348	c.940A>G	c.(940-942)Atc>Gtc	p.I314V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	314					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.I314V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AACGTTAACAATCCGGAGGCT	0.338																																						uc003inq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(940-942)ATC>GTC		toll-like receptor 2 precursor							68.0	71.0	70.0					4																	154624999		2203	4299	6502	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624999A>G	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.940A>G	4.37:g.154624999A>G	ENSP00000260010:p.Ile314Val					TLR2_uc003inr.2_Missense_Mutation_p.I314V|TLR2_uc003ins.2_Missense_Mutation_p.I314V	p.I314V	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	1159	+	all_hematologic(180;0.093)	Renal(120;0.117)	314			Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.940A>G	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250344	0.22880	.	.	ENSG00000137462	ENST00000260010	T	0.54675	0.56	6.06	-0.767	0.11016	.	0.268437	0.38217	N	0.001775	T	0.31734	0.0806	N	0.26162	0.8	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.10359	-1.0633	10	0.41790	T	0.15	.	5.6233	0.17469	0.6265:0.0:0.2611:0.1124	.	314	O60603	TLR2_HUMAN	V	314	ENSP00000260010:I314V	ENSP00000260010:I314V	I	+	1	0	TLR2	154844449	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.177000	0.16801	-0.310000	0.08766	-0.274000	0.10170	ATC		PASS	0.338	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			4	154	4	154	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155287483	155287483	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:155287483C>A	ENST00000357232.4	-	5	572	c.573G>T	c.(571-573)caG>caT	p.Q191H	DCHS2_ENST00000339452.1_Missense_Mutation_p.Q785H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	191	Cadherin 2. {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.Q191H(1)|p.Q785H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGGTGCCTGGCTGGGTCTCAT	0.498																																						uc003inw.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(571-573)CAG>CAT		dachsous 2 isoform 1							191.0	154.0	167.0					4																	155287483		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155287483C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.573G>T	4.37:g.155287483C>A	ENSP00000349768:p.Gln191His					DCHS2_uc003inx.2_Missense_Mutation_p.Q785H	p.Q191H	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	5	573	-	all_hematologic(180;0.208)	Renal(120;0.0854)	191			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.573G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309108	0.40895	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.59364	0.27;0.64	5.69	2.99	0.34606	Cadherin (3);Cadherin-like (1);	0.122077	0.36002	N	0.002841	T	0.61664	0.2365	L	0.39397	1.21	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.915	T	0.60929	-0.7165	10	0.66056	D	0.02	.	5.9454	0.19215	0.1331:0.6565:0.0:0.2104	.	785;191	E9PC11;Q6V1P9	.;PCD23_HUMAN	H	191;785;785	ENSP00000349768:Q191H;ENSP00000345062:Q785H	ENSP00000345062:Q785H	Q	-	3	2	DCHS2	155506933	1.000000	0.71417	0.478000	0.27316	0.508000	0.34012	0.882000	0.28186	0.741000	0.32674	0.557000	0.71058	CAG		PASS	0.498	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		32	41	32	41	---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166996093	166996093	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr4:166996093G>A	ENST00000061240.2	+	17	2899	c.2252G>A	c.(2251-2253)aGc>aAc	p.S751N	TLL1_ENST00000507499.1_Missense_Mutation_p.S774N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	751	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S751N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACGATGGGGAGCTACATGTGT	0.398																																						uc003irh.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2251-2253)AGC>AAC		tolloid-like 1 precursor							273.0	221.0	239.0					4																	166996093		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166996093G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2252G>A	4.37:g.166996093G>A	ENSP00000061240:p.Ser751Asn					TLL1_uc011cjn.1_Missense_Mutation_p.S774N|TLL1_uc011cjo.1_Missense_Mutation_p.S575N	p.S751N	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	17	2899	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	751			EGF-like 2; calcium-binding (Potential).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2252G>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317648	0.60524	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.96716	-4.1;-4.1	5.72	5.72	0.89469	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.118957	0.53938	U	0.000059	D	0.98280	0.9430	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.79784	0.993;0.977	D	0.98674	1.0689	10	0.87932	D	0	.	20.2504	0.98404	0.0:0.0:1.0:0.0	.	774;751	E9PD25;O43897	.;TLL1_HUMAN	N	751;774	ENSP00000061240:S751N;ENSP00000426082:S774N	ENSP00000061240:S751N	S	+	2	0	TLL1	167215543	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	6.230000	0.72301	2.850000	0.98022	0.650000	0.86243	AGC		PASS	0.398	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			75	122	75	122	---	---	---	---
MTMR12	54545	broad.mit.edu	37	5	32239230	32239230	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:32239230C>T	ENST00000382142.3	-	13	1391	c.1221G>A	c.(1219-1221)ctG>ctA	p.L407L	MTMR12_ENST00000264934.5_Silent_p.L407L|MTMR12_ENST00000280285.5_Silent_p.L407L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	407	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.L407L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGTCCATCATCAGTTGCACCA	0.527																																						uc003jhq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1219-1221)CTG>CTA		myotubularin related protein 12							78.0	72.0	74.0					5																	32239230		2203	4300	6503	SO:0001819	synonymous_variant	54545					cytoplasm	phosphatase activity	g.chr5:32239230C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1221G>A	5.37:g.32239230C>T						MTMR12_uc010iuk.2_Silent_p.L407L|MTMR12_uc010iul.2_Silent_p.L407L	p.L407L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			13	1391	-			407			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	ENST00000382142.3	37	c.1221G>A	CCDS34138.1																																																																																				PASS	0.527	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		36	97	36	97	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32400290	32400290	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:32400290G>A	ENST00000265069.8	-	9	1637	c.1535C>T	c.(1534-1536)tCa>tTa	p.S512L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	512					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S512L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATTTCCTGTTGACTGCAGCTT	0.323																																						uc003jhr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1534-1536)TCA>TTA		zinc finger RNA binding protein							112.0	100.0	104.0					5																	32400290		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32400290G>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1535C>T	5.37:g.32400290G>A	ENSP00000265069:p.Ser512Leu						p.S512L	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	9	1615	-			512					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.1535C>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154533	0.78114	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05319	3.46	6.16	6.16	0.99307	.	0.108957	0.64402	D	0.000010	T	0.08758	0.0217	L	0.38175	1.15	0.58432	D	0.999994	B	0.20052	0.041	B	0.16289	0.015	T	0.24584	-1.0156	10	0.41790	T	0.15	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	512	Q96KR1	ZFR_HUMAN	L	512;490	ENSP00000265069:S512L	ENSP00000265069:S512L	S	-	2	0	ZFR	32436047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.011000	0.93618	2.937000	0.99478	0.650000	0.86243	TCA		PASS	0.323	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			16	84	16	84	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33576387	33576387	+	Silent	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:33576387C>G	ENST00000504830.1	-	19	4079	c.3744G>C	c.(3742-3744)ctG>ctC	p.L1248L	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.L1163L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1248	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L1248L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGAGGGAGCAGAGTGTTGG	0.522										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3742-3744)CTG>CTC		ADAM metallopeptidase with thrombospondin type 1							149.0	149.0	149.0					5																	33576387		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576387C>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3744G>C	5.37:g.33576387C>G		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.L1163L	p.L1248L	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3907	-			1248			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3744G>C	CCDS34140.1																																																																																				PASS	0.522	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		6	373	6	373	---	---	---	---
C5orf28	64417	broad.mit.edu	37	5	43446645	43446645	+	Silent	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:43446645G>C	ENST00000500337.2	-	5	658	c.327C>G	c.(325-327)ctC>ctG	p.L109L	C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000397080.3_Silent_p.L109L|C5orf28_ENST00000512085.1_Silent_p.L109L|C5orf28_ENST00000510130.1_Silent_p.L7L|C5orf28_ENST00000537319.1_5'UTR			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	109						integral component of membrane (GO:0016021)		p.L109L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					GTCTTCGCGGGAGAGTCAAAG	0.383																																						uc003jny.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(325-327)CTC>CTG		hypothetical protein LOC64417							50.0	45.0	47.0					5																	43446645		2203	4300	6503	SO:0001819	synonymous_variant	64417					integral to membrane		g.chr5:43446645G>C	AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.327C>G	5.37:g.43446645G>C						C5orf28_uc003jnv.3_Silent_p.L109L|C5orf28_uc003jnx.2_Silent_p.L109L	p.L109L	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN			3	470	-	Lung NSC(6;2.07e-05)		109					B2RDA6|Q9H6Z2	Silent	SNP	ENST00000500337.2	37	c.327C>G	CCDS3945.1																																																																																				PASS	0.383	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		35	90	35	90	---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54640937	54640937	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:54640937G>C	ENST00000230640.5	+	10	1275	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D240H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	341					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.D341H(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTTCAGAGAAGATAATTTTAA	0.368																																					Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1021-1023)GAT>CAT		superkiller viralicidic activity 2-like 2							46.0	51.0	49.0					5																	54640937		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54640937G>C	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1021G>C	5.37:g.54640937G>C	ENSP00000230640:p.Asp341His					SKIV2L2_uc011cqi.1_Missense_Mutation_p.D240H	p.D341H	NM_015360	NP_056175	P42285	SK2L2_HUMAN			10	1287	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	341					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1021G>C	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493475	0.84962	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.34072	1.38;1.4	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	M	0.89095	3.005	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.71414	0.973;0.873	T	0.73767	-0.3879	10	0.72032	D	0.01	-29.8484	19.4792	0.95002	0.0:0.0:1.0:0.0	.	240;341	F5H7E2;P42285	.;SK2L2_HUMAN	H	341;240	ENSP00000230640:D341H;ENSP00000442583:D240H	ENSP00000230640:D341H	D	+	1	0	SKIV2L2	54676694	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.352000	0.97076	2.681000	0.91329	0.585000	0.79938	GAT		PASS	0.368	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			17	17	17	17	---	---	---	---
GIN1	54826	broad.mit.edu	37	5	102440400	102440400	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:102440400T>C	ENST00000399004.2	-	4	578	c.484A>G	c.(484-486)Ata>Gta	p.I162V	GIN1_ENST00000511400.1_5'Flank|GIN1_ENST00000508629.1_Missense_Mutation_p.I162V	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	162	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.I162V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GTCATGATTATAGCATATACA	0.358																																						uc003koa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(484-486)ATA>GTA		zinc finger, H2C2 domain containing							111.0	103.0	105.0					5																	102440400		1857	4097	5954	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102440400T>C	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.484A>G	5.37:g.102440400T>C	ENSP00000381970:p.Ile162Val					GIN1_uc003kob.1_Missense_Mutation_p.I15V|GIN1_uc003koc.1_Missense_Mutation_p.I162V	p.I162V	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	4	566	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	162			Integrase catalytic.		B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.484A>G	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	T	0.843	-0.741096	0.03088	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.40756	1.02;1.02	5.88	-2.62	0.06152	Integrase, catalytic core (2);Ribonuclease H-like (1);	0.731785	0.12470	N	0.466060	T	0.23289	0.0563	N	0.19112	0.55	0.24200	N	0.995515	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.17167	-1.0378	10	0.62326	D	0.03	-20.9525	6.7363	0.23411	0.0:0.3263:0.118:0.5557	.	162;162	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	V	162	ENSP00000381970:I162V;ENSP00000427162:I162V	ENSP00000381970:I162V	I	-	1	0	GIN1	102468299	0.923000	0.31300	0.820000	0.32676	0.019000	0.09904	-0.151000	0.10175	-0.366000	0.08064	-1.273000	0.01405	ATA		PASS	0.358	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		44	50	44	50	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515935	140515935	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:140515935G>T	ENST00000231134.5	+	1	1136	c.919G>T	c.(919-921)Gat>Tat	p.D307Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D307Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGGGCATTGGATTTCGAGGC	0.438																																						uc003liq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(919-921)GAT>TAT		protocadherin beta 5 precursor							91.0	97.0	95.0					5																	140515935		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515935G>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.919G>T	5.37:g.140515935G>T	ENSP00000231134:p.Asp307Tyr						p.D307Y	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1136	+			307			Cadherin 3.|Extracellular (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.919G>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353085	0.61293	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.65549	-0.16	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88444	0.6438	H	0.99806	4.795	0.41861	D	0.990227	D	0.89917	1.0	D	0.83275	0.996	D	0.92605	0.6094	9	0.87932	D	0	.	12.779	0.57466	0.0755:0.0:0.9245:0.0	.	307	Q9Y5E4	PCDB5_HUMAN	Y	307;91	ENSP00000231134:D307Y	ENSP00000231134:D307Y	D	+	1	0	PCDHB5	140496119	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.470000	0.66756	2.683000	0.91414	0.555000	0.69702	GAT		PASS	0.438	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		130	113	130	113	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725166	140725166	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:140725166C>T	ENST00000253812.6	+	1	1566	c.1566C>T	c.(1564-1566)taC>taT	p.Y522Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	522	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.Y522Y(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCGACTACGAGCAATTTA	0.562																																						uc003ljm.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1564-1566)TAC>TAT		protocadherin gamma subfamily A, 3 isoform 1							97.0	109.0	105.0					5																	140725166		2198	4298	6496	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725166C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1566C>T	5.37:g.140725166C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.Y282Y|PCDHGA3_uc011dap.1_Silent_p.Y522Y	p.Y522Y	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1566	+			522			Extracellular (Potential).|Cadherin 5.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1566C>T	CCDS47290.1																																																																																				PASS	0.562	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		63	67	63	67	---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	146991901	146991901	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:146991901G>T	ENST00000265272.5	-	20	2847	c.2380C>A	c.(2380-2382)Cag>Aag	p.Q794K	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q752K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q773K	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	794						Golgi apparatus (GO:0005794)		p.Q794K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTTTTCTGGATGTCTGTT	0.303																																						uc003loq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2380-2382)CAG>AAG		janus kinase and microtubule interacting protein							116.0	107.0	110.0					5																	146991901		2203	4299	6502	SO:0001583	missense	9832					Golgi apparatus		g.chr5:146991901G>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2380C>A	5.37:g.146991901G>T	ENSP00000265272:p.Gln794Lys					JAKMIP2_uc011dbx.1_Missense_Mutation_p.Q752K|JAKMIP2_uc003lor.1_Missense_Mutation_p.Q773K|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.Q794K	p.Q794K	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		20	2762	-			794			Potential.		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.2380C>A	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992523	0.93167	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.26660	1.72;1.73;1.73	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	M	0.66939	2.045	0.80722	D	1	P;P;P;P	0.43578	0.811;0.811;0.811;0.811	P;P;P;P	0.57846	0.828;0.828;0.828;0.828	T	0.10776	-1.0615	10	0.24483	T	0.36	.	19.4407	0.94820	0.0:0.0:1.0:0.0	.	752;794;773;794	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	K	773;794;752;773	ENSP00000421398:Q773K;ENSP00000265272:Q794K;ENSP00000328989:Q752K	ENSP00000265272:Q794K	Q	-	1	0	JAKMIP2	146972094	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.164000	0.94755	2.677000	0.91161	0.655000	0.94253	CAG		PASS	0.303	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		6	18	6	18	---	---	---	---
ANXA6	309	broad.mit.edu	37	5	150484827	150484827	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr5:150484827G>C	ENST00000354546.5	-	24	2045	c.1818C>G	c.(1816-1818)gaC>gaG	p.D606E	ANXA6_ENST00000356496.5_Missense_Mutation_p.D600E|ANXA6_ENST00000523714.1_Missense_Mutation_p.D574E|ANXA6_ENST00000377751.5_Missense_Mutation_p.D263E|ANXA6_ENST00000521512.1_Missense_Mutation_p.D393E	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	606					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.D652E(1)|p.D606E(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTAAAGTTTGTCGGCAAAGA	0.478																																						uc003ltl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1816-1818)GAC>GAG		annexin VI isoform 1							167.0	158.0	161.0					5																	150484827		1959	4158	6117	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150484827G>C	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1818C>G	5.37:g.150484827G>C	ENSP00000346550:p.Asp606Glu					ANXA6_uc011dcp.1_Missense_Mutation_p.D574E|ANXA6_uc003ltm.1_Missense_Mutation_p.D600E|ANXA6_uc003ltn.1_Missense_Mutation_p.D393E|ANXA6_uc003lto.1_Missense_Mutation_p.D193E	p.D606E	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		24	1970	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	606					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1818C>G	CCDS47315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.894|1.894	-0.454756|-0.454756	0.04540|0.04540	.|.	.|.	ENSG00000197043|ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153|ENST00000522664	T;T;T;T;T|.	0.02631|.	4.22;4.22;4.22;4.22;4.22|.	5.09|5.09	1.77|1.77	0.24775|0.24775	.|.	0.056107|.	0.64402|.	D|.	0.000002|.	T|T	0.18635|0.18635	0.0447|0.0447	N|N	0.02420|0.02420	-0.555|-0.555	0.49213|0.49213	D|D	0.999764|0.999764	B;B;B|.	0.23377|.	0.084;0.035;0.02|.	B;B;B|.	0.33960|.	0.173;0.041;0.059|.	T|T	0.03630|0.03630	-1.1018|-1.1018	10|5	0.02654|.	T|.	1|.	.|.	5.5184|5.5184	0.16919|0.16919	0.2859:0.1502:0.5639:0.0|0.2859:0.1502:0.5639:0.0	.|.	393;600;606|.	E5RK69;A6NN80;P08133|.	.;.;ANXA6_HUMAN|.	E|E	606;574;263;600;393;480|3	ENSP00000346550:D606E;ENSP00000430517:D574E;ENSP00000366980:D263E;ENSP00000348889:D600E;ENSP00000430420:D393E|.	ENSP00000346550:D606E|.	D|Q	-|-	3|1	2|0	ANXA6|ANXA6	150465020|150465020	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.952000|0.952000	0.60782|0.60782	0.507000|0.507000	0.22675|0.22675	0.529000|0.529000	0.28599|0.28599	-0.140000|-0.140000	0.14226|0.14226	GAC|CAA		PASS	0.478	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		17	26	17	26	---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27880034	27880034	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:27880034A>G	ENST00000303324.2	-	1	140	c.64T>C	c.(64-66)Tgg>Cgg	p.W22R		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W22R(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATCTCTAGCCATGGTTGATCT	0.363																																						uc011dkw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)TGG>CGG		olfactory receptor, family 2, subfamily B,							78.0	80.0	79.0					6																	27880034		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27880034A>G	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.64T>C	6.37:g.27880034A>G	ENSP00000304419:p.Trp22Arg						p.W22R	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	64	-			22			Extracellular (Potential).		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.64T>C	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	a	0.527	-0.859449	0.02610	.	.	ENSG00000168131	ENST00000303324	T	0.01043	5.41	4.13	1.67	0.24075	.	0.434705	0.17043	U	0.189257	T	0.00210	0.0006	N	0.04116	-0.275	0.19575	N	0.999968	B	0.20261	0.043	B	0.17979	0.02	T	0.32348	-0.9910	10	0.22109	T	0.4	.	4.1142	0.10074	0.6224:0.1773:0.2003:0.0	.	22	Q9GZK3	OR2B2_HUMAN	R	22	ENSP00000304419:W22R	ENSP00000304419:W22R	W	-	1	0	OR2B2	27988013	0.000000	0.05858	0.955000	0.39395	0.020000	0.10135	-0.680000	0.05197	0.222000	0.20900	-0.359000	0.07587	TGG		PASS	0.363	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			38	112	38	112	---	---	---	---
STK38	11329	broad.mit.edu	37	6	36485579	36485579	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:36485579C>A	ENST00000229812.7	-	6	714	c.429G>T	c.(427-429)gaG>gaT	p.E143D		NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.E143D(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACTGTCTGCCTCCACTAGAA	0.413																																					Colon(180;997 3561 16158)	uc003omg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(427-429)GAG>GAT		serine/threonine kinase 38							125.0	113.0	117.0					6																	36485579		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36485579C>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.429G>T	6.37:g.36485579C>A	ENSP00000229812:p.Glu143Asp					STK38_uc003omh.2_Missense_Mutation_p.E143D|STK38_uc003omi.2_Missense_Mutation_p.E143D	p.E143D	NM_007271	NP_009202	Q15208	STK38_HUMAN			5	1017	-			143			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.429G>T	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838990	0.71373	.	.	ENSG00000112079	ENST00000229812	T	0.66460	-0.21	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	N	0.16130	0.375	0.80722	D	1	B	0.20550	0.046	B	0.37943	0.261	T	0.47289	-0.9129	10	0.41790	T	0.15	.	12.9481	0.58384	0.0:0.8854:0.0:0.1146	.	143	Q15208	STK38_HUMAN	D	143	ENSP00000229812:E143D	ENSP00000229812:E143D	E	-	3	2	STK38	36593557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.035000	0.30216	2.776000	0.95493	0.655000	0.94253	GAG		PASS	0.413	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		58	125	58	125	---	---	---	---
FGD2	221472	broad.mit.edu	37	6	36982742	36982742	+	Silent	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:36982742C>G	ENST00000274963.8	+	8	1128	c.957C>G	c.(955-957)acC>acG	p.T319T		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	319	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.T319T(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCTCTAACACCCTGCTCCGTG	0.632																																						uc010jwp.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						c.(955-957)ACC>ACG		FYVE, RhoGEF and PH domain containing 2							81.0	70.0	73.0					6																	36982742		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36982742C>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.957C>G	6.37:g.36982742C>G						FGD2_uc003ong.2_Silent_p.T41T|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Silent_p.T125T	p.T319T	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN			8	1128	+			319			PH 1.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.957C>G	CCDS4829.1																																																																																				PASS	0.632	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		23	61	23	61	---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42613251	42613251	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:42613251A>G	ENST00000372899.1	+	21	2590	c.2332A>G	c.(2332-2334)Atc>Gtc	p.I778V	UBR2_ENST00000372901.1_Missense_Mutation_p.I778V|UBR2_ENST00000372883.3_Missense_Mutation_p.I282V	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	778					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I778V(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACAGATGAAATCAAGCGAGA	0.343																																						uc011dur.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2332-2334)ATC>GTC		ubiquitin protein ligase E3 component n-recognin							127.0	121.0	123.0					6																	42613251		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42613251A>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2332A>G	6.37:g.42613251A>G	ENSP00000361990:p.Ile778Val					UBR2_uc011dus.1_Missense_Mutation_p.I423V|UBR2_uc003osh.2_RNA	p.I778V	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		21	2332	+	Colorectal(47;0.196)		778					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2332A>G	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084924	0.36758	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.51071	0.72;0.72;0.72	5.5	4.35	0.52113	.	0.149231	0.64402	D	0.000013	T	0.16171	0.0389	N	0.20807	0.61	0.50467	D	0.999875	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.005	T	0.04386	-1.0955	10	0.30078	T	0.28	-18.3012	11.4178	0.49962	0.9291:0.0:0.0709:0.0	.	778;778	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	V	778;778;282	ENSP00000361990:I778V;ENSP00000361992:I778V;ENSP00000361974:I282V	ENSP00000361974:I282V	I	+	1	0	UBR2	42721229	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.493000	0.60341	1.043000	0.40175	0.477000	0.44152	ATC		PASS	0.343	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		54	117	54	117	---	---	---	---
CRIP3	401262	broad.mit.edu	37	6	43275417	43275417	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:43275417G>A	ENST00000274990.4	-	4	265	c.261C>T	c.(259-261)acC>acT	p.T87T	ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000372569.3_Silent_p.T87T			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	87					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.T87T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGAGAGGAGTGGTGCAGCCAG	0.612																																						uc010jyn.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(259-261)ACC>ACT		cysteine-rich protein 3							47.0	52.0	50.0					6																	43275417		2203	4300	6503	SO:0001819	synonymous_variant	401262					cytoplasm	zinc ion binding	g.chr6:43275417G>A	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.261C>T	6.37:g.43275417G>A						CRIP3_uc003ouu.1_Silent_p.T87T	p.T87T	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		4	261	-			87					A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Silent	SNP	ENST00000274990.4	37	c.261C>T		.	.	.	.	.	.	.	.	.	.	G	2.851	-0.238404	0.05944	.	.	ENSG00000146215	ENST00000416431	.	.	.	5.28	-0.0221	0.13948	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.32833	D	0.504361	.	.	.	.	.	.	T	0.10776	-1.0615	4	.	.	.	-38.1995	5.3044	0.15795	0.3132:0.0:0.5549:0.1319	.	.	.	.	Y	35	.	.	H	-	1	0	CRIP3	43383395	0.118000	0.22208	0.064000	0.19789	0.491000	0.33493	1.011000	0.29911	0.042000	0.15717	-0.136000	0.14681	CAC		PASS	0.612	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			39	93	39	93	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51798958	51798958	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:51798958G>A	ENST00000371117.3	-	37	6346	c.6071C>T	c.(6070-6072)cCc>cTc	p.P2024L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2024L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2024	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P2024L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACTCCATAGGGAAAGAAGGG	0.507											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(6070-6072)CCC>CTC		fibrocystin isoform 1							109.0	98.0	102.0					6																	51798958		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51798958G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6071C>T	6.37:g.51798958G>A	ENSP00000360158:p.Pro2024Leu		OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_uc010jzn.1_Missense_Mutation_p.P49L|PKHD1_uc003pai.2_Missense_Mutation_p.P2024L	p.P2024L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			37	6347	-	Lung NSC(77;0.0605)		2024			Extracellular (Potential).|G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6071C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123738	0.20959	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88741	-2.42;-2.42	5.5	5.5	0.81552	G8 domain (2);	0.150739	0.46758	D	0.000276	D	0.88407	0.6428	L	0.39147	1.195	0.50632	D	0.999889	D;P;D	0.71674	0.957;0.459;0.998	D;P;D	0.75020	0.925;0.515;0.985	D	0.84683	0.0718	10	0.09338	T	0.73	.	18.3734	0.90420	0.0:0.0:1.0:0.0	.	2024;2024;2024	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	2024	ENSP00000360158:P2024L;ENSP00000341097:P2024L	ENSP00000341097:P2024L	P	-	2	0	PKHD1	51906917	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	5.345000	0.65987	2.565000	0.86533	0.655000	0.94253	CCC		PASS	0.507	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		39	92	39	92	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51890901	51890901	+	Missense_Mutation	SNP	G	G	T	rs542983527		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:51890901G>T	ENST00000371117.3	-	32	3982	c.3707C>A	c.(3706-3708)tCc>tAc	p.S1236Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1236Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1236	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S1236Y(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATGTCACAGGACCGATTGCC	0.562																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3706-3708)TCC>TAC		fibrocystin isoform 1							66.0	66.0	66.0					6																	51890901		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890901G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3707C>A	6.37:g.51890901G>T	ENSP00000360158:p.Ser1236Tyr					PKHD1_uc003pai.2_Missense_Mutation_p.S1236Y	p.S1236Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	3983	-	Lung NSC(77;0.0605)		1236			Extracellular (Potential).|IPT/TIG 7.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3707C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811781	0.50527	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.76578	-1.03;-1.03	5.87	5.87	0.94306	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.408100	0.24325	N	0.039508	T	0.76205	0.3955	L	0.59436	1.845	0.28990	N	0.888095	P;P	0.48589	0.892;0.912	P;P	0.51487	0.542;0.671	T	0.73173	-0.4066	10	0.46703	T	0.11	.	17.3617	0.87353	0.0:0.0:1.0:0.0	.	1236;1236	P08F94-2;P08F94	.;PKHD1_HUMAN	Y	1236	ENSP00000360158:S1236Y;ENSP00000341097:S1236Y	ENSP00000341097:S1236Y	S	-	2	0	PKHD1	51998860	1.000000	0.71417	0.939000	0.37840	0.021000	0.10359	4.810000	0.62598	2.780000	0.95670	0.655000	0.94253	TCC		PASS	0.562	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		37	66	37	66	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	71003996	71003996	+	Silent	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:71003996A>G	ENST00000357250.6	-	5	728	c.570T>C	c.(568-570)agT>agC	p.S190S	COL9A1_ENST00000370496.3_Silent_p.S190S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	190	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.S190S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GAGTAGCACTACTCCTCTCCA	0.448																																						uc003pfg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(568-570)AGT>AGC		alpha 1 type IX collagen isoform 1 precursor							136.0	132.0	133.0					6																	71003996		2203	4300	6503	SO:0001819	synonymous_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71003996A>G		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.570T>C	6.37:g.71003996A>G							p.S190S	NM_001851	NP_001842	P20849	CO9A1_HUMAN			5	729	-			190			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	c.570T>C	CCDS4971.1																																																																																				PASS	0.448	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			92	230	92	230	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83869602	83869602	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:83869602A>C	ENST00000349129.2	+	37	7145	c.6885A>C	c.(6883-6885)ttA>ttC	p.L2295F	DOPEY1_ENST00000369739.3_Missense_Mutation_p.L2286F|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L2179F|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2295					protein transport (GO:0015031)			p.L2295F(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGCGGTGGTTAAACCTCTATC	0.458																																						uc003pjs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(6883-6885)TTA>TTC		dopey family member 1							114.0	113.0	113.0					6																	83869602		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83869602A>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6885A>C	6.37:g.83869602A>C	ENSP00000195654:p.Leu2295Phe					DOPEY1_uc011dyy.1_Missense_Mutation_p.L2286F|DOPEY1_uc010kbl.1_Missense_Mutation_p.L2286F|DOPEY1_uc003pjt.2_RNA	p.L2295F	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	37	7145	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2295					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.6885A>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.925643	0.52759	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.49432	0.78;0.78	5.55	4.4	0.53042	.	0.065481	0.64402	N	0.000008	T	0.54143	0.1840	M	0.69523	2.12	0.80722	D	1	B;D;D	0.76494	0.011;0.999;0.999	B;D;D	0.81914	0.012;0.995;0.995	T	0.56505	-0.7968	10	0.44086	T	0.13	.	8.8669	0.35291	0.8594:0.0:0.1406:0.0	.	2186;2286;2295	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	F	2295;2179;2179	ENSP00000195654:L2295F;ENSP00000237163:L2179F	ENSP00000237163:L2179F	L	+	3	2	DOPEY1	83926321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.021000	0.41020	2.106000	0.64143	0.533000	0.62120	TTA		PASS	0.458	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		30	87	30	87	---	---	---	---
RIPPLY2	134701	broad.mit.edu	37	6	84563453	84563453	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:84563453C>T	ENST00000369689.1	+	2	286	c.135C>T	c.(133-135)ggC>ggT	p.G45G	RIPPLY2_ENST00000369687.1_5'UTR	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	45					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)		p.G45G(1)		large_intestine(2)|lung(4)|urinary_tract(1)	7						ACGCCGGAGGCAAGAAAGAAG	0.672																																						uc003pke.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)GGC>GGT		ripply2 protein							24.0	32.0	29.0					6																	84563453		2198	4286	6484	SO:0001819	synonymous_variant	134701				somite rostral/caudal axis specification	nucleus		g.chr6:84563453C>T	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.135C>T	6.37:g.84563453C>T							p.G45G	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN			2	286	+			45					Q5TAB6	Silent	SNP	ENST00000369689.1	37	c.135C>T	CCDS34493.1																																																																																				PASS	0.672	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		6	22	6	22	---	---	---	---
GPR63	81491	broad.mit.edu	37	6	97247000	97247000	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:97247000C>A	ENST00000229955.3	-	2	953	c.608G>T	c.(607-609)tGg>tTg	p.W203L	GPR63_ENST00000417980.1_Missense_Mutation_p.W203L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.W203L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGAAGTTGCCCAAGAAACTGC	0.463																																						uc010kcl.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(607-609)TGG>TTG		G protein-coupled receptor 63							79.0	76.0	77.0					6																	97247000		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247000C>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.608G>T	6.37:g.97247000C>A	ENSP00000229955:p.Trp203Leu					GPR63_uc003pou.2_Missense_Mutation_p.W203L	p.W203L	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1086	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	203			Helical; Name=4; (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.608G>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640952	0.67244	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	D;D;D	0.88741	-2.42;-2.42;-2.42	5.3	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96905	0.9663	10	0.87932	D	0	-1.9613	14.211	0.65764	0.0:0.9276:0.0:0.0724	.	203	Q9BZJ6	GPR63_HUMAN	L	227;203;203;203	ENSP00000393170:W203L;ENSP00000229955:W203L;ENSP00000358273:W203L	ENSP00000229955:W203L	W	-	2	0	GPR63	97353721	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.445000	0.80570	1.388000	0.46506	-0.142000	0.14014	TGG		PASS	0.463	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			55	126	55	126	---	---	---	---
TMEM244	253582	broad.mit.edu	37	6	130154674	130154674	+	Missense_Mutation	SNP	C	C	G	rs148503789		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:130154674C>G	ENST00000368143.1	-	4	332	c.250G>C	c.(250-252)Gtt>Ctt	p.V84L	TMEM244_ENST00000438392.1_Missense_Mutation_p.V84L	NM_001010876.1	NP_001010876.1	Q5VVB8	TM244_HUMAN	transmembrane protein 244	84						integral component of membrane (GO:0016021)		p.V84L(1)									TCTTCCACAACTGGAACAAAA	0.348																																						uc003qbs.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(250-252)GTT>CTT		hypothetical protein LOC253582							133.0	129.0	130.0					6																	130154674		2203	4300	6503	SO:0001583	missense	253582					integral to membrane		g.chr6:130154674C>G		CCDS34536.1	6q22.33	2012-02-21	2012-02-21	2012-02-21	ENSG00000203756	ENSG00000203756			21571	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 191"""	C6orf191			Standard	NM_001010876		Approved	bA174C7.4	uc003qbs.3	Q5VVB8	OTTHUMG00000015553	ENST00000368143.1:c.250G>C	6.37:g.130154674C>G	ENSP00000357125:p.Val84Leu						p.V84L	NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)	4	333	-			84			Helical; (Potential).			Missense_Mutation	SNP	ENST00000368143.1	37	c.250G>C	CCDS34536.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007786	0.35415	.	.	ENSG00000203756	ENST00000368143;ENST00000438392	T;T	0.37752	1.18;1.18	4.13	0.132	0.14762	.	0.299670	0.31257	N	0.007962	T	0.11922	0.0290	L	0.48642	1.525	0.26516	N	0.9745	P	0.35348	0.496	B	0.34242	0.178	T	0.14392	-1.0474	10	0.38643	T	0.18	-18.1394	8.1774	0.31289	0.0:0.6081:0.0:0.3919	.	84	Q5VVB8	CF191_HUMAN	L	84	ENSP00000357125:V84L;ENSP00000403755:V84L	ENSP00000357125:V84L	V	-	1	0	C6orf191	130196367	0.895000	0.30542	0.204000	0.23530	0.988000	0.76386	-0.046000	0.11983	0.096000	0.17463	0.650000	0.86243	GTT		PASS	0.348	TMEM244-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042194.1	NM_001010876		30	134	30	134	---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130762304	130762304	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:130762304T>G	ENST00000296978.3	+	3	1608	c.737T>G	c.(736-738)tTg>tGg	p.L246W	TMEM200A_ENST00000545622.1_Missense_Mutation_p.L246W|TMEM200A_ENST00000392429.1_Missense_Mutation_p.L246W	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	246						integral component of membrane (GO:0016021)		p.L246W(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATGCCCCCTTTGCTCTCTGAC	0.473																																						uc003qca.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(736-738)TTG>TGG		transmembrane protein 200A							74.0	71.0	72.0					6																	130762304		2203	4299	6502	SO:0001583	missense	114801					integral to membrane		g.chr6:130762304T>G	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.737T>G	6.37:g.130762304T>G	ENSP00000296978:p.Leu246Trp					TMEM200A_uc010kfh.2_Missense_Mutation_p.L246W|TMEM200A_uc010kfi.2_Missense_Mutation_p.L246W|TMEM200A_uc003qcb.2_Missense_Mutation_p.L246W	p.L246W	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1608	+			246			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.737T>G	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746383	0.69418	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.140036	0.47852	D	0.000217	T	0.67543	0.2904	L	0.59436	1.845	0.50632	D	0.999887	D	0.71674	0.998	P	0.59703	0.862	T	0.71626	-0.4536	9	0.66056	D	0.02	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	246	Q86VY9	T200A_HUMAN	W	246	.	ENSP00000296978:L246W	L	+	2	0	TMEM200A	130803997	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.976000	0.56867	2.263000	0.75096	0.533000	0.62120	TTG		PASS	0.473	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		48	109	48	109	---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132909864	132909864	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:132909864C>A	ENST00000258034.2	-	1	1013	c.962G>T	c.(961-963)aGc>aTc	p.S321I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	321					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.S321I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GACCTTCTGGCTCAGTGTGAG	0.458																																						uc003qdk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(961-963)AGC>ATC		trace amine associated receptor 5							102.0	97.0	99.0					6																	132909864		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132909864C>A	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.962G>T	6.37:g.132909864C>A	ENSP00000258034:p.Ser321Ile						p.S321I	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	1014	-	Breast(56;0.112)		321			Cytoplasmic (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.962G>T	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.467250	0.01053	.	.	ENSG00000135569	ENST00000258034	T	0.38077	1.16	5.47	3.6	0.41247	.	0.173606	0.39020	N	0.001491	T	0.37128	0.0992	M	0.77103	2.36	0.09310	N	1	D	0.52996	0.957	P	0.53549	0.729	T	0.14531	-1.0469	10	0.66056	D	0.02	-12.8942	11.1233	0.48304	0.121:0.4637:0.4153:0.0	.	321	O14804	TAAR5_HUMAN	I	321	ENSP00000258034:S321I	ENSP00000258034:S321I	S	-	2	0	TAAR5	132951557	0.976000	0.34144	0.733000	0.30861	0.001000	0.01503	2.447000	0.44917	1.527000	0.49086	-0.176000	0.13171	AGC		PASS	0.458	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		34	66	34	66	---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133078687	133078687	+	Splice_Site	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:133078687T>A	ENST00000326499.6	-	2	338		c.e2-2		VNN2_ENST00000526192.1_Splice_Site|VNN2_ENST00000525270.1_Splice_Site|VNN2_ENST00000525289.1_Splice_Site	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2						cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCGAGCACCCTGTTCAAAACA	0.433																																						uc003qdt.2																			1	Unknown(1)		lung(1)		0						c.e2-1		vanin 2 isoform 1 precursor							94.0	94.0	94.0					6																	133078687		2203	4300	6503	SO:0001630	splice_region_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133078687T>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.214-2A>T	6.37:g.133078687T>A						VNN2_uc003qds.2_Splice_Site|VNN2_uc010kgb.2_Splice_Site_p.G72_splice|VNN2_uc003qdv.2_Splice_Site_p.G19_splice	p.G72_splice	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	2	225	-								A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Splice_Site	SNP	ENST00000326499.6	37	c.214_splice	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893475	0.33442	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289;ENST00000524919;ENST00000530536;ENST00000532012	.	.	.	5.6	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84	0.23957	0.1139:0.1329:0.0:0.7532	.	.	.	.	.	-1	.	.	.	-	.	.	VNN2	133120380	1.000000	0.71417	0.729000	0.30791	0.751000	0.42716	3.330000	0.52068	1.052000	0.40392	0.496000	0.49642	.		PASS	0.433	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2		Intron	52	124	52	124	---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133078907	133078907	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:133078907T>C	ENST00000326499.6	-	1	240	c.116A>G	c.(115-117)aAt>aGt	p.N39S	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Intron|VNN2_ENST00000525289.1_Missense_Mutation_p.N39S	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	39	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.N39S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCTGTTTTATTTGGCAAAAT	0.438																																						uc003qdt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)AAT>AGT		vanin 2 isoform 1 precursor							132.0	130.0	131.0					6																	133078907		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133078907T>C	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.116A>G	6.37:g.133078907T>C	ENSP00000322276:p.Asn39Ser					VNN2_uc003qds.2_5'Flank|VNN2_uc010kgb.2_Missense_Mutation_p.N39S|VNN2_uc003qdv.2_Intron	p.N39S	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	1	127	-			39			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.116A>G	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	t	0.013	-1.626867	0.00813	.	.	ENSG00000112303	ENST00000326499;ENST00000525289;ENST00000524919;ENST00000532012	D;D;D;T	0.87571	-2.27;-2.16;-1.6;-1.39	5.59	4.43	0.53597	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	1.083630	0.07037	N	0.829506	T	0.63141	0.2486	L	0.43152	1.355	0.09310	N	1	B;B	0.15473	0.013;0.005	B;B	0.12156	0.007;0.007	T	0.55897	-0.8068	10	0.07325	T	0.83	-4.7998	5.636	0.17536	0.0:0.1941:0.1387:0.6672	.	39;39	O95498-2;O95498	.;VNN2_HUMAN	S	39	ENSP00000322276:N39S;ENSP00000436935:N39S;ENSP00000431451:N39S;ENSP00000431680:N39S	ENSP00000322276:N39S	N	-	2	0	VNN2	133120600	0.007000	0.16637	0.672000	0.29872	0.005000	0.04900	0.936000	0.28938	1.065000	0.40693	0.492000	0.49549	AAT		PASS	0.438	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			8	286	8	286	---	---	---	---
VTA1	51534	broad.mit.edu	37	6	142539763	142539763	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:142539763A>G	ENST00000367630.4	+	8	965	c.907A>G	c.(907-909)Acg>Gcg	p.T303A	VTA1_ENST00000367621.1_Missense_Mutation_p.T245A|VTA1_ENST00000452973.2_Missense_Mutation_p.T218A	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	303	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.T303A(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAAGTTACTGACGACAGGCAG	0.438																																						uc003qiw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)ACG>GCG		Vps20-associated 1 homolog							62.0	60.0	61.0					6																	142539763		2203	4298	6501	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142539763A>G	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.907A>G	6.37:g.142539763A>G	ENSP00000356602:p.Thr303Ala					VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Missense_Mutation_p.T218A	p.T303A	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	8	922	+	Breast(32;0.155)		303			Interaction with VPS4B (By similarity).		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.907A>G	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596636	0.86953	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973	T;T;T	0.43688	0.94;0.94;0.94	5.89	5.89	0.94794	.	0.046763	0.85682	D	0.000000	T	0.40067	0.1102	L	0.49350	1.555	0.80722	D	1	D;P	0.53462	0.96;0.759	P;P	0.51055	0.657;0.519	T	0.31194	-0.9952	10	0.54805	T	0.06	-17.5786	16.371	0.83361	1.0:0.0:0.0:0.0	.	218;303	E7ETQ7;Q9NP79	.;VTA1_HUMAN	A	303;245;218	ENSP00000356602:T303A;ENSP00000356593:T245A;ENSP00000395767:T218A	ENSP00000356593:T245A	T	+	1	0	VTA1	142581456	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	8.772000	0.91757	2.262000	0.75019	0.529000	0.55759	ACG		PASS	0.438	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		50	93	50	93	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152546946	152546946	+	Silent	SNP	A	A	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:152546946A>C	ENST00000367255.5	-	116	21862	c.21261T>G	c.(21259-21261)gcT>gcG	p.A7087A	SYNE1_ENST00000265368.4_Silent_p.A7087A|SYNE1_ENST00000356820.4_Silent_p.A1611A|SYNE1_ENST00000341594.5_Silent_p.A6699A|SYNE1_ENST00000423061.1_Silent_p.A7016A|SYNE1_ENST00000448038.1_Silent_p.A7016A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7087					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A7087A(2)|p.A7016A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGAATCAAAGCAAGTCCAT	0.363										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(21259-21261)GCT>GCG		spectrin repeat containing, nuclear envelope 1							192.0	184.0	186.0					6																	152546946		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152546946A>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21261T>G	6.37:g.152546946A>C		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.A1611A|SYNE1_uc003qos.3_Silent_p.A1611A|SYNE1_uc003qot.3_Silent_p.A7016A|SYNE1_uc003qou.3_Silent_p.A7087A|SYNE1_uc003qor.3_5'UTR	p.A7087A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	116	21863	-		Ovarian(120;0.0955)	7087			Cytoplasmic (Potential).|Spectrin 22.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.21261T>G	CCDS5236.2																																																																																				PASS	0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		61	143	61	143	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	162394383	162394383	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr6:162394383T>A	ENST00000366898.1	-	6	787	c.685A>T	c.(685-687)Atc>Ttc	p.I229F	PARK2_ENST00000366896.1_Missense_Mutation_p.I80F|PARK2_ENST00000366897.1_Missense_Mutation_p.I201F|PARK2_ENST00000366892.1_Missense_Mutation_p.I229F|PARK2_ENST00000366894.1_Missense_Mutation_p.I38F|PARK2_ENST00000338468.3_Missense_Mutation_p.I38F	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	229	SYT11 binding 1.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.I229F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTTGTTGCGATCAGGTGCAAA	0.428																																						uc003qtx.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(685-687)ATC>TTC		parkin isoform 1							234.0	183.0	200.0					6																	162394383		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162394383T>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.685A>T	6.37:g.162394383T>A	ENSP00000355865:p.Ile229Phe					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.I38F|PARK2_uc003qtw.3_Missense_Mutation_p.I38F|PARK2_uc003qty.3_Missense_Mutation_p.I201F|PARK2_uc003qtz.3_Missense_Mutation_p.I80F|PARK2_uc010kke.1_Missense_Mutation_p.I229F	p.I229F	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	6	819	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	229			SYT11 binding 1.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.685A>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074589	0.36566	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.94758	-3.18;-3.22;-3.29;-2.72;-2.72;-3.51	5.01	5.01	0.66863	.	0.135524	0.48767	D	0.000161	D	0.96568	0.8880	M	0.82823	2.61	0.44042	D	0.996776	P;D;P;B;P	0.65815	0.731;0.995;0.565;0.415;0.768	B;D;B;B;B	0.72982	0.299;0.979;0.19;0.19;0.277	D	0.97253	0.9899	10	0.87932	D	0	.	12.6109	0.56549	0.0:0.0:0.0:1.0	.	229;80;201;229;38	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	F	229;201;80;38;38;38;229;150	ENSP00000355865:I229F;ENSP00000355863:I201F;ENSP00000355862:I80F;ENSP00000355860:I38F;ENSP00000343589:I38F;ENSP00000355858:I229F	ENSP00000343589:I38F	I	-	1	0	PARK2	162314373	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	2.825000	0.48096	2.028000	0.59812	0.529000	0.55759	ATC		PASS	0.428	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			6	135	6	135	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24881927	24881927	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:24881927G>C	ENST00000313367.2	-	13	1823	c.1372C>G	c.(1372-1374)Ctg>Gtg	p.L458V	OSBPL3_ENST00000396431.1_Missense_Mutation_p.L427V|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L427V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L391V|OSBPL3_ENST00000353930.1_Missense_Mutation_p.L422V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.L391V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L422V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	458					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.L458V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGAGATAACAGAACTTCCTGA	0.403																																						uc003sxf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1372-1374)CTG>GTG		oxysterol-binding protein-like protein 3 isoform							198.0	215.0	209.0					7																	24881927		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24881927G>C	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1372C>G	7.37:g.24881927G>C	ENSP00000315410:p.Leu458Val					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.L422V|OSBPL3_uc003sxh.2_Missense_Mutation_p.L427V|OSBPL3_uc003sxi.2_Missense_Mutation_p.L391V|OSBPL3_uc003sxj.1_Missense_Mutation_p.L187V|OSBPL3_uc003sxk.1_Missense_Mutation_p.L156V	p.L458V	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			13	1777	-			458					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1372C>G	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377105	0.61735	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.48522	2.13;0.81;0.89;2.2;0.81;0.89;2.2	5.44	4.44	0.53790	.	0.000000	0.64402	D	0.000001	T	0.60702	0.2289	L	0.53729	1.69	0.51233	D	0.999913	D;D;D;D;D;D	0.89917	0.962;1.0;1.0;1.0;0.994;1.0	P;D;D;D;D;D	0.91635	0.843;0.999;0.999;0.999;0.944;0.998	T	0.56486	-0.7971	10	0.34782	T	0.22	-0.9313	12.0419	0.53458	0.1542:0.0:0.8458:0.0	.	391;422;391;427;422;458	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	V	458;427;422;391;427;422;391	ENSP00000315410:L458V;ENSP00000315331:L427V;ENSP00000315277:L422V;ENSP00000389779:L391V;ENSP00000379708:L427V;ENSP00000379706:L422V;ENSP00000386953:L391V	ENSP00000315410:L458V	L	-	1	2	OSBPL3	24848452	1.000000	0.71417	0.992000	0.48379	0.889000	0.51656	2.803000	0.47924	2.550000	0.86006	0.591000	0.81541	CTG		PASS	0.403	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			21	668	21	668	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33423374	33423374	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:33423374T>C	ENST00000242067.6	+	18	2407	c.1886T>C	c.(1885-1887)gTc>gCc	p.V629A	BBS9_ENST00000355070.2_Missense_Mutation_p.V624A|BBS9_ENST00000350941.3_Missense_Mutation_p.V589A|BBS9_ENST00000354265.4_Missense_Mutation_p.V594A|BBS9_ENST00000396127.2_Missense_Mutation_p.V594A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	629					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.V629A(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAACAGGGAGTCAAAGATTTT	0.353									Bardet-Biedl syndrome																													uc003tdn.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1885-1887)GTC>GCC		parathyroid hormone-responsive B1 isoform 2							74.0	72.0	72.0					7																	33423374		2201	4299	6500	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33423374T>C		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1886T>C	7.37:g.33423374T>C	ENSP00000242067:p.Val629Ala					BBS9_uc003tdo.1_Missense_Mutation_p.V594A|BBS9_uc003tdp.1_Missense_Mutation_p.V624A|BBS9_uc003tdq.1_Missense_Mutation_p.V589A|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.V153A|BBS9_uc003tds.1_Missense_Mutation_p.V52A|BBS9_uc003tdt.2_RNA|BBS9_uc011kao.1_Missense_Mutation_p.V507A	p.V629A	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		18	2399	+			629					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.1886T>C	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.252026	0.22880	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	6.06	3.31	0.37934	.	0.564059	0.19650	N	0.109234	T	0.08626	0.0214	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B	0.15473	0.013;0.004;0.004;0.004;0.008	B;B;B;B;B	0.28232	0.037;0.037;0.037;0.046;0.087	T	0.16453	-1.0402	10	0.07175	T	0.84	-2.1195	7.146	0.25583	0.0:0.1003:0.3263:0.5735	.	629;589;624;594;629	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	A	629;589;594;624;594;629	ENSP00000242067:V629A;ENSP00000313122:V589A;ENSP00000379433:V594A;ENSP00000347182:V624A;ENSP00000346214:V594A	ENSP00000242067:V629A	V	+	2	0	BBS9	33389899	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.190000	0.50973	0.367000	0.24454	0.528000	0.53228	GTC		PASS	0.353	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			30	93	30	93	---	---	---	---
TRGV9	6983	broad.mit.edu	37	7	38357052	38357052	+	RNA	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:38357052C>T	ENST00000444775.2	-	0	1410									T cell receptor gamma variable 9																		ACTTACGAGCCCCAAGGACTG	0.458																																						uc003tge.1																			0					0						c.(40-42)GGG>GGA		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							30.0	35.0	33.0					7																	38357052		1999	4201	6200			445347							g.chr7:38357052C>T	X07205		7p14	2012-02-07			ENSG00000211695	ENSG00000211695		"""T cell receptors / TRG locus"""	12295	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V9"""			TCRGV9		2969332, 2806544	Standard	NG_001336		Approved	V2			OTTHUMG00000155218		7.37:g.38357052C>T						uc003tfz.1_5'Flank|TARP_uc003tgf.1_5'Flank|TARP_uc003tgj.1_5'Flank|TARP_uc003tgh.1_5'Flank|TARP_uc003tgi.1_5'Flank|TARP_uc003tgg.1_5'Flank	p.G14G			A2JGV3	A2JGV3_HUMAN			2	419	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Silent	SNP	ENST00000444775.2	37	c.42G>A																																																																																					PASS	0.458	TRGV9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338824.3	NG_001336		10	11	10	11	---	---	---	---
VSTM2A	222008	broad.mit.edu	37	7	54617718	54617718	+	Silent	SNP	G	G	T	rs376317939		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:54617718G>T	ENST00000407838.3	+	4	895	c.489G>T	c.(487-489)tcG>tcT	p.S163S	VSTM2A_ENST00000302287.3_Silent_p.S163S|VSTM2A_ENST00000402613.3_Silent_p.S163S|VSTM2A_ENST00000402026.2_Silent_p.S162S|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Silent_p.S163S	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	163						extracellular region (GO:0005576)		p.S162S(1)|p.S163S(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCGAAGCCTCGCCCATGTGGC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16908	0.0		0.0	False		,,,				2504	0.001					uc010kzf.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(487-489)TCG>TCT		V-set and transmembrane domain containing 2							64.0	57.0	59.0					7																	54617718		2203	4299	6502	SO:0001819	synonymous_variant	222008					extracellular region		g.chr7:54617718G>T	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.489G>T	7.37:g.54617718G>T						VSTM2A_uc010kze.2_Silent_p.S163S|VSTM2A_uc003tqc.3_Silent_p.S163S	p.S163S	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	894	+			163					A4D2E9|B5MC94	Silent	SNP	ENST00000407838.3	37	c.489G>T	CCDS5512.2																																																																																				PASS	0.592	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		7	11	7	11	---	---	---	---
RBM48	84060	broad.mit.edu	37	7	92164118	92164118	+	Missense_Mutation	SNP	G	G	A	rs200432326		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:92164118G>A	ENST00000265732.5	+	4	892	c.851G>A	c.(850-852)cGc>cAc	p.R284H	RBM48_ENST00000481551.1_Missense_Mutation_p.R284H	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	284						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R284H(1)									CTGCAGGAGCGCAAAAGAAGA	0.428																																						uc003ulz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(850-852)CGC>CAC		hypothetical protein LOC84060		G	HIS/ARG	0,3810		0,0,1905	58.0	58.0	58.0		851	5.4	1.0	7		58	4,8210		0,4,4103	yes	missense	C7orf64	NM_032120.2	29	0,4,6008	AA,AG,GG		0.0487,0.0,0.0333	probably-damaging	284/368	92164118	4,12020	1905	4107	6012	SO:0001583	missense	84060						nucleotide binding	g.chr7:92164118G>A	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.851G>A	7.37:g.92164118G>A	ENSP00000265732:p.Arg284His					C7orf64_uc003uma.2_Missense_Mutation_p.R284H	p.R284H	NM_032120	NP_115496	Q5RL73	CG064_HUMAN			4	892	+			284					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.851G>A	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784595	0.70222	0.0	4.87E-4	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.37	5.37	0.77165	.	0.199667	0.49916	D	0.000131	T	0.76800	0.4038	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;0.966	D;B	0.79108	0.992;0.272	T	0.77892	-0.2418	9	0.87932	D	0	2.361	19.3052	0.94158	0.0:0.0:1.0:0.0	.	284;284	B7Z2K5;Q5RL73	.;CG064_HUMAN	H	284	.	ENSP00000265732:R284H	R	+	2	0	C7orf64	92002054	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.144000	0.77357	2.793000	0.96121	0.591000	0.81541	CGC		PASS	0.428	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		4	68	4	68	---	---	---	---
HEPACAM2	253012	broad.mit.edu	37	7	92838131	92838131	+	Silent	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:92838131A>G	ENST00000394468.2	-	4	851	c.774T>C	c.(772-774)ttT>ttC	p.F258F	HEPACAM2_ENST00000341723.4_Silent_p.F246F|HEPACAM2_ENST00000440868.1_Silent_p.F246F|HEPACAM2_ENST00000453812.2_Silent_p.F281F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	258	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.F246F(1)|p.F258F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGTCAACAGTAAACACTTCCC	0.383																																						uc003umm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)|kidney(1)	5						c.(772-774)TTT>TTC		HEPACAM family member 2 isoform 1							127.0	125.0	126.0					7																	92838131		2203	4300	6503	SO:0001819	synonymous_variant	253012					integral to membrane		g.chr7:92838131A>G	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.774T>C	7.37:g.92838131A>G						HEPACAM2_uc003uml.2_Silent_p.F246F|HEPACAM2_uc010lff.2_Silent_p.F246F|HEPACAM2_uc011khy.1_Silent_p.F281F	p.F258F	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			4	797	-			258			Ig-like C2-type 2.|Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.774T>C	CCDS43616.1																																																																																				PASS	0.383	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		7	189	7	189	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103338356	103338356	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:103338356T>C	ENST00000428762.1	-	10	1246	c.1087A>G	c.(1087-1089)Agt>Ggt	p.S363G	RELN_ENST00000424685.2_Missense_Mutation_p.S363G|RELN_ENST00000343529.5_Missense_Mutation_p.S363G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	363					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S363G(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGGTCGAGACTATCTTCTAAA	0.428																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1087-1089)AGT>GGT		reelin isoform a							152.0	140.0	144.0					7																	103338356		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338356T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1087A>G	7.37:g.103338356T>C	ENSP00000392423:p.Ser363Gly					RELN_uc010liz.2_Missense_Mutation_p.S363G	p.S363G	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1247	-			363					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1087A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	t	10.12	1.263604	0.23136	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23754	1.89;1.89;1.89	6.05	4.91	0.64330	.	0.430350	0.27836	N	0.017656	T	0.19725	0.0474	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14035	-1.0487	10	0.42905	T	0.14	.	11.93	0.52841	0.0:0.0672:0.0:0.9328	.	363;363	P78509-2;P78509	.;RELN_HUMAN	G	363	ENSP00000392423:S363G;ENSP00000345694:S363G;ENSP00000388446:S363G	ENSP00000345694:S363G	S	-	1	0	RELN	103125592	0.930000	0.31532	0.007000	0.13788	0.626000	0.37791	4.671000	0.61590	1.129000	0.42072	0.524000	0.50904	AGT		PASS	0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		132	80	132	80	---	---	---	---
IMPDH1	3614	broad.mit.edu	37	7	128034978	128034978	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:128034978C>T	ENST00000480861.1	-	11	1322	c.1245G>A	c.(1243-1245)atG>atA	p.M415I	IMPDH1_ENST00000378717.4_Missense_Mutation_p.M436I|IMPDH1_ENST00000419067.2_Missense_Mutation_p.M472I|IMPDH1_ENST00000343214.4_Missense_Mutation_p.M395I|IMPDH1_ENST00000338791.6_Missense_Mutation_p.M505I|IMPDH1_ENST00000348127.6_Missense_Mutation_p.M469I|IMPDH1_ENST00000470772.1_Missense_Mutation_p.M419I|IMPDH1_ENST00000354269.5_Missense_Mutation_p.M495I|IMPDH1_ENST00000496200.1_Missense_Mutation_p.M395I	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1									p.M505I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TGCTCTTCTCCATGGCATCCA	0.637																																						uc011kol.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(1258-1260)ATG>ATA		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						68.0	76.0	73.0					7																	128034978		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128034978C>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1245G>A	7.37:g.128034978C>T	ENSP00000420185:p.Met415Ile					IMPDH1_uc011kom.1_Missense_Mutation_p.M415I|IMPDH1_uc003vmt.2_Missense_Mutation_p.M395I|IMPDH1_uc003vmu.2_Missense_Mutation_p.M505I|IMPDH1_uc003vmw.2_Missense_Mutation_p.M495I|IMPDH1_uc011kon.1_Missense_Mutation_p.M472I|IMPDH1_uc003vmv.2_Missense_Mutation_p.M469I|IMPDH1_uc003vmx.2_Missense_Mutation_p.M428I|IMPDH1_uc003vmy.2_Missense_Mutation_p.M436I|uc011koo.1_5'Flank	p.M420I	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			11	1366	-			420						Missense_Mutation	SNP	ENST00000480861.1	37	c.1260G>A	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487238	0.84854	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	4.41	4.41	0.53225	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.041245	0.85682	D	0.000000	D	0.90978	0.7163	M	0.94063	3.49	0.80722	D	1	B;B;B;B;P;P;P;B	0.44946	0.318;0.447;0.399;0.342;0.728;0.702;0.846;0.392	B;B;B;B;P;B;B;B	0.52514	0.267;0.363;0.363;0.294;0.701;0.204;0.395;0.248	D	0.93308	0.6682	10	0.87932	D	0	-42.1509	14.56	0.68128	0.0:1.0:0.0:0.0	.	472;415;420;436;495;469;505;395	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	I	472;505;395;495;436;469;395;419;415	ENSP00000399400:M472I;ENSP00000345096:M505I;ENSP00000420803:M395I;ENSP00000346219:M495I;ENSP00000367989:M436I;ENSP00000265385:M469I;ENSP00000342438:M395I;ENSP00000417296:M419I;ENSP00000420185:M415I	ENSP00000345096:M505I	M	-	3	0	IMPDH1	127822214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.286000	0.78671	2.292000	0.77174	0.561000	0.74099	ATG		PASS	0.637	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		84	41	84	41	---	---	---	---
PARP12	64761	broad.mit.edu	37	7	139754535	139754535	+	Silent	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:139754535G>C	ENST00000263549.3	-	4	1662	c.789C>G	c.(787-789)tcC>tcG	p.S263S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	263						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.S263S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GAGTGTTTGGGGACACAGAAC	0.418																																						uc003vvl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(787-789)TCC>TCG		poly ADP-ribose polymerase 12							138.0	122.0	128.0					7																	139754535		2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139754535G>C	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.789C>G	7.37:g.139754535G>C						PARP12_uc003vvk.1_Silent_p.S49S|PARP12_uc010lnf.1_RNA	p.S263S	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			4	1663	-	Melanoma(164;0.0142)		263					Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.789C>G	CCDS5857.1																																																																																				PASS	0.418	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		79	58	79	58	---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150923535	150923535	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:150923535C>G	ENST00000287844.2	-	2	119	c.10G>C	c.(10-12)Gac>Cac	p.D4H	ABCF2_ENST00000222388.2_Missense_Mutation_p.D4H	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	4					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.D4H(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGCCAGGTCGGAGGGCATG	0.502																																						uc003wjp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(10-12)GAC>CAC		ATP-binding cassette, sub-family F, member 2							79.0	76.0	77.0					7																	150923535		2203	4300	6503	SO:0001583	missense	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150923535C>G	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.10G>C	7.37:g.150923535C>G	ENSP00000287844:p.Asp4His					ABCF2_uc003wjo.1_Missense_Mutation_p.D4H	p.D4H	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	121	-			4					O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	c.10G>C	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821488	0.90873	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;D	0.92595	-3.02;-3.07;-1.93	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93851	0.7145	10	0.72032	D	0.01	-0.0595	15.0592	0.71939	0.0:1.0:0.0:0.0	.	4;4	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	H	4	ENSP00000222388:D4H;ENSP00000287844:D4H;ENSP00000419720:D4H	ENSP00000222388:D4H	D	-	1	0	ABCF2	150554468	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	6.643000	0.74334	2.227000	0.72691	0.563000	0.77884	GAC		PASS	0.502	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		6	108	6	108	---	---	---	---
PRKAG2	51422	broad.mit.edu	37	7	151273477	151273477	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:151273477C>A	ENST00000287878.4	-	7	1430	c.926G>T	c.(925-927)aGt>aTt	p.S309I	PRKAG2_ENST00000392801.2_Missense_Mutation_p.S265I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.S184I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.S185I|PRKAG2_ENST00000418337.2_Missense_Mutation_p.S68I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	309	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.S184I(1)|p.S309I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TTGTTTTTTACTCTCCCACAG	0.413																																						uc003wkk.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|kidney(1)	2						c.(925-927)AGT>ATT		AMP-activated protein kinase gamma2 subunit							66.0	65.0	66.0					7																	151273477		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151273477C>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.926G>T	7.37:g.151273477C>A	ENSP00000287878:p.Ser309Ile					PRKAG2_uc003wki.2_Missense_Mutation_p.S68I|PRKAG2_uc011kvl.1_Missense_Mutation_p.S184I|PRKAG2_uc003wkj.2_Missense_Mutation_p.S265I|PRKAG2_uc003wkl.2_Intron|PRKAG2_uc010lqe.1_RNA	p.S309I	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	7	1537	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	309			CBS 1.		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.926G>T	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933357	0.52866	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801;ENST00000476632	D;D;D;D;D;D	0.93811	-3.29;-3.09;-3.09;-3.09;-3.09;-3.29	5.42	4.54	0.55810	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (2);	0.042702	0.85682	D	0.000000	D	0.95497	0.8537	M	0.91818	3.245	0.51482	D	0.999921	D;P	0.53462	0.96;0.926	P;P	0.51806	0.68;0.551	D	0.95206	0.8321	10	0.87932	D	0	.	8.8966	0.35467	0.0:0.7725:0.1492:0.0783	.	184;309	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	I	68;309;185;184;265;68	ENSP00000387386:S68I;ENSP00000287878:S309I;ENSP00000419577:S185I;ENSP00000406544:S184I;ENSP00000376549:S265I;ENSP00000419493:S68I	ENSP00000287878:S309I	S	-	2	0	PRKAG2	150904410	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	3.788000	0.55446	1.288000	0.44600	0.650000	0.86243	AGT		PASS	0.413	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		27	23	27	23	---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155471376	155471376	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr7:155471376C>T	ENST00000401878.3	+	4	444	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RBM33_ENST00000287912.3_Silent_p.F82F|RBM33_ENST00000392759.3_Silent_p.F82F	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	82							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F82F(3)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAGAAAATTTCAGGTACTCAA	0.249																																						uc010lqk.1																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(244-246)TTC>TTT		RNA binding motif protein 33							37.0	37.0	37.0					7																	155471376		1789	4061	5850	SO:0001819	synonymous_variant	155435						nucleotide binding|RNA binding	g.chr7:155471376C>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.246C>T	7.37:g.155471376C>T						RBM33_uc003wme.2_Silent_p.F82F	p.F82F	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	4	614	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	82					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	c.246C>T	CCDS5941.2																																																																																				PASS	0.249	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		6	4	6	4	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	C	rs375815032	byFrequency	TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:17611496G>C	ENST00000262102.6	-	2	2045	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	MTUS1_ENST00000381862.3_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381869.3_Silent_p.A607A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433																																						uc003wxv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1819-1821)GCC>GCG		mitochondrial tumor suppressor 1 isoform 1							176.0	164.0	168.0					8																	17611496		1897	4117	6014	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611496G>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1821C>G	8.37:g.17611496G>C						MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.A607A|MTUS1_uc010lsz.2_Silent_p.A607A	p.A607A	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2295	-			607					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1821C>G	CCDS43717.1																																																																																				PASS	0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		208	165	208	165	---	---	---	---
NPBWR1	2831	broad.mit.edu	37	8	53852603	53852603	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:53852603G>A	ENST00000331251.3	+	1	1613	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	46					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.V46M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGTCTACGCGGTGATCTGCGC	0.687																																						uc011ldu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(136-138)GTG>ATG		G protein-coupled receptor 7							30.0	28.0	29.0					8																	53852603		2202	4298	6500	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852603G>A	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.136G>A	8.37:g.53852603G>A	ENSP00000330284:p.Val46Met						p.V46M	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	136	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	46			Helical; Name=1; (Potential).		Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.136G>A	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154971	0.57259	.	.	ENSG00000183729	ENST00000331251	T	0.41065	1.01	4.74	2.89	0.33648	.	0.366568	0.20060	N	0.100102	T	0.24198	0.0586	N	0.08118	0	0.31005	N	0.719936	P	0.40398	0.716	B	0.42386	0.386	T	0.15122	-1.0448	10	0.52906	T	0.07	.	7.0087	0.24851	0.1484:0.3088:0.5428:0.0	.	46	P48145	NPBW1_HUMAN	M	46	ENSP00000330284:V46M	ENSP00000330284:V46M	V	+	1	0	NPBWR1	54015156	0.010000	0.17322	0.980000	0.43619	0.866000	0.49608	0.075000	0.14686	0.543000	0.28864	0.655000	0.94253	GTG		PASS	0.687	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		10	31	10	31	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55539638	55539638	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:55539638G>C	ENST00000220676.1	+	4	3344	c.3196G>C	c.(3196-3198)Gag>Cag	p.E1066Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1066					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.E1066Q(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAAAGTGTAGAGGCTGCCAT	0.388																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(3196-3198)GAG>CAG		retinitis pigmentosa RP1 protein							64.0	66.0	65.0					8																	55539638		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539638G>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3196G>C	8.37:g.55539638G>C	ENSP00000220676:p.Glu1066Gln					RP1_uc011ldy.1_Intron	p.E1066Q	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3344	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1066						Missense_Mutation	SNP	ENST00000220676.1	37	c.3196G>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211495	0.79240	.	.	ENSG00000104237	ENST00000220676	T	0.37058	1.22	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000022	T	0.61073	0.2318	M	0.66939	2.045	0.36032	D	0.839461	D	0.89917	1.0	D	0.77004	0.989	T	0.69442	-0.5144	10	0.87932	D	0	.	19.3024	0.94149	0.0:0.0:1.0:0.0	.	1066	P56715	RP1_HUMAN	Q	1066	ENSP00000220676:E1066Q	ENSP00000220676:E1066Q	E	+	1	0	RP1	55702191	1.000000	0.71417	0.938000	0.37757	0.951000	0.60555	6.778000	0.75043	2.564000	0.86499	0.563000	0.77884	GAG		PASS	0.388	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		44	136	44	136	---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76476304	76476304	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:76476304G>T	ENST00000354370.1	+	11	1470	c.1200G>T	c.(1198-1200)caG>caT	p.Q400H	HNF4G_ENST00000396423.2_Missense_Mutation_p.Q437H			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	400					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q400H(1)|p.Q437H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTCACACCAGCATCTCTCCA	0.423																																						uc003yaq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1198-1200)CAG>CAT		hepatocyte nuclear factor 4, gamma							156.0	142.0	147.0					8																	76476304		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76476304G>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.1200G>T	8.37:g.76476304G>T	ENSP00000346339:p.Gln400His					HNF4G_uc003yar.2_Missense_Mutation_p.Q437H	p.Q400H	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		11	1470	+	Breast(64;0.0448)		400					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.1200G>T		.	.	.	.	.	.	.	.	.	.	G	11.72	1.722556	0.30503	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	T;T	0.71461	-0.57;-0.57	5.87	2.93	0.34026	.	1.370540	0.04530	N	0.386195	T	0.61751	0.2372	L	0.36672	1.1	0.37574	D	0.919549	B;B	0.16166	0.016;0.006	B;B	0.12156	0.007;0.003	T	0.51553	-0.8691	10	0.37606	T	0.19	.	6.5218	0.22279	0.273:0.1278:0.5992:0.0	.	437;400	F1D8Q4;Q14541	.;HNF4G_HUMAN	H	400;437	ENSP00000346339:Q400H;ENSP00000379701:Q437H	ENSP00000346339:Q400H	Q	+	3	2	HNF4G	76638859	0.481000	0.25941	0.893000	0.35052	0.865000	0.49528	0.718000	0.25866	0.809000	0.34255	0.655000	0.94253	CAG		PASS	0.423	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		74	167	74	167	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617281	77617281	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:77617281G>T	ENST00000521891.2	+	2	1406	c.958G>T	c.(958-960)Gcc>Tcc	p.A320S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A320S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A320S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A320S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A320S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCGTCTCCGCCATAATACA	0.413										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(958-960)GCC>TCC		zinc finger homeodomain 4							122.0	115.0	117.0					8																	77617281		1856	4102	5958	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617281G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.958G>T	8.37:g.77617281G>T	ENSP00000430497:p.Ala320Ser	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.A320S|ZFHX4_uc003yau.1_Missense_Mutation_p.A320S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A320S	p.A320S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1345	+			320					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.958G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816589	0.50633	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.77098	-1.07;-1.0;-1.03;-1.06	5.53	5.53	0.82687	.	0.000000	0.44097	U	0.000482	D	0.89196	0.6646	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.992;0.997;0.997;0.998	D	0.89664	0.3879	10	0.87932	D	0	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	320;320;320;320	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	320	ENSP00000430497:A320S;ENSP00000399605:A320S;ENSP00000050961:A320S;ENSP00000430848:A320S	ENSP00000050961:A320S	A	+	1	0	ZFHX4	77779836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.882000	0.98803	0.655000	0.94253	GCC		PASS	0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		72	143	72	143	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81733701	81733701	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:81733701G>A	ENST00000327835.3	-	2	360	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	43							metal ion binding (GO:0046872)	p.I43I(1)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CATGGTCAAGGATCCGGCTGG	0.428																																						uc003yby.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)ATC>ATT		zinc finger protein 704							351.0	326.0	334.0					8																	81733701		2203	4300	6503	SO:0001819	synonymous_variant	619279					intracellular	zinc ion binding	g.chr8:81733701G>A	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.129C>T	8.37:g.81733701G>A							p.I43I	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	361	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		43					B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	c.129C>T	CCDS34913.1																																																																																				PASS	0.428	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		239	495	239	495	---	---	---	---
TMEM67	91147	broad.mit.edu	37	8	94821290	94821290	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:94821290T>G	ENST00000453321.3	+	25	2620	c.2562T>G	c.(2560-2562)aaT>aaG	p.N854K	TMEM67_ENST00000409623.3_Missense_Mutation_p.N773K	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	854					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.N844K(1)|p.N854K(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATTAGAAAAATGGTCCTGCTA	0.303																																						uc011lgk.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2560-2562)AAT>AAG		meckelin isoform 1							80.0	81.0	80.0					8																	94821290		2203	4296	6499	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94821290T>G	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2562T>G	8.37:g.94821290T>G	ENSP00000389998:p.Asn854Lys					TMEM67_uc010maw.2_Missense_Mutation_p.N560K|TMEM67_uc003yga.3_Missense_Mutation_p.N773K|TMEM67_uc011lgl.1_Missense_Mutation_p.N253K	p.N854K	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		25	2633	+	Breast(36;4.14e-07)		854					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.2562T>G	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	T	3.593	-0.083098	0.07141	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.96396	-4.0;-4.0	5.71	4.56	0.56223	.	0.216759	0.46145	D	0.000301	D	0.92034	0.7476	L	0.28115	0.83	0.36752	D	0.882824	B;B;B	0.32573	0.216;0.376;0.325	B;B;B	0.33960	0.119;0.173;0.108	D	0.90850	0.4730	10	0.33940	T	0.23	-19.0261	11.416	0.49951	0.0:0.0703:0.0:0.9297	.	854;773;773	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	K	854;773	ENSP00000389998:N854K;ENSP00000386966:N773K	ENSP00000314488:N844K	N	+	3	2	TMEM67	94890466	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.663000	0.37429	1.009000	0.39289	0.482000	0.46254	AAT		PASS	0.303	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		63	145	63	145	---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109797102	109797102	+	Missense_Mutation	SNP	G	G	C	rs199822780		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:109797102G>C	ENST00000297459.3	-	2	404	c.226C>G	c.(226-228)Ctt>Gtt	p.L76V	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	76					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.L76V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCTGGCTGAAGAGTACTGTTT	0.498																																						uc003ymy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(226-228)CTT>GTT		transmembrane protein 74							129.0	131.0	130.0					8																	109797102		2203	4300	6503	SO:0001583	missense	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109797102G>C	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.226C>G	8.37:g.109797102G>C	ENSP00000297459:p.Leu76Val					TMEM74_uc003ymx.2_Intron	p.L76V	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	331	-			76						Missense_Mutation	SNP	ENST00000297459.3	37	c.226C>G	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.971687	0.00457	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.9	-5.31	0.02730	.	1.064490	0.07312	N	0.876002	T	0.11750	0.0286	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39461	-0.9613	9	0.02654	T	1	-0.0021	8.282	0.31906	0.0:0.3586:0.2835:0.3578	.	76	Q96NL1	TMM74_HUMAN	V	76	.	ENSP00000297459:L76V	L	-	1	0	TMEM74	109866278	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.552000	0.06020	-0.683000	0.05190	-1.085000	0.02201	CTT		PASS	0.498	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		71	161	71	161	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110461643	110461643	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:110461643T>G	ENST00000378402.5	+	40	6206	c.6102T>G	c.(6100-6102)tgT>tgG	p.C2034W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2034	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C2036W(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATTAGTTTGTGGCTCAGAAT	0.373										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(6100-6102)TGT>TGG		fibrocystin L precursor							64.0	63.0	63.0					8																	110461643		1829	4072	5901	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110461643T>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6102T>G	8.37:g.110461643T>G	ENSP00000367655:p.Cys2034Trp	HNSCC(38;0.096)					p.C2034W	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		40	6206	+			2034			Extracellular (Potential).|IPT/TIG 13.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.6102T>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.664628	0.29604	.	.	ENSG00000205038	ENST00000378402	T	0.77229	-1.08	5.28	1.42	0.22433	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.133526	0.51477	D	0.000081	D	0.85396	0.5687	M	0.82323	2.585	0.35881	D	0.828947	D	0.65815	0.995	D	0.69307	0.963	D	0.86254	0.1651	10	0.66056	D	0.02	.	8.0219	0.30415	0.0:0.3416:0.0:0.6584	.	2034	Q86WI1	PKHL1_HUMAN	W	2034	ENSP00000367655:C2034W	ENSP00000367655:C2034W	C	+	3	2	PKHD1L1	110530819	0.672000	0.27530	0.969000	0.41365	0.159000	0.22180	0.314000	0.19432	0.309000	0.22966	0.482000	0.46254	TGT		PASS	0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	21	8	21	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113988344	113988344	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:113988344C>A	ENST00000297405.5	-	7	1308	c.1064G>T	c.(1063-1065)gGt>gTt	p.G355V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G315V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G355V|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	355						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G355V(1)|p.G315V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCTAACTCACCAGTGGAGGT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1063-1065)GGT>GTT		CUB and Sushi multiple domains 3 isoform 1							129.0	128.0	129.0					8																	113988344		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988344C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1064G>T	8.37:g.113988344C>A	ENSP00000297405:p.Gly355Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.G315V|CSMD3_uc011lhx.1_Intron	p.G355V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			7	1223	-			355			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1064G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076433	0.55753	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	D;D;D	0.87887	-2.31;-2.31;-2.31	6.17	6.17	0.99709	.	0.224289	0.27618	N	0.018562	D	0.89924	0.6856	N	0.22421	0.69	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.88835	0.3308	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	355;315	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	V	315;355;355	ENSP00000345799:G315V;ENSP00000297405:G355V;ENSP00000343124:G355V	ENSP00000297405:G355V	G	-	2	0	CSMD3	114057520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.335000	0.65929	2.941000	0.99782	0.655000	0.94253	GGT		PASS	0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		37	123	37	123	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116616439	116616439	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:116616439C>A	ENST00000220888.5	-	3	1877	c.1718G>T	c.(1717-1719)aGc>aTc	p.S573I	TRPS1_ENST00000519674.1_Missense_Mutation_p.S573I|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.S577I|TRPS1_ENST00000395715.3_Missense_Mutation_p.S586I			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	573					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S573I(1)|p.S586I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTTTCTGGGCTGCAAAGTCC	0.453									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1717-1719)AGC>ATC		zinc finger transcription factor TRPS1							67.0	68.0	68.0					8																	116616439		1902	4122	6024	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616439C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1718G>T	8.37:g.116616439C>A	ENSP00000220888:p.Ser573Ile					TRPS1_uc011lhy.1_Missense_Mutation_p.S577I|TRPS1_uc003yny.2_Missense_Mutation_p.S586I|TRPS1_uc010mcy.2_Missense_Mutation_p.S573I	p.S573I	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2177	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		573					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1718G>T		.	.	.	.	.	.	.	.	.	.	C	14.51	2.557991	0.45590	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.87	5.87	0.94306	.	0.200427	0.56097	D	0.000032	T	0.27063	0.0663	N	0.14661	0.345	0.45822	D	0.998697	D;D;D	0.71674	0.994;0.989;0.998	P;P;P	0.62649	0.865;0.737;0.905	T	0.06679	-1.0813	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	577;573;586	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	I	586;573;577;573	ENSP00000379065:S586I;ENSP00000220888:S573I;ENSP00000428680:S577I;ENSP00000429174:S573I	ENSP00000220888:S573I	S	-	2	0	TRPS1	116685614	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.659000	0.54489	2.941000	0.99782	0.655000	0.94253	AGC		PASS	0.453	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		35	74	35	74	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125131175	125131175	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:125131175G>T	ENST00000522917.1	+	40	5586	c.5380G>T	c.(5380-5382)Gcc>Tcc	p.A1794S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A1794S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1794						integral component of membrane (GO:0016021)		p.A1794S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAGCCCCTGGCCAAGCCCAA	0.502																																						uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(5380-5382)GCC>TCC		fer-1-like 6							42.0	44.0	43.0					8																	125131175		1851	4102	5953	SO:0001583	missense	654463					integral to membrane		g.chr8:125131175G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5380G>T	8.37:g.125131175G>T	ENSP00000428280:p.Ala1794Ser					uc003yqy.1_Intron	p.A1794S	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		40	5586	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1794			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.5380G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396570	0.62177	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80738	-1.41;-1.41	5.69	4.81	0.61882	.	0.462769	0.21521	U	0.073214	T	0.70116	0.3187	N	0.14661	0.345	0.33481	D	0.587435	B	0.21309	0.054	B	0.24006	0.05	T	0.73335	-0.4015	10	0.56958	D	0.05	-10.9	16.7129	0.85389	0.0:0.1296:0.8704:0.0	.	1794	Q2WGJ9	FR1L6_HUMAN	S	1794	ENSP00000428280:A1794S;ENSP00000381982:A1794S	ENSP00000381982:A1794S	A	+	1	0	FER1L6	125200356	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.161000	0.64935	1.395000	0.46643	0.563000	0.77884	GCC		PASS	0.502	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		15	47	15	47	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143996584	143996584	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr8:143996584A>G	ENST00000323110.2	-	3	475	c.473T>C	c.(472-474)cTc>cCc	p.L158P		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	158					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L158P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CACCATCGGGAGGAACCTCTG	0.637									Familial Hyperaldosteronism type I																													uc003yxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CTC>CCC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						54.0	46.0	49.0					8																	143996584		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996584A>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.473T>C	8.37:g.143996584A>G	ENSP00000325822:p.Leu158Pro						p.L158P	NM_000498	NP_000489	P19099	C11B2_HUMAN			3	476	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		158					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.473T>C	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.18	2.459016	0.43634	.	.	ENSG00000179142	ENST00000323110	T	0.69306	-0.39	3.44	0.834	0.18880	.	1.042200	0.07600	N	0.923552	T	0.75228	0.3821	M	0.66297	2.02	0.21878	N	0.999498	D	0.57257	0.979	D	0.65573	0.936	T	0.57768	-0.7754	10	0.49607	T	0.09	.	4.1723	0.10336	0.6687:0.2059:0.1254:0.0	.	158	P19099	C11B2_HUMAN	P	158	ENSP00000325822:L158P	ENSP00000325822:L158P	L	-	2	0	CYP11B2	143993586	0.954000	0.32549	0.006000	0.13384	0.016000	0.09150	3.733000	0.55029	0.053000	0.16036	0.459000	0.35465	CTC		PASS	0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			12	38	12	38	---	---	---	---
IL33	90865	broad.mit.edu	37	9	6254481	6254481	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:6254481G>T	ENST00000381434.3	+	6	553	c.540G>T	c.(538-540)aaG>aaT	p.K180N	IL33_ENST00000417746.2_Missense_Mutation_p.K54N|IL33_ENST00000456383.2_Missense_Mutation_p.K138N	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	180					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)	p.K180N(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TTGATGGTAAGATGTTAATGG	0.323																																						uc003zjt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)AAG>AAT		interleukin 33 precursor							76.0	73.0	74.0					9																	6254481		2203	4300	6503	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6254481G>T	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.540G>T	9.37:g.6254481G>T	ENSP00000370842:p.Lys180Asn					IL33_uc011lmg.1_Missense_Mutation_p.K138N|IL33_uc011lmh.1_Missense_Mutation_p.K54N|IL33_uc003zju.1_Missense_Mutation_p.K180N	p.K180N	NM_033439	NP_254274	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	7	597	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	180					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.540G>T	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394900	0.62066	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.52057	0.68;0.68;0.68	4.15	-5.32	0.02722	.	1.013190	0.07908	N	0.973868	T	0.19725	0.0474	N	0.14661	0.345	0.09310	N	1	B;B;P	0.39311	0.095;0.408;0.667	B;B;B	0.32533	0.021;0.147;0.147	T	0.12785	-1.0534	10	0.72032	D	0.01	-0.7237	0.1548	0.00097	0.3072:0.2325:0.2247:0.2357	.	54;138;180	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	N	54;138;180	ENSP00000394039:K54N;ENSP00000414238:K138N;ENSP00000370842:K180N	ENSP00000370842:K180N	K	+	3	2	IL33	6244481	0.000000	0.05858	0.000000	0.03702	0.796000	0.44982	-0.817000	0.04472	-1.274000	0.02421	-0.150000	0.13652	AAG		PASS	0.323	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		11	15	11	15	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90502488	90502488	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:90502488C>G	ENST00000325643.5	+	4	3152	c.3086C>G	c.(3085-3087)gCt>gGt	p.A1029G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1029					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.A1029G(1)									TGGGCAAGGGCTGAAGATGCC	0.597																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3085-3087)GCT>GGT		chromosome 9 open reading frame 79							47.0	50.0	49.0					9																	90502488		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90502488C>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3086C>G	9.37:g.90502488C>G	ENSP00000322640:p.Ala1029Gly						p.A1029G	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3121	+			1029					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3086C>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	12.11	1.840467	0.32513	.	.	ENSG00000177992	ENST00000325643	T	0.04156	3.69	3.21	-0.989	0.10242	.	2.417310	0.01966	N	0.043689	T	0.11110	0.0271	L	0.36672	1.1	0.09310	N	1	D	0.63880	0.993	D	0.63488	0.915	T	0.17258	-1.0375	10	0.66056	D	0.02	.	3.5731	0.07925	0.0:0.4456:0.1938:0.3605	.	1029	Q6ZUB1	CI079_HUMAN	G	1029	ENSP00000322640:A1029G	ENSP00000322640:A1029G	A	+	2	0	C9orf79	89692308	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.577000	0.05847	-0.192000	0.10432	-0.262000	0.10625	GCT		PASS	0.597	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		37	73	37	73	---	---	---	---
SPIN1	10927	broad.mit.edu	37	9	91077445	91077445	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:91077445G>C	ENST00000375859.3	+	4	414	c.136G>C	c.(136-138)Gtt>Ctt	p.V46L	SPIN1_ENST00000541629.1_Missense_Mutation_p.V46L|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	46					chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)	p.V46L(1)		endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GAGCAAACCTGTTTCCCAGCC	0.488																																						uc010mqj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)GTT>CTT		spindlin							74.0	79.0	77.0					9																	91077445		2075	4212	6287	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91077445G>C	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.136G>C	9.37:g.91077445G>C	ENSP00000365019:p.Val46Leu					SPIN1_uc004apy.2_Missense_Mutation_p.V46L|SPIN1_uc004apz.2_Missense_Mutation_p.V46L|SPIN1_uc010mqk.2_Missense_Mutation_p.V46L	p.V46L	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN			4	636	+			46					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.136G>C	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297517	0.40694	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.40476	1.03;1.03	5.5	3.39	0.38822	.	0.562020	0.18223	N	0.147825	T	0.21962	0.0529	N	0.21448	0.665	0.34610	D	0.717475	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	10	0.20046	T	0.44	-15.0999	2.8315	0.05502	0.2389:0.2871:0.474:0.0	.	46	Q9Y657	SPIN1_HUMAN	L	46	ENSP00000365019:V46L;ENSP00000441864:V46L	ENSP00000365019:V46L	V	+	1	0	SPIN1	90267265	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.470000	0.45119	2.578000	0.87016	0.655000	0.94253	GTT		PASS	0.488	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		26	109	26	109	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113312235	113312235	+	Missense_Mutation	SNP	G	G	T	rs368796566		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:113312235G>T	ENST00000401783.2	-	2	1017	c.681C>A	c.(679-681)aaC>aaA	p.N227K	SVEP1_ENST00000302728.8_Missense_Mutation_p.N227K|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.N204K|SVEP1_ENST00000374461.1_Missense_Mutation_p.N204K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	227	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.N227K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTCTCGAATGTTCCCTTGCC	0.498																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(679-681)AAC>AAA		polydom							118.0	112.0	114.0					9																	113312235		1939	4150	6089	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312235G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.681C>A	9.37:g.113312235G>T	ENSP00000384917:p.Asn227Lys					SVEP1_uc010mua.1_Missense_Mutation_p.N227K|SVEP1_uc004beu.2_Missense_Mutation_p.N227K|SVEP1_uc004bev.2_5'UTR	p.N227K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			2	1018	-			227			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.681C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374825	0.61735	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.5	0.398	0.16319	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87767	0.6260	M	0.79926	2.475	0.32689	N	0.514437	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	D	0.88246	0.2913	10	0.87932	D	0	.	10.6431	0.45604	0.4925:0.0:0.5075:0.0	.	227;227;227	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	K	227;204;227;204	ENSP00000384917:N227K;ENSP00000363593:N204K;ENSP00000304118:N227K;ENSP00000363585:N204K	ENSP00000304118:N227K	N	-	3	2	SVEP1	112352056	1.000000	0.71417	0.983000	0.44433	0.930000	0.56654	1.086000	0.30853	-0.119000	0.11830	-1.084000	0.02203	AAC		PASS	0.498	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				35	97	35	97	---	---	---	---
SNX30	401548	broad.mit.edu	37	9	115598673	115598673	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:115598673C>G	ENST00000374232.3	+	5	962	c.798C>G	c.(796-798)atC>atG	p.I266M		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	266					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.I266M(1)		large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCCAGCGGATCATCAAAGAAG	0.468																																						uc004bgj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)ATC>ATG		sorting nexin family member 30							85.0	82.0	83.0					9																	115598673		1934	4150	6084	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115598673C>G	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.798C>G	9.37:g.115598673C>G	ENSP00000363349:p.Ile266Met					SNX30_uc004bgi.3_5'Flank	p.I266M	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			5	946	+			266						Missense_Mutation	SNP	ENST00000374232.3	37	c.798C>G	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434024	0.62955	.	.	ENSG00000148158	ENST00000374232	T	0.50548	0.74	5.9	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.66939	2.045	0.53688	D	0.999977	P	0.42123	0.771	B	0.39617	0.305	T	0.45220	-0.9276	10	0.51188	T	0.08	.	5.7278	0.18022	0.1535:0.6559:0.0:0.1905	.	266	Q5VWJ9	SNX30_HUMAN	M	266	ENSP00000363349:I266M	ENSP00000363349:I266M	I	+	3	3	SNX30	114638494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.731000	0.26058	2.800000	0.96347	0.655000	0.94253	ATC		PASS	0.468	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			50	63	50	63	---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115964868	115964868	+	Silent	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:115964868T>C	ENST00000238256.3	-	6	558	c.441A>G	c.(439-441)agA>agG	p.R147R		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	147	Important for function in growth cone organization. {ECO:0000250}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.R147R(1)|p.R172R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACCAGTTCTGTCTCTGGTCAT	0.403																																						uc004bgs.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(439-441)AGA>AGG		FK506 binding protein 15, 133kDa							47.0	44.0	45.0					9																	115964868		1873	4105	5978	SO:0001819	synonymous_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115964868T>C	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.441A>G	9.37:g.115964868T>C						FKBP15_uc010muu.1_Silent_p.R211R|FKBP15_uc011lxd.1_Silent_p.R79R|FKBP15_uc010mut.1_Silent_p.R15R|FKBP15_uc004bgt.2_Silent_p.R147R	p.R147R	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			6	559	-			147			Important for function in growth cone organization (By similarity).		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	c.441A>G	CCDS48007.1																																																																																				PASS	0.403	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		6	6	6	6	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119977009	119977009	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:119977009C>G	ENST00000313400.4	-	3	743	c.643G>C	c.(643-645)Gcg>Ccg	p.A215P	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.A215P|ASTN2_ENST00000361209.2_Missense_Mutation_p.A215P			O75129	ASTN2_HUMAN	astrotactin 2	215					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.A215P(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCAGCAGCGCGATGAGGCCA	0.612																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(643-645)GCG>CCG		astrotactin 2 isoform c							29.0	30.0	30.0					9																	119977009		2203	4298	6501	SO:0001583	missense	23245					integral to membrane		g.chr9:119977009C>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.643G>C	9.37:g.119977009C>G	ENSP00000314038:p.Ala215Pro					ASTN2_uc004bjr.1_Missense_Mutation_p.A215P|ASTN2_uc004bjt.1_Missense_Mutation_p.A215P	p.A215P	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	744	-			215			Helical; (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.643G>C		.	.	.	.	.	.	.	.	.	.	C	28.5	4.926578	0.92319	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.22743	2.08;2.07;1.94	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.34978	0.0916	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	T	0.04103	-1.0977	9	.	.	.	-17.8813	18.8043	0.92030	0.0:1.0:0.0:0.0	.	215;215;215	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	P	215	ENSP00000314038:A215P;ENSP00000363108:A215P;ENSP00000354504:A215P	.	A	-	1	0	ASTN2	119016830	1.000000	0.71417	0.461000	0.27105	0.991000	0.79684	7.783000	0.85696	2.541000	0.85698	0.655000	0.94253	GCG		PASS	0.612	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		13	43	13	43	---	---	---	---
LRRC8A	56262	broad.mit.edu	37	9	131671419	131671419	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:131671419G>C	ENST00000259324.5	+	3	2499	c.1976G>C	c.(1975-1977)gGc>gCc	p.G659A	LRRC8A_ENST00000372600.4_Missense_Mutation_p.G659A|LRRC8A_ENST00000372599.3_Missense_Mutation_p.G659A	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	659					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G659A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ATCCAGATCGGCAACCTCACC	0.577																																						uc004bwl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1975-1977)GGC>GCC		leucine rich repeat containing 8 family, member							168.0	139.0	149.0					9																	131671419		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671419G>C	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1976G>C	9.37:g.131671419G>C	ENSP00000259324:p.Gly659Ala					LRRC8A_uc010myp.2_Missense_Mutation_p.G659A|LRRC8A_uc010myq.2_Missense_Mutation_p.G659A	p.G659A	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	2230	+			659			LRR 12.		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1976G>C	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170097	0.38315	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.24723	1.84;1.84;1.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	L	0.28400	0.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.17077	-1.0381	10	0.51188	T	0.08	.	18.7705	0.91890	0.0:0.0:1.0:0.0	.	659	Q8IWT6	LRC8A_HUMAN	A	659	ENSP00000361682:G659A;ENSP00000361680:G659A;ENSP00000259324:G659A	ENSP00000259324:G659A	G	+	2	0	LRRC8A	130711240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.677000	0.91161	0.561000	0.74099	GGC		PASS	0.577	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		24	46	24	46	---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136536678	136536678	+	Missense_Mutation	SNP	C	C	T	rs150998618	byFrequency	TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:136536678C>T	ENST00000371872.4	-	18	2562	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N	SARDH_ENST00000371868.1_Missense_Mutation_p.D197N|SARDH_ENST00000439388.1_Missense_Mutation_p.D769N|SARDH_ENST00000422262.2_Missense_Mutation_p.D601N	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	769					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.D769N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTCAGGGAGTCGATGGCGCGG	0.672													C|||	4	0.000798722	0.003	0.0	5008	,	,		16096	0.0		0.0	False		,,,				2504	0.0					uc004cep.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2305-2307)GAC>AAC		sarcosine dehydrogenase precursor		C	ASN/ASP,ASN/ASP	19,4379	24.3+/-50.5	0,19,2180	36.0	30.0	32.0		2305,2305	5.0	1.0	9	dbSNP_134	32	0,8586		0,0,4293	yes	missense,missense	SARDH	NM_001134707.1,NM_007101.3	23,23	0,19,6473	TT,TC,CC		0.0,0.432,0.1463	probably-damaging,probably-damaging	769/919,769/919	136536678	19,12965	2199	4293	6492	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136536678C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2305G>A	9.37:g.136536678C>T	ENSP00000360938:p.Asp769Asn					SARDH_uc004ceo.2_Missense_Mutation_p.D769N|SARDH_uc011mdn.1_Missense_Mutation_p.D769N|SARDH_uc011mdo.1_Missense_Mutation_p.D601N|SARDH_uc004cen.2_Missense_Mutation_p.D197N	p.D769N	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	18	2439	-			769					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.2305G>A	CCDS6978.1	5	0.0022893772893772895	3	0.006097560975609756	0	0.0	0	0.0	2	0.002638522427440633	C	20.1	3.933180	0.73442	0.00432	0.0	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.97	4.97	0.65823	Glycine cleavage T-protein, N-terminal (1);	0.091797	0.64402	D	0.000001	T	0.75019	0.3793	N	0.26162	0.8	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.971;0.983	T	0.74405	-0.3676	10	0.16896	T	0.51	-45.4101	18.2398	0.89963	0.0:1.0:0.0:0.0	.	769;197	Q9UL12;Q5SYV2	SARDH_HUMAN;.	N	769;197;769;601	ENSP00000360938:D769N;ENSP00000360934:D197N;ENSP00000403084:D769N;ENSP00000415537:D601N	ENSP00000360934:D197N	D	-	1	0	SARDH	135526499	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	7.127000	0.77210	2.299000	0.77371	0.655000	0.94253	GAC		PASS	0.672	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			5	16	5	16	---	---	---	---
GPSM1	26086	broad.mit.edu	37	9	139229007	139229007	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr9:139229007G>A	ENST00000440944.1	+	2	392	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	GPSM1_ENST00000392945.3_Missense_Mutation_p.G58S	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	58	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)	p.G35S(1)		biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGTGCAGGTGGGCACCGAGGA	0.632																																						uc004chd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)GGC>AGC		G-protein signaling modulator 1 (AGS3-like, C.							71.0	66.0	68.0					9																	139229007		2203	4300	6503	SO:0001583	missense	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139229007G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.172G>A	9.37:g.139229007G>A	ENSP00000392828:p.Gly58Ser					GPSM1_uc004chc.2_Missense_Mutation_p.G58S	p.G58S	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	2	392	+		Myeloproliferative disorder(178;0.0821)	58			TPR 1.|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	c.172G>A	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	g	35	5.456405	0.96223	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.74842	-0.88;-0.88;0.04	4.53	4.53	0.55603	Tetratricopeptide-like helical (1);	0.000000	0.85682	U	0.000000	D	0.85177	0.5637	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.87170	0.2220	10	0.66056	D	0.02	-10.3982	16.264	0.82565	0.0:0.0:1.0:0.0	.	58;58	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	S	58;58;35	ENSP00000376674:G58S;ENSP00000392828:G58S;ENSP00000346797:G35S	ENSP00000346797:G35S	G	+	1	0	GPSM1	138348828	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.489000	0.97949	2.049000	0.60858	0.556000	0.70494	GGC		PASS	0.632	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		15	28	15	28	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7205846	7205846	+	Silent	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:7205846A>T	ENST00000361972.4	-	21	2661	c.2571T>A	c.(2569-2571)ctT>ctA	p.L857L	SFMBT2_ENST00000397167.1_Silent_p.L857L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	857	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.L857L(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAAGGGTCAGAAGCAGGAGTG	0.567																																						uc009xio.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2569-2571)CTT>CTA		Scm-like with four mbt domains 2							77.0	66.0	70.0					10																	7205846		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7205846A>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2571T>A	10.37:g.7205846A>T						SFMBT2_uc001ijn.1_Silent_p.L857L|SFMBT2_uc010qay.1_Silent_p.L692L	p.L857L	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			21	2662	-			857			SAM.		A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.2571T>A	CCDS31138.1																																																																																				PASS	0.567	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		24	54	24	54	---	---	---	---
C10orf111	221060	broad.mit.edu	37	10	15138369	15138369	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:15138369T>A	ENST00000378207.3	-	2	728	c.455A>T	c.(454-456)tAt>tTt	p.Y152F	RPP38_ENST00000378202.5_5'Flank|RPP38_ENST00000378197.4_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	152						integral component of membrane (GO:0016021)		p.Y152F(1)		lung(5)|upper_aerodigestive_tract(1)	6						TACCAGAAAATAGGATACAAA	0.423																																						uc001inw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)TAT>TTT		hypothetical protein LOC221060							33.0	36.0	35.0					10																	15138369		2203	4300	6503	SO:0001583	missense	221060					integral to membrane		g.chr10:15138369T>A	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.455A>T	10.37:g.15138369T>A	ENSP00000367449:p.Tyr152Phe					RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank	p.Y152F	NM_153244	NP_694976	Q8N326	CJ111_HUMAN			2	729	-			152					B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	c.455A>T	CCDS7107.1	.	.	.	.	.	.	.	.	.	.	T	4.371	0.068412	0.08436	.	.	ENSG00000176236	ENST00000378207	T	0.54071	0.59	2.69	-3.33	0.04958	.	.	.	.	.	T	0.24851	0.0603	N	0.08118	0	0.09310	N	1	B	0.31968	0.349	B	0.31946	0.138	T	0.17440	-1.0369	9	0.87932	D	0	.	1.2278	0.01937	0.1816:0.1321:0.3993:0.287	.	152	Q8N326	CJ111_HUMAN	F	152	ENSP00000367449:Y152F	ENSP00000367449:Y152F	Y	-	2	0	C10orf111	15178375	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.577000	0.05847	-0.750000	0.04740	-0.842000	0.03052	TAT		PASS	0.423	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		10	27	10	27	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15573126	15573126	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:15573126C>G	ENST00000378076.3	-	28	3258	c.2905G>C	c.(2905-2907)Gca>Cca	p.A969P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	969					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.A969P(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCAGGGATGCAAGAGCATAG	0.318																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(2905-2907)GCA>CCA		integrin, alpha 8 precursor							98.0	97.0	97.0					10																	15573126		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15573126C>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2905G>C	10.37:g.15573126C>G	ENSP00000367316:p.Ala969Pro					ITGA8_uc010qcb.1_Missense_Mutation_p.A954P	p.A969P	NM_003638	NP_003629	P53708	ITA8_HUMAN			28	2905	-			969			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2905G>C	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404271	0.42613	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.50001	0.76	5.64	4.73	0.59995	.	0.403092	0.30285	N	0.009972	T	0.43211	0.1237	L	0.46157	1.445	0.27611	N	0.948662	P;P	0.42692	0.787;0.682	P;B	0.47346	0.544;0.342	T	0.41538	-0.9503	10	0.39692	T	0.17	.	4.7908	0.13248	0.2305:0.6083:0.0:0.1611	.	954;969	F5H818;P53708	.;ITA8_HUMAN	P	969;954	ENSP00000367316:A969P	ENSP00000367316:A969P	A	-	1	0	ITGA8	15613132	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.317000	0.33631	2.651000	0.90000	0.643000	0.83706	GCA		PASS	0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		56	132	56	132	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21962303	21962303	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:21962303G>T	ENST00000307729.7	+	11	1254	c.1076G>T	c.(1075-1077)aGt>aTt	p.S359I	MLLT10_ENST00000377072.3_Missense_Mutation_p.S359I|MLLT10_ENST00000377059.3_Missense_Mutation_p.S359I|MLLT10_ENST00000446906.2_Missense_Mutation_p.S359I			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	359	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S359I(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACTCCAGGCAGTGTAAAGTCA	0.428			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(1075-1077)AGT>ATT		myeloid/lymphoid or mixed-lineage leukemia							94.0	99.0	97.0					10																	21962303		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962303G>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1076G>T	10.37:g.21962303G>T	ENSP00000307411:p.Ser359Ile					MLLT10_uc001iqt.2_Missense_Mutation_p.S359I|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S359I|MLLT10_uc001ira.2_Intron|MLLT10_uc001irb.2_5'Flank|MLLT10_uc001iqz.2_Missense_Mutation_p.S114I	p.S359I	NM_004641	NP_004632	P55197	AF10_HUMAN			11	1424	+			359			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1076G>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573600	0.86542	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	6.06	6.06	0.98353	.	0.288784	0.42964	D	0.000621	T	0.41534	0.1163	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;0.966;0.998;0.989	D;P;D;P	0.85130	0.997;0.641;0.991;0.641	T	0.02333	-1.1175	10	0.56958	D	0.05	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	205;359;359;359	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	I	359;359;359;205;359	ENSP00000366272:S359I;ENSP00000401406:S359I;ENSP00000307411:S359I;ENSP00000366258:S359I	ENSP00000307411:S359I	S	+	2	0	MLLT10	22002309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.562000	0.82300	2.882000	0.98803	0.655000	0.94253	AGT		PASS	0.428	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			80	214	80	214	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26534925	26534925	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:26534925G>C	ENST00000376261.3	+	8	1419	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	GAD2_ENST00000259271.3_Missense_Mutation_p.E306Q	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	306					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.E306Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TAAATGTGATGAGAGGTGAGC	0.428																																						uc001isp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(916-918)GAG>CAG		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						116.0	108.0	111.0					10																	26534925		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26534925G>C	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.916G>C	10.37:g.26534925G>C	ENSP00000365437:p.Glu306Gln					GAD2_uc001isq.2_Missense_Mutation_p.E306Q	p.E306Q	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			8	1419	+			306					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.916G>C	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915043	0.52546	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.41065	1.01;1.01	5.13	5.13	0.70059	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047201	0.85682	D	0.000000	T	0.48429	0.1499	M	0.76574	2.34	0.80722	D	1	B	0.15930	0.015	B	0.22601	0.04	T	0.49273	-0.8957	10	0.52906	T	0.07	-24.6234	17.34	0.87293	0.0:0.0:1.0:0.0	.	306	Q05329	DCE2_HUMAN	Q	306	ENSP00000365437:E306Q;ENSP00000259271:E306Q	ENSP00000259271:E306Q	E	+	1	0	GAD2	26574931	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.557000	0.67313	2.362000	0.80069	0.650000	0.86243	GAG		PASS	0.428	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		13	38	13	38	---	---	---	---
PDSS1	23590	broad.mit.edu	37	10	26998618	26998618	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:26998618G>T	ENST00000376215.5	+	5	441	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	PDSS1_ENST00000376203.5_Missense_Mutation_p.D130Y	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	130					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.D130Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GTACTACTTTGATGGGAAAGG	0.403																																						uc001isv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)GAT>TAT		prenyl diphosphate synthase, subunit 1							147.0	146.0	146.0					10																	26998618		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26998618G>T	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.388G>T	10.37:g.26998618G>T	ENSP00000365388:p.Asp130Tyr					PDSS1_uc001isw.2_Missense_Mutation_p.D130Y	p.D130Y	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN			5	434	+			130					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.388G>T	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685236	0.88639	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	T;T	0.63255	-0.03;-0.03	5.26	5.26	0.73747	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72625	0.978;0.971	D	0.83996	0.0340	10	0.87932	D	0	-2.7257	18.8227	0.92103	0.0:0.0:1.0:0.0	.	130;130	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	Y	130;130;91	ENSP00000365388:D130Y;ENSP00000365376:D130Y	ENSP00000365376:D130Y	D	+	1	0	PDSS1	27038624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.280000	0.95786	2.619000	0.88677	0.650000	0.86243	GAT		PASS	0.403	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			98	205	98	205	---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35324157	35324157	+	Silent	SNP	C	C	T	rs188603711		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:35324157C>T	ENST00000374748.1	-	11	1258	c.945G>A	c.(943-945)ctG>ctA	p.L315L	CUL2_ENST00000602371.1_Silent_p.L258L|CUL2_ENST00000374746.1_Silent_p.L315L|CUL2_ENST00000374742.1_Silent_p.L315L|CUL2_ENST00000537177.1_Silent_p.L334L|CUL2_ENST00000374751.3_Silent_p.L315L|CUL2_ENST00000374749.3_Silent_p.L315L			Q13617	CUL2_HUMAN	cullin 2	315					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.L315L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGTGGTTTTGCAGCTCCTGAA	0.458																																						uc001ixv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(943-945)CTG>CTA		cullin 2							163.0	133.0	143.0					10																	35324157		2203	4300	6503	SO:0001819	synonymous_variant	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35324157C>T	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.945G>A	10.37:g.35324157C>T						CUL2_uc009xma.2_Silent_p.L184L|CUL2_uc010qer.1_Silent_p.L334L|CUL2_uc001ixw.2_Silent_p.L315L|CUL2_uc010qes.1_Silent_p.L252L	p.L315L	NM_003591	NP_003582	Q13617	CUL2_HUMAN			10	1155	-			315					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Silent	SNP	ENST00000374748.1	37	c.945G>A	CCDS7179.1																																																																																				PASS	0.458	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		15	93	15	93	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50944484	50944484	+	Silent	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:50944484C>A	ENST00000374103.4	-	21	2758	c.2673G>T	c.(2671-2673)acG>acT	p.T891T	OGDHL_ENST00000419399.1_Silent_p.T834T|OGDHL_ENST00000432695.1_Silent_p.T682T|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	891					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.T891T(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACACCTTTCCCGTGCAGAAGA	0.627																																						uc001jie.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(2671-2673)ACG>ACT		oxoglutarate dehydrogenase-like isoform a							103.0	99.0	100.0					10																	50944484		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50944484C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2673G>T	10.37:g.50944484C>A						OGDHL_uc009xog.2_Silent_p.T918T|OGDHL_uc010qgt.1_Silent_p.T834T|OGDHL_uc010qgu.1_Silent_p.T682T	p.T891T	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			21	2815	-			891					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.2673G>T	CCDS7234.1																																																																																				PASS	0.627	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		55	88	55	88	---	---	---	---
SLC16A12	387700	broad.mit.edu	37	10	91198522	91198522	+	Silent	SNP	G	G	C	rs142419410		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:91198522G>C	ENST00000341233.4	-	6	1167	c.777C>G	c.(775-777)tcC>tcG	p.S259S	SLC16A12_ENST00000371790.4_Silent_p.S289S	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.S259S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TAAACAGAACGGAGACGGCTA	0.448																																						uc001kgm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(775-777)TCC>TCG		solute carrier family 16 (monocarboxylic acid							107.0	96.0	100.0					10																	91198522		2203	4300	6503	SO:0001819	synonymous_variant	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91198522G>C		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.777C>G	10.37:g.91198522G>C						SLC16A12_uc001kgl.2_5'Flank	p.S259S	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN			6	1168	-			259			Helical; (Potential).		Q5M9M9|Q5T7J2|Q6ZV76	Silent	SNP	ENST00000341233.4	37	c.777C>G																																																																																					PASS	0.448	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		27	33	27	33	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98416601	98416601	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:98416601G>A	ENST00000339364.5	-	3	640	c.521C>T	c.(520-522)tCa>tTa	p.S174L	PIK3AP1_ENST00000371110.2_5'UTR|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	174					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.S174L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTTCCCAGGTGAAGTCACCGT	0.552																																						uc001kmq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(520-522)TCA>TTA		phosphoinositide-3-kinase adaptor protein 1							130.0	104.0	113.0					10																	98416601		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98416601G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.521C>T	10.37:g.98416601G>A	ENSP00000339826:p.Ser174Leu					PIK3AP1_uc001kmp.2_5'UTR	p.S174L	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	3	649	-		Colorectal(252;0.0442)	174					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.521C>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	9.793	1.178379	0.21787	.	.	ENSG00000155629	ENST00000339364	T	0.10960	2.82	5.11	3.18	0.36537	.	1.059170	0.07394	N	0.889631	T	0.11067	0.0270	L	0.44542	1.39	0.09310	N	0.999994	B	0.23249	0.082	B	0.24394	0.053	T	0.28073	-1.0055	10	0.41790	T	0.15	1.5394	6.4652	0.21977	0.0931:0.0:0.729:0.1779	.	174	Q6ZUJ8	BCAP_HUMAN	L	174	ENSP00000339826:S174L	ENSP00000339826:S174L	S	-	2	0	PIK3AP1	98406591	0.038000	0.19896	0.002000	0.10522	0.169000	0.22640	2.438000	0.44837	1.386000	0.46466	0.561000	0.74099	TCA		PASS	0.552	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		59	69	59	69	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101668899	101668899	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:101668899C>T	ENST00000324109.4	-	5	2356	c.2265G>A	c.(2263-2265)atG>atA	p.M755I	DNMBP_ENST00000543621.1_Start_Codon_SNP_p.M1I|DNMBP_ENST00000342239.3_Missense_Mutation_p.M755I	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	755					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M755I(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGAGGAGCGTCATTTCTAGAA	0.512																																						uc001kqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2263-2265)ATG>ATA		dynamin binding protein							48.0	44.0	46.0					10																	101668899		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101668899C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2265G>A	10.37:g.101668899C>T	ENSP00000315659:p.Met755Ile					DNMBP_uc001kqg.2_Missense_Mutation_p.M43I|DNMBP_uc001kqh.2_Missense_Mutation_p.M387I	p.M755I	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	5	2357	-		Colorectal(252;0.234)	755			Potential.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.2265G>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673043	0.67928	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.17528	2.71;2.65;2.27;3.29	5.82	4.92	0.64577	.	0.000000	0.64402	D	0.000012	T	0.23846	0.0577	M	0.74258	2.255	0.80722	D	1	B;B;B	0.23249	0.007;0.082;0.007	B;B;B	0.22386	0.004;0.039;0.004	T	0.02385	-1.1167	10	0.41790	T	0.15	-16.0427	14.6968	0.69129	0.0:0.9307:0.0:0.0693	.	755;1;755	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	I	755;755;1;1;43;43	ENSP00000344914:M755I;ENSP00000315659:M755I;ENSP00000443657:M1I;ENSP00000409476:M43I	ENSP00000315659:M755I	M	-	3	0	DNMBP	101658889	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.655000	0.67981	1.473000	0.48159	0.561000	0.74099	ATG		PASS	0.512	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		20	35	20	35	---	---	---	---
TRIM8	81603	broad.mit.edu	37	10	104404932	104404932	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:104404932G>C	ENST00000302424.7	+	1	680	c.558G>C	c.(556-558)agG>agC	p.R186S	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	186					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.R186S(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGATCCGAAGGAATGAAATCC	0.642																																						uc001kvz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(556-558)AGG>AGC		tripartite motif-containing 8							14.0	15.0	15.0					10																	104404932		1602	3178	4780	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104404932G>C	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.558G>C	10.37:g.104404932G>C	ENSP00000302120:p.Arg186Ser						p.R186S	NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	681	+		Colorectal(252;0.122)	186			Potential.		A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.558G>C	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875156	0.51695	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.62105	0.05	4.99	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	L	0.59436	1.845	0.51482	D	0.999924	D	0.59357	0.985	P	0.61201	0.885	T	0.66300	-0.5958	10	0.06236	T	0.91	.	6.3116	0.21169	0.1723:0.2002:0.6275:0.0	.	186	Q9BZR9	TRIM8_HUMAN	S	186	ENSP00000302120:R186S	ENSP00000302120:R186S	R	+	3	2	TRIM8	104394922	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.385000	0.44371	1.100000	0.41517	0.561000	0.74099	AGG		PASS	0.642	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		12	12	12	12	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105484070	105484070	+	Missense_Mutation	SNP	C	C	G	rs537392376		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:105484070C>G	ENST00000369774.4	-	5	632	c.356G>C	c.(355-357)cGg>cCg	p.R119P	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R119P			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	119	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.R119P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTCGAAGAACCGGAAGACTTC	0.557																																						uc001kxj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)CGG>CCG		SH3 multiple domains 1							56.0	48.0	51.0					10																	105484070		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105484070C>G	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.356G>C	10.37:g.105484070C>G	ENSP00000358789:p.Arg119Pro					SH3PXD2A_uc010qqu.1_Missense_Mutation_p.R49P	p.R119P	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	5	496	-		Colorectal(252;0.0815)|Breast(234;0.131)	119			PX.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.356G>C		.	.	.	.	.	.	.	.	.	.	C	14.84	2.655797	0.47467	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000536035	T;T	0.40225	1.04;1.04	5.03	2.17	0.27698	Phox homologous domain (5);	0.133647	0.48767	D	0.000161	T	0.44746	0.1308	L	0.52573	1.65	0.80722	D	1	P;P	0.38565	0.637;0.584	P;P	0.51170	0.661;0.53	T	0.23726	-1.0180	10	0.36615	T	0.2	-14.9941	6.2159	0.20656	0.0:0.545:0.0:0.455	.	119;119	Q5TCZ1;Q5TCZ1-3	SPD2A_HUMAN;.	P	119;119;49	ENSP00000358789:R119P;ENSP00000348215:R119P	ENSP00000348215:R119P	R	-	2	0	SH3PXD2A	105474060	0.233000	0.23772	0.985000	0.45067	0.674000	0.39518	0.011000	0.13264	0.542000	0.28846	0.462000	0.41574	CGG		PASS	0.557	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		9	8	9	8	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134015564	134015564	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr10:134015564C>A	ENST00000338492.4	+	11	1389	c.1225C>A	c.(1225-1227)Ctg>Atg	p.L409M	DPYSL4_ENST00000368629.1_Missense_Mutation_p.L309M|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L309M	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	409					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L409M(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TGACGCTGACCTGGTCATATG	0.542																																						uc009ybb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1225-1227)CTG>ATG		dihydropyrimidinase-like 4							101.0	100.0	101.0					10																	134015564		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134015564C>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1225C>A	10.37:g.134015564C>A	ENSP00000339850:p.Leu409Met						p.L409M	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	11	1379	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	409					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1225C>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399313	0.62177	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.94330	-3.4;-3.4;-3.4	4.58	3.67	0.42095	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.076528	0.51477	D	0.000081	D	0.96300	0.8793	M	0.90705	3.14	0.27318	N	0.957132	P	0.49358	0.923	P	0.60682	0.878	D	0.91457	0.5186	10	0.72032	D	0.01	-26.3019	9.713	0.40256	0.0:0.779:0.0:0.221	.	409	O14531	DPYL4_HUMAN	M	409;309;309	ENSP00000339850:L409M;ENSP00000357618:L309M;ENSP00000357616:L309M	ENSP00000339850:L409M	L	+	1	2	DPYSL4	133865554	0.775000	0.28604	1.000000	0.80357	0.996000	0.88848	0.208000	0.17415	1.151000	0.42436	0.650000	0.86243	CTG		PASS	0.542	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			19	135	19	135	---	---	---	---
TSSC4	10078	broad.mit.edu	37	11	2424286	2424286	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:2424286T>A	ENST00000333256.6	+	3	866	c.423T>A	c.(421-423)caT>caA	p.H141Q	AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380996.5_Missense_Mutation_p.H77Q|TSSC4_ENST00000451491.2_Missense_Mutation_p.H141Q|TSSC4_ENST00000380992.1_Missense_Mutation_p.H77Q			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	141								p.H141Q(1)		endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGGGCCCATCGGAGCCCTG	0.667																																						uc001lwj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)CAT>CAA		tumor suppressing subtransferable candidate 4							13.0	15.0	14.0					11																	2424286		2184	4288	6472	SO:0001583	missense	10078							g.chr11:2424286T>A	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.423T>A	11.37:g.2424286T>A	ENSP00000331087:p.His141Gln					TSSC4_uc001lwi.2_Missense_Mutation_p.H77Q|TSSC4_uc001lwk.2_Missense_Mutation_p.H141Q|TSSC4_uc001lwl.2_Missense_Mutation_p.H141Q	p.H141Q	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)	4	784	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	141					C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.423T>A	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.386075	0.01194	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000380992;ENST00000437110;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T;T	0.43294	2.3;2.56;0.95;1.56;1.97;1.58;2.56	2.84	-2.19	0.07015	.	2.005100	0.02772	U	0.119821	T	0.24431	0.0592	N	0.19112	0.55	0.09310	N	1	B;B	0.33135	0.399;0.399	B;B	0.23574	0.047;0.047	T	0.11275	-1.0594	10	0.13108	T	0.6	1.029	9.823	0.40894	0.0:0.5692:0.0:0.4308	.	141;77	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	Q	77;141;77;141;77;141;141	ENSP00000370384:H77Q;ENSP00000331087:H141Q;ENSP00000370380:H77Q;ENSP00000396925:H141Q;ENSP00000416937:H77Q;ENSP00000435013:H141Q;ENSP00000411224:H141Q	ENSP00000331087:H141Q	H	+	3	2	TSSC4	2380862	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.939000	0.01545	-0.518000	0.06452	0.379000	0.24179	CAT		PASS	0.667	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		5	9	5	9	---	---	---	---
OR51A7	119687	broad.mit.edu	37	11	4928829	4928829	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:4928829C>A	ENST00000359350.4	+	1	230	c.230C>A	c.(229-231)tCc>tAc	p.S77Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S77Y(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTCTCCTCCCTTCCTACC	0.453																																						uc010qyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(229-231)TCC>TAC		olfactory receptor, family 51, subfamily A,							158.0	137.0	144.0					11																	4928829		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928829C>A	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.230C>A	11.37:g.4928829C>A	ENSP00000352305:p.Ser77Tyr						p.S77Y	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	230	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	77			Extracellular (Potential).		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.230C>A	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259039	0.39896	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.00449	7.37	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000265	T	0.00906	0.0030	M	0.90650	3.135	0.09310	N	1	P	0.44195	0.828	P	0.44811	0.461	T	0.27020	-1.0086	10	0.87932	D	0	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	77	Q8NH64	O51A7_HUMAN	Y	77;77;66	ENSP00000352305:S77Y	ENSP00000352305:S77Y	S	+	2	0	OR51A7	4885405	0.000000	0.05858	0.454000	0.27019	0.730000	0.41778	0.196000	0.17176	2.596000	0.87737	0.655000	0.94253	TCC		PASS	0.453	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		71	157	71	157	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5344663	5344663	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:5344663T>A	ENST00000328813.2	-	1	919	c.865A>T	c.(865-867)Atc>Ttc	p.I289F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I289F(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGTAGATGACAGGGTTC	0.378																																						uc001mao.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(865-867)ATC>TTC		olfactory receptor, family 51, subfamily B,							107.0	100.0	102.0					11																	5344663		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344663T>A	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.865A>T	11.37:g.5344663T>A	ENSP00000327540:p.Ile289Phe					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.I289F	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	920	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	289			Helical; Name=7; (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.865A>T	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179176	0.57800	.	.	ENSG00000184881	ENST00000328813	T	0.57107	0.42	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39083	U	0.001478	T	0.76807	0.4039	H	0.96662	3.86	0.33762	D	0.621984	D	0.60575	0.988	P	0.62649	0.905	D	0.85667	0.1292	10	0.87932	D	0	.	7.5807	0.27963	0.0:0.0964:0.0:0.9036	.	289	Q9Y5P1	O51B2_HUMAN	F	289	ENSP00000327540:I289F	ENSP00000327540:I289F	I	-	1	0	OR51B2	5301239	0.983000	0.35010	0.341000	0.25589	0.963000	0.63663	2.089000	0.41672	1.870000	0.54199	0.519000	0.50382	ATC		PASS	0.378	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		10	163	10	163	---	---	---	---
PRKCDBP	112464	broad.mit.edu	37	11	6340741	6340742	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:6340741_6340742GC>CA	ENST00000303927.3	-	2	607_608	c.437_438GC>TG	c.(436-438)gGC>gTG	p.G146V	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.G178V	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	146					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)		p.G146V(2)|p.G146G(1)		large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTCCGCCGGGCCCAAGGGCTC	0.678																																						uc001mcu.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(436-438)GGC>GGG|c.(436-438)GGC>GTC		protein kinase C, delta binding protein																																				SO:0001583	missense	112464							g.chr11:6340741G>C|g.chr11:6340742C>A	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.437_438delinsCA	11.37:g.6340741_6340742delinsCA	ENSP00000307292:p.Gly146Val						p.G146G|p.G146V	NM_145040	NP_659477	Q969G5	PRDBP_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	472|471	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	146						Silent|Missense_Mutation	SNP	ENST00000303927.3	37	c.438C>G|c.437G>T	CCDS7762.1																																																																																				PASS	0.678	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		7	16|15	7	15	---	---	---	---
USP47	55031	broad.mit.edu	37	11	11962033	11962033	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:11962033T>G	ENST00000399455.2	+	20	2431	c.2311T>G	c.(2311-2313)Ttg>Gtg	p.L771V	USP47_ENST00000339865.5_Missense_Mutation_p.L683V|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.L751V	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	771					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.L683V(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CTACAATGATTTGCGTCTTCT	0.338																																						uc001mjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2311-2313)TTG>GTG		ubiquitin specific protease 47							100.0	96.0	98.0					11																	11962033		1852	4084	5936	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11962033T>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2311T>G	11.37:g.11962033T>G	ENSP00000382382:p.Leu771Val					USP47_uc001mjr.2_Missense_Mutation_p.L683V|USP47_uc001mjs.2_Missense_Mutation_p.L751V|USP47_uc001mjt.1_Missense_Mutation_p.L57V	p.L771V	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	20	3074	+			771					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.2311T>G		.	.	.	.	.	.	.	.	.	.	T	15.19	2.761397	0.49468	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.04234	3.68;3.68;3.67	5.64	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.05593	0.0147	L	0.29908	0.895	0.80722	D	1	P;P;P	0.44946	0.846;0.716;0.838	B;B;P	0.46796	0.293;0.227;0.527	T	0.49744	-0.8907	10	0.36615	T	0.2	.	8.6092	0.33793	0.0:0.197:0.0:0.803	.	771;751;683	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	V	683;751;771	ENSP00000339957:L683V;ENSP00000433146:L751V;ENSP00000382382:L771V	ENSP00000339957:L683V	L	+	1	2	USP47	11918609	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.819000	0.39022	0.238000	0.21222	0.533000	0.62120	TTG		PASS	0.338	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		60	121	60	121	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20057511	20057511	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:20057511C>T	ENST00000396087.3	+	13	2943	c.2844C>T	c.(2842-2844)gaC>gaT	p.D948D	NAV2_ENST00000360655.4_Silent_p.D861D|NAV2_ENST00000527559.2_Silent_p.D877D|NAV2_ENST00000311043.8_Silent_p.D11D|NAV2_ENST00000540292.1_Silent_p.D879D|NAV2_ENST00000349880.4_Silent_p.D925D|NAV2_ENST00000533917.1_Silent_p.D11D|NAV2_ENST00000396085.1_Silent_p.D925D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	948					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.D948D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCAGCTGGGACGACAGCAGCT	0.537																																						uc010rdm.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(2842-2844)GAC>GAT		neuron navigator 2 isoform 2							186.0	118.0	141.0					11																	20057511		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20057511C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2844C>T	11.37:g.20057511C>T						NAV2_uc001mpp.2_Silent_p.D861D|NAV2_uc001mpr.3_Silent_p.D925D|NAV2_uc001mpt.2_Silent_p.D11D|NAV2_uc009yhx.2_Silent_p.D11D|NAV2_uc009yhy.1_Translation_Start_Site	p.D948D	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			13	3205	+			948					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.2844C>T	CCDS58126.1																																																																																				PASS	0.537	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		10	38	10	38	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003189	50003189	+	Silent	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:50003189C>G	ENST00000335238.4	-	1	882	c.849G>C	c.(847-849)gtG>gtC	p.V283V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	283			V -> L (in dbSNP:rs4598671). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V283V(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGTGTAGACCACGGGATTTA	0.398																																						uc010ria.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(847-849)GTG>GTC		olfactory receptor, family 4, subfamily C,							68.0	62.0	64.0					11																	50003189		2201	4296	6497	SO:0001819	synonymous_variant	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003189C>G	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.849G>C	11.37:g.50003189C>G							p.V283V	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	849	-			283			Helical; Name=7; (Potential).		B2RNF0|Q6IF49	Silent	SNP	ENST00000335238.4	37	c.849G>C	CCDS31496.1																																																																																				PASS	0.398	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		53	77	53	77	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135622	55135622	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:55135622A>T	ENST00000314706.3	+	1	263	c.263A>T	c.(262-264)tAc>tTc	p.Y88F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y88F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCCCCCATGTACTTTTTTCTG	0.413																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(262-264)TAC>TTC		olfactory receptor, family 4, subfamily A,							108.0	105.0	106.0					11																	55135622		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135622A>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.263A>T	11.37:g.55135622A>T	ENSP00000325065:p.Tyr88Phe						p.Y88F	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	263	+			88			Helical; Name=2; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.263A>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	19.87	3.907871	0.72868	.	.	ENSG00000181958	ENST00000314706	T	0.14391	2.51	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000359	T	0.30978	0.0782	H	0.94306	3.52	0.36896	D	0.890179	P	0.42409	0.779	P	0.44518	0.452	T	0.51949	-0.8640	10	0.72032	D	0.01	.	10.0107	0.41984	1.0:0.0:0.0:0.0	.	88	Q8NGL6	O4A15_HUMAN	F	88	ENSP00000325065:Y88F	ENSP00000325065:Y88F	Y	+	2	0	OR4A15	54892198	1.000000	0.71417	0.861000	0.33841	0.982000	0.71751	7.786000	0.85741	1.456000	0.47831	0.403000	0.27427	TAC		PASS	0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		17	284	17	284	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587510	55587510	+	Silent	SNP	T	T	C	rs386753699		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:55587510T>C	ENST00000333976.4	+	1	425	c.405T>C	c.(403-405)gtT>gtC	p.V135V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V135V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTACACAGTTAACATGTCCC	0.468																																						uc010rin.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(403-405)GTT>GTC		olfactory receptor, family 5, subfamily D,							185.0	172.0	176.0					11																	55587510		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587510T>C	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.405T>C	11.37:g.55587510T>C							p.V135V	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	405	+		all_epithelial(135;0.208)	135			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.405T>C	CCDS31510.1																																																																																				PASS	0.468	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		137	288	137	288	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55655725	55655725	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:55655725T>A	ENST00000449290.2	+	4	817	c.725T>A	c.(724-726)gTg>gAg	p.V242E	TRIM51_ENST00000244891.3_Missense_Mutation_p.V99E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	242						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V242E(1)|p.V83E(1)									AAAGCAGATGTGGAGCTACTC	0.448																																						uc010rip.1																			2	Substitution - Missense(2)		lung(2)		0						c.(724-726)GTG>GAG		SPRY domain containing 5							45.0	41.0	42.0					11																	55655725		2200	4293	6493	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655725T>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.725T>A	11.37:g.55655725T>A	ENSP00000395086:p.Val242Glu					SPRYD5_uc010riq.1_Missense_Mutation_p.V99E	p.V242E	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			4	817	+		all_epithelial(135;0.226)	242					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.725T>A		.	.	.	.	.	.	.	.	.	.	.	10.39	1.337035	0.24253	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.08634	3.07;3.07	0.757	0.757	0.18427	.	.	.	.	.	T	0.25901	0.0631	M	0.91090	3.175	0.09310	N	1	D	0.60575	0.988	P	0.59948	0.866	T	0.07770	-1.0755	9	0.72032	D	0.01	.	3.8345	0.08888	0.0:0.0:0.0:1.0	.	242	Q9BSJ1	SPRY5_HUMAN	E	242;99	ENSP00000395086:V242E;ENSP00000244891:V99E	ENSP00000244891:V99E	V	+	2	0	SPRYD5	55412301	0.014000	0.17966	0.125000	0.21846	0.442000	0.32017	-0.291000	0.08343	0.594000	0.29761	0.128000	0.15822	GTG		PASS	0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		21	64	21	64	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59224895	59224895	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:59224895G>A	ENST00000300127.2	+	1	485	c.462G>A	c.(460-462)ttG>ttA	p.L154L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L154L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GTGGTGGTTTGCATTCAATCA	0.512																																						uc010rku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(460-462)TTG>TTA		olfactory receptor, family 4, subfamily D,							284.0	249.0	261.0					11																	59224895		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224895G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.462G>A	11.37:g.59224895G>A							p.L154L	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	462	+			154			Helical; Name=4; (Potential).		B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.462G>A	CCDS31562.1																																																																																				PASS	0.512	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		94	199	94	199	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62416509	62416509	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:62416509G>C	ENST00000330574.2	-	2	1095	c.1043C>G	c.(1042-1044)tCa>tGa	p.S348*	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	348					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.S348*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAAAGCTGGTGACATGACTGC	0.607																																						uc001nud.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1042-1044)TCA>TGA		integrator complex subunit 5							62.0	69.0	67.0					11																	62416509		2202	4299	6501	SO:0001587	stop_gained	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416509G>C	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1043C>G	11.37:g.62416509G>C	ENSP00000327889:p.Ser348*					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.S348*	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1096	-			348					Q8N6W5|Q9C0G5	Nonsense_Mutation	SNP	ENST00000330574.2	37	c.1043C>G	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206787	0.79127	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6556	0.68831	0.0:0.0:1.0:0.0	.	.	.	.	X	348	.	ENSP00000327889:S348X	S	-	2	0	INTS5	62173085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.062000	0.93920	2.320000	0.78422	0.650000	0.86243	TCA		PASS	0.607	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		92	132	92	132	---	---	---	---
PPP1R14B	26472	broad.mit.edu	37	11	64013996	64013996	+	Silent	SNP	C	C	T	rs12787613		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:64013996C>T	ENST00000309318.3	-	1	417	c.150G>A	c.(148-150)gtG>gtA	p.V50V	PPP1R14B_ENST00000392210.2_5'Flank|RP11-783K16.5_ENST00000538355.1_RNA|RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA|PPP1R14B_ENST00000542235.1_5'Flank	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	50					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.V232V(1)		kidney(1)|lung(1)|pancreas(1)	3						CTTGGCGCCTCACTGGGCCCT	0.697																																						uc001nza.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)GTG>GTA		protein phosphatase 1 regulatory subunit 14B							30.0	23.0	25.0					11																	64013996		2197	4297	6494	SO:0001819	synonymous_variant	26472				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr11:64013996C>T	X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.150G>A	11.37:g.64013996C>T							p.V50V	NM_138689	NP_619634	Q96C90	PP14B_HUMAN			1	418	-			50					Q504S7|Q7KZD7	Silent	SNP	ENST00000309318.3	37	c.150G>A	CCDS31596.1																																																																																				PASS	0.697	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396586.2	NM_138689		7	16	7	16	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70333107	70333107	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:70333107C>T	ENST00000423696.2	-	15	2190	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	SHANK2_ENST00000409161.1_Silent_p.R501R|SHANK2_ENST00000449833.2_Silent_p.R502R|SHANK2_ENST00000338508.4_Silent_p.R1098R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	718					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.R502R(3)|p.R1098R(3)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGGGGAGTTCCTCCTGGCTT	0.716																																						uc001oqc.2																			6	Substitution - coding silent(6)		lung(4)|cervix(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3289-3291)AGG>AGA		SH3 and multiple ankyrin repeat domains 2							21.0	26.0	25.0					11																	70333107		2162	4237	6399	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333107C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2154G>A	11.37:g.70333107C>T						SHANK2_uc010rqn.1_Silent_p.R509R|SHANK2_uc001opz.2_Silent_p.R502R|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.R1097R	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3369	-			718					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3291G>A																																																																																					PASS	0.716	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		20	33	20	33	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76900494	76900494	+	Silent	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:76900494C>G	ENST00000409709.3	+	28	3881	c.3609C>G	c.(3607-3609)gcC>gcG	p.A1203A	MYO7A_ENST00000409619.2_Silent_p.A1192A|MYO7A_ENST00000458637.2_Silent_p.A1203A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1203	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.A1203A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTGTTTCGCCCCCTCCGAGA	0.607																																						uc001oyb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(3607-3609)GCC>GCG		myosin VIIA isoform 1							96.0	104.0	102.0					11																	76900494		1996	4157	6153	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76900494C>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3609C>G	11.37:g.76900494C>G						MYO7A_uc010rsm.1_Silent_p.A1192A|MYO7A_uc001oyc.2_Silent_p.A1203A|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Silent_p.A414A	p.A1203A	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			28	3881	+			1203			MyTH4 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.3609C>G	CCDS53683.1																																																																																				PASS	0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		40	90	40	90	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89424278	89424278	+	RNA	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:89424278C>G	ENST00000532352.1	+	0	1741							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.H310D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTATGAAACATCCACAGGA	0.328																																						uc001pda.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(928-930)CAT>GAT		folate hydrolase 1B							136.0	120.0	125.0					11																	89424278		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424278C>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424278C>G							p.H310D	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			11	1454	+			310						Missense_Mutation	SNP	ENST00000532352.1	37	c.928C>G																																																																																					PASS	0.328	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		48	151	48	151	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89911209	89911209	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:89911209G>A	ENST00000534061.1	+	16	2012	c.1782G>A	c.(1780-1782)ttG>ttA	p.L594L	NAALAD2_ENST00000321955.4_Silent_p.L561L|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	594					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.L594L(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGAAGCTTTGAAAAACTATG	0.338																																						uc001pdf.3																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1780-1782)TTG>TTA		N-acetylated alpha-linked acidic dipeptidase 2							74.0	79.0	77.0					11																	89911209		2201	4299	6500	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89911209G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1782G>A	11.37:g.89911209G>A						NAALAD2_uc009yvx.2_Silent_p.L561L|NAALAD2_uc009yvy.2_Intron	p.L594L	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			16	1891	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	594			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.1782G>A	CCDS8288.1																																																																																				PASS	0.338	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		76	149	76	149	---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102479831	102479831	+	Splice_Site	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:102479831T>C	ENST00000260228.2	-	5	662		c.e5-2		RP11-817J15.2_ENST00000542119.1_RNA|MMP20_ENST00000544938.1_5'Flank|RP11-817J15.2_ENST00000544115.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20						hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	AATTAAAACCTAGACAATATG	0.398																																						uc001phc.2																			2	Unknown(2)		lung(1)|kidney(1)	urinary_tract(1)|skin(1)	2						c.e5-1		matrix metalloproteinase 20 preproprotein							58.0	57.0	58.0					11																	102479831		2203	4299	6502	SO:0001630	splice_region_variant	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102479831T>C	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.650-2A>G	11.37:g.102479831T>C							p.G217_splice	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	5	663	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)						D3DUA8|Q9H3Q0	Splice_Site	SNP	ENST00000260228.2	37	c.650_splice	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760195	0.49468	.	.	ENSG00000137674	ENST00000260228	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2365	0.73436	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP20	101985041	1.000000	0.71417	0.949000	0.38748	0.471000	0.32888	7.569000	0.82380	2.254000	0.74563	0.533000	0.62120	.		PASS	0.398	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1		Intron	37	61	37	61	---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113209554	113209554	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:113209554A>G	ENST00000529221.1	+	9	740	c.635A>G	c.(634-636)aAa>aGa	p.K212R	TTC12_ENST00000314756.3_Missense_Mutation_p.K212R|TTC12_ENST00000483239.2_Missense_Mutation_p.K218R|TTC12_ENST00000393020.1_Missense_Mutation_p.K212R	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	212								p.K212R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACCCAGGTGAAAGGTGAGCAC	0.488																																						uc001pnu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(634-636)AAA>AGA		tetratricopeptide repeat domain 12							138.0	135.0	136.0					11																	113209554		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113209554A>G	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.635A>G	11.37:g.113209554A>G	ENSP00000433757:p.Lys212Arg					TTC12_uc001pnv.2_Missense_Mutation_p.K218R|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.K62R	p.K212R	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	9	740	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	212					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.635A>G	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118021	0.77323	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000483239;ENST00000524580	T;T;T;T;T	0.76316	1.58;1.58;-1.01;1.58;1.58	6.08	4.89	0.63831	Armadillo-type fold (1);	0.413135	0.27941	N	0.017240	D	0.85969	0.5821	M	0.76002	2.32	0.38262	D	0.94191	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.88163	0.2859	10	0.66056	D	0.02	-31.2301	10.9351	0.47241	0.8434:0.1566:0.0:0.0	.	212;212	A8K8G6;Q9H892	.;TTC12_HUMAN	R	212;212;168;212;218;38	ENSP00000433757:K212R;ENSP00000315160:K212R;ENSP00000435308:K168R;ENSP00000376743:K212R;ENSP00000419652:K218R	ENSP00000315160:K212R	K	+	2	0	TTC12	112714764	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.850000	0.55918	2.333000	0.79357	0.533000	0.62120	AAA		PASS	0.488	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		45	98	45	98	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857739	113857739	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:113857739C>T	ENST00000504030.2	+	8	1554	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	HTR3A_ENST00000375498.2_Missense_Mutation_p.S376F|HTR3A_ENST00000506841.2_Missense_Mutation_p.S402F|HTR3A_ENST00000355556.2_Missense_Mutation_p.S408F|HTR3A_ENST00000535865.1_Missense_Mutation_p.S114F|HTR3A_ENST00000299961.5_Missense_Mutation_p.S355F			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	370					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.S402F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCAGCCACCTCCCAAGCCACC	0.577																																						uc010rxb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1222-1224)TCC>TTC		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						28.0	31.0	30.0					11																	113857739		2201	4294	6495	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857739C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1109C>T	11.37:g.113857739C>T	ENSP00000424189:p.Ser370Phe					HTR3A_uc010rxa.1_Missense_Mutation_p.S376F|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.S355F	p.S408F	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1456	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	370			Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1223C>T		.	.	.	.	.	.	.	.	.	.	C	11.93	1.785622	0.31593	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.71817	2.02;-0.6;2.02;-0.6;2.02;2.02	4.84	2.48	0.30137	.	1.127390	0.06274	N	0.696232	T	0.61502	0.2352	L	0.35723	1.085	0.47009	D	0.999281	B;B;B	0.19583	0.003;0.037;0.005	B;B;B	0.23419	0.01;0.046;0.017	T	0.49744	-0.8907	10	0.42905	T	0.14	-11.4969	6.3355	0.21294	0.0:0.7085:0.1723:0.1192	.	355;408;376	B4DSY6;G5E986;Q7KZM7	.;.;.	F	370;408;376;402;114;355	ENSP00000424189:S370F;ENSP00000347754:S408F;ENSP00000364648:S376F;ENSP00000424776:S402F;ENSP00000437776:S114F;ENSP00000299961:S355F	ENSP00000299961:S355F	S	+	2	0	HTR3A	113362949	0.000000	0.05858	0.700000	0.30305	0.094000	0.18550	0.442000	0.21628	0.446000	0.26666	-0.305000	0.09177	TCC		PASS	0.577	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		13	41	13	41	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000537140.1_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						uc001ppi.3																			5	Substitution - coding silent(5)		kidney(3)|lung(2)	ovary(2)	2						c.(1027-1029)ACC>ACA		immunoglobulin superfamily, member 4D isoform 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Silent_p.T95T	p.T343T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1158	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).		Extracellular (Potential).			Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				PASS	0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		6	89	6	89	---	---	---	---
KIRREL3	84623	broad.mit.edu	37	11	126299112	126299112	+	Silent	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:126299112G>T	ENST00000525144.2	-	15	2017	c.1768C>A	c.(1768-1770)Cgg>Agg	p.R590R	KIRREL3_ENST00000529097.2_Silent_p.R578R|KIRREL3_ENST00000416561.2_Silent_p.R57R	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	590					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R590R(1)|p.R549R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCACCCTCCCGACCAGAGGCT	0.488																																						uc001qea.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1768-1770)CGG>AGG		kin of IRRE like 3 isoform 1							85.0	94.0	91.0					11																	126299112		1973	4152	6125	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126299112G>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1768C>A	11.37:g.126299112G>T						KIRREL3_uc001qeb.2_Silent_p.R578R|ST3GAL4_uc001qdx.1_Intron	p.R590R	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	15	2129	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	590			Cytoplasmic (Potential).		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1768C>A	CCDS53723.1																																																																																				PASS	0.488	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		20	45	20	45	---	---	---	---
ETS1	2113	broad.mit.edu	37	11	128360362	128360362	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:128360362C>T	ENST00000319397.6	-	2	501	c.192G>A	c.(190-192)ggG>ggA	p.G64G	ETS1_ENST00000531611.1_Silent_p.G64G|ETS1_ENST00000345075.4_Silent_p.G64G|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Silent_p.G64G|ETS1_ENST00000392668.4_Silent_p.G108G	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	64	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G108G(1)|p.G64G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CTTTTGGGATCCCCAGTCGTT	0.443																																						uc010sbs.1																			2	Substitution - coding silent(2)		lung(2)	lung(4)|central_nervous_system(1)|pleura(1)	6						c.(190-192)GGG>GGA		v-ets erythroblastosis virus E26 oncogene							128.0	118.0	121.0					11																	128360362		2201	4297	6498	SO:0001819	synonymous_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128360362C>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.192G>A	11.37:g.128360362C>T						ETS1_uc001qej.2_Silent_p.G108G|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.G64G	p.G64G	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	2	508	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	64			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	ENST00000319397.6	37	c.192G>A	CCDS8475.1																																																																																				PASS	0.443	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		40	158	40	158	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	994619	994619	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:994619C>G	ENST00000315939.6	+	19	5292	c.4649C>G	c.(4648-4650)tCt>tGt	p.S1550C	WNK1_ENST00000537687.1_Missense_Mutation_p.S1810C|WNK1_ENST00000340908.4_Missense_Mutation_p.S1143C|WNK1_ENST00000530271.2_Missense_Mutation_p.S2048C|WNK1_ENST00000535572.1_Missense_Mutation_p.S1303C	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1550					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S1810C(1)|p.S1550C(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCATCTTCCTCTTCCTCTCCT	0.473																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4648-4650)TCT>TGT		WNK lysine deficient protein kinase 1							373.0	332.0	346.0					12																	994619		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994619C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4649C>G	12.37:g.994619C>G	ENSP00000313059:p.Ser1550Cys					WNK1_uc001qip.3_Missense_Mutation_p.S1303C|WNK1_uc001qir.3_Missense_Mutation_p.S723C	p.S1550C	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5156	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1550					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.4649C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	9.965	1.223916	0.22457	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	3.95	3.05	0.35203	.	0.173487	0.41712	N	0.000821	T	0.51210	0.1661	L	0.56769	1.78	0.36766	D	0.883539	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.12156	0.007;0.007;0.003	T	0.59064	-0.7524	10	0.72032	D	0.01	-5.6933	9.4923	0.38967	0.1549:0.6747:0.1704:0.0	.	1303;1303;1550	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	C	1303;1550;1810;723;2048;1143	ENSP00000441972:S1303C;ENSP00000313059:S1550C;ENSP00000444465:S1810C;ENSP00000433548:S2048C;ENSP00000341292:S1143C	ENSP00000252477:S723C	S	+	2	0	WNK1	864880	0.040000	0.19996	0.892000	0.35008	0.524000	0.34500	1.536000	0.36072	1.223000	0.43536	-0.211000	0.12701	TCT		PASS	0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		356	365	356	365	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6076765	6076765	+	Missense_Mutation	SNP	C	C	T	rs142316324	byFrequency	TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:6076765C>T	ENST00000261405.5	-	47	8028	c.7774G>A	c.(7774-7776)Ggg>Agg	p.G2592R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2592	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.G2592R(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACAGTCTTCCCGGGCTGGAAG	0.617																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(7774-7776)GGG>AGG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)	C	ARG/GLY	5,4401	9.9+/-24.2	0,5,2198	126.0	118.0	120.0		7774	4.9	0.5	12	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	VWF	NM_000552.3	125	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	probably-damaging	2592/2814	6076765	6,13000	2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6076765C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7774G>A	12.37:g.6076765C>T	ENSP00000261405:p.Gly2592Arg					VWF_uc010set.1_Intron	p.G2592R	NM_000552	NP_000543	P04275	VWF_HUMAN			47	8024	-			2592			VWFC 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7774G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588252	0.28357	0.001135	1.16E-4	ENSG00000110799	ENST00000261405	T	0.74002	-0.8	4.86	4.86	0.63082	von Willebrand factor, type C (3);	0.000000	0.37530	N	0.002050	D	0.86226	0.5882	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87964	0.2732	10	0.87932	D	0	.	13.3588	0.60644	0.0:1.0:0.0:0.0	.	2592	P04275	VWF_HUMAN	R	2592	ENSP00000261405:G2592R	ENSP00000261405:G2592R	G	-	1	0	VWF	5947026	0.955000	0.32602	0.470000	0.27216	0.111000	0.19643	4.854000	0.62918	2.517000	0.84864	0.561000	0.74099	GGG		PASS	0.617	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		92	135	92	135	---	---	---	---
C1RL	51279	broad.mit.edu	37	12	7249253	7249253	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:7249253C>T	ENST00000266542.4	-	6	1290	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	400	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.E400K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGCAGGCCTCCCTGGGAGCT	0.562																																						uc001qsn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1198-1200)GAG>AAG		complement component 1, r subcomponent-like							113.0	115.0	114.0					12																	7249253		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249253C>T	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1198G>A	12.37:g.7249253C>T	ENSP00000266542:p.Glu400Lys					C1RL_uc009zft.2_3'UTR	p.E400K	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN			6	1215	-			400			Peptidase S1.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.1198G>A	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906692	0.33628	.	.	ENSG00000139178	ENST00000266542;ENST00000396661	D	0.89343	-2.5	4.98	4.06	0.47325	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.499359	0.21050	N	0.081013	D	0.83376	0.5241	L	0.35593	1.075	0.80722	D	1	B	0.25105	0.118	B	0.35278	0.199	T	0.77140	-0.2697	10	0.32370	T	0.25	.	7.7157	0.28702	0.0:0.7482:0.161:0.0908	.	400	Q9NZP8	C1RL_HUMAN	K	400	ENSP00000266542:E400K	ENSP00000266542:E400K	E	-	1	0	C1RL	7140395	0.000000	0.05858	0.491000	0.27477	0.459000	0.32528	1.117000	0.31234	1.265000	0.44215	0.511000	0.50034	GAG		PASS	0.562	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		88	214	88	214	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7636217	7636217	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:7636217C>T	ENST00000359156.4	-	12	3036	c.2834G>A	c.(2833-2835)tGg>tAg	p.W945*	CD163_ENST00000541972.1_Nonsense_Mutation_p.W933*|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Nonsense_Mutation_p.W945*|CD163_ENST00000396620.3_Nonsense_Mutation_p.W978*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	945	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.W945*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ACCTCCATGCCAGATCTCCAC	0.478																																						uc001qsz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(2833-2835)TGG>TAG		CD163 antigen isoform a							105.0	85.0	92.0					12																	7636217		2203	4300	6503	SO:0001587	stop_gained	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7636217C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2834G>A	12.37:g.7636217C>T	ENSP00000352071:p.Trp945*					CD163_uc001qta.3_Nonsense_Mutation_p.W945*|CD163_uc009zfw.2_Nonsense_Mutation_p.W978*	p.W945*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			12	2962	-			945			SRCR 9.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	ENST00000359156.4	37	c.2834G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	40	8.128123	0.98667	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.31	5.31	0.75309	.	0.222665	0.35124	N	0.003426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8682	0.52505	0.1746:0.8254:0.0:0.0	.	.	.	.	X	945;933;978;945	.	ENSP00000352071:W945X	W	-	2	0	CD163	7527484	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.351000	0.07711	2.660000	0.90430	0.555000	0.69702	TGG		PASS	0.478	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		40	97	40	97	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18691231	18691231	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:18691231G>A	ENST00000266497.5	+	23	3380	c.3342G>A	c.(3340-3342)ttG>ttA	p.L1114L	PIK3C2G_ENST00000433979.1_Silent_p.L1114L|PIK3C2G_ENST00000538779.1_Silent_p.L1155L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1114	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.L1114L(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AACTGCTCTTGAACCTGCTGG	0.373																																						uc001rdt.2																			2	Substitution - coding silent(2)		lung(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(3340-3342)TTG>TTA		phosphoinositide-3-kinase, class 2 gamma							65.0	63.0	64.0					12																	18691231		1825	4067	5892	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18691231G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3342G>A	12.37:g.18691231G>A						PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.L1155L|PIK3C2G_uc010sic.1_Silent_p.L933L	p.L1114L	NM_004570	NP_004561	O75747	P3C2G_HUMAN			24	3458	+		Hepatocellular(102;0.194)	1114			PI3K/PI4K.		A1L3U0	Silent	SNP	ENST00000266497.5	37	c.3342G>A	CCDS44839.1																																																																																				PASS	0.373	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		44	87	44	87	---	---	---	---
PCED1B	91523	broad.mit.edu	37	12	47628923	47628923	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:47628923A>G	ENST00000546455.1	+	4	808	c.77A>G	c.(76-78)cAt>cGt	p.H26R	PCED1B_ENST00000432328.1_Missense_Mutation_p.H26R|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	26							hydrolase activity (GO:0016787)	p.H26R(1)									GACTCTGTGCATAGGGCAGTA	0.592																																						uc001rpn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(76-78)CAT>CGT		hypothetical protein LOC91523							75.0	73.0	74.0					12																	47628923		2203	4300	6503	SO:0001583	missense	91523						hydrolase activity	g.chr12:47628923A>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.77A>G	12.37:g.47628923A>G	ENSP00000446688:p.His26Arg					FAM113B_uc010slj.1_Intron|FAM113B_uc001rpq.2_Missense_Mutation_p.H26R	p.H26R	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	808	+	Renal(347;0.138)|Lung SC(27;0.192)		26					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.77A>G	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834966	0.32421	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630;ENST00000551777	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	4.06	4.06	0.47325	Esterase, SGNH hydrolase-type (1);	0.286062	0.28006	N	0.016974	T	0.15522	0.0374	L	0.44542	1.39	0.37087	D	0.899244	P	0.39094	0.659	B	0.38225	0.268	T	0.09862	-1.0655	10	0.72032	D	0.01	-13.0074	9.7097	0.40238	1.0:0.0:0.0:0.0	.	26	Q96HM7	F113B_HUMAN	R	26	ENSP00000446688:H26R;ENSP00000396040:H26R;ENSP00000449680:H26R;ENSP00000448000:H26R;ENSP00000448926:H26R	ENSP00000396040:H26R	H	+	2	0	FAM113B	45915190	1.000000	0.71417	0.980000	0.43619	0.232000	0.25224	5.930000	0.70104	2.077000	0.62373	0.533000	0.62120	CAT		PASS	0.592	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		37	49	37	49	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52163735	52163735	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:52163735G>T	ENST00000354534.6	+	18	3634	c.3456G>T	c.(3454-3456)gaG>gaT	p.E1152D	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1152D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1152					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.E1152D(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AACAGCCTGAGGAATACTTGG	0.512																																						uc001ryw.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(3454-3456)GAG>GAT		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						60.0	62.0	61.0					12																	52163735		2014	4186	6200	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52163735G>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3456G>T	12.37:g.52163735G>T	ENSP00000346534:p.Glu1152Asp					SCN8A_uc010snl.1_Missense_Mutation_p.E1017D	p.E1152D	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	18	3634	+			1152					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.3456G>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658084	0.67586	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.84298	-1.83;-1.83;-1.83	5.07	4.18	0.49190	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	T	0.82015	0.4945	L	0.58969	1.84	0.58432	D	0.999997	P;P	0.47841	0.455;0.901	B;P	0.44422	0.209;0.449	T	0.80491	-0.1359	10	0.40728	T	0.16	.	8.1999	0.31419	0.2863:0.0:0.7137:0.0	.	1152;1152	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	D	1152;1152;1152;1065	ENSP00000346534:E1152D;ENSP00000440360:E1152D;ENSP00000347255:E1152D	ENSP00000346534:E1152D	E	+	3	2	SCN8A	50450002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.242000	0.32755	1.515000	0.48885	0.655000	0.94253	GAG		PASS	0.512	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		6	12	6	12	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53680386	53680386	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:53680386C>T	ENST00000257934.4	+	18	3957	c.3866C>T	c.(3865-3867)gCa>gTa	p.A1289V	ESPL1_ENST00000552462.1_Missense_Mutation_p.A1289V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1289					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.A1289V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAACTTTTTGCAAGCTCCTGG	0.562																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(3865-3867)GCA>GTA		separase							50.0	55.0	53.0					12																	53680386		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680386C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3866C>T	12.37:g.53680386C>T	ENSP00000257934:p.Ala1289Val					ESPL1_uc001scj.2_Missense_Mutation_p.A964V|ESPL1_uc010soe.1_Intron	p.A1289V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			18	3957	+			1289						Missense_Mutation	SNP	ENST00000257934.4	37	c.3866C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285756	0.23478	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12569	2.67;2.67	4.96	4.0	0.46444	.	0.299822	0.37437	N	0.002100	T	0.11793	0.0287	L	0.57536	1.79	0.28332	N	0.921725	P	0.36874	0.572	B	0.27170	0.077	T	0.11372	-1.0590	10	0.31617	T	0.26	.	10.7504	0.46205	0.0:0.8077:0.1923:0.0	.	1289	Q14674	ESPL1_HUMAN	V	1289;964;1289	ENSP00000257934:A1289V;ENSP00000449831:A1289V	ENSP00000257934:A1289V	A	+	2	0	ESPL1	51966653	0.993000	0.37304	0.998000	0.56505	0.236000	0.25371	2.427000	0.44740	2.750000	0.94351	0.561000	0.74099	GCA		PASS	0.562	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		47	71	47	71	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59276795	59276795	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:59276795G>C	ENST00000320743.3	-	12	1622	c.1336C>G	c.(1336-1338)Ctt>Gtt	p.L446V	LRIG3_ENST00000379141.4_Missense_Mutation_p.L386V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	446	LRRCT.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L446V(1)	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)			TCGCACAAAAGGCTTGATGTA	0.393			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1336-1338)CTT>GTT		leucine-rich repeats and immunoglobulin-like							62.0	60.0	60.0					12																	59276795		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59276795G>C	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.1336C>G	12.37:g.59276795G>C	ENSP00000326759:p.Leu446Val					LRIG3_uc009zqh.2_Missense_Mutation_p.L386V|LRIG3_uc010ssh.1_RNA	p.L446V	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		12	1582	-			446			LRRCT.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1336C>G	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631982	0.87660	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.28255	1.62;1.62	6.17	6.17	0.99709	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.33477	N	0.004864	T	0.63733	0.2536	M	0.85542	2.76	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.87578	0.828;0.998	T	0.63278	-0.6673	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	386;446	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	V	386;446	ENSP00000368436:L386V;ENSP00000326759:L446V	.	L	-	1	0	LRIG3	57563062	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.649000	0.74364	2.941000	0.99782	0.655000	0.94253	CTT		PASS	0.393	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		26	65	26	65	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100928734	100928734	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:100928734A>T	ENST00000551379.1	+	4	723	c.695A>T	c.(694-696)cAg>cTg	p.Q232L	NR1H4_ENST00000549996.1_Missense_Mutation_p.Q171L|NR1H4_ENST00000188403.7_Missense_Mutation_p.Q228L|NR1H4_ENST00000392986.3_Missense_Mutation_p.Q222L|NR1H4_ENST00000548884.1_Missense_Mutation_p.Q218L			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	232					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q218L(1)|p.Q232L(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	CATGCAGATCAGACCGTGAAT	0.418																																						uc001tht.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(694-696)CAG>CTG		nuclear receptor subfamily 1, group H, member 4							134.0	110.0	118.0					12																	100928734		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100928734A>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.695A>T	12.37:g.100928734A>T	ENSP00000447149:p.Gln232Leu					NR1H4_uc001thp.1_Missense_Mutation_p.Q218L|NR1H4_uc001thq.1_Missense_Mutation_p.Q222L|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.Q222L|NR1H4_uc010svk.1_Missense_Mutation_p.Q171L|NR1H4_uc001ths.1_Missense_Mutation_p.Q228L	p.Q232L	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			4	723	+			232					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.695A>T	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	A	9.029	0.986814	0.18889	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.93189	-3.05;-3.12;-3.18;-3.13;-3.05	5.64	2.9	0.33743	.	0.362638	0.32314	N	0.006266	D	0.87160	0.6108	L	0.40543	1.245	0.47123	D	0.999329	B;B;B;B;B	0.31383	0.321;0.0;0.321;0.112;0.0	B;B;B;B;B	0.23419	0.046;0.001;0.046;0.015;0.001	T	0.82524	-0.0414	10	0.33940	T	0.23	.	9.0262	0.36232	0.7979:0.1275:0.0746:0.0	.	171;232;228;222;218	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	L	218;222;171;232;228	ENSP00000448506:Q218L;ENSP00000376712:Q222L;ENSP00000448978:Q171L;ENSP00000447149:Q232L;ENSP00000188403:Q228L	ENSP00000188403:Q228L	Q	+	2	0	NR1H4	99452865	1.000000	0.71417	0.926000	0.36857	0.388000	0.30384	4.424000	0.59868	0.930000	0.37217	0.533000	0.62120	CAG		PASS	0.418	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		21	88	21	88	---	---	---	---
GPN3	51184	broad.mit.edu	37	12	110902989	110902989	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:110902989A>C	ENST00000228827.3	-	2	141	c.79T>G	c.(79-81)Tgt>Ggt	p.C27G	GPN3_ENST00000543199.1_Missense_Mutation_p.C66G|GPN3_ENST00000537466.2_Missense_Mutation_p.C37G|GPN3_ENST00000552180.1_5'UTR	NM_016301.3	NP_057385.3			GPN-loop GTPase 3									p.C66G(1)|p.C27G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						AGGGCTTCACAGTGCTGGACC	0.502																																						uc001tqr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(79-81)TGT>GGT		GPN-loop GTPase 3 isoform 1							172.0	138.0	150.0					12																	110902989		2203	4300	6503	SO:0001583	missense	51184					protein complex	GTP binding	g.chr12:110902989A>C	BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"""GPN-loop GTPases"""	30186	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member C"""	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.79T>G	12.37:g.110902989A>C	ENSP00000228827:p.Cys27Gly					GPN3_uc001tqs.2_Missense_Mutation_p.C37G	p.C27G	NM_016301	NP_057385	Q9UHW5	GPN3_HUMAN			2	135	-			27						Missense_Mutation	SNP	ENST00000228827.3	37	c.79T>G	CCDS9147.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.879245	0.51801	.	.	ENSG00000111231	ENST00000228827;ENST00000543199;ENST00000537466;ENST00000550974	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.95	5.95	0.96441	.	0.153194	0.64402	D	0.000006	T	0.23410	0.0566	L	0.52011	1.625	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.17979	0.008;0.02	T	0.02126	-1.1209	10	0.30854	T	0.27	-4.7304	16.4101	0.83708	1.0:0.0:0.0:0.0	.	37;27	Q9UHW5-2;Q9UHW5	.;GPN3_HUMAN	G	27;66;37;5	ENSP00000228827:C27G;ENSP00000442770:C66G;ENSP00000443068:C37G;ENSP00000447480:C5G	ENSP00000228827:C27G	C	-	1	0	GPN3	109387372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.300000	0.51834	2.280000	0.76307	0.460000	0.39030	TGT		PASS	0.502	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404607.1	NM_016301		20	99	20	99	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112686205	112686205	+	Silent	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:112686205T>C	ENST00000430131.2	-	25	3941	c.2796A>G	c.(2794-2796)gaA>gaG	p.E932E	HECTD4_ENST00000377560.5_Silent_p.E1182E|HECTD4_ENST00000550722.1_Silent_p.E1208E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	932					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E1182E(1)|p.E932E(1)									CTTCAGCATGTTCTTCTTGAT	0.373																																						uc009zwc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(2794-2796)GAA>GAG		chromosome 12 open reading frame 51							74.0	68.0	70.0					12																	112686205		1855	4098	5953	SO:0001819	synonymous_variant	283450							g.chr12:112686205T>C	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2796A>G	12.37:g.112686205T>C							p.E932E	NM_001109662	NP_001103132					19	2814	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.2796A>G																																																																																					PASS	0.373	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		23	35	23	35	---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123276602	123276602	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:123276602C>A	ENST00000253079.6	+	6	1050	c.706C>A	c.(706-708)Caa>Aaa	p.Q236K	CCDC62_ENST00000392441.4_Missense_Mutation_p.Q236K|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	236					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Q236K(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAATAATGAGCAACGAGAAGA	0.378																																						uc001udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(706-708)CAA>AAA		coiled-coil domain containing 62 isoform b							130.0	128.0	129.0					12																	123276602		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123276602C>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.706C>A	12.37:g.123276602C>A	ENSP00000253079:p.Gln236Lys					CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.Q236K|CCDC62_uc001ude.2_Intron	p.Q236K	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	6	851	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		236			Potential.		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.706C>A	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098783	0.56183	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.33654	1.41;1.4	5.11	5.11	0.69529	.	0.392770	0.20164	N	0.097900	T	0.55401	0.1918	M	0.70275	2.135	0.80722	D	1	B;D	0.67145	0.449;0.996	B;D	0.76071	0.205;0.987	T	0.48614	-0.9020	10	0.12103	T	0.63	-16.7563	14.4063	0.67083	0.0:1.0:0.0:0.0	.	236;236	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	K	236	ENSP00000253079:Q236K;ENSP00000376236:Q236K	ENSP00000253079:Q236K	Q	+	1	0	CCDC62	121842555	0.994000	0.37717	0.986000	0.45419	0.930000	0.56654	4.400000	0.59709	2.529000	0.85273	0.585000	0.79938	CAA		PASS	0.378	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		4	197	4	197	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133202806	133202806	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:133202806T>A	ENST00000320574.5	-	46	6471	c.6428A>T	c.(6427-6429)cAg>cTg	p.Q2143L	POLE_ENST00000535270.1_Missense_Mutation_p.Q2116L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2143					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.Q2143L(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTCTCGGAACTGGGCCTCCTC	0.582								DNA polymerases (catalytic subunits)																														uc001uks.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(6427-6429)CAG>CTG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							81.0	63.0	69.0					12																	133202806		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133202806T>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6428A>T	12.37:g.133202806T>A	ENSP00000322570:p.Gln2143Leu					POLE_uc001ukq.1_Missense_Mutation_p.Q353L|POLE_uc001ukr.1_Missense_Mutation_p.Q947L|POLE_uc010tbq.1_RNA	p.Q2143L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	46	6472	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2143					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.6428A>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985311	0.74474	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.20200	2.09;2.09;2.09	4.81	4.81	0.61882	.	0.058055	0.64402	D	0.000001	T	0.28962	0.0719	M	0.78049	2.395	0.58432	D	0.999996	B;B	0.31241	0.315;0.23	B;B	0.31495	0.067;0.131	T	0.12578	-1.0542	10	0.54805	T	0.06	.	14.5256	0.67887	0.0:0.0:0.0:1.0	.	2143;353	Q07864;B3KS74	DPOE1_HUMAN;.	L	353;2143;2154;58;2116	ENSP00000322570:Q2143L;ENSP00000406383:Q2154L;ENSP00000445753:Q2116L	ENSP00000322473:Q58L	Q	-	2	0	POLE	131712879	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.059000	0.71133	2.022000	0.59522	0.454000	0.30748	CAG		PASS	0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		12	28	12	28	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133363004	133363004	+	Missense_Mutation	SNP	G	G	A	rs567702653		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr12:133363004G>A	ENST00000450791.2	-	14	3227	c.3044C>T	c.(3043-3045)gCg>gTg	p.A1015V	GOLGA3_ENST00000456883.2_Missense_Mutation_p.A1015V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A1015V|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A1015V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A1015V			Q08378	GOGA3_HUMAN	golgin A3	1015					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.A1015V(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCTTGGCCGCGAGGGCCTC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		13201	0.001		0.0	False		,,,				2504	0.0					uc001ukz.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3043-3045)GCG>GTG		Golgi autoantigen, golgin subfamily a, 3							23.0	21.0	22.0					12																	133363004		2203	4299	6502	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133363004G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3044C>T	12.37:g.133363004G>A	ENSP00000410378:p.Ala1015Val					GOLGA3_uc001ula.1_Missense_Mutation_p.A1015V|GOLGA3_uc001ulb.2_Missense_Mutation_p.A1015V	p.A1015V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	15	3603	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1015			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3044C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600309	0.66332	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.31769	1.91;1.91;1.9;1.48;1.48	5.71	4.8	0.61643	.	0.393893	0.32884	N	0.005525	T	0.29817	0.0745	L	0.60455	1.87	0.80722	D	1	P;P;P	0.46784	0.854;0.854;0.884	B;B;B	0.37144	0.242;0.162;0.165	T	0.08106	-1.0738	10	0.28530	T	0.3	.	16.6258	0.84970	0.0:0.1303:0.8697:0.0	.	1015;1015;1015	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	V	1015	ENSP00000204726:A1015V;ENSP00000410378:A1015V;ENSP00000409303:A1015V;ENSP00000442143:A1015V;ENSP00000442603:A1015V	ENSP00000204726:A1015V	A	-	2	0	GOLGA3	131873077	0.979000	0.34478	0.005000	0.12908	0.562000	0.35680	5.766000	0.68843	1.387000	0.46486	0.655000	0.94253	GCG		PASS	0.652	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		3	32	3	32	---	---	---	---
SCEL	8796	broad.mit.edu	37	13	78192138	78192138	+	Splice_Site	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr13:78192138G>A	ENST00000349847.3	+	27	1655		c.e27-1		SCEL_ENST00000377246.3_Splice_Site|SCEL_ENST00000535157.1_Splice_Site	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin						embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CTTTTAAACAGCCAAGACTTG	0.358																																						uc001vki.2																			1	Unknown(1)		lung(1)	ovary(4)|breast(1)	5						c.e27-1		sciellin isoform 1							99.0	101.0	101.0					13																	78192138		2203	4300	6503	SO:0001630	splice_region_variant	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78192138G>A	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1572-1G>A	13.37:g.78192138G>A						SCEL_uc001vkj.2_Splice_Site_p.S504_splice|SCEL_uc010thx.1_Splice_Site_p.S482_splice	p.S524_splice	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	27	1742	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)						B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Splice_Site	SNP	ENST00000349847.3	37	c.1572_splice	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526726	0.64860	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3739	0.74590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCEL	77090139	0.988000	0.35896	0.288000	0.24862	0.878000	0.50629	2.720000	0.47252	2.777000	0.95525	0.655000	0.94253	.		PASS	0.358	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	Intron	71	110	71	110	---	---	---	---
ABHD13	84945	broad.mit.edu	37	13	108882501	108882501	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr13:108882501A>G	ENST00000375898.3	+	2	1236	c.935A>G	c.(934-936)gAa>gGa	p.E312G		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	312						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.E312G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACTGCACTTGAACAGTTCATC	0.383																																					Pancreas(22;506 789 38166 45896 51596)	uc001vqq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(934-936)GAA>GGA		abhydrolase domain containing 13							61.0	59.0	60.0					13																	108882501		2203	4300	6503	SO:0001583	missense	84945					integral to membrane	hydrolase activity	g.chr13:108882501A>G	AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.935A>G	13.37:g.108882501A>G	ENSP00000365063:p.Glu312Gly						p.E312G	NM_032859	NP_116248	Q7L211	ABHDD_HUMAN			2	1200	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		312					B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	37	c.935A>G	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.515428	0.27123	.	.	ENSG00000139826	ENST00000375898	T	0.43294	0.95	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	N	0.11560	0.145	0.80722	D	1	B	0.15719	0.014	B	0.17098	0.017	T	0.10042	-1.0647	10	0.18710	T	0.47	-19.3066	15.2745	0.73732	1.0:0.0:0.0:0.0	.	312	Q7L211	ABHDD_HUMAN	G	312	ENSP00000365063:E312G	ENSP00000365063:E312G	E	+	2	0	ABHD13	107680502	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	9.215000	0.95146	2.207000	0.71202	0.477000	0.44152	GAA		PASS	0.383	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		45	55	45	55	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356319	42356320	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr14:42356319_42356320GG>CT	ENST00000298119.4	+	3	1680_1681	c.491_492GG>CT	c.(490-492)tGG>tCT	p.W164S	LRFN5_ENST00000554120.1_Missense_Mutation_p.W164S|LRFN5_ENST00000554171.1_Missense_Mutation_p.W164S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	164						integral component of membrane (GO:0016021)		p.W164S(2)|p.W164C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACCATTCCTTGGGATGCTGTTG	0.411										HNSCC(30;0.082)																												uc001wvm.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(490-492)TGG>TCG|c.(490-492)TGG>TGT		leucine rich repeat and fibronectin type III																																				SO:0001583	missense	145581					integral to membrane		g.chr14:42356319G>C|g.chr14:42356320G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	Exception_encountered	14.37:g.42356319_42356320delinsCT	ENSP00000298119:p.Trp164Ser	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.W164S|LRFN5_uc010ana.2_Missense_Mutation_p.W164C	p.W164S|p.W164C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1689|1690	+			164			Extracellular (Potential).|LRR 5.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.491G>C|c.492G>T	CCDS9678.1																																																																																				PASS	0.411	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		45|44	46	44	46	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58605845	58605845	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr14:58605845A>T	ENST00000267485.7	-	2	426	c.232T>A	c.(232-234)Tca>Aca	p.S78T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	78						integral component of membrane (GO:0016021)		p.S78T(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGTACTGCTGACATCATCATT	0.468																																						uc001xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)TCA>ACA		hypothetical protein LOC145407 precursor							208.0	202.0	204.0					14																	58605845		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605845A>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.232T>A	14.37:g.58605845A>T	ENSP00000267485:p.Ser78Thr					C14orf37_uc010tro.1_Missense_Mutation_p.S116T|C14orf37_uc001xdd.2_Missense_Mutation_p.S78T|C14orf37_uc001xde.2_Missense_Mutation_p.S78T	p.S78T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	343	-			78			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.232T>A	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034832	0.35893	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.32515	1.45	5.82	-0.366	0.12545	.	0.835330	0.10585	N	0.657452	T	0.22551	0.0544	L	0.36672	1.1	0.09310	N	1	P;P;P;P	0.45827	0.867;0.867;0.867;0.867	B;B;B;B	0.42282	0.382;0.382;0.382;0.382	T	0.19976	-1.0289	10	0.22706	T	0.39	-0.6983	8.9225	0.35621	0.597:0.0:0.403:0.0	.	116;78;78;78	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	T	78;116	ENSP00000267485:S78T	ENSP00000267485:S78T	S	-	1	0	C14orf37	57675598	0.001000	0.12720	0.000000	0.03702	0.259000	0.26198	0.972000	0.29409	-0.075000	0.12798	0.533000	0.62120	TCA		PASS	0.468	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		9	200	9	200	---	---	---	---
DLST	1743	broad.mit.edu	37	14	75361058	75361058	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr14:75361058A>C	ENST00000334220.4	+	10	777	c.716A>C	c.(715-717)aAg>aCg	p.K239T	DLST_ENST00000334212.6_Missense_Mutation_p.K153T|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	239					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)	p.K239T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CAGCGTCTGAAGGAGGCCCAG	0.463																																						uc001xqv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(715-717)AAG>ACG		dihydrolipoamide S-succinyltransferase (E2							190.0	172.0	178.0					14																	75361058		2203	4300	6503	SO:0001583	missense	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75361058A>C		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.716A>C	14.37:g.75361058A>C	ENSP00000335304:p.Lys239Thr					DLST_uc001xqu.2_Missense_Mutation_p.K151T|DLST_uc001xqt.2_Missense_Mutation_p.K155T|DLST_uc010tuw.1_Missense_Mutation_p.K153T|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.K239T	p.K239T	NM_001933	NP_001924	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	10	779	+			239					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	c.716A>C	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	A	32	5.161256	0.94727	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	T;T;T	0.44881	0.91;0.91;0.91	5.79	5.79	0.91817	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.966	D;D;D;D;D	0.91635	0.996;0.992;0.992;0.999;0.928	T	0.61931	-0.6961	10	0.66056	D	0.02	-56.9129	16.1444	0.81555	1.0:0.0:0.0:0.0	.	153;239;239;151;155	B7Z5W8;Q6IBS5;P36957;Q86TQ8;Q86TW7	.;.;ODO2_HUMAN;.;.	T	239;153;222	ENSP00000335304:K239T;ENSP00000335465:K153T;ENSP00000451957:K222T	ENSP00000238671:K222T	K	+	2	0	DLST	74430811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.223000	0.72356	0.455000	0.32223	AAG		PASS	0.463	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			47	101	47	101	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88652016	88652016	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr14:88652016A>G	ENST00000340700.5	-	7	1931	c.1480T>C	c.(1480-1482)Tgt>Cgt	p.C494R	KCNK10_ENST00000312350.5_Missense_Mutation_p.C499R|KCNK10_ENST00000319231.5_Missense_Mutation_p.C499R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	494					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.C499R(2)|p.C494R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTGAGTTACACATCTTTTCC	0.517																																						uc001xwo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(1480-1482)TGT>CGT		potassium channel, subfamily K, member 10							173.0	165.0	168.0					14																	88652016		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652016A>G	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1480T>C	14.37:g.88652016A>G	ENSP00000343104:p.Cys494Arg					KCNK10_uc001xwm.2_Missense_Mutation_p.C499R|KCNK10_uc001xwn.2_Missense_Mutation_p.C499R	p.C494R	NM_021161	NP_066984	P57789	KCNKA_HUMAN			7	1937	-			494			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1480T>C	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261626	0.39995	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.90732	-2.71;-2.72;-2.7	5.5	5.5	0.81552	.	0.819015	0.11643	N	0.543608	D	0.85066	0.5612	N	0.22421	0.69	0.80722	D	1	B;B;B	0.29716	0.255;0.255;0.255	B;B;B	0.23574	0.047;0.047;0.047	T	0.81289	-0.1000	10	0.59425	D	0.04	.	14.8031	0.69929	1.0:0.0:0.0:0.0	.	494;499;499	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	494;499;499	ENSP00000343104:C494R;ENSP00000310568:C499R;ENSP00000312811:C499R	ENSP00000310568:C499R	C	-	1	0	KCNK10	87721769	0.999000	0.42202	0.998000	0.56505	0.986000	0.74619	3.429000	0.52800	2.102000	0.63906	0.533000	0.62120	TGT		PASS	0.517	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		68	57	68	57	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89123748	89123748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr14:89123748G>A	ENST00000380664.5	-	27	3975	c.3976C>T	c.(3976-3978)Caa>Taa	p.Q1326*	EML5_ENST00000554922.1_Nonsense_Mutation_p.Q1326*|EML5_ENST00000352093.5_Nonsense_Mutation_p.Q1288*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1326						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.Q1326*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTTTTTGTTGTAAATGAGGC	0.313																																						uc001xxg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(3976-3978)CAA>TAA		echinoderm microtubule associated protein like							125.0	108.0	113.0					14																	89123748		1828	4082	5910	SO:0001587	stop_gained	161436					cytoplasm|microtubule		g.chr14:89123748G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3976C>T	14.37:g.89123748G>A	ENSP00000370039:p.Gln1326*					EML5_uc001xxf.2_Nonsense_Mutation_p.Q121*|EML5_uc001xxh.1_Nonsense_Mutation_p.Q465*	p.Q1326*	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			28	4162	-			1326					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	ENST00000380664.5	37	c.3976C>T	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	45	11.554483	0.99575	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	4.99	4.99	0.66335	.	0.070088	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5989	18.0835	0.89451	0.0:0.0:1.0:0.0	.	.	.	.	X	1326;1288;1326	.	ENSP00000298315:Q1288X	Q	-	1	0	EML5	88193501	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.090000	0.94144	2.609000	0.88269	0.650000	0.86243	CAA		PASS	0.313	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			5	7	5	7	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95556996	95556996	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr14:95556996C>A	ENST00000526495.1	-	29	5899	c.5608G>T	c.(5608-5610)Gct>Tct	p.A1870S	DICER1_ENST00000393063.1_Missense_Mutation_p.A1870S|DICER1_ENST00000343455.3_Missense_Mutation_p.A1870S|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000556045.1_Missense_Mutation_p.A768S|DICER1_ENST00000541352.1_Silent_p.R1815R|DICER1_ENST00000527414.1_Missense_Mutation_p.A1870S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1870	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.A1870S(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTTCTCTCAGCCGGGCTGTAA	0.433			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(5608-5610)GCT>TCT		dicer1							135.0	140.0	138.0					14																	95556996		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95556996C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5608G>T	14.37:g.95556996C>A	ENSP00000437256:p.Ala1870Ser					DICER1_uc010avh.1_Missense_Mutation_p.A768S|DICER1_uc001ydv.2_Missense_Mutation_p.A1860S|DICER1_uc001ydx.2_Missense_Mutation_p.A1870S	p.A1870S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	28	5790	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1870			DRBM.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5608G>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420690	0.83559	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	6.07	6.07	0.98685	Double-stranded RNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	.	.	.	0.80722	D	1	B;P	0.48230	0.039;0.907	B;D	0.66602	0.165;0.945	T	0.66002	-0.6031	9	0.15952	T	0.53	-23.501	20.6593	0.99626	0.0:1.0:0.0:0.0	.	768;1870	B3KRG4;Q9UPY3	.;DICER_HUMAN	S	1870;1870;1870;1870;768	ENSP00000343745:A1870S;ENSP00000437256:A1870S;ENSP00000376783:A1870S;ENSP00000435681:A1870S;ENSP00000451041:A768S	ENSP00000343745:A1870S	A	-	1	0	DICER1	94626749	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.324000	0.79115	2.885000	0.99019	0.655000	0.94253	GCT		PASS	0.433	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			125	119	125	119	---	---	---	---
PPP2R5C	5527	broad.mit.edu	37	14	102375969	102375969	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr14:102375969G>C	ENST00000334743.5	+	11	1243	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E399Q|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E430Q|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E454Q|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E399Q	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	399					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.E454Q(1)|p.E399Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTCTTCATGGAGATGAACCA	0.443																																						uc001yko.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1195-1197)GAG>CAG		gamma isoform of regulatory subunit B56, protein							141.0	136.0	138.0					14																	102375969		2203	4300	6503	SO:0001583	missense	5527				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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity	g.chr14:102375969G>C	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1195G>C	14.37:g.102375969G>C	ENSP00000333905:p.Glu399Gln					PPP2R5C_uc010txr.1_Missense_Mutation_p.E430Q|PPP2R5C_uc001ykk.2_Missense_Mutation_p.E454Q|PPP2R5C_uc001ykn.2_Missense_Mutation_p.E399Q|PPP2R5C_uc001ykp.2_Missense_Mutation_p.E399Q|PPP2R5C_uc001ykq.2_Missense_Mutation_p.G254A	p.E399Q	NM_002719	NP_002710	Q13362	2A5G_HUMAN			11	1335	+			399					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1195G>C	CCDS9964.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	32|32|32	5.127867|5.127867|5.127867	0.94473|0.94473|0.94473	.|.|.	.|.|.	ENSG00000078304|ENSG00000078304|ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000445439;ENST00000334743|ENST00000334756|ENST00000555237	T;T;T;T;T|.|.	0.54675|.|.	0.57;0.59;0.56;0.62;0.58|.|.	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	Armadillo-type fold (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.85839|0.85839|0.85839	0.5790|0.5790|0.5790	M|M|M	0.91459|0.91459|0.91459	3.21|3.21|3.21	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D|P|.	0.89917|0.52463|.	0.998;0.999;1.0;0.974;0.993|0.953|.	D;D;D;D;D|P|.	0.83275|0.56216|.	0.956;0.996;0.99;0.925;0.965|0.794|.	D|D|D	0.88860|0.88860|0.88860	0.3325|0.3325|0.3325	10|8|5	0.87932|0.87932|.	D|D|.	0|0|.	-21.1645|-21.1645|-21.1645	18.8514|18.8514|18.8514	0.92232|0.92232|0.92232	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	430;399;399;399;454|254|.	F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33|E9PHN5|.	.;.;2A5G_HUMAN;.;.|.|.	Q|A|C	430;454;428;399;399;399|254|23	ENSP00000412324:E430Q;ENSP00000329009:E454Q;ENSP00000450931:E428Q;ENSP00000262239:E399Q;ENSP00000333905:E399Q|.|.	ENSP00000329009:E454Q|ENSP00000334891:G254A|.	E|G|W	+|+|+	1|2|3	0|0|0	PPP2R5C|PPP2R5C|PPP2R5C	101445722|101445722|101445722	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.830000|9.830000|9.830000	0.99415|0.99415|0.99415	2.428000|2.428000|2.428000	0.82296|0.82296|0.82296	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|TGG		PASS	0.443	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		74	89	74	89	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28520140	28520140	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr15:28520140G>A	ENST00000261609.7	-	6	662	c.554C>T	c.(553-555)gCg>gTg	p.A185V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.A185V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCTTTGCCCGCAGGCCGGGA	0.577																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(553-555)GCG>GTG		hect domain and RLD 2							41.0	46.0	44.0					15																	28520140		2203	4299	6502	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28520140G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.554C>T	15.37:g.28520140G>A	ENSP00000261609:p.Ala185Val					HERC2_uc001zbl.1_5'UTR	p.A185V	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	6	660	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	185						Missense_Mutation	SNP	ENST00000261609.7	37	c.554C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	3.415	-0.119404	0.06838	.	.	ENSG00000128731	ENST00000261609	T	0.38240	1.15	5.62	2.21	0.28008	.	0.758843	0.12007	N	0.508259	T	0.12092	0.0294	N	0.01705	-0.755	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.25082	-1.0142	10	0.23302	T	0.38	.	3.6111	0.08061	0.32:0.0:0.4946:0.1854	.	185	O95714	HERC2_HUMAN	V	185	ENSP00000261609:A185V	ENSP00000261609:A185V	A	-	2	0	HERC2	26193735	0.023000	0.18921	0.003000	0.11579	0.001000	0.01503	1.694000	0.37752	0.713000	0.32060	-0.119000	0.15052	GCG		PASS	0.577	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		3	47	3	47	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34021227	34021227	+	Splice_Site	SNP	A	A	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr15:34021227A>C	ENST00000389232.4	+	47	7273	c.7203A>C	c.(7201-7203)acA>acC	p.T2401T	RYR3_ENST00000415757.3_Splice_Site_p.T2401T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2401	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.T2401T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTAGATACAGTAAGTTGCA	0.363																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(7201-7203)ACA>ACC		ryanodine receptor 3							51.0	50.0	50.0					15																	34021227		1842	4095	5937	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34021227A>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7203+1A>C	15.37:g.34021227A>C						RYR3_uc010bar.2_Silent_p.T2401T	p.T2401T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	47	7273	+		all_lung(180;7.18e-09)	2401			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.7203A>C	CCDS45210.1																																																																																				PASS	0.363	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Silent	18	52	18	52	---	---	---	---
PLCB2	5330	broad.mit.edu	37	15	40594337	40594337	+	Splice_Site	SNP	T	T	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr15:40594337T>G	ENST00000260402.3	-	6	755	c.506A>C	c.(505-507)aAc>aCc	p.N169T	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Splice_Site_p.N169T|PLCB2_ENST00000557821.1_Splice_Site_p.N169T|PLCB2_ENST00000456256.2_Splice_Site_p.N169T	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	169					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.N169T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGGGGCTCACTTCTTCACCGG	0.592																																						uc001zld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(505-507)AAC>ACC		phospholipase C, beta 2							99.0	109.0	106.0					15																	40594337		1935	4125	6060	SO:0001630	splice_region_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40594337T>G		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.506+1A>C	15.37:g.40594337T>G						PLCB2_uc010bbo.2_Missense_Mutation_p.N169T|PLCB2_uc010ucm.1_Missense_Mutation_p.N169T|PLCB2_uc001zle.3_Missense_Mutation_p.N169T	p.N169T	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	6	807	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	169					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.506A>C	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023517	0.54683	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.45276	0.9;0.9;0.9	4.72	4.72	0.59763	.	0.051507	0.85682	D	0.000000	T	0.60586	0.2280	M	0.74647	2.275	0.80722	D	1	D;P;D;P	0.76494	0.979;0.617;0.999;0.848	P;B;P;B	0.61800	0.668;0.27;0.894;0.345	T	0.63576	-0.6606	9	.	.	.	.	14.6575	0.68844	0.0:0.0:0.0:1.0	.	169;169;169;169	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	T	169	ENSP00000260402:N169T;ENSP00000411991:N169T;ENSP00000444652:N169T	.	N	-	2	0	PLCB2	38381629	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	7.233000	0.78125	2.122000	0.65172	0.454000	0.30748	AAC		PASS	0.592	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		Missense_Mutation	97	248	97	248	---	---	---	---
NDUFAF1	51103	broad.mit.edu	37	15	41679764	41679764	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr15:41679764C>G	ENST00000260361.4	-	5	1243	c.862G>C	c.(862-864)Gat>Cat	p.D288H		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	288					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)	p.D288H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TCCACTTTATCAGCCAAGGTG	0.348																																						uc001znx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(862-864)GAT>CAT		NADH dehydrogenase (ubiquinone) 1 alpha							67.0	75.0	72.0					15																	41679764		2202	4300	6502	SO:0001583	missense	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41679764C>G	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.862G>C	15.37:g.41679764C>G	ENSP00000260361:p.Asp288His					NDUFAF1_uc010bcf.2_RNA	p.D288H	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	5	1244	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	288					Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	c.862G>C	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832313	0.91036	.	.	ENSG00000137806	ENST00000260361	T	0.78481	-1.18	5.58	5.58	0.84498	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.91369	0.7277	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92922	0.6356	10	0.87932	D	0	-12.2715	19.5923	0.95520	0.0:1.0:0.0:0.0	.	288	Q9Y375	CIA30_HUMAN	H	288	ENSP00000260361:D288H	ENSP00000260361:D288H	D	-	1	0	NDUFAF1	39467056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.013000	0.76373	2.644000	0.89710	0.557000	0.71058	GAT		PASS	0.348	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		39	71	39	71	---	---	---	---
PYGO1	26108	broad.mit.edu	37	15	55838348	55838348	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr15:55838348G>T	ENST00000302000.6	-	3	1227	c.1133C>A	c.(1132-1134)gCt>gAt	p.A378D	PYGO1_ENST00000563719.1_Missense_Mutation_p.A378D	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	378	Interaction with BCL9.|Interaction with H3K4me2.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A378D(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GAGGCCATAAGCTGTTTCAGT	0.438																																						uc010bfl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1132-1134)GCT>GAT		pygopus homolog 1							129.0	108.0	115.0					15																	55838348		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838348G>T	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.1133C>A	15.37:g.55838348G>T	ENSP00000302327:p.Ala378Asp					PYGO1_uc002adf.1_Missense_Mutation_p.A378D	p.A378D	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	1189	-			378			PHD-type.		A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.1133C>A	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087607	0.76642	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	D	0.84370	-1.84	5.54	5.54	0.83059	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92082	0.5673	10	0.87932	D	0	-14.3999	18.4904	0.90844	0.0:0.0:1.0:0.0	.	378;378	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	D	378	ENSP00000302327:A378D	ENSP00000302327:A378D	A	-	2	0	PYGO1	53625640	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.204000	0.95041	2.605000	0.88082	0.591000	0.81541	GCT		PASS	0.438	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		59	120	59	120	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77907010	77907010	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr15:77907010C>T	ENST00000355300.6	-	2	1413	c.1239G>A	c.(1237-1239)gtG>gtA	p.V413V	LINGO1_ENST00000561030.1_Silent_p.V407V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	413	Ig-like C2-type.|LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V407V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGGGCAGTAGCACATCAGGGA	0.652																																						uc002bct.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1237-1239)GTG>GTA		leucine-rich repeat neuronal 6A							18.0	23.0	21.0					15																	77907010		2092	4190	6282	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907010C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1239G>A	15.37:g.77907010C>T						LINGO1_uc002bcu.1_Silent_p.V407V	p.V413V	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1291	-			413			Extracellular (Potential).|LRRCT.|Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.1239G>A	CCDS45313.1																																																																																				PASS	0.652	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		3	4	3	4	---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91550786	91550786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr15:91550786C>T	ENST00000333371.3	-	8	869	c.516G>A	c.(514-516)tgG>tgA	p.W172*	VPS33B_ENST00000535843.1_Nonsense_Mutation_p.W81*|VPS33B_ENST00000535906.1_Nonsense_Mutation_p.W145*	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	172					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)		p.W172*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAGTGTTGATCCAACGCTGAT	0.522																																						uc002bqp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(514-516)TGG>TGA		vacuolar protein sorting 33B (yeast homolog))							137.0	119.0	125.0					15																	91550786		2198	4298	6496	SO:0001587	stop_gained	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91550786C>T	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.516G>A	15.37:g.91550786C>T	ENSP00000327650:p.Trp172*					VPS33B_uc002bqq.1_Nonsense_Mutation_p.W81*|VPS33B_uc010uqu.1_Nonsense_Mutation_p.W145*	p.W172*	NM_018668	NP_061138	Q9H267	VP33B_HUMAN			8	870	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		172					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Nonsense_Mutation	SNP	ENST00000333371.3	37	c.516G>A	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	40	8.272700	0.98737	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-3.0911	18.8308	0.92139	0.0:1.0:0.0:0.0	.	.	.	.	X	172;145;81;127	.	ENSP00000327650:W172X	W	-	3	0	VPS33B	89351790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.361000	0.73070	2.779000	0.95612	0.655000	0.94253	TGG		PASS	0.522	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		32	79	32	79	---	---	---	---
PKMYT1	9088	broad.mit.edu	37	16	3026838	3026838	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:3026838G>A	ENST00000262300.8	-	3	713	c.205C>T	c.(205-207)Cct>Tct	p.P69S	PKMYT1_ENST00000573944.1_Missense_Mutation_p.P60S|PKMYT1_ENST00000574385.1_Missense_Mutation_p.P60S|PKMYT1_ENST00000574730.1_Intron|PKMYT1_ENST00000440027.2_Missense_Mutation_p.P69S|PKMYT1_ENST00000431515.2_Missense_Mutation_p.P69S	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	69	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P69S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGGTCCGAGGAGGGAAGAGG	0.692																																						uc002csn.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(205-207)CCT>TCT		protein kinase Myt1 isoform 1							7.0	9.0	8.0					16																	3026838		2159	4252	6411	SO:0001583	missense	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3026838G>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.205C>T	16.37:g.3026838G>A	ENSP00000262300:p.Pro69Ser					PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.P69S|PKMYT1_uc002cso.2_Intron|PKMYT1_uc002csp.2_Missense_Mutation_p.P60S|PKMYT1_uc002csq.2_Missense_Mutation_p.P60S|PKMYT1_uc010bsy.1_Missense_Mutation_p.P60S	p.P69S	NM_004203	NP_004194	Q99640	PMYT1_HUMAN			3	648	-			69			Pro-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	c.205C>T	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921110	0.33908	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.61158	0.13;0.21;0.19;0.27	5.78	0.103	0.14526	.	0.463200	0.23070	N	0.052267	T	0.30665	0.0772	N	0.16478	0.41	0.09310	N	1	B;B;B	0.12013	0.001;0.0;0.005	B;B;B	0.09377	0.001;0.0;0.004	T	0.08289	-1.0729	10	0.19147	T	0.46	0.1409	3.4004	0.07321	0.272:0.0:0.2842:0.4438	.	60;69;69	A6NHV6;Q99640;F8W164	.;PMYT1_HUMAN;.	S	69;69;69;69;60	ENSP00000392855:P69S;ENSP00000262300:P69S;ENSP00000397739:P69S;ENSP00000371675:P60S	ENSP00000262300:P69S	P	-	1	0	PKMYT1	2966839	0.000000	0.05858	0.042000	0.18584	0.999000	0.98932	0.190000	0.17057	0.008000	0.14787	0.655000	0.94253	CCT		PASS	0.692	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		6	0	6	0	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11217769	11217769	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:11217769C>T	ENST00000409790.1	+	21	2669	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	CLEC16A_ENST00000409552.3_Silent_p.I795I|CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.I813I(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGGCCGCATCCAGGCAAGGC	0.597																																						uc002dao.2																			2	Whole gene deletion(1)|Substitution - coding silent(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2437-2439)ATC>ATT		C-type lectin domain family 16, member A							32.0	35.0	34.0					16																	11217769		2086	4223	6309	SO:0001819	synonymous_variant	23274							g.chr16:11217769C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2439C>T	16.37:g.11217769C>T						CLEC16A_uc002dan.3_Silent_p.I795I|CLEC16A_uc002dap.2_5'Flank	p.I813I	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			21	2669	+			813						Silent	SNP	ENST00000409790.1	37	c.2439C>T	CCDS45409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.71|10.71	1.426304|1.426304	0.25726|0.25726	.|.	.|.	ENSG00000038532|ENSG00000038532	ENST00000261657|ENST00000428742	.|.	.|.	.|.	5.55|5.55	4.59|4.59	0.56863|0.56863	.|.	.|.	.|.	.|.	.|.	T|T	0.64170|0.64170	0.2574|0.2574	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62732|0.62732	-0.6792|-0.6792	4|4	.|.	.|.	.|.	-26.5056|-26.5056	12.6875|12.6875	0.56956|0.56956	0.2998:0.7002:0.0:0.0|0.2998:0.7002:0.0:0.0	.|.	.|.	.|.	.|.	S|F	5|57	.|.	.|.	P|S	+|+	1|2	0|0	CLEC16A|CLEC16A	11125270|11125270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.362000|1.362000	0.34148|0.34148	1.320000|1.320000	0.45209|0.45209	0.655000|0.655000	0.94253|0.94253	CCA|TCC		PASS	0.597	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		25	11	25	11	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20975048	20975048	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:20975048C>T	ENST00000261383.3	-	53	10157	c.10158G>A	c.(10156-10158)aaG>aaA	p.K3386K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3386					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.K3386K(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGTAATTTCCTTCTTCTGTT	0.512																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(10156-10158)AAG>AAA		dynein, axonemal, heavy chain 3							93.0	77.0	82.0					16																	20975048		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975048C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10158G>A	16.37:g.20975048C>T						DNAH3_uc010vbd.1_Silent_p.K821K	p.K3386K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10158	-			3386					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.10158G>A	CCDS10594.1																																																																																				PASS	0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		35	104	35	104	---	---	---	---
OTOA	146183	broad.mit.edu	37	16	21702908	21702908	+	Silent	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:21702908T>A	ENST00000286149.4	+	8	640	c.639T>A	c.(637-639)tcT>tcA	p.S213S	OTOA_ENST00000388956.4_Silent_p.S134S|OTOA_ENST00000388958.3_Silent_p.S213S			Q7RTW8	OTOAN_HUMAN	otoancorin	213					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.S213S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATTTAGATCTGCAGTGTTCA	0.468																																						uc002djh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(637-639)TCT>TCA		otoancorin isoform 1							99.0	89.0	92.0					16																	21702908		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21702908T>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.639T>A	16.37:g.21702908T>A						uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.S134S	p.S213S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	8	640	+			213					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.639T>A																																																																																					PASS	0.468	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			49	61	49	61	---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926300	22926300	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:22926300C>T	ENST00000261374.3	+	2	955	c.521C>T	c.(520-522)aCg>aTg	p.T174M		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	174					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.T174M(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGCCAGATCACGCTGGAGAAG	0.572																																						uc002dli.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(520-522)ACG>ATG		heparan sulfate D-glucosaminyl							89.0	85.0	87.0					16																	22926300		2197	4300	6497	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926300C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.521C>T	16.37:g.22926300C>T	ENSP00000261374:p.Thr174Met					HS3ST2_uc002dlj.2_RNA	p.T174M	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	593	+			174			Lumenal (Potential).		Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.521C>T	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918201	0.73098	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.44083	0.93	5.25	4.3	0.51218	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71600	-0.4544	10	0.56958	D	0.05	.	13.1287	0.59369	0.0:0.9231:0.0:0.0769	.	174	Q9Y278	HS3S2_HUMAN	M	174;182	ENSP00000261374:T174M	ENSP00000261374:T174M	T	+	2	0	HS3ST2	22833801	1.000000	0.71417	0.841000	0.33234	0.853000	0.48598	7.818000	0.86416	1.225000	0.43566	0.561000	0.74099	ACG		PASS	0.572	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		119	133	119	133	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48264455	48264455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:48264455C>T	ENST00000394747.1	-	2	478	c.129G>A	c.(127-129)tgG>tgA	p.W43*	ABCC11_ENST00000356608.2_Nonsense_Mutation_p.W43*|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.W43*|ABCC11_ENST00000537808.1_Nonsense_Mutation_p.W43*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.W43*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	43					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.W43*(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CTTGCTGACTCCAGGGGCCAT	0.493																																						uc002eff.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(127-129)TGG>TGA		ATP-binding cassette, sub-family C, member 11							34.0	34.0	34.0					16																	48264455		2200	4300	6500	SO:0001587	stop_gained	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48264455C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.129G>A	16.37:g.48264455C>T	ENSP00000378230:p.Trp43*					ABCC11_uc002efg.1_Nonsense_Mutation_p.W43*|ABCC11_uc002efh.1_Nonsense_Mutation_p.W43*|ABCC11_uc010vgl.1_Nonsense_Mutation_p.W43*	p.W43*	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			2	479	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	43			Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Nonsense_Mutation	SNP	ENST00000394747.1	37	c.129G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703754	0.88924	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	.	.	.	4.84	3.86	0.44501	.	0.876206	0.10092	N	0.717068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1914	10.3066	0.43685	0.1975:0.8025:0.0:0.0	.	.	.	.	X	43	.	ENSP00000311326:W43X	W	-	3	0	ABCC11	46821956	0.271000	0.24162	0.960000	0.40013	0.149000	0.21700	0.210000	0.17455	0.992000	0.38840	0.591000	0.81541	TGG		PASS	0.493	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		24	17	24	17	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49669764	49669764	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:49669764G>C	ENST00000561648.1	-	4	3352	c.3299C>G	c.(3298-3300)gCc>gGc	p.A1100G	ZNF423_ENST00000535559.1_Missense_Mutation_p.A983G|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040G|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040G|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983G|ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100G|ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040G	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1100					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A1100G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGTCCGTTGGCGCTGCGGGC	0.692																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3298-3300)GCC>GGC		zinc finger protein 423							16.0	18.0	17.0					16																	49669764		2196	4293	6489	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669764G>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3299C>G	16.37:g.49669764G>C	ENSP00000455426:p.Ala1100Gly					ZNF423_uc010vgn.1_Missense_Mutation_p.A983G	p.A1100G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3597	-		all_cancers(37;0.0155)	1100					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3299C>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756884	0.31137	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08634	3.07;3.1	5.16	5.16	0.70880	.	0.098188	0.64402	D	0.000002	T	0.05547	0.0146	N	0.08118	0	0.39186	D	0.962873	B	0.02656	0.0	B	0.09377	0.004	T	0.43686	-0.9376	9	.	.	.	-16.2003	18.669	0.91504	0.0:0.0:1.0:0.0	.	1100	Q2M1K9	ZN423_HUMAN	G	1100;983	ENSP00000262383:A1100G;ENSP00000442321:A983G	.	A	-	2	0	ZNF423	48227265	1.000000	0.71417	0.953000	0.39169	0.883000	0.51084	6.524000	0.73791	2.404000	0.81709	0.561000	0.74099	GCC		PASS	0.692	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		4	6	4	6	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56928501	56928501	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:56928501G>A	ENST00000563236.1	+	22	2605	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K	SLC12A3_ENST00000566786.1_Silent_p.K868K|SLC12A3_ENST00000262502.5_Silent_p.K859K|SLC12A3_ENST00000438926.2_Silent_p.K869K			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	860					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.K869K(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCAAATGCAAGATCCGTGTGT	0.572																																						uc010ccm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(2578-2580)AAG>AAA		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						142.0	109.0	120.0					16																	56928501		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56928501G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2580G>A	16.37:g.56928501G>A						SLC12A3_uc002ekd.3_Silent_p.K869K|SLC12A3_uc010ccn.2_Silent_p.K868K	p.K860K	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			22	2609	+			860			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.2580G>A	CCDS58464.1																																																																																				PASS	0.572	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			21	21	21	21	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57059739	57059739	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:57059739T>C	ENST00000262510.6	+	6	1109	c.884T>C	c.(883-885)cTg>cCg	p.L295P	NLRC5_ENST00000539144.1_Missense_Mutation_p.L295P|NLRC5_ENST00000436936.1_Missense_Mutation_p.L295P|NLRC5_ENST00000308149.7_Missense_Mutation_p.L295P	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	295	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.L295P(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTCCAGTACCTGGAGAAGAAC	0.562																																						uc002ekk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|breast(1)	7						c.(883-885)CTG>CCG		nucleotide-binding oligomerization domains 27							115.0	113.0	114.0					16																	57059739		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57059739T>C	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.884T>C	16.37:g.57059739T>C	ENSP00000262510:p.Leu295Pro					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.L100P|NLRC5_uc002ekl.2_Missense_Mutation_p.L100P|NLRC5_uc002ekm.2_Missense_Mutation_p.L100P|NLRC5_uc010ccr.1_RNA	p.L295P	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			6	1109	+		all_neural(199;0.225)	295			NACHT.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.884T>C	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062829	0.36373	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.48	5.48	0.80851	NACHT nucleoside triphosphatase (1);	0.000000	0.27991	N	0.017027	D	0.91012	0.7173	M	0.79805	2.47	0.41362	D	0.987432	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.91635	0.999;0.999;0.997;0.998	D	0.91834	0.5478	10	0.54805	T	0.06	.	14.7575	0.69576	0.0:0.0:0.0:1.0	.	295;295;295;295	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	P	295	ENSP00000262510:L295P;ENSP00000308886:L295P;ENSP00000389739:L295P;ENSP00000441727:L295P	ENSP00000262510:L295P	L	+	2	0	NLRC5	55617240	1.000000	0.71417	0.580000	0.28601	0.005000	0.04900	4.843000	0.62838	2.089000	0.63090	0.459000	0.35465	CTG		PASS	0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		11	129	11	129	---	---	---	---
TANGO6	79613	broad.mit.edu	37	16	69074235	69074235	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:69074235G>T	ENST00000261778.1	+	17	3031	c.3019G>T	c.(3019-3021)Gcc>Tcc	p.A1007S	TANGO6_ENST00000561931.1_3'UTR	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	1007						integral component of membrane (GO:0016021)		p.A536S(1)|p.A1007S(1)									GATTGCTGTGGCCAAAACAGA	0.473																																						uc002ewi.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3019-3021)GCC>TCC		transmembrane and coiled-coil domains 7							97.0	94.0	95.0					16																	69074235		2035	4206	6241	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:69074235G>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.3019G>T	16.37:g.69074235G>T	ENSP00000261778:p.Ala1007Ser						p.A1007S	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	17	3031	+		Ovarian(137;0.0568)	1007					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.3019G>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634208	0.67130	.	.	ENSG00000103047	ENST00000261778	T	0.65732	-0.17	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.290655	0.38436	N	0.001683	T	0.59770	0.2218	L	0.55481	1.735	0.38640	D	0.951587	P	0.45348	0.856	B	0.42625	0.393	T	0.60495	-0.7252	10	0.26408	T	0.33	-5.4166	15.5802	0.76428	0.0:0.0:1.0:0.0	.	1007	Q9C0B7	TMCO7_HUMAN	S	1007	ENSP00000261778:A1007S	ENSP00000261778:A1007S	A	+	1	0	TMCO7	67631736	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.130000	0.64745	2.749000	0.94314	0.643000	0.83706	GCC		PASS	0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		5	9	5	9	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71096233	71096233	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:71096233A>T	ENST00000393567.2	-	17	2365	c.2215T>A	c.(2215-2217)Tgt>Agt	p.C739S	HYDIN_ENST00000448691.1_Missense_Mutation_p.C739S|HYDIN_ENST00000321489.5_Missense_Mutation_p.C739S|HYDIN_ENST00000448089.2_Missense_Mutation_p.C739S|HYDIN_ENST00000538248.1_Missense_Mutation_p.C766S|HYDIN_ENST00000541601.1_Missense_Mutation_p.C756S	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	739					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.C739S(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTCCTCACACACCTGGGGG	0.542																																						uc002ezr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(2215-2217)TGT>AGT		hydrocephalus inducing isoform a							22.0	18.0	19.0					16																	71096233		2197	4297	6494	SO:0001583	missense	54768							g.chr16:71096233A>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2215T>A	16.37:g.71096233A>T	ENSP00000377197:p.Cys739Ser					HYDIN_uc010cfz.1_Missense_Mutation_p.C484S|HYDIN_uc002ezv.2_Missense_Mutation_p.C739S|HYDIN_uc010vmc.1_Missense_Mutation_p.C756S|HYDIN_uc010vmd.1_Missense_Mutation_p.C766S	p.C739S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			17	2343	-		Ovarian(137;0.0654)	739					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.2215T>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	5.474	0.272572	0.10349	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601	T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.37	4.88	2.35	0.29111	.	2.331210	0.02869	U	0.131320	T	0.06645	0.0170	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.46871	-0.9160	10	0.07175	T	0.84	.	7.6288	0.28228	0.5734:0.0:0.4265:0.0	.	766;756;739;739	B4DRN4;F5H6V3;Q4G0P3-5;F8WD23	.;.;.;.	S	739;739;739;739;739;766;756	ENSP00000377197:C739S;ENSP00000398544:C739S;ENSP00000394826:C739S;ENSP00000314736:C739S;ENSP00000444970:C766S;ENSP00000437341:C756S	ENSP00000313052:C739S	C	-	1	0	HYDIN	69653734	0.000000	0.05858	0.008000	0.14137	0.025000	0.11179	-0.334000	0.07883	0.124000	0.18369	-0.315000	0.08773	TGT		PASS	0.542	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			8	11	8	11	---	---	---	---
VAT1L	57687	broad.mit.edu	37	16	77850862	77850862	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr16:77850862A>G	ENST00000302536.2	+	2	431	c.278A>G	c.(277-279)gAc>gGc	p.D93G		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	93							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.D93G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGGAATATTGACAACCCTCCC	0.438																																						uc002ffg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(277-279)GAC>GGC		vesicle amine transport protein 1 homolog (T.							135.0	124.0	127.0					16																	77850862		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77850862A>G	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.278A>G	16.37:g.77850862A>G	ENSP00000303129:p.Asp93Gly						p.D93G	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			2	375	+			93					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.278A>G	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359237	0.82353	.	.	ENSG00000171724	ENST00000302536	T	0.39406	1.08	5.63	5.63	0.86233	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	N	0.05330	-0.07	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.45571	-0.9252	10	0.26408	T	0.33	-6.2407	15.5101	0.75772	1.0:0.0:0.0:0.0	.	93	Q9HCJ6	VAT1L_HUMAN	G	93	ENSP00000303129:D93G	ENSP00000303129:D93G	D	+	2	0	VAT1L	76408363	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.962000	0.93254	2.149000	0.67028	0.260000	0.18958	GAC		PASS	0.438	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		58	65	58	65	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4644148	4644148	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:4644148C>T	ENST00000433935.1	+	2	362	c.305C>T	c.(304-306)cCc>cTc	p.P102L	ZMYND15_ENST00000269289.6_Missense_Mutation_p.P102L|ZMYND15_ENST00000573751.2_Missense_Mutation_p.P102L|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000592813.1_Missense_Mutation_p.P102L|CXCL16_ENST00000574412.1_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	102					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P102L(2)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GACCTGAGCCCCTACATCAGC	0.617																																						uc002fyt.2																			2	Substitution - Missense(2)		lung(2)		0						c.(304-306)CCC>CTC		zinc finger, MYND-type containing 15 isoform 2							28.0	31.0	30.0					17																	4644148		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4644148C>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.305C>T	17.37:g.4644148C>T	ENSP00000391742:p.Pro102Leu					CXCL16_uc002fyr.3_5'Flank|CXCL16_uc002fys.3_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.P102L|ZMYND15_uc002fyu.2_Missense_Mutation_p.P102L	p.P102L	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN			2	344	+			102					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.305C>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638505	0.67130	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.51574	0.75;0.7	5.17	5.17	0.71159	.	0.121454	0.37955	N	0.001878	T	0.55816	0.1944	L	0.27053	0.805	0.47441	D	0.999428	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	T	0.58934	-0.7548	10	0.87932	D	0	-10.6612	14.0402	0.64669	0.0:1.0:0.0:0.0	.	102;102	B4DXY5;Q9H091	.;ZMY15_HUMAN	L	102	ENSP00000391742:P102L;ENSP00000269289:P102L	ENSP00000269289:P102L	P	+	2	0	ZMYND15	4590897	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.284000	0.33249	2.692000	0.91855	0.655000	0.94253	CCC		PASS	0.617	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		12	10	12	10	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7637984	7637984	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:7637984G>A	ENST00000572933.1	+	7	2396	c.936G>A	c.(934-936)tcG>tcA	p.S312S	DNAH2_ENST00000389173.2_Silent_p.S312S|DNAH2_ENST00000570791.1_Silent_p.S312S|DNAH2_ENST00000082259.3_Silent_p.S312S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	312	Stem. {ECO:0000250}.		S -> T (in dbSNP:rs3744254).		cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S312S(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCAAGTCGTCCTACTTGG	0.522																																						uc002giu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(934-936)TCG>TCA		dynein heavy chain domain 3							103.0	87.0	93.0					17																	7637984		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7637984G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.936G>A	17.37:g.7637984G>A						DNAH2_uc002git.2_Silent_p.S312S|DNAH2_uc010vuk.1_Silent_p.S312S	p.S312S	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			6	950	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	312			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.936G>A	CCDS32551.1																																																																																				PASS	0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		41	31	41	31	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8215685	8215685	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:8215685C>A	ENST00000361926.3	+	2	438	c.328C>A	c.(328-330)Cca>Aca	p.P110T	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P110T	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	110	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P110T(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCGCCTCCCCAGAACCTGC	0.672																																						uc002glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(328-330)CCA>ACA		Rho guanine exchange factor 15							95.0	103.0	100.0					17																	8215685		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215685C>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.328C>A	17.37:g.8215685C>A	ENSP00000355026:p.Pro110Thr					ARHGEF15_uc002glb.1_Missense_Mutation_p.P110T|ARHGEF15_uc002gld.2_Missense_Mutation_p.P110T|ARHGEF15_uc010vuw.1_Missense_Mutation_p.P110T	p.P110T	NM_173728	NP_776089	O94989	ARHGF_HUMAN			2	449	+			110			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.328C>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	8.777	0.927422	0.18056	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.81247	-1.47;-1.47	4.85	4.85	0.62838	.	0.482977	0.17170	N	0.184335	D	0.83031	0.5166	L	0.27053	0.805	0.26646	N	0.972194	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.75758	-0.3205	10	0.66056	D	0.02	-10.294	13.3958	0.60851	0.0:1.0:0.0:0.0	.	110;110	D3DTR7;O94989	.;ARHGF_HUMAN	T	110	ENSP00000355026:P110T;ENSP00000412505:P110T	ENSP00000355026:P110T	P	+	1	0	ARHGEF15	8156410	0.999000	0.42202	1.000000	0.80357	0.362000	0.29581	3.576000	0.53878	2.549000	0.85964	0.555000	0.69702	CCA		PASS	0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		91	109	91	109	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11648123	11648123	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:11648123G>A	ENST00000262442.4	+	31	6189	c.6121G>A	c.(6121-6123)Gac>Aac	p.D2041N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2041N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2041	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D2041N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGATCACTACGACTGGGGCCT	0.552																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(6121-6123)GAC>AAC		dynein, axonemal, heavy chain 9 isoform 2							58.0	54.0	55.0					17																	11648123		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11648123G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6121G>A	17.37:g.11648123G>A	ENSP00000262442:p.Asp2041Asn					DNAH9_uc010coo.2_Missense_Mutation_p.D1335N	p.D2041N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	31	6189	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2041			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6121G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408569	0.96051	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.14893	2.47;2.47	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64373	-0.6423	10	0.87932	D	0	.	19.3688	0.94475	0.0:0.0:1.0:0.0	.	2041	Q9NYC9	DYH9_HUMAN	N	2041;2041;623	ENSP00000262442:D2041N;ENSP00000414874:D2041N	ENSP00000262442:D2041N	D	+	1	0	DNAH9	11588848	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.813000	0.99286	2.565000	0.86533	0.650000	0.86243	GAC		PASS	0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		30	49	30	49	---	---	---	---
HNF1B	6928	broad.mit.edu	37	17	36093800	36093800	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:36093800C>A	ENST00000225893.4	-	3	920	c.559G>T	c.(559-561)Gtc>Ttc	p.V187F	HNF1B_ENST00000560016.1_Missense_Mutation_p.V187F|HNF1B_ENST00000561193.1_Intron|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	187					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V187F(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAACTCTGGACTGTCTGGTTG	0.483																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(559-561)GTC>TTC		hepatocyte nuclear factor 1-beta isoform 1							75.0	73.0	73.0					17																	36093800		2203	4300	6503	SO:0001583	missense	6928	Hereditary_Prostate_Cancer			endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36093800C>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.559G>T	17.37:g.36093800C>A	ENSP00000225893:p.Val187Phe					HNF1B_uc010wdi.1_Intron|HNF1B_uc010cve.1_5'UTR	p.V187F	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		3	780	-		Breast(25;0.00765)|Ovarian(249;0.15)	187					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.559G>T	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206604	0.58343	.	.	ENSG00000108753	ENST00000225893;ENST00000544593;ENST00000539087	D	0.99259	-5.64	5.7	4.68	0.58851	.	0.292161	0.38111	N	0.001815	D	0.96972	0.9011	N	0.24115	0.695	0.80722	D	1	P	0.46395	0.877	B	0.39299	0.296	D	0.97187	0.9855	10	0.49607	T	0.09	-30.1155	15.2601	0.73615	0.0:0.8595:0.1405:0.0	.	187	P35680	HNF1B_HUMAN	F	187;187;75	ENSP00000225893:V187F	ENSP00000225893:V187F	V	-	1	0	HNF1B	33167913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.727000	0.54984	2.684000	0.91462	0.591000	0.81541	GTC		PASS	0.483	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		30	62	30	62	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56052036	56052036	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:56052036G>A	ENST00000581208.1	-	6	1404	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I	VEZF1_ENST00000584396.1_Missense_Mutation_p.T446I	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	455	4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T455I(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TAAAGGAGAGGTCATGGATAA	0.463																																						uc002ivf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1363-1365)ACC>ATC		zinc finger protein 161							235.0	205.0	215.0					17																	56052036		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56052036G>A	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1364C>T	17.37:g.56052036G>A	ENSP00000462337:p.Thr455Ile						p.T455I	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			6	1507	-			455			4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P.			Missense_Mutation	SNP	ENST00000581208.1	37	c.1364C>T	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878159	0.72294	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.95	5.95	0.96441	.	0.049455	0.85682	D	0.000000	T	0.66809	0.2827	N	0.22421	0.69	0.58432	D	0.999992	D	0.65815	0.995	D	0.70487	0.969	T	0.69476	-0.5135	9	0.87932	D	0	-10.0453	20.3931	0.98965	0.0:0.0:1.0:0.0	.	455	Q14119	VEZF1_HUMAN	I	455	.	ENSP00000258963:T455I	T	-	2	0	VEZF1	53407035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.966000	0.93397	2.824000	0.97209	0.655000	0.94253	ACC		PASS	0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			56	235	56	235	---	---	---	---
C17orf77	146723	broad.mit.edu	37	17	72588710	72588710	+	Silent	SNP	G	G	A	rs372731087		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:72588710G>A	ENST00000392620.1	+	3	887	c.525G>A	c.(523-525)acG>acA	p.T175T	C17orf77_ENST00000328023.2_Silent_p.T175T|CD300LD_ENST00000375352.1_5'Flank	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	175						extracellular region (GO:0005576)		p.T175T(1)		breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGGAGAGGACGGACAAGGCCA	0.607																																						uc002jla.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(523-525)ACG>ACA		hypothetical protein LOC146723		G		1,4405	2.1+/-5.4	0,1,2202	86.0	72.0	77.0		525	-3.9	0.0	17		77	0,8600		0,0,4300	no	coding-synonymous	C17orf77	NM_152460.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		175/244	72588710	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146723					extracellular region		g.chr17:72588710G>A		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.525G>A	17.37:g.72588710G>A						CD300LD_uc002jkz.2_5'Flank	p.T175T	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			3	887	+			175						Silent	SNP	ENST00000392620.1	37	c.525G>A	CCDS32721.1																																																																																				PASS	0.607	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		8	43	8	43	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78221984	78221984	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:78221984G>T	ENST00000361193.3	+	14	1630	c.1350G>T	c.(1348-1350)caG>caT	p.Q450H	SLC26A11_ENST00000546047.2_Missense_Mutation_p.Q450H|SLC26A11_ENST00000572725.1_Missense_Mutation_p.Q450H|SLC26A11_ENST00000411502.3_Missense_Mutation_p.Q450H	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11									p.Q450H(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGGAGGTGCAGTACGGCATCC	0.662																																						uc002jyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1348-1350)CAG>CAT		solute carrier family 26, member 11							60.0	49.0	53.0					17																	78221984		2203	4300	6503	SO:0001583	missense	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78221984G>T		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1350G>T	17.37:g.78221984G>T	ENSP00000355384:p.Gln450His					SLC26A11_uc002jyc.1_Missense_Mutation_p.Q450H|SLC26A11_uc002jyd.1_Missense_Mutation_p.Q450H|SLC26A11_uc010dhv.1_Missense_Mutation_p.Q450H	p.Q450H	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		14	1619	+	all_neural(118;0.0538)		450			Helical; (Potential).			Missense_Mutation	SNP	ENST00000361193.3	37	c.1350G>T	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991883	0.74703	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93366	-3.21;-3.21;-3.21	4.97	3.98	0.46160	.	0.124866	0.56097	D	0.000028	D	0.95281	0.8469	M	0.71581	2.175	0.51233	D	0.99991	D	0.69078	0.997	D	0.64144	0.922	D	0.94991	0.8134	10	0.87932	D	0	-32.3502	10.9348	0.47239	0.0906:0.0:0.9094:0.0	.	450	Q86WA9	S2611_HUMAN	H	450	ENSP00000403998:Q450H;ENSP00000440724:Q450H;ENSP00000355384:Q450H	ENSP00000355384:Q450H	Q	+	3	2	SLC26A11	75836579	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.519000	0.45546	1.066000	0.40716	0.591000	0.81541	CAG		PASS	0.662	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			29	14	29	14	---	---	---	---
METRNL	284207	broad.mit.edu	37	17	81043114	81043114	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:81043114G>A	ENST00000320095.7	+	2	596	c.471G>A	c.(469-471)ccG>ccA	p.P157P	METRNL_ENST00000571814.1_Silent_p.P75P|METRNL_ENST00000570778.1_Silent_p.P75P	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	157					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.P157P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGGCCACGCCGCAGCAGGATA	0.662																																						uc002kgh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(469-471)CCG>CCA		meteorin, glial cell differentiation							49.0	57.0	54.0					17																	81043114		2203	4300	6503	SO:0001819	synonymous_variant	284207					extracellular region		g.chr17:81043114G>A	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.471G>A	17.37:g.81043114G>A						METRNL_uc002kgi.2_Silent_p.P75P	p.P157P	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	596	+	Breast(20;0.000443)|all_neural(118;0.0779)		157					B3KSJ5|Q86VM0	Silent	SNP	ENST00000320095.7	37	c.471G>A	CCDS32779.1																																																																																				PASS	0.662	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		4	112	4	112	---	---	---	---
YES1	7525	broad.mit.edu	37	18	743305	743305	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr18:743305G>A	ENST00000584307.1	-	7	1005	c.835C>T	c.(835-837)Cta>Tta	p.L279L	YES1_ENST00000577961.1_Silent_p.L284L|YES1_ENST00000314574.4_Silent_p.L279L			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L279L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TTAACCTCTAGTCGCAAAGAT	0.428																																						uc002kky.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3						c.(835-837)CTA>TTA		viral oncogene yes-1 homolog 1	Dasatinib(DB01254)						117.0	107.0	110.0					18																	743305		2203	4300	6503	SO:0001819	synonymous_variant	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:743305G>A	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.835C>T	18.37:g.743305G>A						YES1_uc002kkz.2_Silent_p.L279L	p.L279L	NM_005433	NP_005424	P07947	YES_HUMAN			7	1056	-			279			Protein kinase.		A6NLB3|D3DUH1	Silent	SNP	ENST00000584307.1	37	c.835C>T	CCDS11824.1																																																																																				PASS	0.428	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		66	164	66	164	---	---	---	---
PIEZO2	63895	broad.mit.edu	37	18	10677834	10677834	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr18:10677834T>C	ENST00000503781.3	-	49	7651	c.7652A>G	c.(7651-7653)gAt>gGt	p.D2551G	PIEZO2_ENST00000285141.4_Missense_Mutation_p.D343G|PIEZO2_ENST00000538948.1_Missense_Mutation_p.D508G|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D2576G|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000302079.6_Missense_Mutation_p.D2488G	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2551					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.D343G(1)|p.D2551G(1)									AGAAAGCTTATCTGTTGCTAT	0.328																																						uc002kor.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1522-1524)GAT>GGT		family with sequence similarity 38, member B							82.0	77.0	79.0					18																	10677834		2202	4300	6502	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10677834T>C	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7652A>G	18.37:g.10677834T>C	ENSP00000421377:p.Asp2551Gly					FAM38B_uc002koq.2_Missense_Mutation_p.D343G	p.D508G	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			11	1663	-			2551					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.1523A>G		.	.	.	.	.	.	.	.	.	.	T	13.55	2.269830	0.40095	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.72167	-0.63;-0.63	5.61	5.61	0.85477	.	0.066836	0.64402	D	0.000009	T	0.49440	0.1557	N	0.05230	-0.09	0.39141	D	0.962044	B	0.13145	0.007	B	0.14023	0.01	T	0.49698	-0.8912	10	0.18710	T	0.47	.	14.3615	0.66773	0.0:0.0:0.0:1.0	.	445	D6RFZ0	.	G	445;2551;508;343	ENSP00000443129:D508G;ENSP00000285141:D343G	ENSP00000285141:D343G	D	-	2	0	FAM38B	10667834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.665000	0.61547	2.132000	0.65825	0.533000	0.62120	GAT		PASS	0.328	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		35	62	35	62	---	---	---	---
CCDC68	80323	broad.mit.edu	37	18	52609983	52609983	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr18:52609983C>A	ENST00000591504.1	-	3	314	c.40G>T	c.(40-42)Gat>Tat	p.D14Y	CCDC68_ENST00000432185.1_Missense_Mutation_p.D14Y|CCDC68_ENST00000337363.4_Missense_Mutation_p.D14Y	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	14								p.D14Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCCATCTTATCCCTTGGGGGA	0.388																																						uc002lfs.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(40-42)GAT>TAT		coiled-coil domain containing 68							157.0	143.0	148.0					18																	52609983		2203	4300	6503	SO:0001583	missense	80323							g.chr18:52609983C>A		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.40G>T	18.37:g.52609983C>A	ENSP00000466690:p.Asp14Tyr					CCDC68_uc002lft.2_Missense_Mutation_p.D14Y	p.D14Y	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	3	212	-			14					B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	37	c.40G>T	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819002	0.32145	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.23950	1.88;1.88	5.36	-2.91	0.05631	.	3.748480	0.00481	N	0.000138	T	0.30603	0.0770	L	0.29908	0.895	0.09310	N	1	P	0.48016	0.904	P	0.51135	0.66	T	0.44034	-0.9354	10	0.54805	T	0.06	1.4917	11.4642	0.50227	0.0:0.4527:0.0:0.5473	.	14	Q9H2F9	CCD68_HUMAN	Y	14	ENSP00000337209:D14Y;ENSP00000413406:D14Y	ENSP00000337209:D14Y	D	-	1	0	CCDC68	50760981	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-0.193000	0.09573	-0.927000	0.03766	-0.142000	0.14014	GAT		PASS	0.388	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214		60	162	60	162	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59166691	59166691	+	Silent	SNP	T	T	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr18:59166691T>A	ENST00000262717.4	+	3	917	c.519T>A	c.(517-519)acT>acA	p.T173T	CDH20_ENST00000536675.2_Silent_p.T173T|CDH20_ENST00000538374.1_Silent_p.T173T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	173	Cadherin 2. {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.T173T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATGTGGCCACTGTGCCAGAAA	0.483																																						uc010dps.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(517-519)ACT>ACA		cadherin 20, type 2 preproprotein							68.0	70.0	69.0					18																	59166691		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59166691T>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.519T>A	18.37:g.59166691T>A						CDH20_uc002lif.2_Silent_p.T167T	p.T173T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			2	531	+		Colorectal(73;0.186)	173			Extracellular (Potential).|Cadherin 2.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.519T>A	CCDS11977.1																																																																																				PASS	0.483	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		25	49	25	49	---	---	---	---
VPS4B	9525	broad.mit.edu	37	18	61067385	61067385	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr18:61067385G>C	ENST00000238497.5	-	7	889	c.686C>G	c.(685-687)tCc>tGc	p.S229C	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	229					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)	p.S229C(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GAAGATAATGGAGGGCTTGTT	0.328																																						uc002lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(685-687)TCC>TGC		vacuolar protein sorting factor 4B							75.0	78.0	77.0					18																	61067385		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61067385G>C	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.686C>G	18.37:g.61067385G>C	ENSP00000238497:p.Ser229Cys					VPS4B_uc010dpx.2_Missense_Mutation_p.S229C|VPS4B_uc010dpy.2_Missense_Mutation_p.S111C|VPS4B_uc010dpz.1_Missense_Mutation_p.S111C	p.S229C	NM_004869	NP_004860	O75351	VPS4B_HUMAN			7	946	-			229					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.686C>G	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157010	0.94686	.	.	ENSG00000119541	ENST00000238497	D	0.95137	-3.62	5.93	5.93	0.95920	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	0.985;0.96;1.0	P;P;D	0.91635	0.871;0.871;0.999	D	0.95866	0.8887	10	0.66056	D	0.02	-12.7031	20.3465	0.98790	0.0:0.0:1.0:0.0	.	229;229;229	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	C	229	ENSP00000238497:S229C	ENSP00000238497:S229C	S	-	2	0	VPS4B	59218365	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.759000	0.98931	2.798000	0.96311	0.655000	0.94253	TCC		PASS	0.328	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		54	126	54	126	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7172392	7172392	+	Missense_Mutation	SNP	C	C	A	rs267607184		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:7172392C>A	ENST00000302850.5	-	5	1319	c.1177G>T	c.(1177-1179)Ggg>Tgg	p.G393W	INSR_ENST00000341500.5_Missense_Mutation_p.G393W	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	393			G -> R (in LEPRCH; Verona-1). {ECO:0000269|PubMed:1607067}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.G393W(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TTTAGATACCCTGAAATTTCT	0.463																																						uc002mgd.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12	GRCh37	CM920377	INSR	M		c.(1177-1179)GGG>TGG		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						141.0	129.0	133.0					19																	7172392		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7172392C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1177G>T	19.37:g.7172392C>A	ENSP00000303830:p.Gly393Trp					INSR_uc002mge.1_Missense_Mutation_p.G393W|INSR_uc002mgf.2_Missense_Mutation_p.G393W	p.G393W	NM_000208	NP_000199	P06213	INSR_HUMAN			5	1286	-			393		G -> R (in LEPRCH; Verona-1).			Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.1177G>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476436	0.84640	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.88509	-2.39;-2.39	4.94	4.94	0.65067	EGF receptor, L domain (1);	0.000000	0.46758	D	0.000267	D	0.95971	0.8688	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97155	0.9834	10	0.87932	D	0	.	15.6761	0.77326	0.0:1.0:0.0:0.0	.	384;393;393	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	W	393	ENSP00000303830:G393W;ENSP00000342838:G393W	ENSP00000303830:G393W	G	-	1	0	INSR	7123392	1.000000	0.71417	0.927000	0.36925	0.922000	0.55478	7.459000	0.80802	2.294000	0.77228	0.561000	0.74099	GGG		PASS	0.463	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			4	182	4	182	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8174207	8174207	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:8174207C>A	ENST00000600128.1	-	36	4936	c.4522G>T	c.(4522-4524)Gcc>Tcc	p.A1508S	FBN3_ENST00000270509.2_Missense_Mutation_p.A1508S|FBN3_ENST00000601739.1_Missense_Mutation_p.A1508S			Q75N90	FBN3_HUMAN	fibrillin 3	1508	TB 6.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.A1508S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCGATCTCGGCACTGCAGGAA	0.602																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4522-4524)GCC>TCC		fibrillin 3 precursor							105.0	89.0	94.0					19																	8174207		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8174207C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4522G>T	19.37:g.8174207C>A	ENSP00000470498:p.Ala1508Ser						p.A1508S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			35	4543	-			1508			TB 6.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4522G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577094	0.28092	.	.	ENSG00000142449	ENST00000270509	D	0.92446	-3.04	4.23	3.18	0.36537	Matrix fibril-associated (3);TGF-beta binding (1);	0.134575	0.47852	U	0.000201	D	0.89619	0.6767	N	0.11201	0.11	0.38312	D	0.943275	D	0.76494	0.999	D	0.83275	0.996	D	0.86301	0.1680	10	0.17369	T	0.5	.	11.8021	0.52133	0.0:0.9113:0.0:0.0887	.	1508	Q75N90	FBN3_HUMAN	S	1508	ENSP00000270509:A1508S	ENSP00000270509:A1508S	A	-	1	0	FBN3	8080207	0.104000	0.21937	0.018000	0.16275	0.682000	0.39822	2.409000	0.44583	0.888000	0.36160	0.313000	0.20887	GCC		PASS	0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		35	90	35	90	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10904484	10904484	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:10904484C>T	ENST00000355667.6	+	8	1161	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	DNM2_ENST00000389253.4_Nonsense_Mutation_p.R361*|DNM2_ENST00000585892.1_Nonsense_Mutation_p.R361*|DNM2_ENST00000359692.6_Nonsense_Mutation_p.R361*|DNM2_ENST00000314646.5_Nonsense_Mutation_p.R361*|DNM2_ENST00000408974.4_Nonsense_Mutation_p.R361*	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	361					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.R361*(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGGGGGCGCCCGAATCAATCG	0.602			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1				Rec	yes		19	19p13.2	1785		dynamin 2			L					2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(1081-1083)CGA>TGA		dynamin 2 isoform 2							98.0	104.0	102.0					19																	10904484		2203	4300	6503	SO:0001587	stop_gained	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10904484C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1081C>T	19.37:g.10904484C>T	ENSP00000347890:p.Arg361*					DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Nonsense_Mutation_p.R361*|DNM2_uc002mpv.1_Nonsense_Mutation_p.R361*|DNM2_uc002mpu.1_Nonsense_Mutation_p.R361*|DNM2_uc010dxl.1_Nonsense_Mutation_p.R361*|DNM2_uc002mpw.2_Nonsense_Mutation_p.R94*	p.R361*	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		8	1245	+			361					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Nonsense_Mutation	SNP	ENST00000355667.6	37	c.1081C>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	38	6.957511	0.97964	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	.	.	.	4.93	3.87	0.44632	.	0.052315	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1512	11.6733	0.51415	0.278:0.722:0.0:0.0	.	.	.	.	X	350;361;361;361;361;361	.	ENSP00000313164:R361X	R	+	1	2	DNM2	10765484	0.963000	0.33076	0.998000	0.56505	0.990000	0.78478	1.453000	0.35167	2.274000	0.75844	0.655000	0.94253	CGA		PASS	0.602	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		70	157	70	157	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17722649	17722649	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:17722649T>C	ENST00000519716.2	-	42	4573	c.4574A>G	c.(4573-4575)gAc>gGc	p.D1525G	UNC13A_ENST00000252773.7_Missense_Mutation_p.D1525G|UNC13A_ENST00000428389.2_Missense_Mutation_p.D1613G|UNC13A_ENST00000550896.1_Missense_Mutation_p.D1498G|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1519G|CTD-3149D2.3_ENST00000600512.1_RNA|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1544G	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1525					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.D1613G(1)|p.D1525G(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACCCACAGGGTCTTCTACACC	0.592																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(4837-4839)GAC>GGC		unc-13 homolog A							111.0	109.0	110.0					19																	17722649		2111	4249	6360	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17722649T>C	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4574A>G	19.37:g.17722649T>C	ENSP00000429562:p.Asp1525Gly						p.D1613G	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			41	4838	-			1525					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4838A>G	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971964	0.53614	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;T	0.81579	-1.5;-1.51;-1.5;-1.38;-1.35;-1.47	4.75	4.75	0.60458	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.73575	0.3604	L	0.42686	1.345	0.48511	D	0.999669	B	0.09022	0.002	B	0.13407	0.009	T	0.69654	-0.5087	10	0.39692	T	0.17	-23.6677	12.2759	0.54735	0.0:0.0:0.0:1.0	.	1525	Q9UPW8	UN13A_HUMAN	G	1525;1613;1525;1544;1519;1498	ENSP00000429562:D1525G;ENSP00000400409:D1613G;ENSP00000252773:D1525G;ENSP00000447236:D1544G;ENSP00000447572:D1519G;ENSP00000446831:D1498G	ENSP00000252773:D1525G	D	-	2	0	UNC13A	17583649	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.627000	0.83176	1.793000	0.52555	0.449000	0.29647	GAC		PASS	0.592	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	121	5	121	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935683	30935683	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:30935683C>T	ENST00000355537.3	+	2	1361	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	405					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.S405F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGAACAAGTCCCCCAGCGAC	0.627																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1213-1215)TCC>TTC		zinc finger protein 536							51.0	53.0	52.0					19																	30935683		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935683C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1214C>T	19.37:g.30935683C>T	ENSP00000347730:p.Ser405Phe					ZNF536_uc010edd.1_Missense_Mutation_p.S405F	p.S405F	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1352	+	Esophageal squamous(110;0.0834)		405					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1214C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520820	0.27211	.	.	ENSG00000198597	ENST00000355537	T	0.09073	3.02	5.44	5.44	0.79542	.	0.053546	0.85682	D	0.000000	T	0.05777	0.0151	N	0.02011	-0.69	0.53005	D	0.99996	P;P	0.49961	0.93;0.93	P;P	0.44732	0.459;0.459	T	0.52990	-0.8501	10	0.62326	D	0.03	-21.0417	19.25	0.93921	0.0:1.0:0.0:0.0	.	405;405	A7E228;O15090	.;ZN536_HUMAN	F	405	ENSP00000347730:S405F	ENSP00000347730:S405F	S	+	2	0	ZNF536	35627523	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.038000	0.70964	2.535000	0.85469	0.591000	0.81541	TCC		PASS	0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		16	79	16	79	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39008173	39008173	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:39008173G>A	ENST00000359596.3	+	66	9860	c.9860G>A	c.(9859-9861)cGc>cAc	p.R3287H	RYR1_ENST00000355481.4_Missense_Mutation_p.R3287H|RYR1_ENST00000360985.3_Missense_Mutation_p.R3287H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3287					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R3287H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGGTGGGAGCGCGGGCCCGAG	0.687																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(9859-9861)CGC>CAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						36.0	31.0	33.0					19																	39008173		2203	4298	6501	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008173G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9860G>A	19.37:g.39008173G>A	ENSP00000352608:p.Arg3287His					RYR1_uc002oiu.2_Missense_Mutation_p.R3287H|RYR1_uc002oiv.1_Missense_Mutation_p.R207H|RYR1_uc010xuf.1_Missense_Mutation_p.R207H	p.R3287H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	9990	+	all_cancers(60;7.91e-06)		3287					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9860G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	8.933	0.963906	0.18583	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.88509	-2.39;-2.39;-2.39	3.83	2.8	0.32819	.	0.000000	0.64402	U	0.000003	T	0.79587	0.4471	L	0.34521	1.04	0.36947	D	0.892668	B;B;B	0.21688	0.059;0.027;0.016	B;B;B	0.15484	0.013;0.005;0.002	T	0.71013	-0.4715	10	0.09084	T	0.74	.	10.6282	0.45521	0.097:0.0:0.903:0.0	.	3287;3287;3287	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	3287;3287;3287;207	ENSP00000352608:R3287H;ENSP00000347667:R3287H;ENSP00000354254:R3287H	ENSP00000347667:R3287H	R	+	2	0	RYR1	43700013	0.978000	0.34361	0.999000	0.59377	0.361000	0.29550	2.271000	0.43364	0.814000	0.34374	0.205000	0.17691	CGC		PASS	0.687	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			16	17	16	17	---	---	---	---
DLL3	10683	broad.mit.edu	37	19	39989646	39989646	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:39989646C>A	ENST00000205143.4	+	1	39	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	DLL3_ENST00000356433.5_Missense_Mutation_p.S11Y|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	11					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)	p.S11Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGCTCCTCTCCCAGACTGTG	0.622																																						uc002olx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(31-33)TCC>TAC		delta-like 3 protein isoform 1 precursor							119.0	98.0	105.0					19																	39989646		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39989646C>A	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.32C>A	19.37:g.39989646C>A	ENSP00000205143:p.Ser11Tyr					DLL3_uc010egq.2_Missense_Mutation_p.S11Y|DLL3_uc002olw.2_Missense_Mutation_p.S11Y	p.S11Y	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	90	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		11					E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.32C>A	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248347	0.39797	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.89939	-2.52;-2.59	3.96	-2.42	0.06542	.	1.490260	0.04328	N	0.351907	T	0.77942	0.4206	N	0.24115	0.695	0.09310	N	1	P;P;P	0.39576	0.679;0.679;0.679	B;B;B	0.35413	0.133;0.202;0.092	T	0.68281	-0.5450	9	.	.	.	.	4.676	0.12712	0.0:0.4153:0.1613:0.4234	.	11;11;11	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	Y	11	ENSP00000348810:S11Y;ENSP00000205143:S11Y	.	S	+	2	0	DLL3	44681486	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.450000	0.06803	-0.283000	0.09115	-1.080000	0.02220	TCC		PASS	0.622	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			64	118	64	118	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41074173	41074173	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:41074173G>A	ENST00000352632.3	+	31	7027	c.6941G>A	c.(6940-6942)gGa>gAa	p.G2314E	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G2314E|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G1057E			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2314					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G2314E(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCATCAGAGGAGACCTGGTC	0.642																																						uc002ony.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(6940-6942)GGA>GAA		spectrin, beta, non-erythrocytic 4 isoform							13.0	16.0	15.0					19																	41074173		2193	4291	6484	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41074173G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6941G>A	19.37:g.41074173G>A	ENSP00000263373:p.Gly2314Glu					SPTBN4_uc002onz.2_Missense_Mutation_p.G2314E|SPTBN4_uc010egx.2_Missense_Mutation_p.G1057E	p.G2314E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		31	7027	+			2314					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.6941G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387298	0.42308	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.76060	-0.99;0.37	4.69	1.17	0.20885	.	1.548680	0.04317	U	0.349919	T	0.55433	0.1920	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.001;0.003	T	0.45026	-0.9289	10	0.35671	T	0.21	.	2.8149	0.05453	0.1856:0.1499:0.5274:0.1371	.	1057;2314	C9JY79;Q9H254	.;SPTN4_HUMAN	E	2314;2314;1057	ENSP00000263373:G2314E;ENSP00000375879:G1057E	ENSP00000263373:G2314E	G	+	2	0	SPTBN4	45766013	0.816000	0.29132	1.000000	0.80357	0.647000	0.38526	1.306000	0.33505	0.948000	0.37687	-0.291000	0.09656	GGA		PASS	0.642	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			5	6	5	6	---	---	---	---
CEACAM19	56971	broad.mit.edu	37	19	45179577	45179577	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:45179577C>T	ENST00000403660.3	+	3	669	c.459C>T	c.(457-459)ccC>ccT	p.P153P	CEACAM19_ENST00000358777.4_Silent_p.P153P|CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	153						integral component of membrane (GO:0016021)		p.P153P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CACACCTGCCCACCAACGCTG	0.577																																						uc002ozo.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)CCC>CCT		carcinoembryonic antigen-related cell adhesion							72.0	75.0	74.0					19																	45179577		2203	4300	6503	SO:0001819	synonymous_variant	56971					integral to membrane		g.chr19:45179577C>T	AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.459C>T	19.37:g.45179577C>T						CEACAM19_uc002ozp.3_Silent_p.P153P	p.P153P	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN			3	939	+	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)	153			Extracellular (Potential).		Q5XJ15|Q7Z693	Silent	SNP	ENST00000403660.3	37	c.459C>T	CCDS12641.1																																																																																				PASS	0.577	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323022.1	NM_020219		49	133	49	133	---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45864870	45864870	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:45864870C>T	ENST00000391945.4	-	12	1226	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L	ERCC2_ENST00000391940.4_Silent_p.L359L|ERCC2_ENST00000485403.2_Silent_p.L359L|ERCC2_ENST00000391944.3_Silent_p.L305L	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	383					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.L383L(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCAGAGTATGCAGCAGGGACC	0.622			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - coding silent(1)		lung(1)	lung(2)|pancreas(1)	3						c.(1147-1149)CTG>CTA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							155.0	132.0	140.0					19																	45864870		2203	4300	6503	SO:0001819	synonymous_variant	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45864870C>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1149G>A	19.37:g.45864870C>T						ERCC2_uc002pbh.2_5'Flank|ERCC2_uc002pbi.2_Silent_p.L76L|ERCC2_uc010ejz.2_Silent_p.L305L|ERCC2_uc002pbk.2_Silent_p.L359L|ERCC2_uc002pbl.3_Silent_p.L359L	p.L383L	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	12	1196	-		Ovarian(192;0.0728)|all_neural(266;0.112)	383					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.1149G>A	CCDS33049.1																																																																																				PASS	0.622	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		26	55	26	55	---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49846506	49846506	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:49846506C>G	ENST00000311227.2	-	10	1149	c.1059G>C	c.(1057-1059)caG>caC	p.Q353H	TEAD2_ENST00000601519.1_Missense_Mutation_p.Q356H|CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000377214.4_Missense_Mutation_p.Q356H|TEAD2_ENST00000598810.1_Missense_Mutation_p.Q357H|TEAD2_ENST00000593945.1_Missense_Mutation_p.Q357H|TEAD2_ENST00000539846.1_Missense_Mutation_p.Q225H	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	353	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q353H(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCTCCACCACCTGCTTGCCAA	0.577																																						uc002pnj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1057-1059)CAG>CAC		TEA domain family member 2							111.0	85.0	94.0					19																	49846506		2203	4300	6503	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49846506C>G	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1059G>C	19.37:g.49846506C>G	ENSP00000310701:p.Gln353His					uc002pnb.1_5'Flank|TEAD2_uc002png.2_Missense_Mutation_p.Q356H|TEAD2_uc002pnh.2_Missense_Mutation_p.Q357H|TEAD2_uc002pni.2_Missense_Mutation_p.Q356H|TEAD2_uc010yao.1_Missense_Mutation_p.Q225H|TEAD2_uc010emw.2_Missense_Mutation_p.Q356H	p.Q353H	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	10	1150	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	353			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.1059G>C	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156109	0.57259	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.36699	1.24;1.24;1.24	3.97	0.447	0.16608	.	0.000000	0.53938	D	0.000041	T	0.52108	0.1714	M	0.76002	2.32	0.50467	D	0.999873	P;P;D	0.67145	0.617;0.913;0.996	B;P;D	0.75020	0.329;0.854;0.985	T	0.49771	-0.8904	10	0.87932	D	0	-8.3433	6.8616	0.24069	0.0:0.5539:0.0:0.4461	.	225;353;356	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	H	353;356;225	ENSP00000310701:Q353H;ENSP00000366419:Q356H;ENSP00000437928:Q225H	ENSP00000310701:Q353H	Q	-	3	2	TEAD2	54538318	0.986000	0.35501	0.999000	0.59377	0.962000	0.63368	0.324000	0.19610	0.060000	0.16281	0.561000	0.74099	CAG		PASS	0.577	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		28	74	28	74	---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51021853	51021853	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:51021853G>C	ENST00000599957.1	-	3	1314	c.1117C>G	c.(1117-1119)Ctc>Gtc	p.L373V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.L373V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	373	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.L373V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGACGTTGAGGTCCGTGGGC	0.657																																						uc002pss.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1117-1119)CTC>GTC		leucine rich repeat containing 4B precursor							48.0	56.0	53.0					19																	51021853		2126	4243	6369	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021853G>C	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1117C>G	19.37:g.51021853G>C	ENSP00000471502:p.Leu373Val						p.L373V	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1254	-		all_neural(266;0.131)	373			Extracellular (Potential).|Ig-like C2-type.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1117C>G	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707666	0.48412	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.63417	-0.04	3.9	3.9	0.45041	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000002	T	0.45518	0.1346	N	0.11870	0.19	0.53005	D	0.999963	B	0.31893	0.345	B	0.35770	0.21	T	0.45920	-0.9228	10	0.32370	T	0.25	.	13.7911	0.63140	0.0:0.0:1.0:0.0	.	373	Q9NT99	LRC4B_HUMAN	V	373	ENSP00000373853:L373V	ENSP00000373853:L373V	L	-	1	0	LRRC4B	55713665	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.660000	0.83776	2.192000	0.70111	0.561000	0.74099	CTC		PASS	0.657	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		17	34	17	34	---	---	---	---
KLK5	25818	broad.mit.edu	37	19	51452339	51452339	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:51452339A>T	ENST00000336334.3	-	4	720	c.368T>A	c.(367-369)cTg>cAg	p.L123Q	CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.L123Q|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.L123Q	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	123	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L123Q(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AACTGGTGACAGGGAGTAGTG	0.562																																						uc002pue.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CTG>CAG		kallikrein-related peptidase 5 preproprotein							89.0	93.0	92.0					19																	51452339		2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51452339A>T	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.368T>A	19.37:g.51452339A>T	ENSP00000337733:p.Leu123Gln					KLK5_uc002puf.2_Missense_Mutation_p.L123Q|KLK5_uc002pug.2_Missense_Mutation_p.L123Q	p.L123Q	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	586	-		all_neural(266;0.026)	123			Peptidase S1.		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.368T>A	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	a	15.76	2.927900	0.52759	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.94376	-3.41;-3.41	4.06	0.542	0.17174	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.306795	0.17782	U	0.162206	D	0.93690	0.7984	L	0.58101	1.795	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	D	0.85183	0.1005	10	0.87932	D	0	.	2.9395	0.05825	0.4949:0.2376:0.2675:0.0	.	123	Q9Y337	KLK5_HUMAN	Q	123	ENSP00000337733:L123Q;ENSP00000375685:L123Q	ENSP00000337733:L123Q	L	-	2	0	KLK5	56144151	0.003000	0.15002	0.001000	0.08648	0.120000	0.20174	0.155000	0.16362	0.149000	0.19098	0.460000	0.39030	CTG		PASS	0.562	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		48	108	48	108	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53994933	53994933	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:53994933G>C	ENST00000396403.4	+	4	1575	c.1447G>C	c.(1447-1449)Gta>Cta	p.V483L	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V483L(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TTCAGCCCTCGTAATTCATAC	0.398																																						uc002qbu.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1447-1449)GTA>CTA		zinc finger protein 813							62.0	65.0	64.0					19																	53994933		2198	4295	6493	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994933G>C	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1447G>C	19.37:g.53994933G>C	ENSP00000379684:p.Val483Leu					ZNF813_uc010eqq.1_Intron	p.V483L	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1575	+			483			C2H2-type 10.			Missense_Mutation	SNP	ENST00000396403.4	37	c.1447G>C	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	4.233	0.042062	0.08196	.	.	ENSG00000198346	ENST00000396403	T	0.17691	2.26	1.15	-0.4	0.12411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	N	0.03268	-0.37	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.40232	-0.9574	9	0.27082	T	0.32	.	4.8273	0.13423	0.6057:0.0:0.3943:0.0	.	483	Q6ZN06	ZN813_HUMAN	L	483	ENSP00000379684:V483L	ENSP00000379684:V483L	V	+	1	0	ZNF813	58686745	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.563000	0.00215	0.194000	0.20326	0.197000	0.17608	GTA		PASS	0.398	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		41	66	41	66	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55144573	55144573	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:55144573C>T	ENST00000396331.1	+	8	1422	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	LILRB1_ENST00000427581.2_Silent_p.F391F|LILRB1_ENST00000396315.1_Silent_p.F355F|LILRB1_ENST00000396327.3_Silent_p.F355F|LILRB1_ENST00000396317.1_Silent_p.F355F|LILRB1_ENST00000448689.1_Silent_p.F355F|LILRB1_ENST00000434867.2_Silent_p.F355F|LILRB1_ENST00000396321.2_Silent_p.F355F|LILRB1_ENST00000396332.4_Silent_p.F355F|LILRB1_ENST00000324602.7_Silent_p.F355F|LILRB1_ENST00000418536.2_Silent_p.F355F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	355	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.F355F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGCAAACTTTCCTTCTGACCA	0.557										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1063-1065)TTC>TTT		leukocyte immunoglobulin-like receptor,							99.0	107.0	104.0					19																	55144573		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144573C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1065C>T	19.37:g.55144573C>T		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.F355F|LILRB1_uc002qgk.2_Silent_p.F355F|LILRB1_uc002qgm.2_Silent_p.F355F|LILRB1_uc010erq.2_Silent_p.F355F|LILRB1_uc010err.2_RNA	p.F355F	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1405	+			355			Ig-like C2-type 4.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1065C>T	CCDS42617.1																																																																																				PASS	0.557	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			46	113	46	113	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55331449	55331449	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr19:55331449C>A	ENST00000391728.4	+	4	670	c.637C>A	c.(637-639)Ctg>Atg	p.L213M	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L213M|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.L213M|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L213M|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L118M|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L213M	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	213					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.L213M(4)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CAGTGATCCCCTGGACATCGT	0.527																																						uc002qhk.3																			4	Substitution - Missense(4)		lung(2)|kidney(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(637-639)CTG>ATG		killer cell immunoglobulin-like receptor, three							103.0	87.0	92.0					19																	55331449		2180	4125	6305	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55331449C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.637C>A	19.37:g.55331449C>A	ENSP00000375608:p.Leu213Met					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.L155M|KIR3DL1_uc010esf.2_Missense_Mutation_p.L118M|KIR3DL1_uc010yfo.1_Missense_Mutation_p.L155M|KIR3DL1_uc002qhl.3_Missense_Mutation_p.L213M	p.L213M	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	700	+			213			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.637C>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	9.467	1.094708	0.20471	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.01025	5.43;5.43;5.43;5.43;5.43;5.43	1.44	0.17	0.15021	Immunoglobulin-like fold (1);	1.390810	0.05891	U	0.628309	T	0.07324	0.0185	M	0.93678	3.445	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.996;0.997;0.996;0.949	T	0.13683	-1.0500	10	0.87932	D	0	.	5.2035	0.15277	0.0:0.6267:0.3733:0.0	.	213;118;213;213	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	M	213;213;213;191;213;213;118	ENSP00000384528:L213M;ENSP00000443350:L213M;ENSP00000442355:L213M;ENSP00000375608:L213M;ENSP00000326868:L213M;ENSP00000350901:L118M	ENSP00000326868:L213M	L	+	1	2	KIR3DL1	60023261	0.001000	0.12720	0.152000	0.22495	0.009000	0.06853	-0.305000	0.08188	0.130000	0.18549	0.184000	0.17185	CTG		PASS	0.527	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		75	173	75	173	---	---	---	---
TGM3	7053	broad.mit.edu	37	20	2308867	2308867	+	Missense_Mutation	SNP	C	C	A	rs557862374		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr20:2308867C>A	ENST00000381458.5	+	9	1252	c.1189C>A	c.(1189-1191)Cgc>Agc	p.R397S		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	397					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.R397S(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TAATGCCGACCGCATCACCTG	0.562																																						uc002wfx.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1189-1191)CGC>AGC		transglutaminase 3 precursor	L-Glutamine(DB00130)						152.0	115.0	127.0					20																	2308867		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2308867C>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1189C>A	20.37:g.2308867C>A	ENSP00000370867:p.Arg397Ser						p.R397S	NM_003245	NP_003236	Q08188	TGM3_HUMAN			9	1286	+			397					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1189C>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351123	0.24512	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.50001	0.76	5.0	2.98	0.34508	.	0.528179	0.20015	N	0.101038	T	0.35566	0.0936	L	0.50919	1.6	0.32951	D	0.519672	B	0.29037	0.231	B	0.14578	0.011	T	0.45086	-0.9285	10	0.33940	T	0.23	.	7.9874	0.30220	0.1592:0.7541:0.0:0.0867	.	397	Q08188	TGM3_HUMAN	S	397	ENSP00000370867:R397S	ENSP00000370867:R397S	R	+	1	0	TGM3	2256867	0.000000	0.05858	1.000000	0.80357	0.522000	0.34438	-0.031000	0.12287	1.307000	0.44944	0.655000	0.94253	CGC		PASS	0.562	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		39	90	39	90	---	---	---	---
TMC2	117532	broad.mit.edu	37	20	2591193	2591193	+	Silent	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr20:2591193G>T	ENST00000358864.1	+	12	1557	c.1542G>T	c.(1540-1542)ctG>ctT	p.L514L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	514					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.L514L(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CACTCTTCCTGGGGAACCTCT	0.542																																						uc002wgf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1540-1542)CTG>CTT		transmembrane cochlear-expressed protein 2							139.0	114.0	122.0					20																	2591193		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2591193G>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1542G>T	20.37:g.2591193G>T						TMC2_uc002wgg.1_Silent_p.L498L|TMC2_uc010zpw.1_Silent_p.L346L|TMC2_uc010zpx.1_Silent_p.L345L	p.L514L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			12	1557	+			514			Helical; (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.1542G>T	CCDS13029.2																																																																																				PASS	0.542	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			41	65	41	65	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7886836	7886836	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr20:7886836G>T	ENST00000378789.3	-	4	737	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	229	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.T229K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGCAATGATGTCAGTCTTCT	0.398																																						uc002wmw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(685-687)ACA>AAA		hydroxyacid oxidase 1							164.0	154.0	158.0					20																	7886836		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886836G>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.686C>A	20.37:g.7886836G>T	ENSP00000368066:p.Thr229Lys					HAO1_uc010gbu.2_Missense_Mutation_p.T229K	p.T229K	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			4	710	-			229			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.686C>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605704	0.66445	.	.	ENSG00000101323	ENST00000378789	T	0.35236	1.32	5.54	5.54	0.83059	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85220	0.1026	10	0.66056	D	0.02	-18.3308	19.4692	0.94956	0.0:0.0:1.0:0.0	.	229;229	A8K058;Q9UJM8	.;HAOX1_HUMAN	K	229	ENSP00000368066:T229K	ENSP00000368066:T229K	T	-	2	0	HAO1	7834836	1.000000	0.71417	0.598000	0.28837	0.220000	0.24768	9.407000	0.97325	2.596000	0.87737	0.591000	0.81541	ACA		PASS	0.398	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			85	201	85	201	---	---	---	---
TASP1	55617	broad.mit.edu	37	20	13463945	13463945	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr20:13463945T>C	ENST00000337743.4	-	11	1034	c.914A>G	c.(913-915)gAa>gGa	p.E305G	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Missense_Mutation_p.N108D	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	305					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.E305G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ATGTGAACATTCTCTAGCCAG	0.418																																						uc002woi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)GAA>GGA		taspase 1 precursor							162.0	150.0	154.0					20																	13463945		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13463945T>C	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.914A>G	20.37:g.13463945T>C	ENSP00000338624:p.Glu305Gly					TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.E282G|TASP1_uc010zrj.1_RNA	p.E305G	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			11	1031	-			305					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.914A>G	CCDS13116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.134260|5.134260	0.94517|0.94517	.|.	.|.	ENSG00000089123|ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532|ENST00000539805	D;D|.	0.87809|.	-2.3;-2.3|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.098933|.	0.64402|.	D|.	0.000001|.	T|T	0.76314|0.76314	0.3970|0.3970	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	P;P|.	0.46220|.	0.767;0.874|.	B;P|.	0.59825|.	0.376;0.864|.	T|T	0.78892|0.78892	-0.2025|-0.2025	10|6	0.66056|0.66056	D|D	0.02|0.02	-19.3102|-19.3102	15.9648|15.9648	0.79961|0.79961	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	305;282|.	Q9H6P5;Q5JWM4|.	TASP1_HUMAN;.|.	G|D	282;305;282|108	ENSP00000338624:E305G;ENSP00000400580:E282G|.	ENSP00000338624:E305G|ENSP00000444062:N108D	E|N	-|-	2|1	0|0	TASP1|TASP1	13411945|13411945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.162000|7.162000	0.77515|0.77515	2.299000|2.299000	0.77371|0.77371	0.528000|0.528000	0.53228|0.53228	GAA|AAT		PASS	0.418	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		64	119	64	119	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737566	30737566	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr20:30737566A>T	ENST00000398022.2	+	10	1319	c.1084A>T	c.(1084-1086)Atc>Ttc	p.I362F	TM9SF4_ENST00000217315.5_Missense_Mutation_p.I345F	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	362						integral component of membrane (GO:0016021)		p.I345F(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTCATCGTCATCTGTGAGTG	0.617																																						uc002wxj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1084-1086)ATC>TTC		transmembrane 9 superfamily protein member 4							81.0	60.0	67.0					20																	30737566		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30737566A>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1084A>T	20.37:g.30737566A>T	ENSP00000381104:p.Ile362Phe					TM9SF4_uc010zts.1_Missense_Mutation_p.I269F|TM9SF4_uc002wxk.2_Missense_Mutation_p.I345F|TM9SF4_uc010gdz.2_Missense_Mutation_p.I269F	p.I362F	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1319	+			362			Helical; (Potential).		B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1084A>T	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660466	0.88154	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.52295	0.67;0.67	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	L	0.56199	1.76	0.80722	D	1	D;D	0.63046	0.962;0.992	P;D	0.71184	0.85;0.972	T	0.66638	-0.5873	10	0.72032	D	0.01	-25.5355	14.9359	0.70954	1.0:0.0:0.0:0.0	.	269;362	B4DH88;Q92544	.;TM9S4_HUMAN	F	362;345	ENSP00000381104:I362F;ENSP00000217315:I345F	ENSP00000217315:I345F	I	+	1	0	TM9SF4	30201227	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.306000	0.78905	2.109000	0.64355	0.459000	0.35465	ATC		PASS	0.617	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		30	56	30	56	---	---	---	---
KCNS1	3787	broad.mit.edu	37	20	43723628	43723628	+	Silent	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr20:43723628G>A	ENST00000306117.1	-	5	1860	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	KCNS1_ENST00000537075.1_Silent_p.S488S	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	488					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.S488S(1)		endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CCCCATCAATGCTGCTCAGCA	0.577																																						uc002xnc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1462-1464)AGC>AGT		potassium voltage-gated channel							115.0	120.0	118.0					20																	43723628		2203	4300	6503	SO:0001819	synonymous_variant	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43723628G>A	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1464C>T	20.37:g.43723628G>A						KCNS1_uc002xnd.2_Silent_p.S488S	p.S488S	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN			5	1861	-		Myeloproliferative disorder(115;0.0122)	488			Cytoplasmic (Potential).		A2RUL9|B7ZM31|O43652|Q6DJU6	Silent	SNP	ENST00000306117.1	37	c.1464C>T	CCDS13342.1																																																																																				PASS	0.577	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		100	199	100	199	---	---	---	---
WFDC11	259239	broad.mit.edu	37	20	44277374	44277374	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr20:44277374G>A	ENST00000356562.2	-	5	469	c.248C>T	c.(247-249)aCc>aTc	p.T83I	WFDC11_ENST00000324384.3_Missense_Mutation_p.T83I			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	83						extracellular region (GO:0005576)		p.T83I(1)		endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				ATCTCCACTGGTTTCCTGTAA	0.433																																						uc002xpa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)ACC>ATC		WAP four-disulfide core domain 11 precursor							70.0	67.0	68.0					20																	44277374		2203	4300	6503	SO:0001583	missense	259239					extracellular region		g.chr20:44277374G>A	AY047609	CCDS13364.1	20q13.12	2013-01-21			ENSG00000180083	ENSG00000180083		"""WAP four-disulfide core domain containing"""	20478	protein-coding gene	gene with protein product						12206714	Standard	NM_147197		Approved	WAP11	uc002xpa.3	Q8NEX6	OTTHUMG00000046330	ENST00000356562.2:c.248C>T	20.37:g.44277374G>A	ENSP00000348968:p.Thr83Ile						p.T83I	NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN			5	443	-		Myeloproliferative disorder(115;0.0122)	83					E1P624|Q5TGZ6	Missense_Mutation	SNP	ENST00000356562.2	37	c.248C>T	CCDS13364.1	.	.	.	.	.	.	.	.	.	.	G	7.265	0.606037	0.14002	.	.	ENSG00000180083	ENST00000356562;ENST00000324384	T;T	0.32988	1.43;1.43	3.34	-6.68	0.01778	.	4.730770	0.00799	N	0.001401	T	0.15565	0.0375	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.12941	-1.0528	9	0.20046	T	0.44	1.3999	4.4833	0.11778	0.626:0.117:0.1395:0.1175	.	83	Q8NEX6	WFD11_HUMAN	I	83	ENSP00000348968:T83I;ENSP00000318753:T83I	ENSP00000318753:T83I	T	-	2	0	WFDC11	43710788	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.506000	0.02271	-2.156000	0.00790	-0.136000	0.14681	ACC		PASS	0.433	WFDC11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106943.1			25	61	25	61	---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52198011	52198011	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr20:52198011C>G	ENST00000371471.2	-	2	1780	c.1355G>C	c.(1354-1356)gGa>gCa	p.G452A	ZNF217_ENST00000302342.3_Missense_Mutation_p.G452A|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	452					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G452A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGATGGATTCCTTCGGGAAG	0.592																																						uc002xwq.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(1354-1356)GGA>GCA		zinc finger protein 217							66.0	62.0	63.0					20																	52198011		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198011C>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1355G>C	20.37:g.52198011C>G	ENSP00000360526:p.Gly452Ala					ZNF217_uc010gij.1_Missense_Mutation_p.G444A	p.G452A	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		1	1626	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		452					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.1355G>C	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	0.569	-0.841949	0.02671	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08807	3.05;3.05	5.7	3.65	0.41850	.	0.787972	0.11934	N	0.515460	T	0.04724	0.0128	L	0.28274	0.84	0.09310	N	1	B	0.22346	0.068	B	0.15484	0.013	T	0.44236	-0.9341	10	0.10902	T	0.67	-34.563	3.5184	0.07734	0.1626:0.5078:0.2401:0.0895	.	452	O75362	ZN217_HUMAN	A	452	ENSP00000360526:G452A;ENSP00000304308:G452A	ENSP00000304308:G452A	G	-	2	0	ZNF217	51631418	0.015000	0.18098	0.367000	0.25926	0.337000	0.28794	1.076000	0.30729	2.686000	0.91538	0.591000	0.81541	GGA		PASS	0.592	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		38	74	38	74	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62191884	62191884	+	Missense_Mutation	SNP	G	G	A	rs372227006		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr20:62191884G>A	ENST00000467148.1	-	16	7517	c.7448C>T	c.(7447-7449)aCg>aTg	p.T2483M	HELZ2_ENST00000427522.2_Missense_Mutation_p.T1914M	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2483	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T2483M(1)									CCCTTCGTCCGTGGACACCAG	0.642																																						uc002yfm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(7447-7449)ACG>ATG		PPAR-alpha interacting complex protein 285		G	MET/THR,MET/THR	0,4404		0,0,2202	164.0	154.0	157.0		7448,5741	3.2	1.0	20		157	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	81,81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	2483/2650,1914/2081	62191884	2,13002	2202	4300	6502	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62191884G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7448C>T	20.37:g.62191884G>A	ENSP00000417401:p.Thr2483Met					PRIC285_uc002yfl.1_Missense_Mutation_p.T1914M	p.T2483M	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		17	8340	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		2483					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.7448C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637190	0.47049	0.0	2.33E-4	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.92647	-3.08;-3.08	4.12	3.17	0.36434	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94964	0.8371	M	0.81179	2.53	0.51012	D	0.999907	D;D	0.71674	0.998;0.998	D;D	0.66084	0.941;0.924	D	0.94353	0.7581	10	0.87932	D	0	-15.5628	10.2783	0.43523	0.0948:0.0:0.9052:0.0	.	2483;1914	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	M	1914;2483	ENSP00000393257:T1914M;ENSP00000417401:T2483M	ENSP00000393257:T1914M	T	-	2	0	RP4-697K14.7	61662328	1.000000	0.71417	0.962000	0.40283	0.231000	0.25187	6.792000	0.75125	0.739000	0.32628	-0.424000	0.05967	ACG		PASS	0.642	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		4	212	4	212	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10971318	10971318	+	Silent	SNP	G	G	C	rs376595805		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr21:10971318G>C	ENST00000361285.4	-	5	368	c.39C>G	c.(37-39)gtC>gtG	p.V13V	TPTE_ENST00000342420.5_Silent_p.V13V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.V13V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	13					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V13V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTCAATGATGACTCCCGCCA	0.458																																						uc002yip.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(37-39)GTC>GTG		transmembrane phosphatase with tensin homology							126.0	99.0	108.0					21																	10971318		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10971318G>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.39C>G	21.37:g.10971318G>C						TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.V13V|TPTE_uc002yir.1_Silent_p.V13V|TPTE_uc010gkv.1_Intron	p.V13V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	5	407	-			13					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.39C>G	CCDS13560.2																																																																																				PASS	0.458	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			12	97	12	97	---	---	---	---
USP25	29761	broad.mit.edu	37	21	17214842	17214842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr21:17214842G>T	ENST00000285679.6	+	18	2689	c.2320G>T	c.(2320-2322)Gaa>Taa	p.E774*	USP25_ENST00000400183.2_Nonsense_Mutation_p.E774*|USP25_ENST00000285681.2_Nonsense_Mutation_p.E774*|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	774					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.E774*(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TAAAAGTCCTGAAACAGTTTT	0.413																																						uc002yjy.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|liver(2)	5						c.(2320-2322)GAA>TAA		ubiquitin specific peptidase 25							131.0	133.0	132.0					21																	17214842		2203	4300	6503	SO:0001587	stop_gained	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17214842G>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2320G>T	21.37:g.17214842G>T	ENSP00000285679:p.Glu774*					USP25_uc011aby.1_Nonsense_Mutation_p.E774*|USP25_uc002yjz.1_Nonsense_Mutation_p.E774*|USP25_uc010gla.1_Intron	p.E774*	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	18	2537	+			774					C0LSZ0|Q6DHZ9|Q9H9W1	Nonsense_Mutation	SNP	ENST00000285679.6	37	c.2320G>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	45	11.568392	0.99577	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	.	.	.	5.32	5.32	0.75619	.	0.048574	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9925	0.92798	0.0:0.0:1.0:0.0	.	.	.	.	X	774	.	ENSP00000285679:E774X	E	+	1	0	USP25	16136713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.818000	0.91991	2.502000	0.84385	0.655000	0.94253	GAA		PASS	0.413	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			193	173	193	173	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28305361	28305361	+	Silent	SNP	C	C	T	rs141311682		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr21:28305361C>T	ENST00000284987.5	-	5	1813	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	564	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T564T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CATGGCTTGACGTCTGAAATA	0.433																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1690-1692)ACG>ACA		ADAM metallopeptidase with thrombospondin type 1		C		1,4405	2.1+/-5.4	0,1,2202	62.0	54.0	57.0		1692	0.6	1.0	21	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	ADAMTS5	NM_007038.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		564/931	28305361	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28305361C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1692G>A	21.37:g.28305361C>T							p.T564T	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			5	2421	-			564			Disintegrin.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1692G>A	CCDS13579.1																																																																																				PASS	0.433	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			12	67	12	67	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32638871	32638871	+	Missense_Mutation	SNP	T	T	A	rs200774156		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr21:32638871T>A	ENST00000286827.3	-	5	889	c.418A>T	c.(418-420)Aca>Tca	p.T140S	TIAM1_ENST00000541036.1_Missense_Mutation_p.T140S|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	140					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T140S(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCAAATATGTAGCGTCATCC	0.542																																						uc002yow.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(418-420)ACA>TCA		T-cell lymphoma invasion and metastasis 1							102.0	89.0	93.0					21																	32638871		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638871T>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.418A>T	21.37:g.32638871T>A	ENSP00000286827:p.Thr140Ser					TIAM1_uc011adk.1_Missense_Mutation_p.T140S|TIAM1_uc011adl.1_Missense_Mutation_p.T140S|TIAM1_uc002yox.1_Intron	p.T140S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			5	890	-			140					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.418A>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	8.963	0.970934	0.18659	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.39787	1.06;1.06	5.05	-3.81	0.04294	.	0.407372	0.27126	N	0.020807	T	0.15998	0.0385	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.09574	-1.0668	10	0.20519	T	0.43	.	2.6463	0.04985	0.0994:0.2713:0.3307:0.2986	.	140;140;140	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	S	140	ENSP00000286827:T140S;ENSP00000441570:T140S	ENSP00000286827:T140S	T	-	1	0	TIAM1	31560742	0.224000	0.23674	0.006000	0.13384	0.993000	0.82548	0.509000	0.22707	-0.743000	0.04784	0.482000	0.46254	ACA		PASS	0.542	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		52	97	52	97	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37649359	37649359	+	Silent	SNP	G	G	T	rs532590294		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr21:37649359G>T	ENST00000399151.3	+	28	5758	c.5673G>T	c.(5671-5673)ccG>ccT	p.P1891P		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1891					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.P1891P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CATCCGCCCCGTCGGTGTACA	0.493																																						uc002yvg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5671-5673)CCG>CCT		pad-1-like							173.0	126.0	142.0					21																	37649359		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37649359G>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5673G>T	21.37:g.37649359G>T						DOPEY2_uc011aeb.1_Silent_p.P1840P	p.P1891P	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			28	5752	+			1891					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.5673G>T	CCDS13643.1																																																																																				PASS	0.493	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		47	65	47	65	---	---	---	---
RRP1B	23076	broad.mit.edu	37	21	45095037	45095037	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr21:45095037G>T	ENST00000340648.4	+	6	659	c.542G>T	c.(541-543)gGg>gTg	p.G181V		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	181					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)	p.G181V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAAGTCGGGGGGAAGGAGGTA	0.572																																						uc002zdk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(541-543)GGG>GTG		ribosomal RNA processing 1 homolog B							87.0	88.0	87.0					21																	45095037		2203	4300	6503	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45095037G>T	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.542G>T	21.37:g.45095037G>T	ENSP00000339145:p.Gly181Val						p.G181V	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	6	656	+			181					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.542G>T	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633758	0.67130	.	.	ENSG00000160208	ENST00000340648	T	0.42131	0.98	5.38	4.44	0.53790	.	0.103259	0.64402	D	0.000004	T	0.53610	0.1807	L	0.46157	1.445	0.58432	D	0.999998	D	0.89917	1.0	D	0.67103	0.949	T	0.54529	-0.8280	10	0.87932	D	0	-1.7085	11.5122	0.50500	0.0:0.2772:0.7227:0.0	.	181	Q14684	RRP1B_HUMAN	V	181	ENSP00000339145:G181V	ENSP00000339145:G181V	G	+	2	0	RRP1B	43919465	0.998000	0.40836	0.681000	0.30009	0.782000	0.44232	3.720000	0.54933	2.689000	0.91719	0.655000	0.94253	GGG		PASS	0.572	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		36	60	36	60	---	---	---	---
IGLV3-19	28797	broad.mit.edu	37	22	23063547	23063547	+	RNA	SNP	C	C	G	rs376292689		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr22:23063547C>G	ENST00000390309.2	+	0	294									immunoglobulin lambda variable 3-19																		GGCTCCAGCTCAGGAAACACA	0.542																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							64.0	67.0	66.0					22																	23063547		1928	4136	6064			96610							g.chr22:23063547C>G	X56178		22q11.2	2012-02-08			ENSG00000211663	ENSG00000211663		"""Immunoglobulins / IGL locus"""	5903	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151226		22.37:g.23063547C>G														167		+									RNA	SNP	ENST00000390309.2	37	c.9746C>G																																																																																					PASS	0.542	IGLV3-19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321830.1	NG_000002		21	45	21	45	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41573348	41573348	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr22:41573348C>A	ENST00000263253.7	+	31	6852	c.5633C>A	c.(5632-5634)aCc>aAc	p.T1878N	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1878					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.T1878N(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTCAGCCTACCCCTCCCAAT	0.652			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(5632-5634)ACC>AAC		E1A binding protein p300							105.0	93.0	97.0					22																	41573348		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573348C>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5633C>A	22.37:g.41573348C>A	ENSP00000263253:p.Thr1878Asn						p.T1878N	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	6028	+			1878					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5633C>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894286	0.17613	.	.	ENSG00000100393	ENST00000263253	D	0.83335	-1.71	5.36	5.36	0.76844	.	0.151110	0.30695	N	0.009074	T	0.69993	0.3173	N	0.11427	0.14	0.29126	N	0.879946	B	0.26975	0.165	B	0.24155	0.051	T	0.65125	-0.6244	10	0.38643	T	0.18	.	16.5628	0.84570	0.0:1.0:0.0:0.0	.	1878	Q09472	EP300_HUMAN	N	1878	ENSP00000263253:T1878N	ENSP00000263253:T1878N	T	+	2	0	EP300	39903294	0.984000	0.35163	0.951000	0.38953	0.955000	0.61496	5.748000	0.68697	2.513000	0.84729	0.561000	0.74099	ACC		PASS	0.652	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		4	190	4	190	---	---	---	---
ARSH	347527	broad.mit.edu	37	X	2947377	2947377	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chrX:2947377A>G	ENST00000381130.2	+	8	1289	c.1289A>G	c.(1288-1290)tAt>tGt	p.Y430C		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	430					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.Y430C(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGTGGGGTCTATCTGCACACG	0.567																																						uc011mhj.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1288-1290)TAT>TGT		arylsulfatase family, member H							130.0	99.0	110.0					X																	2947377		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2947377A>G	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1289A>G	X.37:g.2947377A>G	ENSP00000370522:p.Tyr430Cys						p.Y430C	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			8	1289	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	430						Missense_Mutation	SNP	ENST00000381130.2	37	c.1289A>G	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466627	0.26335	.	.	ENSG00000205667	ENST00000381130	D	0.89810	-2.57	3.5	0.912	0.19349	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.415223	0.24483	U	0.038123	D	0.91885	0.7431	M	0.91561	3.22	0.27884	N	0.939578	D	0.54601	0.967	P	0.54401	0.751	D	0.84732	0.0746	10	0.39692	T	0.17	.	5.5702	0.17192	0.7322:0.1697:0.098:0.0	.	430	Q5FYA8	ARSH_HUMAN	C	430	ENSP00000370522:Y430C	ENSP00000370522:Y430C	Y	+	2	0	ARSH	2957377	0.678000	0.27586	0.005000	0.12908	0.016000	0.09150	5.755000	0.68750	-0.179000	0.10654	0.486000	0.48141	TAT		PASS	0.567	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		65	34	65	34	---	---	---	---
RAB9A	9367	broad.mit.edu	37	X	13727147	13727147	+	Silent	SNP	C	C	T			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chrX:13727147C>T	ENST00000464506.1	+	3	561	c.282C>T	c.(280-282)agC>agT	p.S94S	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	94					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S94S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATTCACAAAGCTTCCAGAACT	0.438																																						uc004cvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(280-282)AGC>AGT		RAB9A, member RAS oncogene family							114.0	110.0	112.0					X																	13727147		2203	4300	6503	SO:0001819	synonymous_variant	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727147C>T	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.282C>T	X.37:g.13727147C>T						RAB9A_uc010neh.2_Silent_p.S94S	p.S94S	NM_004251	NP_004242	P51151	RAB9A_HUMAN			3	464	+			94					A8K390|Q6ICN1	Silent	SNP	ENST00000464506.1	37	c.282C>T	CCDS14156.1																																																																																				PASS	0.438	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		124	69	124	69	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32398798	32398798	+	Splice_Site	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chrX:32398798C>A	ENST00000357033.4	-	34	4881		c.e34-1		DMD_ENST00000378677.2_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.?(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCTGTTACCTGAAAAGAAT	0.299																																						uc004dda.1																			4	Unknown(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.e34-1		dystrophin Dp427m isoform							76.0	70.0	72.0					X																	32398798		2201	4298	6499	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32398798C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4675-1G>T	X.37:g.32398798C>A						DMD_uc004dcw.2_Splice_Site_p.V215_splice|DMD_uc004dcx.2_Splice_Site_p.V218_splice|DMD_uc004dcz.2_Splice_Site_p.V1436_splice|DMD_uc004dcy.1_Splice_Site_p.V1555_splice|DMD_uc004ddb.1_Splice_Site_p.V1551_splice|DMD_uc010ngo.1_Intron	p.V1559_splice	NM_004006	NP_003997	P11532	DMD_HUMAN			34	4919	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)						E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.4675_splice	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.511929	0.85389	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5327	0.90999	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMD	32308719	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.815000	0.86186	2.319000	0.78375	0.534000	0.68092	.		PASS	0.299	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Intron	4	110	4	110	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71350235	71350235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chrX:71350235C>A	ENST00000545866.1	-	1	1523	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	RGAG4_ENST00000609883.1_Nonsense_Mutation_p.E386*|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	386	Glu-rich.							p.E459*(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ttcttcatttcttcctccttc	0.498																																						uc010nlh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1156-1158)GAA>TAA		retrotransposon gag domain containing 4							89.0	74.0	79.0					X																	71350235		2038	4139	6177	SO:0001587	stop_gained	340526							g.chrX:71350235C>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1156G>T	X.37:g.71350235C>A	ENSP00000441366:p.Glu386*					NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	p.E386*	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	1517	-	Renal(35;0.156)		386			Glu-rich.		A7E2W7|Q8NCM4|Q9NPX1	Nonsense_Mutation	SNP	ENST00000545866.1	37	c.1156G>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.786221	0.96937	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	.	.	.	3.65	1.89	0.25635	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.4076	0.07347	0.0:0.5319:0.2145:0.2537	.	.	.	.	X	386	.	.	E	-	1	0	RGAG4	71266960	0.512000	0.26186	0.112000	0.21494	0.003000	0.03518	2.618000	0.46393	0.373000	0.24621	-0.351000	0.07748	GAA		PASS	0.498	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		10	9	10	9	---	---	---	---
RBM41	55285	broad.mit.edu	37	X	106331793	106331793	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chrX:106331793C>G	ENST00000372479.3	-	5	830	c.800G>C	c.(799-801)gGg>gCg	p.G267A	RBM41_ENST00000203616.8_Intron|RBM41_ENST00000372487.1_Missense_Mutation_p.G267A	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	267							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G267A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CTTCTTAGGCCCAGTCCAACA	0.448																																						uc004emz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(799-801)GGG>GCG		RNA binding motif protein 41							75.0	69.0	71.0					X																	106331793		2203	4300	6503	SO:0001583	missense	55285						nucleotide binding|RNA binding	g.chrX:106331793C>G	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.800G>C	X.37:g.106331793C>G	ENSP00000361557:p.Gly267Ala					RBM41_uc004emy.1_Missense_Mutation_p.G267A	p.G267A	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN			5	831	-			267					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	c.800G>C	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033199	0.35893	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	T;T	0.24908	1.83;1.85	6.05	2.11	0.27256	.	0.330102	0.31427	N	0.007679	T	0.17195	0.0413	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.07102	-1.0790	10	0.31617	T	0.26	.	4.5498	0.12107	0.0:0.5626:0.1604:0.277	.	267	Q96IZ5	RBM41_HUMAN	A	267	ENSP00000361565:G267A;ENSP00000361557:G267A	ENSP00000361557:G267A	G	-	2	0	RBM41	106218449	0.458000	0.25760	1.000000	0.80357	0.999000	0.98932	-0.005000	0.12855	0.694000	0.31654	0.594000	0.82650	GGG		PASS	0.448	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		68	49	68	49	---	---	---	---
HPRT1	3251	broad.mit.edu	37	X	133632689	133632689	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chrX:133632689A>G	ENST00000298556.7	+	8	743	c.584A>G	c.(583-585)tAt>tGt	p.Y195C		NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	195			Y -> C (in GOUT-HPRT; Dirranbandi, Asia). {ECO:0000269|PubMed:15571223, ECO:0000269|PubMed:17027311}.		adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.Y195C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352)	GCCCTTGACTATAATGAATAC	0.289																																						uc004exl.3																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM043295|CM920977	HPRT1	M		c.(583-585)TAT>TGT		hypoxanthine phosphoribosyltransferase 1	Mercaptopurine(DB01033)|Thioguanine(DB00352)						79.0	72.0	74.0					X																	133632689		2203	4299	6502	SO:0001583	missense	3251				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chrX:133632689A>G	M26434	CCDS14641.1	Xq26.2	2012-10-02	2008-08-01		ENSG00000165704	ENSG00000165704	2.4.2.8		5157	protein-coding gene	gene with protein product	"""Lesch-Nyhan syndrome"""	308000		HPRT		12175903	Standard	NM_000194		Approved	HGPRT	uc004exl.4	P00492	OTTHUMG00000022452	ENST00000298556.7:c.584A>G	X.37:g.133632689A>G	ENSP00000298556:p.Tyr195Cys					HPRT1_uc010nrs.2_RNA	p.Y195C	NM_000194	NP_000185	P00492	HPRT_HUMAN			8	751	+	Acute lymphoblastic leukemia(192;0.000127)		195		Y -> C (in GOUT-HPRT; Dirranbandi).			A6NHF0|B2R8M9	Missense_Mutation	SNP	ENST00000298556.7	37	c.584A>G	CCDS14641.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073357	0.76415	.	.	ENSG00000165704	ENST00000298556;ENST00000370796	D	0.99735	-6.58	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.95645	3.7	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96926	0.9677	10	0.87932	D	0	-15.9911	14.1526	0.65395	1.0:0.0:0.0:0.0	.	195	P00492	HPRT_HUMAN	C	195	ENSP00000298556:Y195C	ENSP00000298556:Y195C	Y	+	2	0	HPRT1	133460355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.534000	0.90620	1.940000	0.56252	0.486000	0.48141	TAT		PASS	0.289	HPRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058361.1	NM_000194		41	22	41	22	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134987483	134987483	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chrX:134987483C>G	ENST00000370709.3	+	4	386	c.386C>G	c.(385-387)tCa>tGa	p.S129*	SAGE1_ENST00000324447.3_Nonsense_Mutation_p.S129*|SAGE1_ENST00000535938.1_Nonsense_Mutation_p.S129*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.S129*			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	129						nucleus (GO:0005634)		p.S129*(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAAGTCTTGTCAACTGCTCCA	0.463																																						uc004ezh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(385-387)TCA>TGA		sarcoma antigen 1							217.0	140.0	166.0					X																	134987483		2203	4300	6503	SO:0001587	stop_gained	55511							g.chrX:134987483C>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.386C>G	X.37:g.134987483C>G	ENSP00000359743:p.Ser129*					SAGE1_uc010nry.1_Nonsense_Mutation_p.S98*|SAGE1_uc011mvv.1_Nonsense_Mutation_p.S129*	p.S129*	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			5	553	+	Acute lymphoblastic leukemia(192;0.000127)		129					Q5JNW0	Nonsense_Mutation	SNP	ENST00000370709.3	37	c.386C>G	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	9.793	1.178385	0.21787	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	.	.	.	1.32	-0.759	0.11045	.	0.558099	0.16352	U	0.218173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	2.4934	0.04615	0.0:0.4403:0.3192:0.2405	.	.	.	.	X	129	.	ENSP00000323191:S129X	S	+	2	0	SAGE1	134815149	0.445000	0.25657	0.010000	0.14722	0.003000	0.03518	-0.018000	0.12568	-0.356000	0.08187	-0.756000	0.03474	TCA		PASS	0.463	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		71	29	71	29	---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248458341	248458342	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:248458341_248458342delGG	ENST00000317996.1	-	1	538_539	c.539_540delCC	c.(538-540)cccfs	p.P180fs		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P180P(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GCACCAACACGGGGGCCTCGCA	0.559																																						uc010pzj.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(538-540)CCCfs		olfactory receptor, family 2, subfamily T,																																				SO:0001589	frameshift_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458341_248458342delGG	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.539_540delCC	1.37:g.248458343_248458344delGG	ENSP00000324583:p.Pro180fs						p.P180fs	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	539_540	-	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)		180			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000317996.1	37	c.539_540delCC	CCDS31110.1																																																																																					0.559	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		93	53	93	53	---	---	---	---
OR2T11	127077	broad.mit.edu	37	1	248790367	248790367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr1:248790367delG	ENST00000330803.2	-	1	124	c.63delC	c.(61-63)gccfs	p.A21fs		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ATACAATCCCGGCAGCCTCAC	0.532																																						uc001ier.1																			0				lung(1)	1						c.(61-63)GCCfs		olfactory receptor, family 2, subfamily T,							47.0	57.0	54.0					1																	248790367		2048	4238	6286	SO:0001589	frameshift_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790367delG	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.63delC	1.37:g.248790367delG	ENSP00000328934:p.Ala21fs						p.A21fs	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	63	-	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)		21			Extracellular (Potential).		Q6IEY6	Frame_Shift_Del	DEL	ENST00000330803.2	37	c.63delC	CCDS31122.1																																																																																					0.532	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		83	55	83	55	---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57571186	57571187	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr11:57571186_57571187delAT	ENST00000399050.4	+	8	2050_2051	c.1514_1515delAT	c.(1513-1515)catfs	p.H505fs	CTNND1_ENST00000532787.1_Frame_Shift_Del_p.H404fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.H404fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.H451fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.H451fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.H451fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.H404fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.H182fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.H182fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.H451fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.H404fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.H182fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.H451fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.H451fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.H404fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.H404fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.H182fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.H182fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.H404fs|CTNND1_ENST00000524630.1_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.H451fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.H451fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.H505fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.H404fs	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	505					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATCATTCCTCATTCTGGTTGGG	0.495																																						uc001nmc.3																			0				breast(4)|ovary(1)|kidney(1)	6						c.(1513-1515)CATfs		catenin, delta 1 isoform 1ABC																																				SO:0001589	frameshift_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57571186_57571187delAT	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1514_1515delAT	11.37:g.57571186_57571187delAT	ENSP00000382004:p.His505fs					CTNND1_uc001nlh.1_Frame_Shift_Del_p.H505fs|CTNND1_uc001nlu.3_Frame_Shift_Del_p.H404fs|CTNND1_uc001nlt.3_Frame_Shift_Del_p.H404fs|CTNND1_uc001nls.3_Frame_Shift_Del_p.H404fs|CTNND1_uc001nlw.3_Frame_Shift_Del_p.H404fs|CTNND1_uc001nmf.3_Frame_Shift_Del_p.H505fs|CTNND1_uc001nmd.3_Frame_Shift_Del_p.H451fs|CTNND1_uc001nlk.3_Frame_Shift_Del_p.H451fs|CTNND1_uc001nme.3_Frame_Shift_Del_p.H505fs|CTNND1_uc001nll.3_Frame_Shift_Del_p.H451fs|CTNND1_uc001nmg.3_Frame_Shift_Del_p.H451fs|CTNND1_uc001nlj.3_Frame_Shift_Del_p.H451fs|CTNND1_uc001nlr.3_Frame_Shift_Del_p.H451fs|CTNND1_uc001nlp.3_Frame_Shift_Del_p.H451fs|CTNND1_uc001nlx.3_Frame_Shift_Del_p.H182fs|CTNND1_uc001nlz.3_Frame_Shift_Del_p.H182fs|CTNND1_uc009ymn.2_Frame_Shift_Del_p.H182fs|CTNND1_uc001nlm.3_Frame_Shift_Del_p.H505fs|CTNND1_uc001nly.3_Frame_Shift_Del_p.H182fs|CTNND1_uc001nmb.3_Frame_Shift_Del_p.H182fs|CTNND1_uc001nma.3_Frame_Shift_Del_p.H182fs|CTNND1_uc001nmi.3_Frame_Shift_Del_p.H404fs|CTNND1_uc001nmh.3_Frame_Shift_Del_p.H505fs|CTNND1_uc001nlq.3_Frame_Shift_Del_p.H404fs|CTNND1_uc001nln.3_Frame_Shift_Del_p.H505fs|CTNND1_uc001nli.3_Frame_Shift_Del_p.H505fs|CTNND1_uc001nlo.3_Frame_Shift_Del_p.H404fs|CTNND1_uc001nlv.3_Frame_Shift_Del_p.H404fs	p.H505fs	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			8	2085_2086	+		all_epithelial(135;0.155)	505			ARM 4.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Frame_Shift_Del	DEL	ENST00000399050.4	37	c.1514_1515delAT	CCDS44604.1																																																																																					0.495	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		41	24	41	24	---	---	---	---
IRS2	8660	broad.mit.edu	37	13	110435612	110435613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr13:110435612_110435613insG	ENST00000375856.3	-	1	3302_3303	c.2788_2789insC	c.(2788-2790)cgcfs	p.R930fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	930					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.R930fs*61(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CGGCGACAGGCGGGCCCCGGGC	0.738																																					Melanoma(100;613 2409 40847)	uc001vqv.2																			1	Insertion - Frameshift(1)		upper_aerodigestive_tract(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(2788-2790)CGCfs		insulin receptor substrate 2																																				SO:0001589	frameshift_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110435612_110435613insG	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2789dupC	13.37:g.110435615_110435615dupG	ENSP00000365016:p.Arg930fs						p.R930fs	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	3302_3303	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	930					Q96RR2|Q9BZG0|Q9Y6I5	Frame_Shift_Ins	INS	ENST00000375856.3	37	c.2788_2789insC	CCDS9510.1																																																																																					0.738	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		4	2	4	2	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579470	7579470	+	Frame_Shift_Del	DEL	C	C	-	rs587782423		TCGA-60-2713-01A-01D-1522-08	TCGA-60-2713-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79eb7bba-f0d8-462c-add7-20a2fb7843e1	9eba89e5-0eb9-413a-ae43-30a1d30a7eeb	g.chr17:7579470delC	ENST00000269305.4	-	4	406	c.217delG	c.(217-219)gtgfs	p.V73fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.V73fs	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	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)	GCAGGGGCCACGGGGGGAGCA	0.602		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)	uc002gim.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		34	Insertion - Frameshift(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(5)|Deletion - In frame(1)|Complex - frameshift(1)	p.0?(7)|p.V73L(3)|p.G59fs*23(3)|p.V73fs*50(2)|p.V73fs*76(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.V73E(1)	upper_aerodigestive_tract(6)|lung(5)|bone(4)|central_nervous_system(3)|biliary_tract(3)|urinary_tract(3)|breast(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CI920954	TP53	I		c.(217-219)GTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							81.0	89.0	86.0					17																	7579470		2202	4297	6499	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579470delC	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.217delG	17.37:g.7579470delC	ENSP00000269305:p.Val73fs	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_uc002gig.1_Frame_Shift_Del_p.V73fs|TP53_uc002gih.2_Frame_Shift_Del_p.V73fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.V73fs|TP53_uc010cni.1_Frame_Shift_Del_p.V73fs|TP53_uc002gij.2_Frame_Shift_Del_p.V73fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.V34fs|TP53_uc010cnk.1_Frame_Shift_Del_p.V88fs	p.V73fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	411	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	73		V -> M (in sporadic cancers; somatic mutation).|V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with WWOX.|Interaction with HRMT1L2.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.217delG	CCDS11118.1																																																																																					0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		68	55	68	55	---	---	---	---
