#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC25A33	84275	broad.mit.edu	37	1	9640262	9640262	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:9640262G>A	ENST00000302692.6	+	6	943	c.733G>A	c.(733-735)Ggc>Agc	p.G245S		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	245					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTTCTAAGGGCTGTGCCTC	0.428																																							uc001apw.2		NA																	0					0						c.(733-735)GGC>AGC		mitochondrial carrier protein MGC4399							67.0	64.0	65.0					1																	9640262		2203	4300	6503	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9640262G>A	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.733G>A	1.37:g.9640262G>A	ENSP00000306328:p.Gly245Ser					SLC25A33_uc001apx.2_Missense_Mutation_p.G178S	p.G245S	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	6	956	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	245			Solcar 3.|Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000302692.6	37	c.733G>A	CCDS103.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906105	0.33628	.	.	ENSG00000171612	ENST00000302692	T	0.78707	-1.2	5.66	5.66	0.87406	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	N	0.16233	0.39	0.54753	D	0.999987	B	0.19445	0.036	B	0.25987	0.065	T	0.59841	-0.7378	10	0.35671	T	0.21	-20.7045	12.4382	0.55610	0.0762:0.0:0.9238:0.0	.	245	Q9BSK2	S2533_HUMAN	S	245	ENSP00000306328:G245S	ENSP00000306328:G245S	G	+	1	0	SLC25A33	9562849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.821000	0.75272	2.832000	0.97577	0.655000	0.94253	GGC		0.428	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		32	11	0	0	0	0.004289	0	32	11				
PAX7	5081	broad.mit.edu	37	1	19062154	19062154	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:19062154C>T	ENST00000375375.3	+	8	1782	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	PAX7_ENST00000420770.2_Missense_Mutation_p.A395V|PAX7_ENST00000400661.3_Missense_Mutation_p.A393V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	395					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)		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)		AACCCCAGTGCGGTGCCCCCG	0.652			T	FOXO1A	alveolar rhabdomyosarcoma																																		uc001bay.2		NA		Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(1183-1185)GCG>GTG		paired box 7 isoform 1							56.0	56.0	56.0					1																	19062154		2203	4300	6503	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19062154C>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.1184C>T	1.37:g.19062154C>T	ENSP00000364524:p.Ala395Val					PAX7_uc001baz.2_Missense_Mutation_p.A393V|PAX7_uc010oct.1_Missense_Mutation_p.A395V	p.A395V	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)	8	1782	+		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)	395					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1184C>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432908	0.43224	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95035	-3.58;-3.56;-3.59	4.44	3.43	0.39272	.	0.726417	0.12617	N	0.453344	D	0.90954	0.7156	L	0.48642	1.525	0.35487	D	0.798663	P;P;P	0.49635	0.873;0.926;0.9	B;B;B	0.40534	0.256;0.332;0.288	D	0.91514	0.5229	10	0.42905	T	0.14	.	10.7223	0.46046	0.0:0.587:0.413:0.0	.	395;393;395	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	395;395;393	ENSP00000364524:A395V;ENSP00000403389:A395V;ENSP00000383502:A393V	ENSP00000364524:A395V	A	+	2	0	PAX7	18934741	0.998000	0.40836	0.904000	0.35570	0.883000	0.51084	3.260000	0.51523	2.179000	0.69175	0.561000	0.74099	GCG		0.652	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		18	43	0	0	0	0.00499	0	18	43				
HSPG2	3339	broad.mit.edu	37	1	22211527	22211527	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:22211527C>A	ENST00000374695.3	-	11	1413	c.1334G>T	c.(1333-1335)gGc>gTc	p.G445V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	445	Ig-like C2-type 1.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGGATGTGGCCCCAGTTGAG	0.652																																							uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(1333-1335)GGC>GTC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						43.0	49.0	47.0					1																	22211527		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22211527C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1334G>T	1.37:g.22211527C>A	ENSP00000363827:p.Gly445Val					HSPG2_uc009vqd.2_Missense_Mutation_p.G445V	p.G445V	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	11	1374	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	445			Ig-like C2-type 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.1334G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085598	0.76642	.	.	ENSG00000142798	ENST00000374695	T	0.66460	-0.21	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37178	N	0.002205	T	0.76147	0.3947	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78175	-0.2306	10	0.72032	D	0.01	.	16.5647	0.84576	0.0:1.0:0.0:0.0	.	445	P98160	PGBM_HUMAN	V	445	ENSP00000363827:G445V	ENSP00000363827:G445V	G	-	2	0	HSPG2	22084114	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.156000	0.58138	2.504000	0.84457	0.561000	0.74099	GGC		0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		13	17	1	0	0.00010058	0.001368	0.000115886	13	17				
C1QB	713	broad.mit.edu	37	1	22986050	22986051	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:22986050_22986051CC>AA	ENST00000314933.6	+	2	233_234	c.101_102CC>AA	c.(100-102)cCC>cAA	p.P34Q	C1QB_ENST00000509305.1_Missense_Mutation_p.P32Q	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	34					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCACCGGGCCCCCAGCCATCC	0.594																																							uc001bgd.2		NA																	0				breast(1)	1						c.(100-102)CCC>CAA		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001583	missense	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22986050_22986051CC>AA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	Exception_encountered	1.37:g.22986050_22986051delinsAA	ENSP00000313967:p.Pro34Gln						p.P34Q	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	233_234	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	34					Q5T959|Q96H17	Missense_Mutation	DNP	ENST00000314933.6	37	c.101_102CC>AA	CCDS228.1																																																																																				0.594	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		6	12	0	0	0	0.004672	0	6	12				
CSMD2	114784	broad.mit.edu	37	1	34006140	34006140	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:34006140G>T	ENST00000373381.4	-	60	9792	c.9616C>A	c.(9616-9618)Ctg>Atg	p.L3206M		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3182	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGAGGCAGCTCTCCGGTC	0.587																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(9184-9186)CTG>ATG		CUB and Sushi multiple domains 2							112.0	93.0	99.0					1																	34006140		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006140G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9616C>A	1.37:g.34006140G>T	ENSP00000362479:p.Leu3206Met					CSMD2_uc001bxm.1_Missense_Mutation_p.L3206M	p.L3062M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			59	9213	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3062			Sushi 23.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9184C>A		.	.	.	.	.	.	.	.	.	.	G	17.35	3.367011	0.61513	.	.	ENSG00000121904	ENST00000373381	T	0.65916	-0.18	5.67	4.76	0.60689	Complement control module (2);Sushi/SCR/CCP (3);	0.291274	0.30003	N	0.010644	T	0.64516	0.2605	L	0.59436	1.845	0.80722	D	1	P;P	0.44816	0.828;0.844	P;P	0.51550	0.673;0.673	T	0.62020	-0.6942	10	0.31617	T	0.26	.	7.7008	0.28621	0.0794:0.0:0.6703:0.2503	.	3062;3206	Q7Z408;E7EUA6	CSMD2_HUMAN;.	M	3206	ENSP00000362479:L3206M	ENSP00000241312:L3062M	L	-	1	2	CSMD2	33778727	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.784000	0.38674	1.410000	0.46936	0.462000	0.41574	CTG		0.587	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		43	49	1	0	2.43468e-25	0.00361	3.91024e-25	43	49				
TRIT1	54802	broad.mit.edu	37	1	40312906	40312906	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:40312906T>G	ENST00000316891.5	-	8	1006	c.992A>C	c.(991-993)aAc>aCc	p.N331T	TRIT1_ENST00000545233.1_Missense_Mutation_p.N85T|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000441669.2_Missense_Mutation_p.N249T|TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000537440.1_Missense_Mutation_p.N27T|TRIT1_ENST00000537223.1_Missense_Mutation_p.N27T	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	331	Interaction with substrate tRNA. {ECO:0000250}.				tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAAAAAACGGTTTTTAACCCA	0.358																																							uc010oiz.1		NA																	0				ovary(1)	1						c.(991-993)AAC>ACC		tRNA isopentenyltransferase 1 precursor							107.0	102.0	104.0					1																	40312906		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40312906T>G	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.992A>C	1.37:g.40312906T>G	ENSP00000321810:p.Asn331Thr					TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.N27T|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.N85T|TRIT1_uc001ceh.3_Missense_Mutation_p.N85T|TRIT1_uc009vvv.2_Intron|TRIT1_uc001cei.3_Missense_Mutation_p.N85T|TRIT1_uc001ceq.2_Missense_Mutation_p.N27T|TRIT1_uc001cek.2_Missense_Mutation_p.N27T|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.N249T|TRIT1_uc001cen.2_Missense_Mutation_p.N85T|TRIT1_uc001ceo.2_Missense_Mutation_p.N85T|TRIT1_uc001cep.2_Missense_Mutation_p.N85T	p.N331T	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		8	1006	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	331			Interaction with substrate tRNA (By similarity).		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.992A>C	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.976873	0.74360	.	.	ENSG00000043514	ENST00000372825;ENST00000441669;ENST00000316891;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223	T;T	0.45668	0.89;0.89	6.03	4.91	0.64330	.	0.038072	0.85682	D	0.000000	T	0.63954	0.2555	M	0.84433	2.695	0.80722	D	1	P;D;D	0.76494	0.645;0.996;0.999	P;D;D	0.64144	0.542;0.921;0.922	T	0.69247	-0.5195	10	0.62326	D	0.03	-20.7499	11.6123	0.51066	0.0:0.0686:0.0:0.9314	.	331;249;27	Q9H3H1;Q9H3H1-5;Q3T7B5	MOD5_HUMAN;.;.	T	249;243;331;224;85;27;27	ENSP00000321810:N331T;ENSP00000439596:N85T	ENSP00000321810:N331T	N	-	2	0	TRIT1	40085493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.852000	0.69488	2.308000	0.77769	0.533000	0.62120	AAC		0.358	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		22	52	0	0	0	0.003954	0	22	52				
RLF	6018	broad.mit.edu	37	1	40701680	40701680	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:40701680C>T	ENST00000372771.4	+	8	1333	c.1306C>T	c.(1306-1308)Cca>Tca	p.P436S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	436					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATATTTGCAACCAGATCAAAA	0.373																																							uc001cfc.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1306-1308)CCA>TCA		rearranged L-myc fusion							85.0	95.0	91.0					1																	40701680		2201	4299	6500	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701680C>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1306C>T	1.37:g.40701680C>T	ENSP00000361857:p.Pro436Ser					RLF_uc001cfd.3_Missense_Mutation_p.P127S	p.P436S	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1337	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	436					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.1306C>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723287	0.68959	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.41065	1.01	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	T	0.65878	-0.6061	10	0.87932	D	0	-11.6926	20.6593	0.99626	0.0:1.0:0.0:0.0	.	129;436	F5H2M5;Q13129	.;RLF_HUMAN	S	436;129	ENSP00000361857:P436S	ENSP00000361857:P436S	P	+	1	0	RLF	40474267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CCA		0.373	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		89	82	0	0	0	0.00361	0	89	82				
DOCK7	85440	broad.mit.edu	37	1	62995065	62995065	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:62995065T>A	ENST00000340370.5	-	29	3588	c.3571A>T	c.(3571-3573)Agt>Tgt	p.S1191C	DOCK7_ENST00000251157.5_Missense_Mutation_p.S1222C	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1222					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAGTCGTGACTGGAGAGTAAA	0.413																																							uc001daq.2		NA																	0				ovary(2)	2						c.(3664-3666)AGT>TGT		dedicator of cytokinesis 7							114.0	106.0	109.0					1																	62995065		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62995065T>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3571A>T	1.37:g.62995065T>A	ENSP00000340742:p.Ser1191Cys					DOCK7_uc001dan.2_Missense_Mutation_p.S1083C|DOCK7_uc001dao.2_Missense_Mutation_p.S1083C|DOCK7_uc001dap.2_Missense_Mutation_p.S1191C|DOCK7_uc001dam.2_Missense_Mutation_p.S402C|DOCK7_uc010oov.1_Missense_Mutation_p.S50C	p.S1222C	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			30	3698	-			1222					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3664A>T	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.30|15.30	2.793471|2.793471	0.50102|0.50102	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.28454	.|1.61;1.61	5.98|5.98	4.86|4.86	0.63082|0.63082	.|.	.|0.041280	.|0.85682	.|D	.|0.000000	T|T	0.46776|0.46776	0.1410|0.1410	L|L	0.58428|0.58428	1.81|1.81	0.54753|0.54753	D|D	0.999988|0.999988	.|P;B;P;P;P;B	.|0.51933	.|0.836;0.006;0.949;0.904;0.945;0.003	.|P;B;P;P;P;B	.|0.60682	.|0.548;0.036;0.745;0.745;0.878;0.045	T|T	0.36648|0.36648	-0.9739|-0.9739	5|10	.|0.46703	.|T	.|0.11	.|.	11.7963|11.7963	0.52102|0.52102	0.0:0.0682:0.0:0.9318|0.0:0.0682:0.0:0.9318	.|.	.|1222;1222;1191;1191;1191;1222	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	L|C	393|1222;1222;1191;50	.|ENSP00000251157:S1222C;ENSP00000340742:S1191C	.|ENSP00000251157:S1222C	Q|S	-|-	2|1	0|0	DOCK7|DOCK7	62767653|62767653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	6.113000|6.113000	0.71553|0.71553	1.092000|1.092000	0.41356|0.41356	0.482000|0.482000	0.46254|0.46254	CAG|AGT		0.413	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		27	26	0	0	0	0.005443	0	27	26				
WDR78	79819	broad.mit.edu	37	1	67327898	67327898	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:67327898G>A	ENST00000371026.3	-	7	1083	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	WDR78_ENST00000371023.3_Missense_Mutation_p.S343L|WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000431318.1_Missense_Mutation_p.S89L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	343					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTACTACTTGACTCAACCAC	0.338																																							uc001dcx.2		NA																	0				ovary(2)	2						c.(1027-1029)TCA>TTA		WD repeat domain 78 isoform 1							109.0	108.0	109.0					1																	67327898		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67327898G>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1028C>T	1.37:g.67327898G>A	ENSP00000360065:p.Ser343Leu					WDR78_uc001dcy.2_Missense_Mutation_p.S343L|WDR78_uc009waw.2_Missense_Mutation_p.S89L|WDR78_uc009wax.2_RNA	p.S343L	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			7	1084	-			343					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1028C>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441010	0.43326	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	T;T;T;T;T	0.69040	0.31;-0.37;-0.3;2.13;1.52	5.16	4.18	0.49190	.	0.899723	0.09118	N	0.846091	T	0.47820	0.1466	L	0.56769	1.78	0.09310	N	1	B;B;B	0.28439	0.088;0.212;0.06	B;B;B	0.20577	0.03;0.03;0.013	T	0.44452	-0.9327	10	0.46703	T	0.11	-0.0791	13.1737	0.59613	0.0:0.1617:0.8383:0.0	.	89;343;343	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	L	343;89;109;343;30	ENSP00000360065:S343L;ENSP00000393182:S89L;ENSP00000433682:S109L;ENSP00000360062:S343L;ENSP00000433037:S30L	ENSP00000360062:S343L	S	-	2	0	WDR78	67100486	0.003000	0.15002	0.006000	0.13384	0.008000	0.06430	1.169000	0.31871	2.567000	0.86603	0.591000	0.81541	TCA		0.338	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		7	72	0	0	0	0.00308	0	7	72				
LRRC7	57554	broad.mit.edu	37	1	70397207	70397207	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:70397207C>A	ENST00000035383.5	+	6	581	c.551C>A	c.(550-552)gCc>gAc	p.A184D	LRRC7_ENST00000310961.5_Missense_Mutation_p.A189D|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	184						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CACAAACTGGCCCAGTTGGAA	0.403																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(550-552)GCC>GAC		leucine rich repeat containing 7							93.0	87.0	89.0					1																	70397207		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70397207C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.551C>A	1.37:g.70397207C>A	ENSP00000035383:p.Ala184Asp					LRRC7_uc009wbg.2_5'UTR	p.A184D	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			6	581	+			184					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.551C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746061	0.49151	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.09538	2.97;2.97	5.92	4.03	0.46877	.	0.125660	0.56097	D	0.000028	T	0.05868	0.0153	L	0.38733	1.17	0.80722	D	1	P	0.34699	0.464	B	0.42692	0.395	T	0.33727	-0.9857	10	0.27082	T	0.32	.	13.2029	0.59778	0.0:0.6943:0.3057:0.0	.	184	Q96NW7	LRRC7_HUMAN	D	189;184;7	ENSP00000309245:A189D;ENSP00000035383:A184D	ENSP00000035383:A184D	A	+	2	0	LRRC7	70169795	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.911000	0.28584	0.812000	0.34326	-0.182000	0.12963	GCC		0.403	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		13	16	1	0	6.72482e-11	0.003163	9.23357e-11	13	16				
LRRC7	57554	broad.mit.edu	37	1	70504740	70504740	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:70504740T>A	ENST00000035383.5	+	19	3149	c.3119T>A	c.(3118-3120)gTg>gAg	p.V1040E	LRRC7_ENST00000310961.5_Missense_Mutation_p.V1045E|LRRC7_ENST00000415775.2_Missense_Mutation_p.V324E	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1040						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAAGGATCAGTGGAAGTGAAA	0.443																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3118-3120)GTG>GAG		leucine rich repeat containing 7							57.0	62.0	60.0					1																	70504740		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504740T>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3119T>A	1.37:g.70504740T>A	ENSP00000035383:p.Val1040Glu					LRRC7_uc009wbg.2_Missense_Mutation_p.V324E|LRRC7_uc001deq.2_Missense_Mutation_p.V281E	p.V1040E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3149	+			1040					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3119T>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	5.358	0.251338	0.10130	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37915	1.17;1.25;2.34	5.63	5.63	0.86233	.	0.518457	0.19714	N	0.107748	T	0.21307	0.0513	L	0.47716	1.5	0.46874	D	0.999238	B;P;P	0.49961	0.163;0.763;0.93	B;B;B	0.41571	0.088;0.288;0.36	T	0.02301	-1.1180	10	0.30854	T	0.27	.	15.0111	0.71550	0.0:0.0:0.0:1.0	.	324;1040;1040	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	E	1045;1040;324;863	ENSP00000309245:V1045E;ENSP00000035383:V1040E;ENSP00000394867:V324E	ENSP00000035383:V1040E	V	+	2	0	LRRC7	70277328	1.000000	0.71417	0.988000	0.46212	0.018000	0.09664	6.717000	0.74707	2.142000	0.66516	0.460000	0.39030	GTG		0.443	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		30	31	0	0	0	0.002096	0	30	31				
LRRC7	57554	broad.mit.edu	37	1	70541966	70541966	+	Silent	SNP	T	T	C	rs530563089		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:70541966T>C	ENST00000035383.5	+	22	4353	c.4323T>C	c.(4321-4323)gaT>gaC	p.D1441D	LRRC7_ENST00000310961.5_Silent_p.D1399D|LRRC7_ENST00000415775.2_Silent_p.D725D	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1441						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAGTATGGATGGATATCCAG	0.458													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18943	0.0		0.0	False		,,,				2504	0.0						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4321-4323)GAT>GAC		leucine rich repeat containing 7							65.0	66.0	66.0					1																	70541966		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541966T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4323T>C	1.37:g.70541966T>C						LRRC7_uc009wbg.2_Silent_p.D725D|LRRC7_uc001deq.2_Silent_p.D635D	p.D1441D	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			22	4353	+			1441					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.4323T>C	CCDS645.1																																																																																				0.458	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		12	70	0	0	0	0.000978	0	12	70				
LRRC8D	55144	broad.mit.edu	37	1	90398902	90398902	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:90398902G>C	ENST00000337338.5	+	3	682	c.275G>C	c.(274-276)gGg>gCg	p.G92A	LRRC8D_ENST00000394593.3_Missense_Mutation_p.G92A	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	92					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GACCAAGATGGGCGGACAACA	0.498																																							uc001dnm.2		NA																	0				ovary(2)	2						c.(274-276)GGG>GCG		leucine rich repeat containing 8 family, member							105.0	92.0	96.0					1																	90398902		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90398902G>C	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.275G>C	1.37:g.90398902G>C	ENSP00000338887:p.Gly92Ala					LRRC8D_uc001dnn.2_Missense_Mutation_p.G92A	p.G92A	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	700	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	92					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.275G>C	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.463437	0.01062	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000532201;ENST00000414841;ENST00000527156;ENST00000441269	T;T;T	0.40225	1.61;1.61;1.04	6.07	4.2	0.49525	.	0.314836	0.25083	N	0.033271	T	0.10508	0.0257	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16129	-1.0413	9	.	.	.	.	9.4306	0.38608	0.14:0.1481:0.7119:0.0	.	92	Q7L1W4	LRC8D_HUMAN	A	92	ENSP00000338887:G92A;ENSP00000378093:G92A;ENSP00000405784:G92A	.	G	+	2	0	LRRC8D	90171490	0.031000	0.19500	0.177000	0.23020	0.093000	0.18481	1.662000	0.37418	1.578000	0.49821	0.655000	0.94253	GGG		0.498	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		4	39	0	0	0	0.000248	0	4	39				
EPS8L3	79574	broad.mit.edu	37	1	110300959	110300959	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:110300959G>T	ENST00000361965.4	-	8	802	c.696C>A	c.(694-696)ccC>ccA	p.P232P	EPS8L3_ENST00000369805.3_Silent_p.P233P|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Silent_p.P232P|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	232	Pro-rich.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGGGTCCTCGGGGGAAGAGG	0.607																																							uc001dyr.1		NA																	0				ovary(2)|skin(1)	3						c.(694-696)CCC>CCA		epidermal growth factor receptor pathway							157.0	166.0	163.0					1																	110300959		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110300959G>T	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.696C>A	1.37:g.110300959G>T						EPS8L3_uc001dys.1_Silent_p.P232P|EPS8L3_uc001dyq.1_Silent_p.P233P|EPS8L3_uc009wfm.1_Silent_p.P199P|EPS8L3_uc009wfn.1_Silent_p.P207P|EPS8L3_uc009wfo.1_Silent_p.P179P	p.P232P	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	8	841	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	232			Pro-rich.		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.696C>A	CCDS814.1																																																																																				0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		42	91	1	0	1.48646e-12	0.002522	2.10648e-12	42	91				
KPRP	448834	broad.mit.edu	37	1	152733006	152733006	+	Silent	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:152733006T>A	ENST00000606109.1	+	1	970	c.942T>A	c.(940-942)atT>atA	p.I314I	KPRP_ENST00000368773.1_Silent_p.I314I			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	314	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGCCCCATTTCAAGCTGCT	0.587																																							uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(940-942)ATT>ATA		keratinocyte proline-rich protein							48.0	47.0	47.0					1																	152733006		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152733006T>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.942T>A	1.37:g.152733006T>A							p.I314I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1000	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		314			Pro-rich.			Silent	SNP	ENST00000606109.1	37	c.942T>A	CCDS30862.1																																																																																				0.587	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		70	44	0	0	0	0.00361	0	70	44				
SPRR2G	6706	broad.mit.edu	37	1	153122499	153122499	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:153122499G>T	ENST00000368748.4	-	2	126	c.88C>A	c.(88-90)Ccg>Acg	p.P30T		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	30	3 X 9 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCACTTCGGGGGTGGACAT	0.607																																							uc009wod.1		NA																	0					0						c.(88-90)CCG>ACG		small proline-rich protein 2G							140.0	108.0	119.0					1																	153122499		2203	4300	6503	SO:0001583	missense	6706				keratinization	cornified envelope|cytoplasm		g.chr1:153122499G>T	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.88C>A	1.37:g.153122499G>T	ENSP00000357737:p.Pro30Thr						p.P30T	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	209	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		30			3 X 9 AA approximate tandem repeats.|2.			Missense_Mutation	SNP	ENST00000368748.4	37	c.88C>A	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	G	8.658	0.899753	0.17686	.	.	ENSG00000159516	ENST00000368748	T	0.53206	0.63	5.04	4.13	0.48395	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.09310	N	1	D	0.55385	0.971	P	0.52957	0.714	T	0.25641	-1.0126	8	0.87932	D	0	2.9564	9.3467	0.38113	0.0966:0.0:0.9034:0.0	.	30	Q9BYE4	SPR2G_HUMAN	T	30	ENSP00000357737:P30T	ENSP00000357737:P30T	P	-	1	0	SPRR2G	151389123	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.109000	0.10840	1.491000	0.48482	0.609000	0.83330	CCG		0.607	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			77	86	1	0	5.04879e-28	0.00361	8.20815e-28	77	86				
TDRD10	126668	broad.mit.edu	37	1	154516441	154516441	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:154516441G>T	ENST00000368480.3	+	9	591	c.506G>T	c.(505-507)gGg>gTg	p.G169V	TDRD10_ENST00000368482.4_Missense_Mutation_p.G169V|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	169							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCGCAGAGGGTCCTTCCTG	0.617																																							uc009wow.2		NA																	0				ovary(1)	1						c.(505-507)GGG>GTG		tudor domain containing 10 isoform a							156.0	142.0	147.0					1																	154516441		2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154516441G>T	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.506G>T	1.37:g.154516441G>T	ENSP00000357465:p.Gly169Val					TDRD10_uc001ffd.2_Missense_Mutation_p.G169V|TDRD10_uc001ffe.2_Missense_Mutation_p.G90V	p.G169V	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		9	1344	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		169					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.506G>T	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514558	0.44763	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.27256	1.7;1.68	4.57	2.57	0.30868	.	0.269961	0.25256	N	0.031984	T	0.20659	0.0497	L	0.29908	0.895	0.09310	N	0.999998	D;D	0.76494	0.999;0.999	D;D	0.72982	0.953;0.979	T	0.06716	-1.0811	10	0.72032	D	0.01	-17.2993	10.5189	0.44907	0.0:0.3844:0.6156:0.0	.	169;169	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	V	169	ENSP00000357467:G169V;ENSP00000357465:G169V	ENSP00000357465:G169V	G	+	2	0	TDRD10	152783065	0.267000	0.24122	0.001000	0.08648	0.054000	0.15201	2.984000	0.49353	0.482000	0.27582	0.555000	0.69702	GGG		0.617	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		106	194	1	0	1.06508e-68	0.00361	1.82094e-68	106	194				
VHLL	391104	broad.mit.edu	37	1	156268904	156268904	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:156268904C>T	ENST00000339922.3	-	1	524	c.77G>A	c.(76-78)tGc>tAc	p.C26Y		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	26										endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CTCTTCCTGGCAGTACTCTTC	0.632																																							uc001fok.2		NA																	0				ovary(1)	1						c.(76-78)TGC>TAC		von Hippel-Lindau tumor suppressor-like							46.0	49.0	48.0					1																	156268904		2203	4300	6503	SO:0001583	missense	391104				protein ubiquitination	nucleus		g.chr1:156268904C>T			1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.77G>A	1.37:g.156268904C>T	ENSP00000464258:p.Cys26Tyr						p.C26Y	NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN			1	525	-	Hepatocellular(266;0.158)		26					A1L4M4	Missense_Mutation	SNP	ENST00000339922.3	37	c.77G>A																																																																																					0.632	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		47	87	0	0	0	0.00361	0	47	87				
USH2A	7399	broad.mit.edu	37	1	215822056	215822056	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:215822056G>T	ENST00000307340.3	-	66	14782	c.14396C>A	c.(14395-14397)aCt>aAt	p.T4799N	USH2A_ENST00000366943.2_Missense_Mutation_p.T4799N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4799	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAGTAGTTAGTGAAGGCTTG	0.527										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14395-14397)ACT>AAT		usherin isoform B							85.0	77.0	80.0					1																	215822056		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215822056G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14396C>A	1.37:g.215822056G>T	ENSP00000305941:p.Thr4799Asn	HNSCC(13;0.011)					p.T4799N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14783	-			4799			Fibronectin type-III 33.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14396C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985128	0.74474	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61158	0.13;0.13	5.52	4.61	0.57282	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.151131	0.30193	N	0.010197	T	0.68550	0.3013	M	0.91612	3.225	0.49582	D	0.9998	B	0.29508	0.246	B	0.32211	0.142	T	0.73471	-0.3972	10	0.87932	D	0	.	15.822	0.78662	0.0:0.0:0.8632:0.1368	.	4799	O75445	USH2A_HUMAN	N	4799	ENSP00000305941:T4799N;ENSP00000355910:T4799N	ENSP00000305941:T4799N	T	-	2	0	USH2A	213888679	1.000000	0.71417	0.826000	0.32828	0.785000	0.44390	5.447000	0.66606	1.316000	0.45131	0.655000	0.94253	ACT		0.527	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	40	1	0	0.00136819	0.001368	0.0015561	12	40				
RYR2	6262	broad.mit.edu	37	1	237774190	237774190	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:237774190G>T	ENST00000366574.2	+	36	5129	c.4812G>T	c.(4810-4812)ttG>ttT	p.L1604F	RYR2_ENST00000542537.1_Missense_Mutation_p.L1588F|RYR2_ENST00000360064.6_Missense_Mutation_p.L1602F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1604	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCAGTTTTTGAAGGTAGATG	0.537																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4810-4812)TTG>TTT		cardiac muscle ryanodine receptor							63.0	64.0	64.0					1																	237774190		1982	4151	6133	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774190G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4812G>T	1.37:g.237774190G>T	ENSP00000355533:p.Leu1604Phe						p.L1604F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	4932	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1604			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4812G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552049	0.65311	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97553	-4.43;-4.4;-4.42	5.14	4.22	0.49857	.	0.299664	0.19515	N	0.112411	D	0.98220	0.9411	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.98501	1.0614	10	0.87932	D	0	.	11.1953	0.48709	0.0713:0.1285:0.8002:0.0	.	1604	Q92736	RYR2_HUMAN	F	1604;1602;1588	ENSP00000355533:L1604F;ENSP00000353174:L1602F;ENSP00000443798:L1588F	ENSP00000353174:L1602F	L	+	3	2	RYR2	235840813	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	0.793000	0.26944	1.359000	0.45940	0.655000	0.94253	TTG		0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	20	1	0	3.59834e-05	0.001168	4.31475e-05	6	20				
ZP4	57829	broad.mit.edu	37	1	238053218	238053218	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:238053218G>T	ENST00000366570.4	-	3	507	c.349C>A	c.(349-351)Cac>Aac	p.H117N	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	117					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCACCTTGTGTTCAGCCGCG	0.582																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	0				ovary(2)|skin(1)	3						c.(349-351)CAC>AAC		zona pellucida glycoprotein 4 preproprotein							210.0	217.0	215.0					1																	238053218		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053218G>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.349C>A	1.37:g.238053218G>T	ENSP00000355529:p.His117Asn					LOC100130331_uc010pyc.1_Intron	p.H117N	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	349	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	117			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.349C>A	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	2.285	-0.363789	0.05103	.	.	ENSG00000116996	ENST00000366570	T	0.74421	-0.84	4.89	0.127	0.14727	.	0.773311	0.11981	N	0.510799	T	0.59715	0.2214	L	0.47716	1.5	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.39820	-0.9595	10	0.13853	T	0.58	-1.1754	4.7256	0.12939	0.1889:0.0:0.4996:0.3115	.	117	Q12836	ZP4_HUMAN	N	117	ENSP00000355529:H117N	ENSP00000355529:H117N	H	-	1	0	ZP4	236119841	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.099000	0.15210	0.110000	0.17919	0.655000	0.94253	CAC		0.582	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			169	100	1	0	7.29064e-110	0.00361	1.25456e-109	169	100				
OR2AK2	391191	broad.mit.edu	37	1	248128815	248128815	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:248128815T>G	ENST00000366480.3	+	1	281	c.182T>G	c.(181-183)aTc>aGc	p.I61S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATCATGCTGATCCACCTCATT	0.468																																					Melanoma(45;390 1181 23848 28461 41504)	Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	0				ovary(1)|breast(1)	2						c.(181-183)ATC>AGC		olfactory receptor, family 2, subfamily AK,							215.0	200.0	205.0					1																	248128815		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128815T>G	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.182T>G	1.37:g.248128815T>G	ENSP00000355436:p.Ile61Ser					OR2L13_uc001ids.2_Intron	p.I61S	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	182	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		61			Helical; Name=1; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.182T>G	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.106942	0.37145	.	.	ENSG00000187080	ENST00000366480	T	0.00642	6.02	3.15	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01870	0.0059	M	0.93241	3.395	0.09310	N	1	B	0.33022	0.394	B	0.30316	0.114	T	0.11690	-1.0577	9	0.87932	D	0	.	10.7706	0.46321	0.0:0.0:0.0:1.0	.	61	Q8NG84	O2AK2_HUMAN	S	61	ENSP00000355436:I61S	ENSP00000355436:I61S	I	+	2	0	OR2AK2	246195438	0.023000	0.18921	0.001000	0.08648	0.093000	0.18481	2.409000	0.44583	1.421000	0.47157	0.374000	0.22700	ATC		0.468	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		78	127	0	0	0	0.00361	0	78	127				
OR2L2	26246	broad.mit.edu	37	1	248201900	248201900	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:248201900G>A	ENST00000366479.2	+	1	427	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGTTGCAGAAGGGCTGCTCCT	0.423																																							uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(331-333)GGG>AGG		olfactory receptor, family 2, subfamily L,							134.0	124.0	128.0					1																	248201900		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201900G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.331G>A	1.37:g.248201900G>A	ENSP00000355435:p.Gly111Arg					OR2L13_uc001ids.2_Intron	p.G111R	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	427	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		111			Helical; Name=3; (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.331G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	11.68	1.711651	0.30322	.	.	ENSG00000203663	ENST00000366479	T	0.01369	4.97	1.9	-0.618	0.11576	GPCR, rhodopsin-like superfamily (1);	0.621539	0.12229	U	0.487651	T	0.01454	0.0047	L	0.43152	1.355	0.09310	N	1	B	0.18013	0.025	B	0.26094	0.066	T	0.47983	-0.9074	10	0.62326	D	0.03	.	1.1122	0.01707	0.1456:0.1542:0.3336:0.3666	.	111	Q8NH16	OR2L2_HUMAN	R	111	ENSP00000355435:G111R	ENSP00000355435:G111R	G	+	1	0	OR2L2	246268523	0.000000	0.05858	0.015000	0.15790	0.069000	0.16628	-1.211000	0.02997	0.035000	0.15519	0.194000	0.17425	GGG		0.423	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		73	45	0	0	0	0.00361	0	73	45				
OR2T33	391195	broad.mit.edu	37	1	248436905	248436905	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:248436905A>T	ENST00000318021.2	-	1	233	c.212T>A	c.(211-213)cTg>cAg	p.L71Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			GGTGGAAACCAGCATCATGTC	0.552																																							uc010pzi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(211-213)CTG>CAG		olfactory receptor, family 2, subfamily T,							91.0	84.0	86.0					1																	248436905		2193	4292	6485	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436905A>T		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.212T>A	1.37:g.248436905A>T	ENSP00000324687:p.Leu71Gln						p.L71Q	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	212	-	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)		71			Helical; Name=2; (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.212T>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	12.93	2.085220	0.36758	.	.	ENSG00000177212	ENST00000318021	T	0.00421	7.46	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28322	U	0.015762	T	0.00906	0.0030	M	0.79693	2.465	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.41716	-0.9493	10	0.87932	D	0	.	4.9531	0.14025	0.6431:0.1804:0.0:0.1765	.	71	Q8NG76	O2T33_HUMAN	Q	71	ENSP00000324687:L71Q	ENSP00000324687:L71Q	L	-	2	0	OR2T33	246503528	0.000000	0.05858	0.053000	0.19242	0.895000	0.52256	-0.994000	0.03716	1.178000	0.42870	0.404000	0.27445	CTG		0.552	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		7	115	0	0	0	0.008291	0	7	115				
FAM171A1	221061	broad.mit.edu	37	10	15326031	15326031	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:15326031G>A	ENST00000378116.4	-	2	177	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	57						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTGGTTGGTGAAGATCTCGA	0.552																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(169-171)TTC>TTT		hypothetical protein LOC221061 precursor							81.0	72.0	75.0					10																	15326031		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15326031G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.171C>T	10.37:g.15326031G>A							p.F57F	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			2	178	-			57			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.171C>T	CCDS31154.1																																																																																				0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		28	50	0	0	0	0.00632	0	28	50				
ITGA8	8516	broad.mit.edu	37	10	15655727	15655727	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:15655727C>T	ENST00000378076.3	-	15	1838	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	495					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)			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						TCATTGGGTGCAGCAGAAGCT	0.463																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(1483-1485)CTG>CTA		integrin, alpha 8 precursor							118.0	121.0	120.0					10																	15655727		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655727C>T	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.1485G>A	10.37:g.15655727C>T						ITGA8_uc010qcb.1_Silent_p.L480L	p.L495L	NM_003638	NP_003629	P53708	ITA8_HUMAN			15	1485	-			495			Extracellular (Potential).|FG-GAP 7.		B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1485G>A	CCDS31155.1																																																																																				0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		58	67	0	0	0	0.00361	0	58	67				
SLC39A12	221074	broad.mit.edu	37	10	18292274	18292274	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:18292274C>T	ENST00000377369.2	+	12	2207	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S644F|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S511F|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S608F	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	645					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTATATTTATCCTTGGTTGAA	0.368																																							uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(1933-1935)TCC>TTC		solute carrier family 39 (zinc transporter),							134.0	120.0	125.0					10																	18292274		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18292274C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1934C>T	10.37:g.18292274C>T	ENSP00000366586:p.Ser645Phe					SLC39A12_uc001ipn.2_Missense_Mutation_p.S608F|SLC39A12_uc001ipp.2_Missense_Mutation_p.S644F|SLC39A12_uc010qck.1_Missense_Mutation_p.S511F|uc001ipq.1_RNA	p.S645F	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			12	2207	+			645			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1934C>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013382	0.54468	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	M	0.78285	2.405	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.985;1.0	D;D;D	0.91635	0.999;0.944;0.999	T	0.74544	-0.3630	10	0.87932	D	0	-13.0727	19.5786	0.95455	0.0:1.0:0.0:0.0	.	644;645;608	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	F	645;608;644;511;565	ENSP00000366586:S645F;ENSP00000366591:S608F;ENSP00000366588:S644F;ENSP00000440445:S511F	ENSP00000366586:S645F	S	+	2	0	SLC39A12	18332280	1.000000	0.71417	0.997000	0.53966	0.229000	0.25112	5.966000	0.70395	2.711000	0.92665	0.655000	0.94253	TCC		0.368	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		30	64	0	0	0	0.008361	0	30	64				
KIF5B	3799	broad.mit.edu	37	10	32328341	32328341	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:32328341C>G	ENST00000302418.4	-	4	764	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	103	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CCCATGCCTTCTGGATCATGA	0.259			T	"""RET, ALK"""	NSCLC																																		uc001iwe.3		NA		Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	0				lung(4)|ovary(1)	5						c.(307-309)GAA>CAA		kinesin family member 5B							25.0	28.0	27.0					10																	32328341		2167	4245	6412	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32328341C>G	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.307G>C	10.37:g.32328341C>G	ENSP00000307078:p.Glu103Gln						p.E103Q	NM_004521	NP_004512	P33176	KINH_HUMAN			4	777	-		Prostate(175;0.0137)	103			Kinesin-motor.		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.307G>C	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	6.822	0.520775	0.13005	.	.	ENSG00000170759	ENST00000302418	T	0.73681	-0.77	5.52	5.52	0.82312	Kinesin, motor domain (4);	0.139301	0.64402	D	0.000005	T	0.67401	0.2889	L	0.38838	1.175	0.47905	D	0.999547	B	0.02656	0.0	B	0.04013	0.001	T	0.60606	-0.7230	10	0.23302	T	0.38	.	19.4272	0.94746	0.0:1.0:0.0:0.0	.	103	P33176	KINH_HUMAN	Q	103	ENSP00000307078:E103Q	ENSP00000307078:E103Q	E	-	1	0	KIF5B	32368347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.940000	0.56599	2.593000	0.87608	0.591000	0.81541	GAA		0.259	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		2	7	0	0	0	0.004672	0	2	7				
GDF10	2662	broad.mit.edu	37	10	48438671	48438671	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:48438671G>T	ENST00000224605.2	-	1	305	c.40C>A	c.(40-42)Ccc>Acc	p.P14T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	14					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						agcagcTGGGGCCCGGGTCCC	0.731																																							uc001jfb.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(40-42)CCC>ACC		growth differentiation factor 10 precursor							6.0	8.0	7.0					10																	48438671		1636	3681	5317	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48438671G>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.40C>A	10.37:g.48438671G>T	ENSP00000224605:p.Pro14Thr					GDF10_uc009xnp.2_Missense_Mutation_p.P14T|GDF10_uc009xnq.1_Missense_Mutation_p.P14T	p.P14T	NM_004962	NP_004953	P55107	BMP3B_HUMAN			1	496	-			14					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.40C>A	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	7.475	0.647558	0.14516	.	.	ENSG00000107623	ENST00000224605	T	0.74209	-0.82	4.73	-2.63	0.06133	.	2.041700	0.02515	N	0.091964	T	0.51007	0.1649	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42120	-0.9470	10	0.06236	T	0.91	.	1.3529	0.02177	0.3472:0.1291:0.3797:0.144	.	14	P55107	BMP3B_HUMAN	T	14	ENSP00000224605:P14T	ENSP00000224605:P14T	P	-	1	0	GDF10	48058677	0.033000	0.19621	0.000000	0.03702	0.011000	0.07611	0.887000	0.28254	-1.002000	0.03429	-0.251000	0.11542	CCC		0.731	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		9	9	1	0	1.58986e-06	0.008291	2.01586e-06	9	9				
FAM13C	220965	broad.mit.edu	37	10	61112030	61112030	+	Splice_Site	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:61112030C>A	ENST00000373868.2	-	3	411	c.324G>T	c.(322-324)caG>caT	p.Q108H	FAM13C_ENST00000435852.2_Splice_Site_p.Q108H|FAM13C_ENST00000422313.2_Splice_Site_p.Q108H|FAM13C_ENST00000277705.6_Splice_Site_p.Q108H|FAM13C_ENST00000419214.2_Splice_Site_p.Q108H|FAM13C_ENST00000468840.2_Splice_Site_p.Q25H|FAM13C_ENST00000373867.3_Splice_Site_p.Q25H|FAM13C_ENST00000442566.3_Splice_Site_p.Q108H	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	108										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GAGCTGCTACCTGACTTTCTC	0.562																																							uc001jkn.2		NA																	0				ovary(2)	2						c.(322-324)CAG>CAT		hypothetical protein LOC220965 isoform 1							73.0	71.0	72.0					10																	61112030		2203	4300	6503	SO:0001630	splice_region_variant	220965							g.chr10:61112030C>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.324+1G>T	10.37:g.61112030C>A						FAM13C_uc001jko.2_Missense_Mutation_p.Q108H|FAM13C_uc010qid.1_Missense_Mutation_p.Q25H|FAM13C_uc010qie.1_Missense_Mutation_p.Q25H|FAM13C_uc010qif.1_Missense_Mutation_p.Q130H|FAM13C_uc001jkp.2_Missense_Mutation_p.Q25H	p.Q108H	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			4	458	-			108					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.324G>T	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642294	0.67244	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000512919	T;T;T;T;T;T	0.56776	0.52;0.6;0.64;0.44;0.53;0.53	5.93	5.93	0.95920	.	0.323062	0.30492	N	0.009508	T	0.70456	0.3226	M	0.64997	1.995	0.44207	D	0.997031	D;D;D;D;D	0.76494	0.988;0.999;0.988;0.999;0.978	P;D;P;D;P	0.85130	0.874;0.997;0.874;0.997;0.808	T	0.67810	-0.5574	9	.	.	.	.	17.1215	0.86702	0.0:1.0:0.0:0.0	.	108;25;108;108;108	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	H	25;108;108;108;108;25;108;108;25	ENSP00000362975:Q108H;ENSP00000395661:Q108H;ENSP00000277705:Q108H;ENSP00000391993:Q108H;ENSP00000392302:Q108H;ENSP00000400241:Q108H	.	Q	-	3	2	FAM13C	60782036	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	4.100000	0.57762	2.828000	0.97474	0.650000	0.86243	CAG		0.562	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		Missense_Mutation	48	24	1	0	8.00217e-19	0.00361	1.2401e-18	48	24				
C10orf105	414152	broad.mit.edu	37	10	73468898	73468898	+	IGR	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:73468898C>A	ENST00000441508.2	-	0	4837				CDH23_ENST00000224721.6_Silent_p.A1055A	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											ACCGCGATGCCGTTGTGAGAA	0.627																																							uc001jrx.3		NA																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(3148-3150)GCC>GCA		cadherin-like 23 isoform 1 precursor							94.0	115.0	108.0					10																	73468898		2144	4249	6393	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73468898C>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73468898C>A						CDH23_uc001jrz.2_Silent_p.A666A	p.A1050A	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			26	3527	+			1050			Cadherin 10.|Extracellular (Potential).			Silent	SNP	ENST00000441508.2	37	c.3150C>A	CCDS44430.1																																																																																				0.627	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		41	25	1	0	1.30916e-28	0.00361	2.14153e-28	41	25				
DPYSL4	10570	broad.mit.edu	37	10	134017425	134017425	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:134017425C>T	ENST00000338492.4	+	13	1785	c.1621C>T	c.(1621-1623)Cta>Tta	p.L541L	DPYSL4_ENST00000368627.1_Silent_p.L381L|DPYSL4_ENST00000368629.1_Silent_p.L381L	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	541					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)			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)		GGGGTTCAGCCTATCTGGTGA	0.692																																							uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(1621-1623)CTA>TTA		dihydropyrimidinase-like 4							75.0	74.0	75.0					10																	134017425		2203	4300	6503	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134017425C>T	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.1621C>T	10.37:g.134017425C>T							p.L541L	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)	13	1775	+		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)	541					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.1621C>T	CCDS7665.1																																																																																				0.692	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			71	37	0	0	0	0.00361	0	71	37				
DCHS1	8642	broad.mit.edu	37	11	6640117	6640117	+	IGR	SNP	C	C	G	rs549309216		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:6640117C>G	ENST00000299441.3	-	0	10763				TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000299427.6_Missense_Mutation_p.R40P	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGTCCGCACGGCCCAGGGA	0.587																																							uc001mel.1		NA																	0					0						c.(118-120)CGT>CCT		tripeptidyl-peptidase I preproprotein							60.0	60.0	60.0					11																	6640117		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640117C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640117C>G						TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Missense_Mutation_p.R40P	p.R40P	NM_000391	NP_000382	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	3	180	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	40					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.119G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749921	0.69533	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	T;T	0.71103	-0.54;-0.54	5.64	4.72	0.59763	Proteinase inhibitor, propeptide (1);Peptidase S53, propeptide (2);	0.057570	0.64402	N	0.000001	T	0.73125	0.3547	M	0.71871	2.18	0.80722	D	1	P;P	0.49559	0.925;0.896	P;B	0.47118	0.538;0.234	T	0.72676	-0.4221	10	0.31617	T	0.26	-18.6436	13.6352	0.62219	0.0:0.8447:0.1553:0.0	.	40;40	B4DEQ3;O14773	.;TPP1_HUMAN	P	40	ENSP00000299427:R40P;ENSP00000398136:R40P	ENSP00000299427:R40P	R	-	2	0	TPP1	6596693	0.402000	0.25311	0.984000	0.44739	0.991000	0.79684	0.912000	0.28597	1.360000	0.45960	0.462000	0.41574	CGT		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		32	31	0	0	0	0.002836	0	32	31				
PPFIBP2	8495	broad.mit.edu	37	11	7631629	7631629	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:7631629G>T	ENST00000299492.4	+	6	982	c.594G>T	c.(592-594)caG>caT	p.Q198H	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.Q40H|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.Q55H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.Q86H	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	198					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAGAGAGCAGGAGGAGAAGC	0.502																																							uc001mfj.3		NA																	0				ovary(2)|breast(2)	4						c.(592-594)CAG>CAT		PTPRF interacting protein, binding protein 2							255.0	247.0	250.0					11																	7631629		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7631629G>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.594G>T	11.37:g.7631629G>T	ENSP00000299492:p.Gln198His					PPFIBP2_uc010rbb.1_Missense_Mutation_p.Q121H|PPFIBP2_uc001mfk.1_RNA|PPFIBP2_uc010rbc.1_Missense_Mutation_p.Q121H|PPFIBP2_uc010rbd.1_Missense_Mutation_p.Q40H|PPFIBP2_uc010rbe.1_Missense_Mutation_p.Q86H|PPFIBP2_uc001mfl.3_Missense_Mutation_p.Q55H	p.Q198H	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	6	982	+			198			Potential.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.594G>T	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870457	0.51588	.	.	ENSG00000166387	ENST00000299492;ENST00000529575;ENST00000533792;ENST00000525597;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T;T	0.68025	-0.27;-0.3;0.97;-0.27;-0.3	5.79	-0.802	0.10889	Integrase, Tn916-type, N-terminal DNA binding (1);	0.191144	0.36778	N	0.002407	T	0.39036	0.1063	N	0.08118	0	0.27037	N	0.96409	P;P;P;P;P	0.51537	0.911;0.852;0.891;0.934;0.946	P;P;B;P;P	0.47206	0.51;0.51;0.376;0.541;0.51	T	0.43540	-0.9385	10	0.17832	T	0.49	-18.8838	1.7038	0.02878	0.3794:0.1314:0.3565:0.1327	.	86;86;121;55;198	E9PK77;B7Z433;F5GWB0;E9PMU1;Q8ND30	.;.;.;.;LIPB2_HUMAN	H	198;40;40;40;40;121;86;55	ENSP00000299492:Q198H;ENSP00000436498:Q40H;ENSP00000433839:Q40H;ENSP00000435469:Q86H;ENSP00000437321:Q55H	ENSP00000299492:Q198H	Q	+	3	2	PPFIBP2	7588205	0.885000	0.30320	0.996000	0.52242	0.991000	0.79684	-0.072000	0.11486	-0.106000	0.12110	0.655000	0.94253	CAG		0.502	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		43	38	1	0	4.42602e-33	0.00874	7.37671e-33	43	38				
ABCC8	6833	broad.mit.edu	37	11	17464360	17464360	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:17464360C>A	ENST00000389817.3	-	10	1605	c.1537G>T	c.(1537-1539)Gcc>Tcc	p.A513S	ABCC8_ENST00000302539.4_Missense_Mutation_p.A513S|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	513	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TTCTCCCAGGCGTACAGCTTC	0.597																																							uc001mnc.2		NA																	0				ovary(1)	1						c.(1537-1539)GCC>TCC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						100.0	91.0	94.0					11																	17464360		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17464360C>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1537G>T	11.37:g.17464360C>A	ENSP00000374467:p.Ala513Ser					ABCC8_uc010rcy.1_Missense_Mutation_p.A512S	p.A513S	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	10	1663	-			513			Cytoplasmic (By similarity).|ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1537G>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617314	0.96649	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.90324	-2.65;-2.65	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96390	0.8822	M	0.88377	2.95	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.77004	0.973;0.989	D	0.96202	0.9146	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	512;513	B7Z4N0;Q09428	.;ABCC8_HUMAN	S	513;513;527	ENSP00000374467:A513S;ENSP00000303960:A513S	ENSP00000303960:A513S	A	-	1	0	ABCC8	17420936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.807000	0.86032	2.865000	0.98341	0.655000	0.94253	GCC		0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		25	32	1	0	7.33532e-06	0.003954	9.16915e-06	25	32				
SERGEF	26297	broad.mit.edu	37	11	17981157	17981157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:17981157G>A	ENST00000265965.5	-	9	1022	c.871C>T	c.(871-873)Cga>Tga	p.R291*	SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	291					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TAGTCTGCTCGGCCCCAGGTA	0.428																																							uc001mnm.2		NA																	0				central_nervous_system(1)	1						c.(871-873)CGA>TGA		deafness locus associated putative guanine							78.0	78.0	78.0					11																	17981157		2200	4293	6493	SO:0001587	stop_gained	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:17981157G>A	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.871C>T	11.37:g.17981157G>A	ENSP00000265965:p.Arg291*					SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Intron|SERGEF_uc010rcz.1_Intron|SERGEF_uc001mno.1_Nonsense_Mutation_p.R177*	p.R291*	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN			9	951	-			291			RCC1 6.		Q9UGK9	Nonsense_Mutation	SNP	ENST00000265965.5	37	c.871C>T	CCDS7828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.652623|5.652623	0.96724|0.96724	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000533241|ENST00000265965;ENST00000529728	.|.	.|.	.|.	6.17|6.17	5.21|5.21	0.72293|0.72293	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46946|.	0.1419|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24512|.	-1.0158|.	4|.	.|0.09338	.|T	.|0.73	-13.3687|-13.3687	12.0554|12.0554	0.53531|0.53531	0.0:0.0:0.8285:0.1715|0.0:0.0:0.8285:0.1715	.|.	.|.	.|.	.|.	L|X	63|291;177	.|.	.|ENSP00000265965:R291X	P|R	-|-	2|1	0|2	SERGEF|SERGEF	17937733|17937733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	3.189000|3.189000	0.50965|0.50965	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.428	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139		5	30	0	0	0	0.001168	0	5	30				
HPS5	11234	broad.mit.edu	37	11	18306904	18306904	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:18306904G>A	ENST00000349215.3	-	20	3217	c.2940C>T	c.(2938-2940)tgC>tgT	p.C980C	HPS5_ENST00000352460.3_Intron|HPS5_ENST00000537258.1_Silent_p.C87C|HPS5_ENST00000396253.3_Silent_p.C866C|HPS5_ENST00000438420.2_Silent_p.C866C	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	980					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CACAAGACCTGCAGATGTCTG	0.348									Hermansky-Pudlak syndrome																														uc001mod.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2938-2940)TGC>TGT		Hermansky-Pudlak syndrome 5 isoform a							58.0	59.0	59.0					11																	18306904		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18306904G>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2940C>T	11.37:g.18306904G>A						HPS5_uc001moe.1_Silent_p.C866C|HPS5_uc001mof.1_Silent_p.C866C	p.C980C	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			20	3218	-			980					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.2940C>T	CCDS7836.1																																																																																				0.348	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		21	9	0	0	0	0.001882	0	21	9				
NELL1	4745	broad.mit.edu	37	11	21555938	21555938	+	Missense_Mutation	SNP	A	A	C	rs201683742		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:21555938A>C	ENST00000357134.5	+	16	1816	c.1664A>C	c.(1663-1665)gAg>gCg	p.E555A	NELL1_ENST00000325319.5_Missense_Mutation_p.E498A|NELL1_ENST00000298925.5_Missense_Mutation_p.E583A|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	555	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAATGTTCAGAGGGAATCATT	0.458																																							uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1663-1665)GAG>GCG		nel-like 1 isoform 1 precursor		A	ALA/GLU,	0,4406		0,0,2203	162.0	144.0	150.0		1664,	4.2	1.0	11		150	3,8597	3.0+/-9.4	0,3,4297	yes	missense,intron	NELL1	NM_006157.3,NM_201551.1	107,	0,3,6500	CC,CA,AA		0.0349,0.0,0.0231	probably-damaging,	555/811,	21555938	3,13003	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21555938A>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1664A>C	11.37:g.21555938A>C	ENSP00000349654:p.Glu555Ala					NELL1_uc001mqf.2_Intron|NELL1_uc009yid.2_Missense_Mutation_p.E583A|NELL1_uc010rdo.1_Missense_Mutation_p.E498A|NELL1_uc010rdp.1_Intron|NELL1_uc001mqh.2_Silent_p.R165R	p.E555A	NM_006157	NP_006148	Q92832	NELL1_HUMAN			16	1817	+			555			EGF-like 5; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1664A>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811368	0.32053	0.0	3.49E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319	D;D;D	0.92199	-2.99;-2.99;-2.99	5.37	4.24	0.50183	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.84374	0.5458	L	0.28556	0.865	0.49130	D	0.99975	B;B;B	0.32573	0.288;0.376;0.19	B;B;B	0.27380	0.075;0.079;0.034	T	0.78550	-0.2161	10	0.18276	T	0.48	-19.7638	11.2182	0.48838	0.9275:0.0:0.0725:0.0	.	498;583;555	F5H6I3;B3KXR2;Q92832	.;.;NELL1_HUMAN	A	583;555;498	ENSP00000298925:E583A;ENSP00000349654:E555A;ENSP00000317837:E498A	ENSP00000298925:E583A	E	+	2	0	NELL1	21512514	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.581000	0.90788	0.873000	0.35799	0.377000	0.23210	GAG		0.458	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		12	45	0	0	0	0.00245	0	12	45				
NAT10	55226	broad.mit.edu	37	11	34139802	34139802	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:34139802C>T	ENST00000257829.3	+	7	839	c.633C>T	c.(631-633)tcC>tcT	p.S211S	NAT10_ENST00000531159.2_Silent_p.S139S|NAT10_ENST00000527971.1_Silent_p.S211S	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	211						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCATCTCCTCCCACGTTGCCA	0.542																																							uc001mvk.2		NA																	0				ovary(1)|skin(1)	2						c.(631-633)TCC>TCT		N-acetyltransferase 10 isoform a							97.0	90.0	92.0					11																	34139802		2202	4298	6500	SO:0001819	synonymous_variant	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34139802C>T	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.633C>T	11.37:g.34139802C>T						NAT10_uc010ren.1_Silent_p.S139S	p.S211S	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			7	877	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	211					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	ENST00000257829.3	37	c.633C>T	CCDS7889.1																																																																																				0.542	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		32	34	0	0	0	0.00623	0	32	34				
TRIM51	84767	broad.mit.edu	37	11	55655715	55655715	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:55655715A>G	ENST00000449290.2	+	4	807	c.715A>G	c.(715-717)Aaa>Gaa	p.K239E	TRIM51_ENST00000244891.3_Missense_Mutation_p.K96E	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	239						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AATGTGCCATAAAGCAGATGT	0.443																																							uc010rip.1		NA																	0					0						c.(715-717)AAA>GAA		SPRY domain containing 5							46.0	41.0	43.0					11																	55655715		2200	4292	6492	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655715A>G	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.715A>G	11.37:g.55655715A>G	ENSP00000395086:p.Lys239Glu					SPRYD5_uc010riq.1_Missense_Mutation_p.K96E	p.K239E	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			4	807	+		all_epithelial(135;0.226)	239					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.715A>G		.	.	.	.	.	.	.	.	.	.	.	10.63	1.404823	0.25378	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04654	3.58;3.58	0.757	0.757	0.18427	.	.	.	.	.	T	0.14313	0.0346	M	0.84326	2.69	0.09310	N	1	D	0.58268	0.982	P	0.58454	0.839	T	0.09487	-1.0672	9	0.56958	D	0.05	.	3.8345	0.08888	1.0:0.0:0.0:0.0	.	239	Q9BSJ1	SPRY5_HUMAN	E	239;96	ENSP00000395086:K239E;ENSP00000244891:K96E	ENSP00000244891:K96E	K	+	1	0	SPRYD5	55412291	0.005000	0.15991	0.006000	0.13384	0.445000	0.32107	0.030000	0.13688	0.594000	0.29761	0.128000	0.15822	AAA		0.443	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		13	14	0	0	0	0.003163	0	13	14				
OR8K1	390157	broad.mit.edu	37	11	56113597	56113597	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:56113597G>A	ENST00000279783.2	+	1	177	c.83G>A	c.(82-84)gGg>gAg	p.G28E		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GACAACCCTGGGCTGCAGGCT	0.458										HNSCC(65;0.19)																													uc010rjg.1		NA																	0				ovary(1)|pancreas(1)	2						c.(82-84)GGG>GAG		olfactory receptor, family 8, subfamily K,							116.0	106.0	110.0					11																	56113597		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113597G>A	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.83G>A	11.37:g.56113597G>A	ENSP00000279783:p.Gly28Glu	HNSCC(65;0.19)					p.G28E	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	83	+	Esophageal squamous(21;0.00448)		28			Extracellular (Potential).		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.83G>A	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	7.385	0.629669	0.14257	.	.	ENSG00000150261	ENST00000279783	T	0.00655	5.95	5.18	-10.2	0.00374	.	1.178250	0.06311	N	0.702633	T	0.00210	0.0006	N	0.00355	-1.605	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	10	0.02654	T	1	3.1496	5.3037	0.15791	0.5679:0.1654:0.1841:0.0825	.	28	Q8NGG5	OR8K1_HUMAN	E	28	ENSP00000279783:G28E	ENSP00000279783:G28E	G	+	2	0	OR8K1	55870173	0.000000	0.05858	0.000000	0.03702	0.767000	0.43475	-0.766000	0.04725	-2.166000	0.00780	0.549000	0.68633	GGG		0.458	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		5	26	0	0	0	0.001168	0	5	26				
OR5M10	390167	broad.mit.edu	37	11	56345063	56345063	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:56345063C>A	ENST00000526812.2	-	1	200	c.135G>T	c.(133-135)atG>atT	p.M45I		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCAGCAGGATCATGCACAGGT	0.473																																							uc001niz.1		NA																	0					0						c.(133-135)ATG>ATT		olfactory receptor, family 5, subfamily M,							163.0	157.0	159.0					11																	56345063		1971	4162	6133	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345063C>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.135G>T	11.37:g.56345063C>A	ENSP00000436004:p.Met45Ile						p.M45I	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	135	-			45			Helical; Name=1; (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.135G>T	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.289564	0.23478	.	.	ENSG00000254834	ENST00000526812	T	0.00330	8.08	4.04	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.10809	0.05	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.33727	-0.9857	9	0.52906	T	0.07	.	7.2268	0.26020	0.1949:0.6163:0.1888:0.0	.	45	Q6IEU7	OR5MA_HUMAN	I	45	ENSP00000436004:M45I	ENSP00000436004:M45I	M	-	3	0	OR5M10	56101639	0.006000	0.16342	0.064000	0.19789	0.212000	0.24457	-0.523000	0.06230	1.031000	0.39867	-0.175000	0.13238	ATG		0.473	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		44	17	1	0	1.03325e-14	0.002852	1.52117e-14	44	17				
GIF	2694	broad.mit.edu	37	11	59603316	59603316	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:59603316G>T	ENST00000257248.2	-	7	1085	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	GIF_ENST00000541311.1_Silent_p.V321V	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	346					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CTTCCTCTAGGACAACAAGTA	0.413																																					NSCLC(53;1139 1245 16872 38474 42853)	NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.2		NA																	0				ovary(1)|liver(1)	2						c.(1036-1038)GTC>GTA		gastric intrinsic factor (vitamin B synthesis)							236.0	215.0	222.0					11																	59603316		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59603316G>T	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1038C>A	11.37:g.59603316G>T							p.V346V	NM_005142	NP_005133	P27352	IF_HUMAN			7	1086	-			346					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.1038C>A	CCDS7977.1																																																																																				0.413	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		41	54	1	0	3.05275e-18	0.003214	4.67617e-18	41	54				
USP35	57558	broad.mit.edu	37	11	77911202	77911202	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:77911202C>T	ENST00000529308.1	+	5	1221	c.960C>T	c.(958-960)ccC>ccT	p.P320P	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.P51P|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	320					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGCTGTACCCCATCGTCCGGG	0.582																																							uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(958-960)CCC>CCT		ubiquitin specific protease 35							109.0	112.0	111.0					11																	77911202		1993	4147	6140	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77911202C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.960C>T	11.37:g.77911202C>T						USP35_uc001oze.2_Silent_p.P76P|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.P51P	p.P320P	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		5	1206	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		320						Silent	SNP	ENST00000529308.1	37	c.960C>T	CCDS41693.1																																																																																				0.582	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		15	118	0	0	0	0.004007	0	15	118				
AMOTL1	154810	broad.mit.edu	37	11	94533394	94533394	+	Silent	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:94533394C>G	ENST00000433060.2	+	3	1179	c.1038C>G	c.(1036-1038)gtC>gtG	p.V346V	AMOTL1_ENST00000317837.9_Silent_p.V346V|AMOTL1_ENST00000317829.8_Silent_p.V296V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	346					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACGAGATGGTCAAGCCCTACC	0.567																																							uc001pfb.2		NA																	0				ovary(1)|breast(1)	2						c.(1036-1038)GTC>GTG		angiomotin like 1							113.0	114.0	114.0					11																	94533394		2014	4167	6181	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533394C>G	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1038C>G	11.37:g.94533394C>G						AMOTL1_uc001pfc.2_Silent_p.V296V	p.V346V	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			3	1208	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	346					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.1038C>G	CCDS44712.1																																																																																				0.567	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		27	190	0	0	0	0.007291	0	27	190				
AMOTL1	154810	broad.mit.edu	37	11	94533413	94533413	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:94533413C>G	ENST00000433060.2	+	3	1198	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E	AMOTL1_ENST00000317837.9_Missense_Mutation_p.Q353E|AMOTL1_ENST00000317829.8_Missense_Mutation_p.Q303E	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	353					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCCTGCTCCTCAGCCTGTGAG	0.567																																							uc001pfb.2		NA																	0				ovary(1)|breast(1)	2						c.(1057-1059)CAG>GAG		angiomotin like 1							103.0	104.0	103.0					11																	94533413		2001	4165	6166	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533413C>G	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1057C>G	11.37:g.94533413C>G	ENSP00000387739:p.Gln353Glu					AMOTL1_uc001pfc.2_Missense_Mutation_p.Q303E	p.Q353E	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			3	1227	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	353					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.1057C>G	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758232	0.49468	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13307	2.6;2.6;2.6	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000002	T	0.30572	0.0769	M	0.78637	2.42	0.41984	D	0.990815	P;D	0.54207	0.885;0.965	P;P	0.50659	0.647;0.637	T	0.08229	-1.0732	9	.	.	.	-27.0259	18.5608	0.91100	0.0:1.0:0.0:0.0	.	303;353	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	E	303;359;353;353	ENSP00000320968:Q303E;ENSP00000323474:Q353E;ENSP00000387739:Q353E	.	Q	+	1	0	AMOTL1	94173061	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	4.634000	0.61325	2.395000	0.81488	0.555000	0.69702	CAG		0.567	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		24	176	0	0	0	0.00333	0	24	176				
EXPH5	23086	broad.mit.edu	37	11	108384059	108384059	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:108384059T>A	ENST00000265843.4	-	6	2285	c.2175A>T	c.(2173-2175)gaA>gaT	p.E725D	EXPH5_ENST00000525344.1_Missense_Mutation_p.E718D|EXPH5_ENST00000428840.1_Missense_Mutation_p.E649D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E537D|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	725					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTTGGGGTATTTCACCTGCCT	0.403																																							uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(2173-2175)GAA>GAT		exophilin 5 isoform a							89.0	96.0	93.0					11																	108384059		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384059T>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2175A>T	11.37:g.108384059T>A	ENSP00000265843:p.Glu725Asp					EXPH5_uc010rvy.1_Missense_Mutation_p.E537D|EXPH5_uc010rvz.1_Missense_Mutation_p.E569D|EXPH5_uc010rwa.1_Missense_Mutation_p.E649D	p.E725D	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2286	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	725					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2175A>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336488	0.41398	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04317	4.24;4.17;4.02;4.24;4.09;3.65	6.04	1.91	0.25777	.	0.369804	0.26654	N	0.023184	T	0.06554	0.0168	M	0.63428	1.95	0.09310	N	1	P	0.51933	0.949	P	0.45881	0.496	T	0.29822	-0.9999	10	0.31617	T	0.26	-7.4648	4.2916	0.10881	0.0:0.2225:0.166:0.6114	.	725	Q8NEV8	EXPH5_HUMAN	D	725;649;537;718;649;537	ENSP00000265843:E725D;ENSP00000391966:E649D;ENSP00000411390:E537D;ENSP00000432546:E718D;ENSP00000432683:E649D;ENSP00000446434:E537D	ENSP00000265843:E725D	E	-	3	2	EXPH5	107889269	0.026000	0.19158	0.054000	0.19295	0.268000	0.26511	0.605000	0.24179	0.061000	0.16311	0.460000	0.39030	GAA		0.403	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		7	62	0	0	0	0.001984	0	7	62				
GRAMD1B	57476	broad.mit.edu	37	11	123485517	123485517	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:123485517C>A	ENST00000529750.1	+	16	2190	c.1863C>A	c.(1861-1863)tcC>tcA	p.S621S	GRAMD1B_ENST00000450171.2_Silent_p.S312S|GRAMD1B_ENST00000456860.2_Silent_p.S628S|GRAMD1B_ENST00000322282.7_Silent_p.S621S	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	621						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		AGAGCGTGTCCAAGCTGCTGC	0.567																																							uc001pyx.2		NA																	0				ovary(1)	1						c.(1861-1863)TCC>TCA		GRAM domain containing 1B							58.0	61.0	60.0					11																	123485517		2008	4162	6170	SO:0001819	synonymous_variant	57476					integral to membrane		g.chr11:123485517C>A	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1863C>A	11.37:g.123485517C>A						GRAMD1B_uc001pyw.2_Silent_p.S628S|GRAMD1B_uc010rzw.1_Silent_p.S581S|GRAMD1B_uc010rzx.1_Silent_p.S581S|GRAMD1B_uc001pyy.2_Silent_p.S312S	p.S621S	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	16	2192	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	621					Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	37	c.1863C>A	CCDS53720.1																																																																																				0.567	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		10	3	1	0	1.76689e-08	0.006214	2.3529e-08	10	3				
ITFG2	55846	broad.mit.edu	37	12	2930756	2930756	+	Missense_Mutation	SNP	C	C	G	rs573740096		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:2930756C>G	ENST00000228799.2	+	8	980	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V	ITFG2_ENST00000419778.2_Missense_Mutation_p.L104V|ITFG2_ENST00000542548.1_Missense_Mutation_p.L169V	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	281					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCTGTGCACCCTGGATGGTGA	0.612																																							uc001qlb.1		NA																	0					0						c.(841-843)CTG>GTG		integrin alpha FG-GAP repeat containing 2							92.0	82.0	85.0					12																	2930756		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2930756C>G	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.841C>G	12.37:g.2930756C>G	ENSP00000228799:p.Leu281Val					ITFG2_uc010seb.1_Missense_Mutation_p.L104V|ITFG2_uc010sec.1_RNA	p.L281V	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		8	905	+			281					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.841C>G	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460369	0.63401	.	.	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	T;T;T	0.70516	-0.49;2.29;2.29	5.38	3.53	0.40419	.	0.000000	0.64402	D	0.000001	D	0.82568	0.5065	M	0.83953	2.67	0.58432	D	0.999994	D	0.69078	0.997	D	0.78314	0.991	T	0.82337	-0.0507	10	0.87932	D	0	-2.2902	8.8917	0.35437	0.0:0.7685:0.0:0.2315	.	281	Q969R8	ITFG2_HUMAN	V	281;104;169	ENSP00000228799:L281V;ENSP00000401103:L104V;ENSP00000437870:L169V	ENSP00000228799:L281V	L	+	1	2	ITFG2	2801017	0.117000	0.22190	0.999000	0.59377	0.892000	0.51952	0.512000	0.22755	0.621000	0.30232	0.555000	0.69702	CTG		0.612	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		33	65	0	0	0	0.003755	0	33	65				
ITFG2	55846	broad.mit.edu	37	12	2930955	2930955	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:2930955C>T	ENST00000228799.2	+	9	1084	c.945C>T	c.(943-945)gtC>gtT	p.V315V	ITFG2_ENST00000419778.2_Silent_p.V138V|ITFG2_ENST00000542548.1_Silent_p.V203V	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	315					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AACTGGATGTCACCGTGAGTG	0.502																																							uc001qlb.1		NA																	0					0						c.(943-945)GTC>GTT		integrin alpha FG-GAP repeat containing 2							127.0	120.0	122.0					12																	2930955		2203	4300	6503	SO:0001819	synonymous_variant	55846							g.chr12:2930955C>T	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.945C>T	12.37:g.2930955C>T						ITFG2_uc010seb.1_Silent_p.V138V|ITFG2_uc010sec.1_RNA	p.V315V	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		9	1009	+			315					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Silent	SNP	ENST00000228799.2	37	c.945C>T	CCDS8513.1																																																																																				0.502	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		48	78	0	0	0	0.00361	0	48	78				
TEAD4	7004	broad.mit.edu	37	12	3129844	3129844	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:3129844C>T	ENST00000397122.2	+	7	526	c.241C>T	c.(241-243)Ccg>Tcg	p.P81S	TEAD4_ENST00000358409.2_Missense_Mutation_p.P167S|TEAD4_ENST00000359864.2_Missense_Mutation_p.P210S	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	210					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCTGCGCCCCCGGCACCCCC	0.672																																							uc010sej.1		NA																	0					0						c.(625-627)CCG>TCG		TEA domain family member 4 isoform 1							58.0	50.0	52.0					12																	3129844		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3129844C>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.241C>T	12.37:g.3129844C>T	ENSP00000380311:p.Pro81Ser					TEAD4_uc010sek.1_Missense_Mutation_p.P166S|TEAD4_uc001qln.2_Missense_Mutation_p.P81S	p.P209S	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		9	902	+	Ovarian(42;0.211)		210					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.625C>T	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.346705|2.346705	0.41599|0.41599	.|.	.|.	ENSG00000197905|ENSG00000197905	ENST00000544666|ENST00000358409;ENST00000359864;ENST00000397122	T|T;T;T	0.30182|0.39592	1.54|1.07;1.07;1.07	4.84|4.84	2.97|2.97	0.34412|0.34412	.|.	0.461817|0.461817	0.23989|0.23989	N|N	0.042590|0.042590	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.12961|0.12961	0.28|0.28	0.35860|0.35860	D|D	0.827415|0.827415	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.13282|0.13282	-1.0515|-1.0515	8|10	0.66056|0.12103	D|T	0.02|0.63	-3.2906|-3.2906	6.65|6.65	0.22957|0.22957	0.0:0.6469:0.0:0.3531|0.0:0.6469:0.0:0.3531	.|.	.|210	.|Q15561	.|TEAD4_HUMAN	L|S	132|167;210;81	ENSP00000441959:P132L|ENSP00000351184:P167S;ENSP00000352926:P210S;ENSP00000380311:P81S	ENSP00000441959:P132L|ENSP00000351184:P167S	P|P	+|+	2|1	0|0	TEAD4|TEAD4	3000105|3000105	0.003000|0.003000	0.15002|0.15002	0.622000|0.622000	0.29159|0.29159	0.718000|0.718000	0.41266|0.41266	1.678000|1.678000	0.37586|0.37586	1.185000|1.185000	0.42971|0.42971	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.672	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		39	24	0	0	0	0.00623	0	39	24				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GTT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	p.G12V	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		5	7	1	0	8.12818e-05	0.001984	9.44723e-05	5	7				
ADAMTS20	80070	broad.mit.edu	37	12	43846406	43846406	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:43846406C>A	ENST00000389420.3	-	13	1852	c.1853G>T	c.(1852-1854)cGa>cTa	p.R618L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R618L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	618	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCTTCTCTCGAAAGTCTTG	0.423																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1852-1854)CGA>CTA		a disintegrin-like and metalloprotease with							88.0	75.0	80.0					12																	43846406		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43846406C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1853G>T	12.37:g.43846406C>A	ENSP00000374071:p.Arg618Leu						p.R618L	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	13	1853	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	618			Cys-rich.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1853G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	32	5.108446	0.94292	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.06528	3.29;3.29	4.85	4.85	0.62838	.	0.000000	0.44483	D	0.000455	T	0.38931	0.1059	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57510	-0.7799	10	0.87932	D	0	.	18.851	0.92230	0.0:1.0:0.0:0.0	.	618	P59510	ATS20_HUMAN	L	618	ENSP00000374071:R618L;ENSP00000448341:R618L	ENSP00000374068:R618L	R	-	2	0	ADAMTS20	42132673	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.445000	0.80570	2.624000	0.88883	0.563000	0.77884	CGA		0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		15	22	1	0	1.49906e-05	0.00245	1.82225e-05	15	22				
COL2A1	1280	broad.mit.edu	37	12	48369227	48369227	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:48369227G>A	ENST00000380518.3	-	51	3923	c.3759C>T	c.(3757-3759)gcC>gcT	p.A1253A	COL2A1_ENST00000337299.6_Silent_p.A1184A|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1253	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CATCCACCTCGGCGTCATGCT	0.647																																							uc001rqu.2		NA																	0				ovary(1)|skin(1)	2						c.(3757-3759)GCC>GCT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						83.0	74.0	77.0					12																	48369227		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48369227G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3759C>T	12.37:g.48369227G>A						COL2A1_uc001rqt.2_Silent_p.A34A|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.A1184A	p.A1253A	NM_001844	NP_001835	P02458	CO2A1_HUMAN			51	3940	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1253			Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.3759C>T	CCDS41778.1																																																																																				0.647	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		17	74	0	0	0	0.001523	0	17	74				
KRT79	338785	broad.mit.edu	37	12	53216924	53216924	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:53216924G>T	ENST00000330553.5	-	7	1277	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	415	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGGTGCAGGGCCACATCC	0.612																																							uc001sbb.2		NA																	0				ovary(2)|skin(2)	4						c.(1243-1245)CTG>ATG		keratin 6L							101.0	94.0	96.0					12																	53216924		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53216924G>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1243C>A	12.37:g.53216924G>T	ENSP00000328358:p.Leu415Met					KRT79_uc001sba.2_Missense_Mutation_p.L186M	p.L415M	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			7	1276	-			415			Rod.|Coil 2.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1243C>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227238	0.58668	.	.	ENSG00000185640	ENST00000330553;ENST00000549255	D;D	0.91894	-2.93;-2.93	3.92	1.97	0.26223	Filament (1);	0.000000	0.35124	N	0.003438	D	0.95850	0.8649	M	0.90759	3.145	0.36526	D	0.870447	D	0.89917	1.0	D	0.87578	0.998	D	0.95910	0.8922	10	0.72032	D	0.01	.	9.2002	0.37254	0.1953:0.0:0.8047:0.0	.	415	Q5XKE5	K2C79_HUMAN	M	415;1	ENSP00000328358:L415M;ENSP00000449159:L1M	ENSP00000328358:L415M	L	-	1	2	KRT79	51503191	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	3.351000	0.52232	0.547000	0.28938	-0.378000	0.06908	CTG		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		30	36	1	0	1.7881e-09	0.008361	2.42998e-09	30	36				
KIF5A	3798	broad.mit.edu	37	12	57969439	57969439	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:57969439G>T	ENST00000455537.2	+	17	2196	c.1922G>T	c.(1921-1923)cGc>cTc	p.R641L	KIF5A_ENST00000286452.5_Missense_Mutation_p.R552L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	641					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCCAAGATCCGCTCGCTTACG	0.557																																							uc001sor.1		NA																	0				ovary(2)|skin(1)	3						c.(1921-1923)CGC>CTC		kinesin family member 5A							134.0	125.0	128.0					12																	57969439		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57969439G>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1922G>T	12.37:g.57969439G>T	ENSP00000408979:p.Arg641Leu					KIF5A_uc010srr.1_Missense_Mutation_p.R552L	p.R641L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			17	2130	+			641					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1922G>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282847	0.59867	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.79352	-1.26;-1.26	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	L	0.53249	1.67	0.58432	D	0.999999	B;B	0.33171	0.25;0.4	B;B	0.30401	0.115;0.115	T	0.75243	-0.3386	10	0.46703	T	0.11	.	16.2291	0.82321	0.0:0.0:1.0:0.0	.	552;641	B7Z2M7;Q12840	.;KIF5A_HUMAN	L	641;552	ENSP00000408979:R641L;ENSP00000286452:R552L	ENSP00000286452:R552L	R	+	2	0	KIF5A	56255706	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	1.722000	0.38042	2.440000	0.82611	0.655000	0.94253	CGC		0.557	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		25	141	1	0	1.36565e-18	0.00278	2.10405e-18	25	141				
BEST3	144453	broad.mit.edu	37	12	70087509	70087509	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:70087509C>T	ENST00000330891.5	-	4	652	c.426G>A	c.(424-426)tcG>tcA	p.S142S	BEST3_ENST00000551160.1_Silent_p.S36S|BEST3_ENST00000393365.1_Silent_p.S36S|BEST3_ENST00000553096.1_Silent_p.S36S|BEST3_ENST00000331471.4_Silent_p.S142S|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000266661.4_Silent_p.S36S	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	142					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGTGCTCACCGAGCGAAAGA	0.527																																							uc001svg.2		NA																	0					0						c.(424-426)TCG>TCA		vitelliform macular dystrophy 2-like 3 isoform							131.0	105.0	114.0					12																	70087509		2203	4300	6503	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70087509C>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.426G>A	12.37:g.70087509C>T						BEST3_uc001svd.1_Silent_p.S142S|BEST3_uc001sve.1_RNA|BEST3_uc010stm.1_Silent_p.S36S|BEST3_uc001svh.2_5'UTR|BEST3_uc001svi.1_RNA	p.S142S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		4	653	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		142			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.426G>A	CCDS8992.2																																																																																				0.527	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		5	48	0	0	0	0.001984	0	5	48				
ZMYM5	9205	broad.mit.edu	37	13	20426052	20426052	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr13:20426052T>C	ENST00000337963.4	-	3	533	c.269A>G	c.(268-270)gAa>gGa	p.E90G	ZMYM5_ENST00000382907.4_Missense_Mutation_p.E90G|ZMYM5_ENST00000382905.4_Missense_Mutation_p.E90G	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	90						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTGAGGCTTTTCATTTTTTGA	0.333																																							uc010tcn.1		NA																	0					0						c.(268-270)GAA>GGA		zinc finger protein 237 isoform 3							64.0	65.0	64.0					13																	20426052		2202	4300	6502	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20426052T>C	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.269A>G	13.37:g.20426052T>C	ENSP00000337034:p.Glu90Gly					ZMYM5_uc001umm.1_5'UTR|ZMYM5_uc001umn.2_Missense_Mutation_p.E90G|ZMYM5_uc001umo.2_Missense_Mutation_p.E90G	p.E90G	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	534	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	90					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.269A>G		.	.	.	.	.	.	.	.	.	.	T	14.77	2.635948	0.47049	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.74	2.29	0.28610	.	.	.	.	.	T	0.31765	0.0807	M	0.69823	2.125	0.31240	N	0.69527	B;B;B	0.27997	0.001;0.197;0.197	B;B;B	0.25140	0.004;0.058;0.058	T	0.33904	-0.9850	9	0.72032	D	0.01	-6.7813	9.0107	0.36139	0.0:0.1519:0.0:0.8481	.	90;90;90	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	G	90;80;90;90	ENSP00000337034:E90G;ENSP00000445779:E80G;ENSP00000372364:E90G;ENSP00000372361:E90G	ENSP00000337034:E90G	E	-	2	0	ZMYM5	19324052	1.000000	0.71417	0.993000	0.49108	0.564000	0.35744	3.713000	0.54882	0.410000	0.25675	0.459000	0.35465	GAA		0.333	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		10	19	0	0	0	0.006214	0	10	19				
PCDH8	5100	broad.mit.edu	37	13	53421573	53421573	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr13:53421573G>T	ENST00000377942.3	-	1	1202	c.999C>A	c.(997-999)ccC>ccA	p.P333P	PCDH8_ENST00000338862.4_Silent_p.P333P	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGGCAGCGCGGGGCCCGGGTC	0.721																																					GBM(36;25 841 9273 49207)	GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(997-999)CCC>CCA		protocadherin 8 isoform 1 precursor							15.0	13.0	14.0					13																	53421573		2031	4067	6098	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421573G>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.999C>A	13.37:g.53421573G>T						PCDH8_uc001vhj.2_Silent_p.P333P	p.P333P	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1202	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	333			Extracellular (Potential).|Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.999C>A	CCDS9438.1																																																																																				0.721	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		13	10	1	0	3.41278e-10	0.00499	4.66179e-10	13	10				
DOCK9	23348	broad.mit.edu	37	13	99489762	99489762	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr13:99489762T>G	ENST00000376460.1	-	39	4311	c.4231A>C	c.(4231-4233)Aca>Cca	p.T1411P	DOCK9_ENST00000339416.2_Missense_Mutation_p.T1412P|DOCK9-AS1_ENST00000439367.1_RNA|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1412					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACGCCAATGTAAATAGAGAA	0.433																																							uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(4234-4236)ACA>CCA		dedicator of cytokinesis 9 isoform a							110.0	109.0	109.0					13																	99489762		2019	4175	6194	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99489762T>G	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4231A>C	13.37:g.99489762T>G	ENSP00000365643:p.Thr1411Pro					DOCK9_uc001vnw.2_Missense_Mutation_p.T1411P|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.T1412P|DOCK9_uc001vnq.2_5'UTR|DOCK9_uc001vnr.2_Missense_Mutation_p.T55P|DOCK9_uc010tin.1_Missense_Mutation_p.T55P|DOCK9_uc001vns.2_5'UTR|DOCK9_uc010tio.1_Missense_Mutation_p.T104P|DOCK9_uc010tip.1_Missense_Mutation_p.T122P|DOCK9_uc001vnu.1_5'UTR|DOCK9_uc010tiq.1_Missense_Mutation_p.T390P	p.T1412P	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			39	4289	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1412					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.4234A>C	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.92|19.92	3.916032|3.916032	0.73098|0.73098	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000450257|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000340449;ENST00000449796	.|T;T;T;T	.|0.68181	.|-0.19;-0.19;-0.31;3.54	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.048908	.|0.85682	.|D	.|0.000000	T|T	0.73210|0.73210	0.3558|0.3558	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	.|D;B;P;D;D	.|0.62365	.|0.991;0.296;0.577;0.96;0.966	.|P;B;B;P;P	.|0.58721	.|0.732;0.212;0.418;0.844;0.492	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.62326	.|D	.|0.03	.|.	15.87|15.87	0.79108|0.79108	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1412;131;55;1411;1412	.|A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29	.|.;.;.;.;DOCK9_HUMAN	F|P	107|1411;1412;1404;1412;1411;342;1412;54;55;155	.|ENSP00000365643:T1411P;ENSP00000341086:T1412P;ENSP00000344702:T55P;ENSP00000403528:T155P	.|ENSP00000341086:T1412P	L|T	-|-	3|1	2|0	DOCK9|DOCK9	98287763|98287763	1.000000|1.000000	0.71417|0.71417	0.693000|0.693000	0.30195|0.30195	0.651000|0.651000	0.38670|0.38670	5.830000|5.830000	0.69324|0.69324	2.145000|2.145000	0.66743|0.66743	0.533000|0.533000	0.62120|0.62120	TTA|ACA		0.433	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		8	13	0	0	0	0.004482	0	8	13				
TMTC4	84899	broad.mit.edu	37	13	101277801	101277801	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr13:101277801G>C	ENST00000376234.3	-	14	1956	c.1767C>G	c.(1765-1767)aaC>aaG	p.N589K	TMTC4_ENST00000328767.5_Missense_Mutation_p.N478K|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.N608K	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	589						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACGCCCGAGGTTGTAGTAAC	0.458																																							uc001vou.2		NA																	0				ovary(2)|breast(1)	3						c.(1765-1767)AAC>AAG		transmembrane and tetratricopeptide repeat							128.0	111.0	116.0					13																	101277801		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101277801G>C		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1767C>G	13.37:g.101277801G>C	ENSP00000365408:p.Asn589Lys					TMTC4_uc001vot.2_Missense_Mutation_p.N608K|TMTC4_uc010tja.1_Missense_Mutation_p.N478K|TMTC4_uc001vov.1_Missense_Mutation_p.N334K|TMTC4_uc001vow.1_Missense_Mutation_p.N372K	p.N589K	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			14	1927	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		589			TPR 5.		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1767C>G	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180878	0.78677	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.69306	-0.39;-0.39;-0.39	5.61	3.86	0.44501	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83631	0.5296	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.998;0.998;1.0;0.981	D	0.85340	0.1095	10	0.87932	D	0	.	7.9996	0.30288	0.2655:0.0:0.7345:0.0	.	478;589;589;608	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	K	589;608;478	ENSP00000365408:N589K;ENSP00000343871:N608K;ENSP00000365409:N478K	ENSP00000365409:N478K	N	-	3	2	TMTC4	100075802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.593000	0.46180	1.506000	0.48736	0.655000	0.94253	AAC		0.458	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		22	26	0	0	0	0.003954	0	22	26				
POTEG	404785	broad.mit.edu	37	14	19553788	19553788	+	Silent	SNP	C	C	T	rs574203975	byFrequency	TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:19553788C>T	ENST00000409832.3	+	1	424	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	124										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGACTACGACGACAGCGCTT	0.592													C|||	2	0.000399361	0.0015	0.0	5008	,	,		61352	0.0		0.0	False		,,,				2504	0.0						uc001vuz.1		NA																	0				ovary(1)	1						c.(370-372)GAC>GAT		POTE ankyrin domain family, member G																																				SO:0001819	synonymous_variant	404785							g.chr14:19553788C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.372C>T	14.37:g.19553788C>T						POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.D124D	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	424	+			124					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.372C>T	CCDS32018.1																																																																																				0.592	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		64	575	0	0	0	0.00361	0	64	575				
OR4N2	390429	broad.mit.edu	37	14	20295901	20295901	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:20295901C>A	ENST00000315947.1	+	1	294	c.294C>A	c.(292-294)atC>atA	p.I98I	OR4N2_ENST00000568211.1_Silent_p.I98I	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGGCTGCATCACTCAGCTCT	0.532																																							uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(292-294)ATC>ATA		olfactory receptor, family 4, subfamily N,							120.0	136.0	131.0					14																	20295901		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295901C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.294C>A	14.37:g.20295901C>A							p.I98I	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	294	+	all_cancers(95;0.00108)		98			Extracellular (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.294C>A	CCDS32022.1																																																																																				0.532	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			111	61	1	0	4.58075e-42	0.00361	7.73183e-42	111	61				
FRMD6	122786	broad.mit.edu	37	14	52169297	52169297	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:52169297G>C	ENST00000344768.5	+	5	558	c.362G>C	c.(361-363)aGa>aCa	p.R121T	FRMD6_ENST00000395718.2_Missense_Mutation_p.R113T|FRMD6_ENST00000554167.1_Missense_Mutation_p.R44T|FRMD6_ENST00000356218.4_Missense_Mutation_p.R113T			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	121	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GAAAATGGCAGATTGATCAGG	0.403																																							uc001wzd.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(361-363)AGA>ACA		FERM domain containing 6							192.0	196.0	195.0					14																	52169297		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52169297G>C	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.362G>C	14.37:g.52169297G>C	ENSP00000343899:p.Arg121Thr					FRMD6_uc001wzb.2_Missense_Mutation_p.R113T|FRMD6_uc001wzc.2_Missense_Mutation_p.R113T|FRMD6_uc001wze.2_Missense_Mutation_p.R44T	p.R121T	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			5	647	+	all_epithelial(31;0.0163)|Breast(41;0.089)		121			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.362G>C	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408528	0.42715	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167;ENST00000557405	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.81	3.0	0.34707	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.130551	0.64402	D	0.000002	T	0.40979	0.1139	M	0.79805	2.47	0.80722	D	1	B;B;B	0.23316	0.013;0.017;0.083	B;B;B	0.36418	0.02;0.092;0.224	T	0.29518	-1.0009	10	0.52906	T	0.07	.	10.3735	0.44068	0.2131:0.0:0.7869:0.0	.	44;121;113	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	T	113;113;121;52;44;11	ENSP00000348550:R113T;ENSP00000379068:R113T;ENSP00000343899:R121T;ENSP00000451453:R52T;ENSP00000451977:R44T;ENSP00000450667:R11T	ENSP00000343899:R121T	R	+	2	0	FRMD6	51239047	0.993000	0.37304	0.217000	0.23759	0.860000	0.49131	4.856000	0.62932	0.372000	0.24591	0.655000	0.94253	AGA		0.403	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		49	178	0	0	0	0.00361	0	49	178				
KIAA0586	9786	broad.mit.edu	37	14	58965518	58965518	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:58965518G>T	ENST00000556134.1	+	28	4237	c.3963G>T	c.(3961-3963)gtG>gtT	p.V1321V	KIAA0586_ENST00000261244.5_Silent_p.V1260V|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.V1389V|KIAA0586_ENST00000423743.3_Silent_p.V1292V	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1321					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAACAGTGTGGGTGAACTTA	0.378																																							uc001xdv.3		NA																	0				ovary(1)	1						c.(3778-3780)GTG>GTT		talpid3 protein							74.0	68.0	70.0					14																	58965518		1876	4117	5993	SO:0001819	synonymous_variant	9786							g.chr14:58965518G>T	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3963G>T	14.37:g.58965518G>T						KIAA0586_uc010trr.1_Silent_p.V1377V|KIAA0586_uc001xdt.3_Silent_p.V1292V|KIAA0586_uc001xdu.3_Silent_p.V1321V|KIAA0586_uc010trs.1_Silent_p.V1251V|KIAA0586_uc010trt.1_Silent_p.V1196V	p.V1260V	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			26	4053	+			1260					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	37	c.3780G>T	CCDS58321.1																																																																																				0.378	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		9	18	1	0	3.86212e-05	0.008291	4.58951e-05	9	18				
SLC8A3	6547	broad.mit.edu	37	14	70634240	70634240	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:70634240G>C	ENST00000381269.2	-	2	1653	c.900C>G	c.(898-900)aaC>aaG	p.N300K	SLC8A3_ENST00000534137.1_Missense_Mutation_p.N300K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.N300K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.N300K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.N300K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	300					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGGGCACCAGGTTCCCATCTA	0.483																																							uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(898-900)AAC>AAG		solute carrier family 8 (sodium/calcium							114.0	106.0	109.0					14																	70634240		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634240G>C	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.900C>G	14.37:g.70634240G>C	ENSP00000370669:p.Asn300Lys					SLC8A3_uc001xlw.2_Missense_Mutation_p.N300K|SLC8A3_uc001xlx.2_Missense_Mutation_p.N300K|SLC8A3_uc001xlz.2_Missense_Mutation_p.N300K|SLC8A3_uc010ara.2_RNA	p.N300K	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1654	-			300			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.900C>G	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.983312	0.02180	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.34472	1.44;1.36;1.5;1.44;1.5	5.71	0.802	0.18686	.	0.297018	0.38272	N	0.001757	T	0.20088	0.0483	N	0.11064	0.09	0.54753	D	0.999989	P;B;P;P	0.50443	0.481;0.35;0.885;0.935	B;B;P;P	0.49047	0.205;0.101;0.599;0.599	T	0.10268	-1.0637	10	0.06494	T	0.89	.	9.3031	0.37858	0.4072:0.0:0.5928:0.0	.	300;300;300;300	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	K	300	ENSP00000349392:N300K;ENSP00000370669:N300K;ENSP00000350560:N300K;ENSP00000436688:N300K;ENSP00000433531:N300K	ENSP00000349392:N300K	N	-	3	2	SLC8A3	69703993	0.996000	0.38824	0.989000	0.46669	0.988000	0.76386	0.460000	0.21924	-0.117000	0.11872	0.561000	0.74099	AAC		0.483	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			24	52	0	0	0	0.005443	0	24	52				
HHIPL1	84439	broad.mit.edu	37	14	100129272	100129272	+	Missense_Mutation	SNP	G	G	A	rs200943006		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:100129272G>A	ENST00000330710.5	+	6	1660	c.1562G>A	c.(1561-1563)tGc>tAc	p.C521Y	HHIPL1_ENST00000357223.2_Missense_Mutation_p.C521Y	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	521					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGTGAGATCTGCATGGGCCAC	0.592																																							uc010avs.2		NA																	0				skin(2)	2						c.(1561-1563)TGC>TAC		HHIP-like protein 1 isoform a							105.0	88.0	94.0					14																	100129272		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129272G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1562G>A	14.37:g.100129272G>A	ENSP00000330601:p.Cys521Tyr					HHIPL1_uc001ygl.1_Missense_Mutation_p.C521Y	p.C521Y	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			6	1627	+		Melanoma(154;0.128)	521					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1562G>A	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515927	0.85495	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.10288	2.89;2.89	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.62205	-0.6903	10	0.87932	D	0	.	18.0427	0.89323	0.0:0.0:1.0:0.0	.	521;521	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	Y	521	ENSP00000330601:C521Y;ENSP00000349757:C521Y	ENSP00000330601:C521Y	C	+	2	0	HHIPL1	99199025	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.813000	0.99286	2.267000	0.75376	0.655000	0.94253	TGC		0.592	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		6	56	0	0	0	0.001168	0	6	56				
CINP	51550	broad.mit.edu	37	14	102822165	102822165	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:102822165C>A	ENST00000216756.6	-	3	286	c.246G>T	c.(244-246)ctG>ctT	p.L82L	snoU13_ENST00000458912.1_RNA|CINP_ENST00000541568.2_Silent_p.L82L|CINP_ENST00000536961.2_Silent_p.L97L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	82					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						CGTTATATTCCAGACACACCT	0.438																																							uc001ylv.1		NA																	0				large_intestine(1)	1						c.(244-246)CTG>CTT		cyclin-dependent kinase 2-interacting protein							208.0	162.0	177.0					14																	102822165		2203	4300	6503	SO:0001819	synonymous_variant	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102822165C>A	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.246G>T	14.37:g.102822165C>A						CINP_uc001ylu.1_RNA	p.L82L	NM_032630	NP_116019	Q9BW66	CINP_HUMAN			3	311	-			82			Potential.		F5H7P3|F5H8A7|Q9NPF9	Silent	SNP	ENST00000216756.6	37	c.246G>T	CCDS9972.1																																																																																				0.438	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		58	39	1	0	1.87854e-15	0.00361	2.79671e-15	58	39				
KLC1	3831	broad.mit.edu	37	14	104129247	104129247	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:104129247C>T	ENST00000348520.6	+	5	1099	c.780C>T	c.(778-780)atC>atT	p.I260I	KLC1_ENST00000445352.4_Silent_p.I260I|KLC1_ENST00000452929.2_Silent_p.I260I|KLC1_ENST00000557575.1_Silent_p.I260I|KLC1_ENST00000555836.1_Silent_p.I260I|KLC1_ENST00000389744.4_Silent_p.I260I|RP11-73M18.2_ENST00000472726.2_Silent_p.I432I|KLC1_ENST00000347839.6_Silent_p.I260I|KLC1_ENST00000246489.7_Silent_p.I260I|KLC1_ENST00000380038.3_Silent_p.I260I|KLC1_ENST00000554280.1_Silent_p.I260I|KLC1_ENST00000334553.6_Silent_p.I260I|KLC1_ENST00000557450.1_Silent_p.I260I|KLC1_ENST00000553286.1_Silent_p.I260I	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	260					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TGCTCAACATCCTGGCCTTGG	0.493																																							uc001yno.2		NA																	0					0						c.(778-780)ATC>ATT		kinesin light chain 1 isoform 2							43.0	33.0	37.0					14																	104129247		2203	4300	6503	SO:0001819	synonymous_variant	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104129247C>T	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.780C>T	14.37:g.104129247C>T						KLC1_uc010tyd.1_Silent_p.I419I|KLC1_uc010tye.1_Silent_p.I256I|KLC1_uc001ynm.1_Silent_p.I260I|KLC1_uc001ynn.1_Silent_p.I256I|KLC1_uc010tyf.1_Silent_p.I260I	p.I260I	NM_182923	NP_891553	Q07866	KLC1_HUMAN			5	1088	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	260			TPR 2.		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Silent	SNP	ENST00000348520.6	37	c.780C>T	CCDS41996.1																																																																																				0.493	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		5	30	0	0	0	0.000602	0	5	30				
PPP1R13B	23368	broad.mit.edu	37	14	104206652	104206652	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:104206652C>T	ENST00000202556.9	-	12	2383	c.2101G>A	c.(2101-2103)Gcg>Acg	p.A701T	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.A120T|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	701	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGCCGGGGCGCGTTGGCCAGC	0.667																																							uc001yof.1		NA																	0				ovary(1)	1						c.(2101-2103)GCG>ACG		apoptosis-stimulating protein of p53, 1							46.0	56.0	53.0					14																	104206652		2097	4197	6294	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206652C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2101G>A	14.37:g.104206652C>T	ENSP00000202556:p.Ala701Thr					PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.A568T	p.A701T	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			12	2384	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	701			Pro-rich.		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.2101G>A	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	36	5.846817	0.97016	.	.	ENSG00000088808	ENST00000202556;ENST00000423488;ENST00000380023	T;T	0.61627	0.38;0.09	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75144	-0.3421	10	0.51188	T	0.08	.	19.843	0.96697	0.0:1.0:0.0:0.0	.	701	Q96KQ4	ASPP1_HUMAN	T	701;120;568	ENSP00000202556:A701T;ENSP00000395213:A120T	ENSP00000202556:A701T	A	-	1	0	PPP1R13B	103276405	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	7.813000	0.86123	2.679000	0.91253	0.655000	0.94253	GCG		0.667	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		7	133	0	0	0	0.001984	0	7	133				
NPAP1	23742	broad.mit.edu	37	15	24921213	24921213	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:24921213G>T	ENST00000329468.2	+	1	673	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	67					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CATCTTCGTCGCCCCTAAGAG	0.716																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(199-201)GCC>TCC		hypothetical protein LOC23742							18.0	22.0	21.0					15																	24921213		2195	4280	6475	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921213G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.199G>T	15.37:g.24921213G>T	ENSP00000333735:p.Ala67Ser						p.A67S	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	673	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	67						Missense_Mutation	SNP	ENST00000329468.2	37	c.199G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.09	2.133770	0.37630	.	.	ENSG00000185823	ENST00000329468	T	0.06371	3.31	2.21	-4.42	0.03579	.	2.595140	0.02034	N	0.048805	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	P	0.44659	0.84	B	0.33454	0.164	T	0.33979	-0.9847	10	0.31617	T	0.26	.	5.8048	0.18434	0.6322:0.1624:0.2054:0.0	.	67	Q9NZP6	CO002_HUMAN	S	67	ENSP00000333735:A67S	ENSP00000333735:A67S	A	+	1	0	C15orf2	22472306	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.646000	0.05403	-1.783000	0.01274	-0.350000	0.07774	GCC		0.716	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		16	36	1	0	5.01169e-05	0.00499	5.90266e-05	16	36				
PLCB2	5330	broad.mit.edu	37	15	40586571	40586571	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:40586571C>A	ENST00000260402.3	-	19	2206	c.1957G>T	c.(1957-1959)Ggc>Tgc	p.G653C	PLCB2_ENST00000557821.1_Missense_Mutation_p.G649C|PLCB2_ENST00000456256.2_Missense_Mutation_p.G653C	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	653	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				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)			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)		AGGAGGTAGCCGCTCTGCCCG	0.597																																							uc001zld.2		NA																	0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(1957-1959)GGC>TGC		phospholipase C, beta 2							70.0	77.0	74.0					15																	40586571		2154	4250	6404	SO:0001583	missense	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.chr15:40586571C>A		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.1957G>T	15.37:g.40586571C>A	ENSP00000260402:p.Gly653Cys					PLCB2_uc010bbo.2_Missense_Mutation_p.G649C|PLCB2_uc010ucm.1_Missense_Mutation_p.G653C	p.G653C	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	19	2258	-		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)	653			PI-PLC Y-box.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.1957G>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510292	0.85282	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	D;D	0.87029	-2.2;-2.2	4.69	4.69	0.59074	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	H	0.99475	4.585	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	0.98850	1.0758	10	0.87932	D	0	.	17.8067	0.88604	0.0:1.0:0.0:0.0	.	653;649;653	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	C	653	ENSP00000260402:G653C;ENSP00000411991:G653C	ENSP00000260402:G653C	G	-	1	0	PLCB2	38373863	1.000000	0.71417	0.979000	0.43373	0.845000	0.48019	7.651000	0.83577	2.450000	0.82876	0.561000	0.74099	GGC		0.597	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			7	33	1	0	0.00198382	0.001984	0.00222759	7	33				
ADAL	161823	broad.mit.edu	37	15	43632517	43632517	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:43632517C>A	ENST00000562188.1	+	4	326	c.310C>A	c.(310-312)Cta>Ata	p.L104I	ADAL_ENST00000428046.3_Missense_Mutation_p.L104I|ADAL_ENST00000389651.4_Missense_Mutation_p.L104I|ADAL_ENST00000422466.2_Missense_Mutation_p.L104I			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	104					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GTACCTGGAACTAAGGAGCAC	0.373																																							uc010udo.1		NA																	0					0						c.(310-312)CTA>ATA		adenosine deaminase-like isoform 1							96.0	100.0	99.0					15																	43632517		2201	4299	6500	SO:0001583	missense	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43632517C>A		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.310C>A	15.37:g.43632517C>A	ENSP00000456242:p.Leu104Ile					ADAL_uc001zrh.2_Missense_Mutation_p.L104I|ADAL_uc001zri.1_5'UTR	p.L104I	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	7	884	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	104					A6NHZ3|B4DQM8	Missense_Mutation	SNP	ENST00000562188.1	37	c.310C>A		.	.	.	.	.	.	.	.	.	.	C	18.94	3.729722	0.69074	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	D;D;D	0.95554	-3.74;-3.74;-3.74	5.78	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.79475	2.455	0.50813	D	0.999894	D;D	0.89917	0.999;1.0	D;D	0.91635	0.988;0.999	D	0.95026	0.8165	10	0.31617	T	0.26	-7.9185	9.0838	0.36567	0.1472:0.776:0.0:0.0768	.	104;104	B4DQM8;Q6DHV7-2	.;.	I	104	ENSP00000398744:L104I;ENSP00000413074:L104I;ENSP00000374302:L104I	ENSP00000374302:L104I	L	+	1	2	ADAL	41419809	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.189000	0.32114	0.790000	0.33803	-0.142000	0.14014	CTA		0.373	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		16	30	1	0	7.07596e-05	0.006122	8.29703e-05	16	30				
HDC	3067	broad.mit.edu	37	15	50545802	50545802	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:50545802G>T	ENST00000267845.3	-	7	1184	c.782C>A	c.(781-783)cCc>cAc	p.P261H	HDC_ENST00000543581.1_Missense_Mutation_p.P261H	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CTTACAGATGGGGCCCAGCTC	0.478																																					GBM(95;1627 1936 6910 9570)	GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	0				large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(781-783)CCC>CAC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						104.0	99.0	101.0					15																	50545802		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50545802G>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.782C>A	15.37:g.50545802G>T	ENSP00000267845:p.Pro261His					HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Missense_Mutation_p.P261H|HDC_uc010bet.1_Missense_Mutation_p.P182H	p.P261H	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	7	888	-		all_lung(180;0.0138)	261						Missense_Mutation	SNP	ENST00000267845.3	37	c.782C>A	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842585	0.91197	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.37915	1.17;1.17	5.18	5.18	0.71444	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.053858	0.85682	D	0.000000	T	0.64338	0.2589	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.983	T	0.68622	-0.5360	10	0.87932	D	0	-26.0919	18.8826	0.92362	0.0:0.0:1.0:0.0	.	261;261	B7ZM01;P19113	.;DCHS_HUMAN	H	261	ENSP00000267845:P261H;ENSP00000440252:P261H	ENSP00000267845:P261H	P	-	2	0	HDC	48333094	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.500000	0.97977	2.698000	0.92095	0.655000	0.94253	CCC		0.478	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			24	40	1	0	2.50493e-22	0.004656	3.97489e-22	24	40				
CYP1A2	1544	broad.mit.edu	37	15	75045584	75045584	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:75045584T>C	ENST00000343932.4	+	6	1289	c.1226T>C	c.(1225-1227)gTa>gCa	p.V409A		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	409					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	TGTGTCTTCGTAAACCAGTGG	0.522																																							uc002ayr.1		NA																	0				ovary(3)|breast(1)	4						c.(1225-1227)GTA>GCA		cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						145.0	98.0	114.0					15																	75045584		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75045584T>C	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1226T>C	15.37:g.75045584T>C	ENSP00000342007:p.Val409Ala						p.V409A	NM_000761	NP_000752	P05177	CP1A2_HUMAN			6	1290	+			409					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1226T>C	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.205039	0.58234	.	.	ENSG00000140505	ENST00000343932	T	0.71461	-0.57	5.02	5.02	0.67125	.	0.648787	0.16990	N	0.191326	T	0.79947	0.4534	M	0.71581	2.175	0.33894	D	0.637733	B	0.34313	0.448	P	0.48425	0.577	D	0.86463	0.1780	10	0.87932	D	0	.	14.8947	0.70636	0.0:0.0:0.0:1.0	.	409	P05177-2	.	A	409	ENSP00000342007:V409A	ENSP00000342007:V409A	V	+	2	0	CYP1A2	72832637	1.000000	0.71417	0.072000	0.20136	0.163000	0.22366	7.658000	0.83755	2.116000	0.64780	0.374000	0.22700	GTA		0.522	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		3	29	0	0	0	0.004672	0	3	29				
MMP25	64386	broad.mit.edu	37	16	3107375	3107375	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr16:3107375C>T	ENST00000336577.4	+	6	1140	c.903C>T	c.(901-903)ccC>ccT	p.P301P	RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	315					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CGCCCCAGCCCCCGGCCTCGC	0.652																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	uc002cth.2		NA																	0					0						c.(901-903)CCC>CCT		matrix metalloproteinase 25 preproprotein							58.0	67.0	64.0					16																	3107375		2197	4300	6497	SO:0001819	synonymous_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3107375C>T	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.903C>T	16.37:g.3107375C>T						uc002ctj.1_Intron	p.P301P	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN			6	1140	+			301					Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	c.903C>T	CCDS10492.1																																																																																				0.652	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		4	89	0	0	0	0.000602	0	4	89				
CYLD	1540	broad.mit.edu	37	16	50830353	50830353	+	Silent	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr16:50830353A>G	ENST00000427738.3	+	18	3010	c.2805A>G	c.(2803-2805)gcA>gcG	p.A935A	CYLD_ENST00000540145.1_Silent_p.A935A|CYLD_ENST00000568704.2_Silent_p.A750A|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Silent_p.A935A|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Silent_p.A932A|CYLD_ENST00000398568.2_Silent_p.A932A|CYLD_ENST00000569418.1_Silent_p.A932A			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	935	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGGCTGTGCACGAAGACTGC	0.468			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(2803-2805)GCA>GCG		ubiquitin carboxyl-terminal hydrolase CYLD							111.0	108.0	109.0					16																	50830353		1962	4155	6117	SO:0001819	synonymous_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50830353A>G	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2805A>G	16.37:g.50830353A>G						CYLD_uc002egq.1_Silent_p.A932A|CYLD_uc002egr.1_Silent_p.A932A	p.A935A	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			19	3220	+		all_cancers(37;0.0156)	935					O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	c.2805A>G	CCDS45482.1																																																																																				0.468	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			20	32	0	0	0	0.007413	0	20	32				
PHLPP2	23035	broad.mit.edu	37	16	71748668	71748668	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr16:71748668T>G	ENST00000568954.1	-	2	409	c.31A>C	c.(31-33)Aat>Cat	p.N11H	PHLPP2_ENST00000567016.1_Missense_Mutation_p.N46H|PHLPP2_ENST00000393524.2_Missense_Mutation_p.N11H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.N11H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.N11H			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	11					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTTCTCCTATTCAAACAATTT	0.388																																							uc002fax.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(31-33)AAT>CAT		PH domain and leucine rich repeat protein							116.0	94.0	102.0					16																	71748668		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71748668T>G	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.31A>C	16.37:g.71748668T>G	ENSP00000457991:p.Asn11His					PHLPP2_uc010cgf.2_Missense_Mutation_p.N11H|PHLPP2_uc002fay.1_Missense_Mutation_p.N11H	p.N11H	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			1	37	-			11					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.31A>C	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954038	0.34471	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.46063	1.33;1.42;0.88	5.67	4.51	0.55191	.	0.281552	0.38436	N	0.001695	T	0.28466	0.0704	N	0.16478	0.41	0.33242	D	0.557381	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.35126	-0.9801	10	0.51188	T	0.08	-5.0274	13.3927	0.60832	0.0:0.0:0.1396:0.8603	.	11;11	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	H	11	ENSP00000353610:N11H;ENSP00000348611:N11H;ENSP00000377159:N11H	ENSP00000348611:N11H	N	-	1	0	PHLPP2	70306169	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.277000	0.58939	2.156000	0.67533	0.533000	0.62120	AAT		0.388	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		22	21	0	0	0	0.00333	0	22	21				
CTC1	80169	broad.mit.edu	37	17	8132685	8132685	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:8132685T>G	ENST00000315684.8	-	19	3098	c.3091A>C	c.(3091-3093)Atc>Ctc	p.I1031L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1031					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ACAGAGACGATATGGCAAGAG	0.532																																							uc002gkq.3		NA																	0					0						c.(3091-3093)ATC>CTC		alpha accessory factor 132							128.0	132.0	130.0					17																	8132685		2034	4181	6215	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8132685T>G	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3091A>C	17.37:g.8132685T>G	ENSP00000313759:p.Ile1031Leu					C17orf68_uc010cnv.2_RNA	p.I1031L	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			19	3150	-			1031					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3091A>C	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	t	13.30	2.196774	0.38806	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.85258	-1.96;-1.96	5.56	-1.69	0.08186	.	0.365883	0.27604	N	0.018640	T	0.79969	0.4538	M	0.62723	1.935	0.09310	N	0.999996	B	0.27932	0.194	B	0.27715	0.082	T	0.71457	-0.4587	10	0.62326	D	0.03	-3.1646	10.2478	0.43352	0.0:0.6262:0.0:0.3738	.	1031	Q2NKJ3	CTC1_HUMAN	L	1031;996	ENSP00000313759:I1031L;ENSP00000396018:I996L	ENSP00000313759:I1031L	I	-	1	0	CTC1	8073410	0.296000	0.24398	0.342000	0.25602	0.435000	0.31806	-0.102000	0.10956	-0.207000	0.10187	-0.332000	0.08345	ATC		0.532	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		4	94	0	0	0	0.000248	0	4	94				
UBBP4	23666	broad.mit.edu	37	17	21731186	21731186	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:21731186A>G	ENST00000578713.1	+	1	492	c.488A>G	c.(487-489)aAg>aGg	p.K163R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.K163R|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CTGACCGGCAAGACCATCACC	0.532																																							uc002gyy.3		NA																	0					NA						c.(487-489)AAG>AGG		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001583	missense	0							g.chr17:21731186A>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.488A>G	17.37:g.21731186A>G	ENSP00000464265:p.Lys163Arg						p.K163R							2	613	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.488A>G																																																																																					0.532	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			10	83	0	0	0	0.000978	0	10	83				
ACACA	31	broad.mit.edu	37	17	35640264	35640264	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:35640264G>T	ENST00000394406.2	-	5	593	c.403C>A	c.(403-405)Cgg>Agg	p.R135R	ACACA_ENST00000353139.5_Silent_p.R172R|ACACA_ENST00000335166.5_Silent_p.R57R|ACACA_ENST00000360679.3_Silent_p.R77R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	135	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CGGATAGACCGCATGCATTTC	0.448																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(403-405)CGG>AGG		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						123.0	101.0	108.0					17																	35640264		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35640264G>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.403C>A	17.37:g.35640264G>T						ACACA_uc002hnk.2_Silent_p.R57R|ACACA_uc002hnl.2_Silent_p.R77R|ACACA_uc002hnn.2_Silent_p.R135R|ACACA_uc002hno.2_Silent_p.R172R|ACACA_uc010cuz.2_Silent_p.R135R|ACACA_uc002hnq.2_Silent_p.R57R	p.R135R	NM_198836	NP_942133	Q13085	ACACA_HUMAN			5	594	-		Breast(25;0.00157)|Ovarian(249;0.15)	135			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.403C>A	CCDS11317.1																																																																																				0.448	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		13	44	1	0	6.31663e-08	0.003163	8.24584e-08	13	44				
SAMD14	201191	broad.mit.edu	37	17	48195572	48195572	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:48195572C>T	ENST00000330175.4	-	3	480	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.A55T	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	55										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GCGGAGCTGGCACTGTCCCGA	0.637																																							uc002iqg.2		NA																	0					0						c.(163-165)GCC>ACC		sterile alpha motif domain containing 14							49.0	53.0	52.0					17																	48195572		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48195572C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.163G>A	17.37:g.48195572C>T	ENSP00000329144:p.Ala55Thr					SAMD14_uc002iqd.2_5'Flank|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqf.2_Missense_Mutation_p.A55T	p.A55T	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN			3	462	-			55					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.163G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800443	0.70567	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.29	4.3	0.51218	.	0.179597	0.35151	N	0.003415	T	0.37461	0.1004	L	0.54323	1.7	0.28318	N	0.922368	P;B	0.39480	0.675;0.011	B;B	0.36534	0.227;0.011	T	0.35992	-0.9766	9	0.52906	T	0.07	-11.5237	11.5185	0.50536	0.0:0.9136:0.0:0.0864	.	55;55	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	T	55;67;55	.	ENSP00000285206:A67T	A	-	1	0	SAMD14	45550571	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	1.884000	0.39668	1.191000	0.43056	0.557000	0.71058	GCC		0.637	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		34	47	0	0	0	0.005524	0	34	47				
SCPEP1	59342	broad.mit.edu	37	17	55083594	55083594	+	Nonstop_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:55083594T>C	ENST00000262288.3	+	13	1412	c.1357T>C	c.(1357-1359)Tag>Cag	p.*453Q		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	0					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCAGCAAGAATAGGATGGATG	0.512																																							uc002iuv.3		NA																	0				skin(1)	1						c.(1357-1359)TAG>CAG		serine carboxypeptidase 1 precursor							203.0	182.0	189.0					17																	55083594		2203	4300	6503	SO:0001578	stop_lost	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55083594T>C	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.1357T>C	17.37:g.55083594T>C	ENSP00000262288:p.*453Glnext*7					SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Nonstop_Mutation_p.*403Q	p.*453Q	NM_021626	NP_067639	Q9HB40	RISC_HUMAN			13	1410	+	Breast(9;2.86e-08)		453					Q96A94|Q9H3F0	Nonstop_Mutation	SNP	ENST00000262288.3	37	c.1357T>C	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407157	0.25378	.	.	ENSG00000121064	ENST00000262288	.	.	.	5.71	2.05	0.26809	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4522	0.32877	0.0:0.0796:0.4482:0.4722	.	.	.	.	Q	453	.	.	X	+	1	0	SCPEP1	52438593	0.008000	0.16893	0.096000	0.21009	0.246000	0.25737	0.296000	0.19083	0.386000	0.24997	0.482000	0.46254	TAG		0.512	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		22	85	0	0	0	0.002299	0	22	85				
LPIN2	9663	broad.mit.edu	37	18	2922113	2922113	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:2922113G>A	ENST00000261596.4	-	17	2497	c.2259C>T	c.(2257-2259)gaC>gaT	p.D753D	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	753	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTGTGCCCTTGTCATTGACCC	0.607																																							uc002klo.2		NA																	0				ovary(1)|skin(1)	2						c.(2257-2259)GAC>GAT		lipin 2							37.0	40.0	39.0					18																	2922113		2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2922113G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2259C>T	18.37:g.2922113G>A							p.D753D	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	17	2498	-			753			C-LIP.		A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.2259C>T	CCDS11829.1																																																																																				0.607	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		7	51	0	0	0	0.001984	0	7	51				
DSC3	1825	broad.mit.edu	37	18	28588372	28588372	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:28588372A>T	ENST00000360428.4	-	10	1463	c.1383T>A	c.(1381-1383)caT>caA	p.H461Q	DSC3_ENST00000434452.1_Missense_Mutation_p.H461Q	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	461	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GATCCCTCACATGAACTGTAA	0.473																																							uc002kwj.3		NA																	0				ovary(2)|skin(2)	4						c.(1381-1383)CAT>CAA		desmocollin 3 isoform Dsc3a preproprotein							109.0	99.0	103.0					18																	28588372		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28588372A>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1383T>A	18.37:g.28588372A>T	ENSP00000353608:p.His461Gln					DSC3_uc002kwi.3_Missense_Mutation_p.H461Q	p.H461Q	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		10	1538	-			461			Cadherin 3.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1383T>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429601	0.25726	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.37411	1.2;1.2	5.34	-10.7	0.00240	Cadherin (3);Cadherin-like (2);	0.801241	0.10158	N	0.708680	T	0.12561	0.0305	N	0.04508	-0.205	0.19945	N	0.999949	B;B	0.14438	0.0;0.01	B;B	0.12837	0.006;0.008	T	0.30297	-0.9983	10	0.34782	T	0.22	.	9.4443	0.38688	0.2419:0.0:0.5062:0.2518	.	461;461	Q14574;Q14574-2	DSC3_HUMAN;.	Q	461	ENSP00000353608:H461Q;ENSP00000392068:H461Q	ENSP00000353608:H461Q	H	-	3	2	DSC3	26842370	0.000000	0.05858	0.003000	0.11579	0.765000	0.43378	-1.251000	0.02882	-2.706000	0.00396	-0.417000	0.06048	CAT		0.473	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		26	24	0	0	0	0.00333	0	26	24				
DSG3	1830	broad.mit.edu	37	18	29046694	29046694	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:29046694T>G	ENST00000257189.4	+	11	1696	c.1613T>G	c.(1612-1614)gTa>gGa	p.V538G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	538					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGCCTGCCGTATGGAGTATC	0.408																																							uc002kws.2		NA																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1612-1614)GTA>GGA		desmoglein 3 preproprotein							87.0	82.0	84.0					18																	29046694		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29046694T>G	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1613T>G	18.37:g.29046694T>G	ENSP00000257189:p.Val538Gly						p.V538G	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1722	+			538			Extracellular (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1613T>G	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	T	9.617	1.132684	0.21041	.	.	ENSG00000134757	ENST00000257189	T	0.58506	0.33	5.82	3.42	0.39159	.	1.281300	0.05828	N	0.616991	T	0.46600	0.1401	L	0.50333	1.59	0.09310	N	1	P	0.36789	0.57	B	0.28465	0.09	T	0.32025	-0.9922	10	0.23302	T	0.38	.	6.2546	0.20867	0.0:0.1479:0.1347:0.7174	.	538	P32926	DSG3_HUMAN	G	538	ENSP00000257189:V538G	ENSP00000257189:V538G	V	+	2	0	DSG3	27300692	0.000000	0.05858	0.046000	0.18839	0.173000	0.22820	-0.809000	0.04510	1.037000	0.40024	0.528000	0.53228	GTA		0.408	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		12	50	0	0	0	0.001368	0	12	50				
KLHL14	57565	broad.mit.edu	37	18	30349741	30349741	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:30349741G>T	ENST00000359358.4	-	2	1252	c.814C>A	c.(814-816)Ccg>Acg	p.P272T	KLHL14_ENST00000358095.4_Missense_Mutation_p.P272T|AC012123.1_ENST00000426194.1_5'Flank	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	272	BACK.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACCAGCTCCGGGGCCGGGATG	0.637																																							uc002kxm.1		NA																	0				ovary(1)	1						c.(814-816)CCG>ACG		kelch-like 14							38.0	43.0	41.0					18																	30349741		2202	4298	6500	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349741G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.814C>A	18.37:g.30349741G>T	ENSP00000352314:p.Pro272Thr						p.P272T	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	1202	-			272			BACK.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.814C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825903	0.32237	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.66995	-0.24;-0.24	4.91	4.91	0.64330	BTB/Kelch-associated (2);	0.102926	0.64402	D	0.000002	T	0.60104	0.2243	N	0.03050	-0.425	0.80722	D	1	D	0.63046	0.992	D	0.63957	0.92	T	0.65849	-0.6068	10	0.25106	T	0.35	.	17.0807	0.86598	0.0:0.0:1.0:0.0	.	272	Q9P2G3	KLH14_HUMAN	T	272	ENSP00000352314:P272T;ENSP00000350808:P272T	ENSP00000350808:P272T	P	-	1	0	KLHL14	28603739	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.629000	0.74267	2.282000	0.76494	0.455000	0.32223	CCG		0.637	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			16	40	1	0	2.31682e-05	0.003163	2.79072e-05	16	40				
ASXL3	80816	broad.mit.edu	37	18	31326095	31326095	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:31326095G>A	ENST00000269197.5	+	12	6283	c.6283G>A	c.(6283-6285)Gaa>Aaa	p.E2095K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2095					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGCAGCTGTGAACTGGGCAT	0.408																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(6283-6285)GAA>AAA		additional sex combs like 3							97.0	97.0	97.0					18																	31326095		1860	4104	5964	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326095G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6283G>A	18.37:g.31326095G>A	ENSP00000269197:p.Glu2095Lys					ASXL3_uc002kxq.2_Missense_Mutation_p.E1802K	p.E2095K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6338	+			2095					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6283G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166424	0.78339	.	.	ENSG00000141431	ENST00000269197	T	0.18810	2.19	5.62	5.62	0.85841	.	.	.	.	.	T	0.21145	0.0509	N	0.24115	0.695	0.45899	D	0.998743	P	0.52316	0.952	P	0.44518	0.452	T	0.01341	-1.1380	9	0.66056	D	0.02	.	19.6676	0.95898	0.0:0.0:1.0:0.0	.	2095	Q9C0F0	ASXL3_HUMAN	K	2095	ENSP00000269197:E2095K	ENSP00000269197:E2095K	E	+	1	0	ASXL3	29580093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.461000	0.66699	2.656000	0.90262	0.563000	0.77884	GAA		0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			46	40	0	0	0	0.00361	0	46	40				
ASXL3	80816	broad.mit.edu	37	18	31326451	31326451	+	Silent	SNP	C	C	T	rs201578514		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:31326451C>T	ENST00000269197.5	+	12	6639	c.6639C>T	c.(6637-6639)tgC>tgT	p.C2213C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACTGAAATGCTCTTGCCGGC	0.522																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(6637-6639)TGC>TGT		additional sex combs like 3							90.0	93.0	92.0					18																	31326451		1994	4179	6173	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326451C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6639C>T	18.37:g.31326451C>T						ASXL3_uc002kxq.2_Silent_p.C1920C	p.C2213C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6694	+			2213			PHD-type; atypical.		Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.6639C>T	CCDS45847.1																																																																																				0.522	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			34	28	0	0	0	0.002445	0	34	28				
ASXL3	80816	broad.mit.edu	37	18	31326453	31326453	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:31326453C>T	ENST00000269197.5	+	12	6641	c.6641C>T	c.(6640-6642)tCt>tTt	p.S2214F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGAAATGCTCTTGCCGGCTG	0.517																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(6640-6642)TCT>TTT		additional sex combs like 3							90.0	93.0	92.0					18																	31326453		1995	4181	6176	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326453C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6641C>T	18.37:g.31326453C>T	ENSP00000269197:p.Ser2214Phe					ASXL3_uc002kxq.2_Missense_Mutation_p.S1921F	p.S2214F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6696	+			2214			PHD-type; atypical.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6641C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285412	0.80803	.	.	ENSG00000141431	ENST00000269197	T	0.17854	2.25	6.17	6.17	0.99709	.	.	.	.	.	T	0.39835	0.1093	L	0.46157	1.445	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.01464	-1.1348	9	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2214	Q9C0F0	ASXL3_HUMAN	F	2214	ENSP00000269197:S2214F	ENSP00000269197:S2214F	S	+	2	0	ASXL3	29580451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.567000	0.60850	2.941000	0.99782	0.655000	0.94253	TCT		0.517	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			36	31	0	0	0	0.003271	0	36	31				
STK11	6794	broad.mit.edu	37	19	1220370	1220370	+	Splice_Site	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:1220370A>T	ENST00000326873.7	+	4	1637		c.e4-1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGCCCGCAGGTACTTCTG	0.652		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		23	Whole gene deletion(20)|Unknown(3)	p.0?(19)|p.?(3)	cervix(16)|lung(3)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266	GRCh37	CS012224	STK11	S		c.e4-2		serine/threonine protein kinase 11							37.0	41.0	39.0					19																	1220370		2066	4220	6286	SO:0001630	splice_region_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1220370A>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.465-1A>T	19.37:g.1220370A>T		TSP Lung(3;<1E-08)					p.G155_splice	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1580	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)						B2RBX7|E7EW76	Splice_Site	SNP	ENST00000326873.7	37	c.465_splice	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516590	0.64634	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	5.54	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.112	0.53844	0.8564:0.1436:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK11	1171370	1.000000	0.71417	0.818000	0.32626	0.727000	0.41649	9.192000	0.94947	0.922000	0.37019	0.418000	0.28097	.		0.652	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	Intron	15	1	0	0	0	0.004007	0	15	1				
MUC16	94025	broad.mit.edu	37	19	9061703	9061703	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:9061703C>A	ENST00000397910.4	-	3	25946	c.25743G>T	c.(25741-25743)gaG>gaT	p.E8581D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8583	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGATGCTCTCTGGTAATG	0.522																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25741-25743)GAG>GAT		mucin 16							92.0	89.0	90.0					19																	9061703		2083	4207	6290	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061703C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25743G>T	19.37:g.9061703C>A	ENSP00000381008:p.Glu8581Asp						p.E8581D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25947	-			8583			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25743G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.285	-0.146230	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.66	-5.33	0.02713	.	.	.	.	.	T	0.09247	0.0228	N	0.03608	-0.345	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.30387	-0.9980	8	0.87932	D	0	.	5.1531	0.15021	0.1404:0.1892:0.5616:0.1088	.	8581	B5ME49	.	D	8581	ENSP00000381008:E8581D	ENSP00000381008:E8581D	E	-	3	2	MUC16	8922703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.942000	0.01541	-1.655000	0.01497	-1.961000	0.00478	GAG		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	30	1	0	3.27435e-08	0.00245	4.31693e-08	15	30				
MUC16	94025	broad.mit.edu	37	19	9082974	9082974	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:9082974G>T	ENST00000397910.4	-	1	9044	c.8841C>A	c.(8839-8841)gcC>gcA	p.A2947A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2948	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGCACTTATGGCCTTTGTGG	0.493																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8839-8841)GCC>GCA		mucin 16							126.0	118.0	121.0					19																	9082974		1974	4178	6152	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082974G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8841C>A	19.37:g.9082974G>T							p.A2947A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	9045	-			2948			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.8841C>A	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	65	1	0	1.99824e-07	0.00499	2.57055e-07	18	65				
PKN1	5585	broad.mit.edu	37	19	14569148	14569149	+	Nonsense_Mutation	DNP	GC	GC	CT			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:14569148_14569149GC>CT	ENST00000242783.6	+	9	1545_1546	c.1380_1381GC>CT	c.(1378-1383)gtGCag>gtCTag	p.Q461*	CTC-548K16.6_ENST00000589702.1_RNA|PKN1_ENST00000342216.4_Nonsense_Mutation_p.Q467*	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	461	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGCATGAGGTGCAGCTGGACAT	0.569																																					NSCLC(185;2539 2965 10733 52867)	NSCLC(185;2539 2965 10733 52867)	uc002myp.2		NA																	0				ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1378-1383)GTGCAG>GTCTAG		protein kinase N1 isoform 2																																				SO:0001587	stop_gained	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14569148_14569149GC>CT	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	Exception_encountered	19.37:g.14569148_14569149delinsCT	ENSP00000242783:p.Gln461*					PKN1_uc002myq.2_Nonsense_Mutation_p.Q467*	p.Q461*	NM_002741	NP_002732	Q16512	PKN1_HUMAN			9	1548_1549	+			461			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Nonsense_Mutation	DNP	ENST00000242783.6	37	c.1380_1381GC>CT	CCDS42513.1																																																																																				0.569	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		11	19	0	0	0	0.004672	0	11	19				
ZNF676	163223	broad.mit.edu	37	19	22363718	22363718	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:22363718G>T	ENST00000397121.2	-	3	1118	c.801C>A	c.(799-801)acC>acA	p.T267T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGTATTAAGGGTTGAGACGC	0.388																																							uc002nqs.1		NA																	0					0						c.(799-801)ACC>ACA		zinc finger protein 676							89.0	96.0	93.0					19																	22363718		2153	4272	6425	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363718G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.801C>A	19.37:g.22363718G>T							p.T267T	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1119	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	267			C2H2-type 4.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.801C>A	CCDS42539.1																																																																																				0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		30	10	1	0	5.60225e-13	0.001786	7.9817e-13	30	10				
ZNF676	163223	broad.mit.edu	37	19	22379435	22379435	+	Start_Codon_SNP	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:22379435T>A	ENST00000397121.2	-	1	318	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	1	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCTAACATCACATTCCTA	0.403																																							uc002nqs.1		NA																	0					0						c.(1-3)ATG>TTG		zinc finger protein 676							133.0	143.0	140.0					19																	22379435		2203	4300	6503	SO:0001582	initiator_codon_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22379435T>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1A>T	19.37:g.22379435T>A	ENSP00000380310:p.Met1Leu						p.M1L	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			1	319	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	1			KRAB.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1A>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.761	0.324824	0.10900	.	.	ENSG00000196109	ENST00000397121	T	0.01076	5.37	0.793	0.793	0.18632	Krueppel-associated box (3);	.	.	.	.	T	0.01156	0.0038	.	.	.	0.53005	D	0.99996	B	0.22080	0.064	B	0.26202	0.067	T	0.56141	-0.8028	8	0.87932	D	0	.	3.7137	0.08430	0.0:0.0:0.0:1.0	.	1	Q8N7Q3	ZN676_HUMAN	L	1	ENSP00000380310:M1L	ENSP00000380310:M1L	M	-	1	0	ZNF676	22171275	0.489000	0.26004	0.457000	0.27056	0.458000	0.32498	0.783000	0.26802	0.165000	0.19558	0.163000	0.16589	ATG		0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	Missense_Mutation	60	21	0	0	0	0.00361	0	60	21				
LGALS4	3960	broad.mit.edu	37	19	39292738	39292738	+	Missense_Mutation	SNP	C	C	T	rs371360675		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:39292738C>T	ENST00000307751.4	-	9	1196	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	240	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTTGCCCATGCGGGGATTAAT	0.567																																							uc002ojg.2		NA																	0				ovary(1)|skin(1)	2						c.(718-720)CGC>CAC		galectin-4		C	HIS/ARG	0,4406		0,0,2203	64.0	57.0	60.0		719	4.9	0.9	19		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGALS4	NM_006149.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	240/324	39292738	1,13005	2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292738C>T		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.719G>A	19.37:g.39292738C>T	ENSP00000302100:p.Arg240His						p.R240H	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		9	933	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		240			Galectin 2.			Missense_Mutation	SNP	ENST00000307751.4	37	c.719G>A	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493261	0.84962	0.0	1.16E-4	ENSG00000171747	ENST00000307751	T	0.22134	1.97	4.89	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.118558	0.53938	D	0.000041	T	0.56156	0.1966	M	0.90870	3.155	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.68221	-0.5466	10	0.87932	D	0	-24.6761	16.7942	0.85597	0.0:1.0:0.0:0.0	.	240	P56470	LEG4_HUMAN	H	240	ENSP00000302100:R240H	ENSP00000302100:R240H	R	-	2	0	LGALS4	43984578	1.000000	0.71417	0.877000	0.34402	0.699000	0.40488	6.382000	0.73167	2.252000	0.74401	0.591000	0.81541	CGC		0.567	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		22	20	0	0	0	0.001523	0	22	20				
PLEKHG2	64857	broad.mit.edu	37	19	39911746	39911746	+	Silent	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:39911746A>T	ENST00000409794.3	+	15	2329	c.1479A>T	c.(1477-1479)ccA>ccT	p.P493P	PLEKHG2_ENST00000378550.1_Silent_p.P493P|PLEKHG2_ENST00000409797.2_Silent_p.P493P|PLEKHG2_ENST00000425673.1_Intron|PLEKHG2_ENST00000458508.2_Silent_p.P434P	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	493					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCATGTTCCCACAGAACGGTC	0.637																																							uc010xuz.1		NA																	0				skin(2)|pancreas(1)|breast(1)	4						c.(1477-1479)CCA>CCT		common-site lymphoma/leukemia guanine nucleotide							63.0	51.0	55.0					19																	39911746		2203	4300	6503	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39911746A>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1479A>T	19.37:g.39911746A>T						PLEKHG2_uc010xuy.1_Silent_p.P434P|PLEKHG2_uc002olj.2_Silent_p.P493P|PLEKHG2_uc010xva.1_Intron	p.P493P	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		15	1804	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		493					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.1479A>T	CCDS33022.2																																																																																				0.637	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		11	9	0	0	0	0.000978	0	11	9				
PSG7	5676	broad.mit.edu	37	19	43439788	43439788	+	RNA	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:43439788G>T	ENST00000406070.2	-	0	294				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CTTTGTACCAGATGTGGCCAG	0.438																																							uc002ovl.3		NA																	0					0						c.(196-198)ATC>ATA		pregnancy specific beta-1-glycoprotein 7							150.0	158.0	155.0					19																	43439788		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43439788G>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439788G>T						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	p.I66I	NM_002783	NP_002774	Q13046	PSG7_HUMAN			2	300	-		Prostate(69;0.00682)	66			Ig-like V-type.		Q15232	Silent	SNP	ENST00000406070.2	37	c.198C>A																																																																																					0.438	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		116	83	1	0	1.39691e-52	0.00361	2.37295e-52	116	83				
ZNF234	10780	broad.mit.edu	37	19	44661481	44661481	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:44661481C>T	ENST00000426739.2	+	6	1570	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	ZNF234_ENST00000592437.1_Missense_Mutation_p.R438C	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TAAAGCCTTCCGTCAGAGTTC	0.418																																							uc002oym.2		NA																	0					0						c.(1312-1314)CGT>TGT		zinc finger protein 234							60.0	61.0	61.0					19																	44661481		2072	4242	6314	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661481C>T	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1312C>T	19.37:g.44661481C>T	ENSP00000400878:p.Arg438Cys					ZNF234_uc002oyl.3_Missense_Mutation_p.R438C	p.R438C	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	1619	+		Prostate(69;0.0435)	438			C2H2-type 11.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1312C>T	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787923	0.49997	.	.	ENSG00000167380	ENST00000426739	T	0.07444	3.19	3.94	-3.5	0.04710	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	M	0.64170	1.965	0.09310	N	1	D	0.76494	0.999	P	0.57679	0.825	T	0.17319	-1.0373	9	0.59425	D	0.04	.	0.8763	0.01224	0.3896:0.1956:0.238:0.1768	.	438	Q14588	ZN234_HUMAN	C	438	ENSP00000400878:R438C	ENSP00000400878:R438C	R	+	1	0	ZNF226	49353321	0.000000	0.05858	0.359000	0.25824	0.995000	0.86356	-1.171000	0.03115	-0.230000	0.09840	0.591000	0.81541	CGT		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			6	33	0	0	0	0.001168	0	6	33				
ZNF432	9668	broad.mit.edu	37	19	52537513	52537513	+	Silent	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:52537513A>G	ENST00000594154.1	-	5	1631	c.1419T>C	c.(1417-1419)atT>atC	p.I473I	ZNF432_ENST00000221315.5_Silent_p.I473I			O94892	ZN432_HUMAN	zinc finger protein 432	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCTGATGTACAATCAGCCGAC	0.463																																							uc002pyk.2		NA																	0				breast(2)|pancreas(1)	3						c.(1417-1419)ATT>ATC		zinc finger protein 432							67.0	62.0	64.0					19																	52537513		2203	4300	6503	SO:0001819	synonymous_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537513A>G	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1419T>C	19.37:g.52537513A>G							p.I473I	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1737	-		all_neural(266;0.117)	473			C2H2-type 10.			Silent	SNP	ENST00000594154.1	37	c.1419T>C	CCDS12848.1																																																																																				0.463	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		8	28	0	0	0	0.00308	0	8	28				
ZNF480	147657	broad.mit.edu	37	19	52826033	52826033	+	Silent	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:52826033T>G	ENST00000595962.1	+	5	1596	c.1530T>G	c.(1528-1530)ccT>ccG	p.P510P	ZNF480_ENST00000335090.6_Silent_p.P433P|ZNF480_ENST00000334564.7_Silent_p.P467P|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GAGAGAAACCTTACAAATGTA	0.393																																							uc010ydl.1		NA																	0				large_intestine(1)	1						c.(1528-1530)CCT>CCG		zinc finger protein 480							68.0	66.0	67.0					19																	52826033		2203	4300	6503	SO:0001819	synonymous_variant	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52826033T>G	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1530T>G	19.37:g.52826033T>G						ZNF480_uc002pyv.2_Silent_p.P433P|ZNF480_uc010ydm.1_Silent_p.P467P|ZNF480_uc010epn.2_Silent_p.P341P|uc002pyw.1_Intron	p.P510P	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1600	+			510					Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	ENST00000595962.1	37	c.1530T>G	CCDS12850.2																																																																																				0.393	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		6	18	0	0	0	0.001984	0	6	18				
VN1R2	317701	broad.mit.edu	37	19	53761983	53761983	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:53761983T>A	ENST00000341702.3	+	1	439	c.355T>A	c.(355-357)Tac>Aac	p.Y119N		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	119					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTTTAGGGGATACAAGCCAAG	0.428																																							uc002qbi.2		NA																	0					0						c.(355-357)TAC>AAC		vomeronasal 1 receptor 2							82.0	87.0	85.0					19																	53761983		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53761983T>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.355T>A	19.37:g.53761983T>A	ENSP00000351244:p.Tyr119Asn						p.Y119N	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	439	+			119			Extracellular (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.355T>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	T	5.753	0.323360	0.10900	.	.	ENSG00000196131	ENST00000341702	T	0.37235	1.21	2.94	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.23532	0.0569	N	0.25380	0.74	0.09310	N	1	P	0.34757	0.467	B	0.37304	0.246	T	0.16041	-1.0416	9	0.30854	T	0.27	.	4.766	0.13132	0.0:0.2698:0.0:0.7302	.	119	Q8NFZ6	VN1R2_HUMAN	N	119	ENSP00000351244:Y119N	ENSP00000351244:Y119N	Y	+	1	0	VN1R2	58453795	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.611000	0.05622	0.552000	0.29026	-0.344000	0.07964	TAC		0.428	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		11	6	0	0	0	0.001368	0	11	6				
ZNF835	90485	broad.mit.edu	37	19	57175427	57175427	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:57175427G>A	ENST00000537055.2	-	2	1371	c.1140C>T	c.(1138-1140)caC>caT	p.H380H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCACGAGGCGGTGCTGGAGGA	0.672																																							uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(1204-1206)CAC>CAT		zinc finger protein 835							25.0	27.0	26.0					19																	57175427		2194	4292	6486	SO:0001819	synonymous_variant	90485							g.chr19:57175427G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1140C>T	19.37:g.57175427G>A						ZNF835_uc010ygn.1_Silent_p.H380H	p.H402H	NM_001005850	NP_001005850					2	1206	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1206C>T	CCDS56105.1																																																																																				0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		3	24	0	0	0	0.004672	0	3	24				
VSNL1	7447	broad.mit.edu	37	2	17836533	17836533	+	Missense_Mutation	SNP	C	C	G	rs146113368		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:17836533C>G	ENST00000406397.1	+	4	973	c.448C>G	c.(448-450)Cga>Gga	p.R150G	VSNL1_ENST00000295156.4_Missense_Mutation_p.R150G|VSNL1_ENST00000404666.2_Missense_Mutation_p.R150G			P62760	VISL1_HUMAN	visinin-like 1	150	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCTGAGCAGCGAGTAGACAA	0.413																																							uc002rcm.2		NA																	0				ovary(1)	1						c.(448-450)CGA>GGA		visinin-like 1							128.0	111.0	117.0					2																	17836533		2203	4300	6503	SO:0001583	missense	7447						calcium ion binding	g.chr2:17836533C>G		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.448C>G	2.37:g.17836533C>G	ENSP00000384719:p.Arg150Gly						p.R150G	NM_003385	NP_003376	P62760	VISL1_HUMAN			4	832	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		150			EF-hand 4.		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	ENST00000406397.1	37	c.448C>G	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352781	0.61293	.	.	ENSG00000163032	ENST00000404666;ENST00000295156;ENST00000406397	T;T;T	0.67345	-0.26;-0.26;-0.26	5.58	4.64	0.57946	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	M	0.90483	3.12	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.86688	0.1921	10	0.87932	D	0	.	13.1382	0.59421	0.2802:0.7198:0.0:0.0	.	150	P62760	VISL1_HUMAN	G	150	ENSP00000384014:R150G;ENSP00000295156:R150G;ENSP00000384719:R150G	ENSP00000295156:R150G	R	+	1	2	VSNL1	17700014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.116000	0.50399	2.623000	0.88846	0.650000	0.86243	CGA		0.413	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		14	32	0	0	0	0.001855	0	14	32				
SFXN5	94097	broad.mit.edu	37	2	73268002	73268002	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:73268002G>A	ENST00000272433.2	-	3	360	c.230C>T	c.(229-231)cCg>cTg	p.P77L	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Missense_Mutation_p.P77L	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	77					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GGTGACCCCCGGGCGCAGGGT	0.557																																							uc002siq.2		NA																	0				ovary(1)	1						c.(229-231)CCG>CTG		sideroflexin 5							46.0	45.0	45.0					2																	73268002		2203	4300	6503	SO:0001583	missense	94097				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr2:73268002G>A	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.230C>T	2.37:g.73268002G>A	ENSP00000272433:p.Pro77Leu					SFXN5_uc002sio.2_5'UTR|SFXN5_uc010yrc.1_5'UTR|SFXN5_uc002sip.2_RNA|SFXN5_uc010fet.2_Missense_Mutation_p.P77L	p.P77L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN			3	361	-			77					A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	ENST00000272433.2	37	c.230C>T	CCDS1922.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672170	0.47781	.	.	ENSG00000144040	ENST00000272433;ENST00000410065;ENST00000442582	T;T;T	0.32988	1.43;1.43;1.43	5.36	5.36	0.76844	.	0.050042	0.85682	D	0.000000	T	0.32315	0.0825	M	0.63843	1.955	0.80722	D	1	B;B	0.28128	0.201;0.068	B;B	0.20184	0.028;0.019	T	0.08046	-1.0741	10	0.49607	T	0.09	-19.3327	14.9562	0.71116	0.0:0.0:1.0:0.0	.	77;77	B8ZZJ6;Q8TD22	.;SFXN5_HUMAN	L	77	ENSP00000272433:P77L;ENSP00000387076:P77L;ENSP00000396825:P77L	ENSP00000272433:P77L	P	-	2	0	SFXN5	73121510	1.000000	0.71417	0.896000	0.35187	0.776000	0.43924	5.705000	0.68355	2.698000	0.92095	0.655000	0.94253	CCG		0.557	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579		4	31	0	0	0	0.000602	0	4	31				
ALMS1	7840	broad.mit.edu	37	2	73681086	73681086	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:73681086T>G	ENST00000264448.6	+	8	7540	c.7429T>G	c.(7429-7431)Tca>Gca	p.S2477A	ALMS1-IT1_ENST00000441587.2_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.S2435A|ALMS1_ENST00000377715.1_Missense_Mutation_p.S2477A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2477					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGTGTAGATTCACTGGCTGC	0.448																																							uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(7435-7437)TCA>GCA		Alstrom syndrome 1							118.0	117.0	117.0					2																	73681086		1947	4144	6091	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73681086T>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7429T>G	2.37:g.73681086T>G	ENSP00000264448:p.Ser2477Ala					ALMS1_uc002sjf.1_Missense_Mutation_p.S2435A|ALMS1_uc002sjg.2_Missense_Mutation_p.S1865A|ALMS1_uc002sjh.1_Missense_Mutation_p.S1865A	p.S2479A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	7546	+			2477					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.7435T>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.479410	0.63849	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.28255	2.55;2.55;1.62	5.9	5.9	0.94986	.	0.000000	0.41294	D	0.000908	T	0.42426	0.1202	L	0.28115	0.83	0.35889	D	0.829544	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.996	T	0.54853	-0.8231	10	0.87932	D	0	.	12.7235	0.57156	0.0:0.0:0.0:1.0	.	2477;2435;2477	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	A	2435;2477;2477	ENSP00000386627:S2435A;ENSP00000264448:S2477A;ENSP00000366944:S2477A	ENSP00000264448:S2477A	S	+	1	0	ALMS1	73534594	1.000000	0.71417	0.998000	0.56505	0.678000	0.39670	4.517000	0.60503	2.264000	0.75181	0.533000	0.62120	TCA		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	24	0	0	0	0.001168	0	6	24				
MTHFD2	10797	broad.mit.edu	37	2	74441254	74441254	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:74441254G>A	ENST00000394053.2	+	8	1018	c.938G>A	c.(937-939)gGc>gAc	p.G313D	SLC4A5_ENST00000483195.1_5'Flank|MTHFD2_ENST00000394050.3_Missense_Mutation_p.G149D|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.G230D|MTHFD2_ENST00000264090.4_Missense_Mutation_p.G211D|MTHFD2_ENST00000409804.1_Missense_Mutation_p.G185D	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	313					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GGAGGTGTTGGCCCCATGACA	0.463																																							uc002skk.2		NA																	0					0						c.(937-939)GGC>GAC		methylenetetrahydrofolate dehydrogenase 2	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						102.0	110.0	107.0					2																	74441254		2064	4237	6301	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74441254G>A	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.938G>A	2.37:g.74441254G>A	ENSP00000377617:p.Gly313Asp					SLC4A5_uc002skl.2_Intron|MTHFD2_uc002skj.2_Missense_Mutation_p.G211D|MTHFD2_uc010yro.1_Missense_Mutation_p.G211D|MTHFD2_uc010ffb.2_Missense_Mutation_p.G230D|MTHFD2_uc010yrp.1_Missense_Mutation_p.G149D	p.G313D	NM_006636	NP_006627	P13995	MTDC_HUMAN			8	1017	+			313					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.938G>A	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	G	32	5.117770	0.94385	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;0.48	5.58	5.58	0.84498	Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site (1);Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.94766	0.7940	10	0.87932	D	0	.	17.4533	0.87599	0.0:0.0:1.0:0.0	.	230;313	B8ZZU9;P13995	.;MTDC_HUMAN	D	313;185;211;149;230	ENSP00000377617:G313D;ENSP00000386536:G185D;ENSP00000264090:G211D;ENSP00000377614:G149D;ENSP00000386542:G230D	ENSP00000264090:G211D	G	+	2	0	MTHFD2	74294762	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.415000	0.97375	2.813000	0.96785	0.655000	0.94253	GGC		0.463	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			28	106	0	0	0	0.005443	0	28	106				
CTNNA2	1496	broad.mit.edu	37	2	80773043	80773043	+	Silent	SNP	C	C	A	rs199835264		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:80773043C>A	ENST00000402739.4	+	10	1400	c.1395C>A	c.(1393-1395)gcC>gcA	p.A465A	CTNNA2_ENST00000361291.4_Silent_p.A499A|CTNNA2_ENST00000343114.3_Silent_p.A144A|CTNNA2_ENST00000540488.1_Silent_p.A465A|CTNNA2_ENST00000466387.1_Silent_p.A465A|CTNNA2_ENST00000496558.1_Silent_p.A465A|CTNNA2_ENST00000541047.1_Silent_p.A465A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	465					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCATCAATGCCGCTCTGACAC	0.498																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1393-1395)GCC>GCA		catenin, alpha 2 isoform 1							50.0	54.0	53.0					2																	80773043		2047	4212	6259	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80773043C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1395C>A	2.37:g.80773043C>A						CTNNA2_uc010yse.1_Silent_p.A465A|CTNNA2_uc010ysf.1_Silent_p.A465A|CTNNA2_uc010ysg.1_Silent_p.A465A|CTNNA2_uc010ysi.1_Silent_p.A97A	p.A465A	NM_004389	NP_004380	P26232	CTNA2_HUMAN			10	1400	+			465					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1395C>A																																																																																					0.498	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		14	19	1	0	6.31663e-08	0.003163	8.24584e-08	14	19				
NMS	129521	broad.mit.edu	37	2	101089998	101089998	+	Silent	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:101089998T>G	ENST00000376865.1	+	3	187	c.180T>G	c.(178-180)ccT>ccG	p.P60P		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	60					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CTCGCCAACCTAAGGTAAAAA	0.348																																							uc002tan.1		NA																	0				ovary(1)	1						c.(178-180)CCT>CCG		neuromedin S precursor							39.0	38.0	38.0					2																	101089998		2163	4296	6459	SO:0001819	synonymous_variant	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101089998T>G	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.180T>G	2.37:g.101089998T>G							p.P60P	NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN			3	187	+			60						Silent	SNP	ENST00000376865.1	37	c.180T>G	CCDS33259.1																																																																																				0.348	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		4	13	0	0	0	0.000602	0	4	13				
SLC9A4	389015	broad.mit.edu	37	2	103149083	103149083	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:103149083C>A	ENST00000295269.4	+	12	2790	c.2333C>A	c.(2332-2334)aCa>aAa	p.T778K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	778					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCGAGGTGGACAGCTGACCAT	0.498																																							uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2332-2334)ACA>AAA		solute carrier family 9 (sodium/hydrogen							79.0	50.0	60.0					2																	103149083		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149083C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2333C>A	2.37:g.103149083C>A	ENSP00000295269:p.Thr778Lys						p.T778K	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			12	2790	+			778			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2333C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733127	0.48939	.	.	ENSG00000180251	ENST00000295269	T	0.45668	0.89	5.31	4.43	0.53597	.	0.351810	0.29369	N	0.012348	T	0.27731	0.0682	L	0.27053	0.805	0.28572	N	0.91056	B	0.20052	0.041	B	0.19391	0.025	T	0.15954	-1.0419	10	0.11182	T	0.66	.	11.724	0.51698	0.0:0.9152:0.0:0.0848	.	778	Q6AI14	SL9A4_HUMAN	K	778	ENSP00000295269:T778K	ENSP00000295269:T778K	T	+	2	0	SLC9A4	102515515	0.496000	0.26059	0.122000	0.21767	0.119000	0.20118	1.030000	0.30153	1.362000	0.46000	0.655000	0.94253	ACA		0.498	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		13	6	1	0	0.00185496	0.001855	0.0021007	13	6				
LRP1B	53353	broad.mit.edu	37	2	140992400	140992400	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:140992400C>T	ENST00000389484.3	-	90	14585	c.13614G>A	c.(13612-13614)ccG>ccA	p.P4538P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4538					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P4538P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ggtagatgggcggcgctgtgt	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - coding silent(1)		endometrium(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13612-13614)CCG>CCA		low density lipoprotein-related protein 1B							113.0	110.0	111.0					2																	140992400		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140992400C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13614G>A	2.37:g.140992400C>T		TSP Lung(27;0.18)					p.P4538P	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	90	14586	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4538			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.13614G>A	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	39	0	0	0	0.00499	0	14	39				
MBD5	55777	broad.mit.edu	37	2	149227121	149227121	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:149227121A>T	ENST00000407073.1	+	9	2606	c.1609A>T	c.(1609-1611)Agc>Tgc	p.S537C	MBD5_ENST00000404807.1_Missense_Mutation_p.S537C	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	537					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AAATACCCCAAGCAGTGCAGC	0.438																																							uc002twm.3		NA																	0				skin(3)|ovary(2)	5						c.(1609-1611)AGC>TGC		methyl-CpG binding domain protein 5							92.0	94.0	93.0					2																	149227121		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227121A>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1609A>T	2.37:g.149227121A>T	ENSP00000386049:p.Ser537Cys					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.S537C|MBD5_uc002twn.1_Translation_Start_Site	p.S537C	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2597	+			537					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.1609A>T	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.65|11.65	1.700824|1.700824	0.30142|0.30142	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.49720	.|0.78;0.77	5.07|5.07	1.21|1.21	0.21127|0.21127	.|.	.|0.175545	.|0.40908	.|D	.|0.000998	T|T	0.27663|0.27663	0.0680|0.0680	N|N	0.19112|0.19112	0.55|0.55	0.35108|0.35108	D|D	0.765859|0.765859	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.13150|0.13150	-1.0520|-1.0520	5|10	.|0.72032	.|D	.|0.01	-1.1913|-1.1913	5.4898|5.4898	0.16769|0.16769	0.7268:0.0:0.1444:0.1288|0.7268:0.0:0.1444:0.1288	.|.	.|537	.|Q9P267	.|MBD5_HUMAN	H|C	276|537	.|ENSP00000386049:S537C;ENSP00000384672:S537C	.|ENSP00000384672:S537C	Q|S	+|+	3|1	2|0	MBD5|MBD5	148943591|148943591	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.717000|5.717000	0.68446|0.68446	0.303000|0.303000	0.22785|0.22785	0.533000|0.533000	0.62120|0.62120	CAA|AGC		0.438	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			24	40	0	0	0	0.002299	0	24	40				
NEB	4703	broad.mit.edu	37	2	152548676	152548676	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:152548676C>G	ENST00000172853.10	-	22	2150	c.2003G>C	c.(2002-2004)aGa>aCa	p.R668T	NEB_ENST00000603639.1_Missense_Mutation_p.R668T|NEB_ENST00000409198.1_Missense_Mutation_p.R668T|NEB_ENST00000427231.2_Missense_Mutation_p.R668T|NEB_ENST00000604864.1_Missense_Mutation_p.R668T|NEB_ENST00000397345.3_Missense_Mutation_p.R668T			P20929	NEBU_HUMAN	nebulin	668					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTTTATATCTAGCCTGAAA	0.388																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(2002-2004)AGA>ACA		nebulin isoform 3							138.0	130.0	133.0					2																	152548676		1875	4105	5980	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152548676C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2003G>C	2.37:g.152548676C>G	ENSP00000172853:p.Arg668Thr					NEB_uc010fny.1_Missense_Mutation_p.R222T	p.R668T	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	22	2194	-			668					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.2003G>C		.	.	.	.	.	.	.	.	.	.	T	3.608	-0.080249	0.07141	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.38;3.4;3.4;3.38	5.83	5.83	0.93111	.	0.218005	0.41001	D	0.000965	T	0.05914	0.0154	N	0.22421	0.69	0.80722	D	1	B;B	0.22480	0.0;0.07	B;B	0.28465	0.001;0.09	T	0.42120	-0.9470	10	0.33141	T	0.24	.	10.7077	0.45965	0.0:0.072:0.0:0.928	.	301;668	Q86TG3;P20929	.;NEBU_HUMAN	T	668	ENSP00000386259:R668T;ENSP00000380505:R668T;ENSP00000416578:R668T;ENSP00000172853:R668T	ENSP00000172853:R668T	R	-	2	0	NEB	152256922	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	1.610000	0.36869	1.038000	0.40049	-0.332000	0.08345	AGA		0.388	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		33	48	0	0	0	0.002445	0	33	48				
NEB	4703	broad.mit.edu	37	2	152582033	152582033	+	Silent	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:152582033T>C	ENST00000172853.10	-	6	483	c.336A>G	c.(334-336)ccA>ccG	p.P112P	NEB_ENST00000603639.1_Silent_p.P112P|NEB_ENST00000409198.1_Silent_p.P112P|NEB_ENST00000427231.2_Silent_p.P112P|NEB_ENST00000604864.1_Silent_p.P112P|NEB_ENST00000397345.3_Silent_p.P112P			P20929	NEBU_HUMAN	nebulin	112					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCTGGCGTATGGCTGTCCTT	0.393																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(334-336)CCA>CCG		nebulin isoform 3							234.0	225.0	228.0					2																	152582033		1896	4115	6011	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152582033T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.336A>G	2.37:g.152582033T>C							p.P112P	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	6	527	-			112					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.336A>G																																																																																					0.393	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		46	86	0	0	0	0.00361	0	46	86				
TTN	7273	broad.mit.edu	37	2	179474204	179474204	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:179474204G>T	ENST00000591111.1	-	223	47134	c.46910C>A	c.(46909-46911)aCt>aAt	p.T15637N	TTN_ENST00000342992.6_Missense_Mutation_p.T14710N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T8338N|TTN_ENST00000460472.2_Missense_Mutation_p.T8213N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T17278N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T8405N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15637	Ig-like 98.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATGTAATAGTTGGGTAAGG	0.408																																							uc010zfg.1		NA																	0				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.(44128-44130)ACT>AAT		titin isoform N2-A							101.0	95.0	97.0					2																	179474204		1891	4117	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474204G>T	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.46910C>A	2.37:g.179474204G>T	ENSP00000465570:p.Thr15637Asn					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T8405N|TTN_uc010zfi.1_Missense_Mutation_p.T8338N|TTN_uc010zfj.1_Missense_Mutation_p.T8213N	p.T14710N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		222	44353	-			15637					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.44129C>A		.	.	.	.	.	.	.	.	.	.	G	12.17	1.858488	0.32791	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.85	5.85	0.93711	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	0.65059	0.2655	M	0.63428	1.95	0.46927	D	0.999252	P;P;P;P	0.43231	0.801;0.801;0.801;0.801	B;B;B;B	0.38106	0.265;0.265;0.265;0.265	T	0.70970	-0.4727	9	0.87932	D	0	.	15.7352	0.77837	0.0:0.0:0.8629:0.1371	.	8213;8338;8405;15637	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14710;8213;8405;8338;8213	ENSP00000343764:T14710N;ENSP00000434586:T8213N;ENSP00000340554:T8405N;ENSP00000352154:T8338N	ENSP00000340554:T8405N	T	-	2	0	TTN	179182449	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.866000	0.69590	2.753000	0.94483	0.655000	0.94253	ACT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	36	1	0	3.01185e-09	0.003954	4.03101e-09	27	36				
COL3A1	1281	broad.mit.edu	37	2	189855031	189855031	+	Splice_Site	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:189855031A>T	ENST00000304636.3	+	10	914		c.e10-1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CATTATTTTTAGGGTATCAAA	0.328																																							uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.e10-2		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						68.0	73.0	71.0					2																	189855031		2203	4300	6503	SO:0001630	splice_region_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189855031A>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.745-1A>T	2.37:g.189855031A>T						COL3A1_uc010frw.1_5'Flank	p.G249_splice	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		10	862	+								D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Splice_Site	SNP	ENST00000304636.3	37	c.745_splice	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.183763	0.57800	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL3A1	189563276	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	8.818000	0.91991	2.289000	0.77006	0.482000	0.46254	.		0.328	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	Intron	4	6	0	0	0	0.000248	0	4	6				
KIAA1755	85449	broad.mit.edu	37	20	36869386	36869386	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr20:36869386A>T	ENST00000279024.4	-	3	1418	c.1147T>A	c.(1147-1149)Tgt>Agt	p.C383S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	383										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCAGAGGCACAGTCCAGTGCG	0.557																																							uc002xhy.1		NA																	0				ovary(4)|pancreas(1)	5						c.(1147-1149)TGT>AGT		hypothetical protein LOC85449							104.0	110.0	108.0					20																	36869386		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869386A>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1147T>A	20.37:g.36869386A>T	ENSP00000279024:p.Cys383Ser					KIAA1755_uc002xhz.1_Missense_Mutation_p.C383S	p.C383S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	1419	-		Myeloproliferative disorder(115;0.00874)	383					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1147T>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	A	8.237	0.805978	0.16467	.	.	ENSG00000149633	ENST00000279024	T	0.59502	0.26	4.91	1.17	0.20885	.	0.403564	0.21441	N	0.074493	T	0.47248	0.1435	M	0.62723	1.935	0.09310	N	1	B	0.27498	0.18	B	0.19391	0.025	T	0.36212	-0.9757	10	0.42905	T	0.14	.	6.1185	0.20139	0.6071:0.309:0.0839:0.0	.	383	Q5JYT7	K1755_HUMAN	S	383	ENSP00000279024:C383S	ENSP00000279024:C383S	C	-	1	0	KIAA1755	36302800	0.000000	0.05858	0.004000	0.12327	0.061000	0.15899	0.111000	0.15458	0.003000	0.14656	0.533000	0.62120	TGT		0.557	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		82	63	0	0	0	0.00361	0	82	63				
PIGT	51604	broad.mit.edu	37	20	44050087	44050087	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr20:44050087G>T	ENST00000279036.6	+	9	1178	c.1098G>T	c.(1096-1098)ggG>ggT	p.G366G	PIGT_ENST00000543458.2_Silent_p.G310G|PIGT_ENST00000279035.9_Silent_p.G264G|PIGT_ENST00000535404.1_Silent_p.G211G|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000341555.5_Silent_p.G172G|PIGT_ENST00000545755.1_Silent_p.G104G	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	366					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGCAGAAGGGGGAGCTGAGCA	0.592																																							uc002xoh.1		NA																	0				pancreas(1)	1						c.(1096-1098)GGG>GGT		phosphatidylinositol glycan anchor biosynthesis,							84.0	77.0	80.0					20																	44050087		2203	4300	6503	SO:0001819	synonymous_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44050087G>T		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1098G>T	20.37:g.44050087G>T						PIGT_uc010ghd.1_Silent_p.G273G|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.G329G|PIGT_uc010ghf.1_Silent_p.G319G|PIGT_uc002xoj.1_Intron|PIGT_uc002xok.1_Silent_p.G331G|PIGT_uc010zwu.1_Silent_p.G104G|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Silent_p.G104G|PIGT_uc010zww.1_Silent_p.G310G|PIGT_uc010zwx.1_Silent_p.G201G|PIGT_uc010zwy.1_Silent_p.G264G|PIGT_uc010zwz.1_Silent_p.G104G|PIGT_uc010zxa.1_Silent_p.G204G|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Silent_p.G42G|PIGT_uc002xom.1_5'Flank	p.G366G	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			9	1171	+		Myeloproliferative disorder(115;0.0122)	366			Lumenal (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	c.1098G>T	CCDS13353.1																																																																																				0.592	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		26	35	1	0	4.22769e-11	0.00632	5.89652e-11	26	35				
NELFCD	51497	broad.mit.edu	37	20	57568155	57568155	+	Silent	SNP	G	G	A	rs141996345		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr20:57568155G>A	ENST00000344018.3	+	11	1386	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	NELFCD_ENST00000602795.1_Silent_p.A462A|NELFCD_ENST00000479207.1_3'UTR			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	453					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											TCCACCTGGCGTTGCTGGATG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		17745	0.001		0.0	False		,,,				2504	0.0						uc002yag.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1357-1359)GCG>GCA		TH1-like protein		G		5,4401	9.9+/-24.2	0,5,2198	133.0	104.0	113.0		1359	-10.6	0.0	20	dbSNP_134	113	0,8600		0,0,4300	no	coding-synonymous	TH1L	NM_198976.1		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		453/591	57568155	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	51497				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding	g.chr20:57568155G>A	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1359G>A	20.37:g.57568155G>A						TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.A453A	p.A453A	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Colorectal(105;0.109)		11	1386	+	all_lung(29;0.00711)		453					B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	37	c.1359G>A																																																																																					0.502	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		12	51	0	0	0	0.001368	0	12	51				
PCNT	5116	broad.mit.edu	37	21	47808656	47808656	+	Splice_Site	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr21:47808656G>T	ENST00000359568.5	+	18	3571		c.e18-1		PCNT_ENST00000480896.1_Splice_Site	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCCTGTCTCAGAGGGGCCCTC	0.667																																							uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.e18-1		pericentrin							58.0	59.0	59.0					21																	47808656		2203	4300	6503	SO:0001630	splice_region_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47808656G>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3465-1G>T	21.37:g.47808656G>T						PCNT_uc002zjj.2_Splice_Site_p.R1037_splice	p.R1155_splice	NM_006031	NP_006022	O95613	PCNT_HUMAN			18	3572	+	Breast(49;0.112)							O43152|Q7Z7C9	Splice_Site	SNP	ENST00000359568.5	37	c.3465_splice	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481298	0.26598	.	.	ENSG00000160299	ENST00000359568	.	.	.	4.57	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.46458	D	0.999051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5309	0.44975	0.0:0.1965:0.8035:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCNT	46633084	0.987000	0.35691	0.100000	0.21137	0.024000	0.10985	3.927000	0.56499	1.237000	0.43756	0.655000	0.94253	.		0.667	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	Intron	25	39	1	0	5.45727e-16	0.008361	8.21691e-16	25	39				
SLC5A4	6527	broad.mit.edu	37	22	32650132	32650133	+	Missense_Mutation	DNP	CC	CC	AA	rs148427710		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr22:32650132_32650133CC>AA	ENST00000266086.4	-	2	214_215	c.203_204GG>TT	c.(202-204)tGG>tTT	p.W68F	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	68					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CACTTACCGGCCACCAGGCCAT	0.525																																							uc003ami.2		NA																	0					0						c.(202-204)TGG>TTT		solute carrier family 5 (low affinity glucose																																				SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32650132_32650133CC>AA	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.203_204delinsAA	22.37:g.32650132_32650133delinsAA	ENSP00000266086:p.Trp68Phe						p.W68F	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			2	205_206	-			68			Helical; (Potential).		O15279	Missense_Mutation	DNP	ENST00000266086.4	37	c.203_204GG>TT	CCDS13903.1																																																																																				0.525	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		12	46	0	0	0	0.004672	0	12	46				
GRM7	2917	broad.mit.edu	37	3	7721841	7721841	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:7721841G>C	ENST00000357716.4	+	9	2831	c.2557G>C	c.(2557-2559)Gaa>Caa	p.E853Q	GRM7_ENST00000389336.4_Missense_Mutation_p.E853Q|GRM7_ENST00000402647.2_Missense_Mutation_p.E853Q|GRM7_ENST00000403881.1_Missense_Mutation_p.E853Q|GRM7_ENST00000486284.1_Missense_Mutation_p.E853Q	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	853					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTTCCACCCTGAACTCAATGT	0.502																																							uc003bqm.2		NA																	0				ovary(4)|lung(3)	7						c.(2557-2559)GAA>CAA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						113.0	94.0	100.0					3																	7721841		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7721841G>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2557G>C	3.37:g.7721841G>C	ENSP00000350348:p.Glu853Gln					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E853Q|GRM7_uc003bql.2_Missense_Mutation_p.E853Q|GRM7_uc003bqn.1_Missense_Mutation_p.E436Q	p.E853Q	NM_000844	NP_000835	Q14831	GRM7_HUMAN			9	2831	+			853			Cytoplasmic (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2557G>C	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734620	0.69189	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647	D;D;D;D;D	0.91124	-2.75;-2.79;-2.78;-2.79;-2.79	5.17	5.17	0.71159	GPCR, family 3, C-terminal (1);	0.108387	0.64402	D	0.000007	D	0.94578	0.8253	M	0.72353	2.195	0.58432	D	0.999996	D;D;D;P	0.67145	0.996;0.981;0.993;0.847	D;D;D;P	0.75484	0.986;0.932;0.968;0.73	D	0.93313	0.6686	10	0.33141	T	0.24	.	17.5976	0.88016	0.0:0.0:1.0:0.0	.	853;608;853;853	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	Q	853	ENSP00000350348:E853Q;ENSP00000417536:E853Q;ENSP00000373987:E853Q;ENSP00000385664:E853Q;ENSP00000384585:E853Q	ENSP00000350348:E853Q	E	+	1	0	GRM7	7696841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.562000	0.86427	0.585000	0.79938	GAA		0.502	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		41	23	0	0	0	0.002852	0	41	23				
TRANK1	9881	broad.mit.edu	37	3	36897333	36897333	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:36897333C>T	ENST00000429976.2	-	12	3995	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K	TRANK1_ENST00000301807.6_Missense_Mutation_p.E700K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E700K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1250							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTCAGCCTCCTCTTCATCC	0.483																																							uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2098-2100)GAG>AAG		lupus brain antigen 1							153.0	159.0	157.0					3																	36897333		2090	4223	6313	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897333C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3748G>A	3.37:g.36897333C>T	ENSP00000416168:p.Glu1250Lys						p.E700K	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2400	-			1250					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2098G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865983	0.71949	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.33216	1.42;1.84;1.42	5.45	5.45	0.79879	.	0.229124	0.31051	N	0.008347	T	0.36936	0.0985	L	0.39020	1.185	0.50813	D	0.999893	D	0.57257	0.979	P	0.52343	0.696	T	0.01966	-1.1238	10	0.15499	T	0.54	.	19.6693	0.95905	0.0:1.0:0.0:0.0	.	1250	O15050	TRNK1_HUMAN	K	700;1250;700	ENSP00000416826:E700K;ENSP00000416168:E1250K;ENSP00000301807:E700K	ENSP00000301807:E700K	E	-	1	0	TRANK1	36872337	0.994000	0.37717	0.992000	0.48379	0.991000	0.79684	6.025000	0.70864	2.731000	0.93534	0.555000	0.69702	GAG		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		23	82	0	0	0	0.00278	0	23	82				
SCN10A	6336	broad.mit.edu	37	3	38739794	38739794	+	Silent	SNP	G	G	A	rs142804903		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:38739794G>A	ENST00000449082.2	-	27	4916	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1639					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGAACATGTCGTCGATGCCAG	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21167	0.0		0.0	False		,,,				2504	0.0						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4915-4917)GAC>GAT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	G		1,4405	2.1+/-5.4	0,1,2202	174.0	163.0	167.0		4917	-10.1	0.1	3	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	SCN10A	NM_006514.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1639/1957	38739794	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739794G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4917C>T	3.37:g.38739794G>A							p.D1639D	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4917	-			1639			IV.		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4917C>T	CCDS33736.1																																																																																				0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		31	98	0	0	0	0.003271	0	31	98				
PLXNB1	5364	broad.mit.edu	37	3	48461086	48461086	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:48461086G>A	ENST00000358536.4	-	11	2878	c.2609C>T	c.(2608-2610)tCa>tTa	p.S870L	PLXNB1_ENST00000296440.6_Missense_Mutation_p.S870L|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	870					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCATCACCTGAGAGGAGGGT	0.687																																							uc003csw.2		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2608-2610)TCA>TTA		plexin B1 precursor							17.0	20.0	19.0					3																	48461086		2186	4264	6450	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48461086G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2609C>T	3.37:g.48461086G>A	ENSP00000351338:p.Ser870Leu					PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Missense_Mutation_p.S870L|PLXNB1_uc010hjx.1_Intron	p.S870L	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	11	2879	-			870			Extracellular (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.2609C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642611	0.87859	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.04360	3.64;3.64	4.56	4.56	0.56223	.	0.238534	0.28510	N	0.015093	T	0.05318	0.0141	N	0.14661	0.345	0.80722	D	1	P	0.52577	0.954	P	0.47206	0.541	T	0.52298	-0.8594	10	0.48119	T	0.1	.	14.4884	0.67634	0.0:0.0:1.0:0.0	.	870	O43157	PLXB1_HUMAN	L	870	ENSP00000296440:S870L;ENSP00000351338:S870L	ENSP00000296440:S870L	S	-	2	0	PLXNB1	48436090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.264000	0.72527	2.076000	0.62316	0.462000	0.41574	TCA		0.687	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		10	36	0	0	0	0.008291	0	10	36				
CELSR3	1951	broad.mit.edu	37	3	48697796	48697796	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:48697796T>C	ENST00000164024.4	-	1	2552	c.2272A>G	c.(2272-2274)Atg>Gtg	p.M758V	CELSR3_ENST00000544264.1_Missense_Mutation_p.M758V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	758	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TACTCCTTCATTGTGAACTCA	0.567																																							uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(2272-2274)ATG>GTG		cadherin EGF LAG seven-pass G-type receptor 3							104.0	91.0	96.0					3																	48697796		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697796T>C	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2272A>G	3.37:g.48697796T>C	ENSP00000164024:p.Met758Val					CELSR3_uc003cuf.1_Missense_Mutation_p.M828V	p.M758V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2553	-			758			Extracellular (Potential).|Cadherin 5.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2272A>G	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	T	8.741	0.918994	0.17982	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01647	4.71;4.71	5.82	2.16	0.27623	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	N	0.16201	0.385	0.29825	N	0.830537	B;B	0.09022	0.002;0.0	B;B	0.15052	0.012;0.0	T	0.36383	-0.9750	9	0.35671	T	0.21	.	8.6792	0.34198	0.0:0.086:0.5434:0.3706	.	758;828	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	V	758	ENSP00000164024:M758V;ENSP00000445694:M758V	ENSP00000164024:M758V	M	-	1	0	CELSR3	48672800	1.000000	0.71417	0.262000	0.24481	0.981000	0.71138	4.294000	0.59043	0.442000	0.26555	0.459000	0.35465	ATG		0.567	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		19	47	0	0	0	0.007413	0	19	47				
GTF2E1	2960	broad.mit.edu	37	3	120500000	120500000	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:120500000G>C	ENST00000283875.5	+	5	1096	c.1003G>C	c.(1003-1005)Gcc>Ccc	p.A335P		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	335					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GACTTCCTCTGCCATGGCTGG	0.557																																							uc003edz.3		NA																	0				ovary(1)	1						c.(1003-1005)GCC>CCC		general transcription factor IIE, polypeptide 1,							74.0	76.0	75.0					3																	120500000		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120500000G>C	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.1003G>C	3.37:g.120500000G>C	ENSP00000283875:p.Ala335Pro						p.A335P	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	5	1117	+			335					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.1003G>C	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	7.998	0.754831	0.15846	.	.	ENSG00000153767	ENST00000283875	T	0.47528	0.84	5.39	4.52	0.55395	.	0.160991	0.53938	D	0.000049	T	0.45013	0.1321	M	0.62723	1.935	0.24098	N	0.995887	B	0.06786	0.001	B	0.06405	0.002	T	0.33752	-0.9856	10	0.32370	T	0.25	-8.9385	13.2905	0.60269	0.0755:0.0:0.9245:0.0	.	335	P29083	T2EA_HUMAN	P	335	ENSP00000283875:A335P	ENSP00000283875:A335P	A	+	1	0	GTF2E1	121982690	0.996000	0.38824	0.058000	0.19502	0.007000	0.05969	3.602000	0.54066	1.526000	0.49068	-0.142000	0.14014	GCC		0.557	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		8	24	0	0	0	0.00308	0	8	24				
TRPC1	7220	broad.mit.edu	37	3	142467281	142467281	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:142467281A>G	ENST00000476941.1	+	4	1097	c.611A>G	c.(610-612)aAg>aGg	p.K204R	TRPC1_ENST00000273482.6_Missense_Mutation_p.K170R	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	204					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AAAAACAAAAAGGATAGCCTC	0.338																																							uc003evc.2		NA																	0				ovary(2)	2						c.(610-612)AAG>AGG		transient receptor potential cation channel,							120.0	125.0	124.0					3																	142467281		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142467281A>G	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.611A>G	3.37:g.142467281A>G	ENSP00000419313:p.Lys204Arg					TRPC1_uc003evb.2_Missense_Mutation_p.K170R	p.K204R	NM_003304	NP_003295	P48995	TRPC1_HUMAN			4	747	+			204			Cytoplasmic (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.611A>G	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728418	0.48833	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.76839	-1.05;-1.05	5.29	5.29	0.74685	Transient receptor potential II (1);Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	N	0.02315	-0.6	0.80722	D	1	B;B	0.33883	0.43;0.019	B;B	0.31869	0.137;0.032	T	0.58504	-0.7625	10	0.10377	T	0.69	-4.5288	15.5203	0.75859	1.0:0.0:0.0:0.0	.	204;170	P48995;P48995-2	TRPC1_HUMAN;.	R	204;170	ENSP00000419313:K204R;ENSP00000273482:K170R	ENSP00000273482:K170R	K	+	2	0	TRPC1	143949971	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.877000	0.92386	2.133000	0.65898	0.377000	0.23210	AAG		0.338	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		34	40	0	0	0	0.002836	0	34	40				
SLITRK3	22865	broad.mit.edu	37	3	164907724	164907724	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:164907724A>T	ENST00000475390.1	-	2	1338	c.895T>A	c.(895-897)Tca>Aca	p.S299T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S299T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	299					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTACTTGATGACGAATGTGGA	0.438										HNSCC(40;0.11)																													uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(895-897)TCA>ACA		slit and trk like 3 protein precursor							114.0	117.0	116.0					3																	164907724		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907724A>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.895T>A	3.37:g.164907724A>T	ENSP00000420091:p.Ser299Thr	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.S299T	p.S299T	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1339	-			299			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.895T>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.677208	0.00751	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.34072	1.38;1.38	5.75	3.26	0.37387	.	0.672995	0.11474	N	0.560417	T	0.20659	0.0497	N	0.22421	0.69	0.33303	D	0.56502	B	0.22276	0.067	B	0.18871	0.023	T	0.28267	-1.0049	10	0.20046	T	0.44	-0.7967	4.0155	0.09642	0.6094:0.0:0.237:0.1536	.	299	O94933	SLIK3_HUMAN	T	299	ENSP00000420091:S299T;ENSP00000241274:S299T	ENSP00000241274:S299T	S	-	1	0	SLITRK3	166390418	1.000000	0.71417	0.766000	0.31476	0.030000	0.12068	3.341000	0.52151	0.393000	0.25203	-0.408000	0.06270	TCA		0.438	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		20	62	0	0	0	0.008871	0	20	62				
UVSSA	57654	broad.mit.edu	37	4	1346874	1346874	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:1346874C>T	ENST00000389851.4	+	5	1054	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	UVSSA_ENST00000511216.1_Silent_p.L203L|UVSSA_ENST00000507531.1_Silent_p.L203L	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	203					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CTTTAGGCTGCTGGTGCCTTT	0.567																																							uc003gde.3		NA																	0					0						c.(607-609)CTG>TTG		hypothetical protein LOC57654							50.0	50.0	50.0					4																	1346874		2199	4291	6490	SO:0001819	synonymous_variant	57654							g.chr4:1346874C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.607C>T	4.37:g.1346874C>T							p.L203L	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		5	1054	+			203					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.607C>T	CCDS33938.1																																																																																				0.567	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		20	35	0	0	0	0.007413	0	20	35				
AFAP1	60312	broad.mit.edu	37	4	7802188	7802188	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:7802188T>A	ENST00000360265.4	-	9	1481	c.1247A>T	c.(1246-1248)cAg>cTg	p.Q416L	AFAP1_ENST00000358461.2_Missense_Mutation_p.Q416L|AFAP1_ENST00000420658.1_Missense_Mutation_p.Q416L|AFAP1_ENST00000382543.3_Missense_Mutation_p.Q416L|AFAP1_ENST00000513842.1_5'Flank			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	416	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TGCAACCTCCTGGCCGTTGCG	0.547																																							uc003gkg.1		NA																	0					0						c.(1246-1248)CAG>CTG		actin filament associated protein 1							77.0	71.0	73.0					4																	7802188		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7802188T>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1247A>T	4.37:g.7802188T>A	ENSP00000353402:p.Gln416Leu					AFAP1_uc011bwk.1_Missense_Mutation_p.Q416L	p.Q416L	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			10	1520	-			416			PH 2.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1247A>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397172	0.62177	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.0	5.0	0.66597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	L	0.53249	1.67	0.80722	D	1	D;B	0.67145	0.996;0.014	D;B	0.69142	0.962;0.053	T	0.81409	-0.0946	10	0.38643	T	0.18	-39.3802	14.7231	0.69323	0.0:0.0:0.0:1.0	.	416;416	E9PDT7;Q8N556	.;AFAP1_HUMAN	L	416	ENSP00000353402:Q416L;ENSP00000410689:Q416L;ENSP00000351245:Q416L;ENSP00000371983:Q416L	ENSP00000351245:Q416L	Q	-	2	0	AFAP1	7853088	1.000000	0.71417	0.997000	0.53966	0.134000	0.20937	5.784000	0.68990	1.885000	0.54596	0.383000	0.25322	CAG		0.547	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		4	17	0	0	0	0.000602	0	4	17				
GABRG1	2565	broad.mit.edu	37	4	46043081	46043081	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:46043081G>C	ENST00000295452.4	-	9	1489	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	441					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTAGAATAAGAGTCAATTTT	0.393																																							uc003gxb.2		NA																	0				ovary(2)	2						c.(1321-1323)TCT>TGT		gamma-aminobutyric acid A receptor, gamma 1							118.0	121.0	120.0					4																	46043081		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043081G>C	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1322C>G	4.37:g.46043081G>C	ENSP00000295452:p.Ser441Cys						p.S441C	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1474	-			441			Cytoplasmic (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1322C>G	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156740	0.78114	.	.	ENSG00000163285	ENST00000295452	D	0.84223	-1.82	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.056689	0.64402	D	0.000001	D	0.88727	0.6515	L	0.41356	1.27	0.53688	D	0.999976	D	0.71674	0.998	D	0.63033	0.91	D	0.89916	0.4055	10	0.87932	D	0	.	17.9991	0.89193	0.0:0.0:1.0:0.0	.	441	Q8N1C3	GBRG1_HUMAN	C	441	ENSP00000295452:S441C	ENSP00000295452:S441C	S	-	2	0	GABRG1	45737838	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	7.912000	0.87465	2.495000	0.84180	0.460000	0.39030	TCT		0.393	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		54	27	0	0	0	0.00361	0	54	27				
SLC9B1	150159	broad.mit.edu	37	4	103822321	103822321	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:103822321C>G	ENST00000296422.7	-	12	1642	c.1501G>C	c.(1501-1503)Gat>Cat	p.D501H	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	501					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTGCTTGGATCATAATGGCGT	0.378																																							uc003hww.2		NA																	0				ovary(1)|skin(1)	2						c.(1501-1503)GAT>CAT		Na+/H+ exchanger domain containing 1 isoform 1							78.0	82.0	81.0					4																	103822321		1768	3355	5123	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103822321C>G	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1501G>C	4.37:g.103822321C>G	ENSP00000296422:p.Asp501His					NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.D274H	p.D501H	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	12	1623	-		Hepatocellular(203;0.217)	501					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.1501G>C	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	6.807	0.518036	0.13005	.	.	ENSG00000164037	ENST00000296422	T	0.21031	2.03	3.82	2.05	0.26809	.	1.297030	0.04993	N	0.467738	T	0.14485	0.0350	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.26744	-1.0094	9	0.25106	T	0.35	-27.0149	7.3748	0.26823	0.0:0.7726:0.0:0.2274	.	501	Q4ZJI4	SL9B1_HUMAN	H	501	ENSP00000296422:D501H	ENSP00000296422:D501H	D	-	1	0	SLC9B1	104041770	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-0.162000	0.10012	0.929000	0.37192	0.585000	0.79938	GAT		0.378	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		4	169	0	0	0	0.001984	0	4	169				
KIAA1109	84162	broad.mit.edu	37	4	123264593	123264593	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:123264593C>T	ENST00000264501.4	+	73	12754	c.12381C>T	c.(12379-12381)ggC>ggT	p.G4127G	KIAA1109_ENST00000388738.3_Silent_p.G4127G			Q2LD37	K1109_HUMAN	KIAA1109	4127	Ser-rich.				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)				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						GCCCTCTTGGCCGAAGTCGAC	0.433																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(12379-12381)GGC>GGT		fragile site-associated protein							103.0	94.0	97.0					4																	123264593		1957	4146	6103	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123264593C>T	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.12381C>T	4.37:g.123264593C>T						KIAA1109_uc003iem.2_Silent_p.G483G|KIAA1109_uc003ien.2_Silent_p.G61G	p.G4127G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			71	12426	+			4127			Ser-rich.		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.12381C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.779|9.779	1.174801|1.174801	0.21704|0.21704	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000442707	.|.	.|.	.|.	5.88|5.88	4.91|4.91	0.64330|0.64330	.|.	.|.	.|.	.|.	.|.	T|T	0.56702|0.56702	0.2003|0.2003	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54774|0.54774	-0.8243|-0.8243	4|4	.|.	.|.	.|.	.|.	6.9527|6.9527	0.24554|0.24554	0.0:0.6879:0.1361:0.176|0.0:0.6879:0.1361:0.176	.|.	.|.	.|.	.|.	V|S	503|73	.|.	.|.	A|P	+|+	2|1	0|0	KIAA1109|KIAA1109	123484043|123484043	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	0.974000|0.974000	0.29436|0.29436	1.232000|1.232000	0.43678|0.43678	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		10	28	0	0	0	0.001855	0	10	28				
CLCN3	1182	broad.mit.edu	37	4	170628234	170628234	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:170628234G>T	ENST00000513761.1	+	11	2525	c.1966G>T	c.(1966-1968)Gac>Tac	p.D656Y	CLCN3_ENST00000360642.3_Missense_Mutation_p.D629Y|CLCN3_ENST00000347613.4_Missense_Mutation_p.D656Y|CLCN3_ENST00000504131.2_Missense_Mutation_p.D639Y	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	656					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CCTGGCTGCTGACGTTATGAG	0.433																																							uc003isi.2		NA																	0				breast(2)|ovary(1)	3						c.(1966-1968)GAC>TAC		chloride channel 3 isoform b							157.0	141.0	146.0					4																	170628234		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170628234G>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1966G>T	4.37:g.170628234G>T	ENSP00000424603:p.Asp656Tyr					CLCN3_uc003ish.2_Missense_Mutation_p.D656Y|CLCN3_uc011cjz.1_Missense_Mutation_p.D639Y|CLCN3_uc011cka.1_Missense_Mutation_p.D629Y|CLCN3_uc003isj.1_Missense_Mutation_p.D629Y	p.D656Y	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	11	2475	+		Prostate(90;0.00601)|Renal(120;0.0183)	656			Cytoplasmic (By similarity).		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1966G>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215215	0.79352	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.91843	-2.52;-2.92;-2.52;-2.52;-2.92	5.48	5.48	0.80851	Cystathionine beta-synthase, core (1);	0.045457	0.85682	D	0.000000	D	0.96253	0.8778	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.76494	0.964;0.999;0.997;0.998;0.998	P;D;D;D;D	0.72625	0.891;0.978;0.918;0.978;0.926	D	0.96513	0.9380	10	0.87932	D	0	-11.0317	19.3596	0.94431	0.0:0.0:1.0:0.0	.	629;639;629;656;656	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	Y	656;656;629;639;629	ENSP00000424603:D656Y;ENSP00000261514:D656Y;ENSP00000353857:D629Y;ENSP00000424540:D639Y;ENSP00000425323:D629Y	ENSP00000261514:D656Y	D	+	1	0	CLCN3	170864809	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.340000	0.97038	2.568000	0.86640	0.655000	0.94253	GAC		0.433	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			20	50	1	0	9.95505e-16	0.002299	1.49045e-15	20	50				
SLC6A18	348932	broad.mit.edu	37	5	1232907	1232907	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:1232907T>C	ENST00000324642.3	+	3	466	c.343T>C	c.(343-345)Tac>Cac	p.Y115H	SLC6A18_ENST00000296821.4_Missense_Mutation_p.Y115H	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	115					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGCCTGTACTACAACACCAT	0.637																																							uc003jby.1		NA																	0				ovary(1)	1						c.(343-345)TAC>CAC		solute carrier family 6, member 18							143.0	114.0	124.0					5																	1232907		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232907T>C	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.343T>C	5.37:g.1232907T>C	ENSP00000323549:p.Tyr115His						p.Y115H	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	466	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		115			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.343T>C	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.886853	0.72410	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	D;D	0.84516	-1.86;-1.86	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.93949	0.8063	M	0.93978	3.48	0.48511	D	0.999667	D	0.71674	0.998	D	0.74674	0.984	D	0.95393	0.8483	10	0.87932	D	0	.	14.4925	0.67660	0.0:0.0:0.0:1.0	.	115	Q96N87	S6A18_HUMAN	H	115	ENSP00000323549:Y115H;ENSP00000296821:Y115H	ENSP00000296821:Y115H	Y	+	1	0	SLC6A18	1285907	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	5.741000	0.68638	1.901000	0.55032	0.418000	0.28097	TAC		0.637	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		23	43	0	0	0	0.001882	0	23	43				
AMACR	23600	broad.mit.edu	37	5	34004754	34004754	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:34004754C>A	ENST00000335606.6	-	3	565	c.477G>T	c.(475-477)atG>atT	p.M159I	AMACR_ENST00000502637.1_Missense_Mutation_p.M159I|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000382085.3_Missense_Mutation_p.M159I|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382068.3_Intron|AMACR_ENST00000512079.1_Missense_Mutation_p.M159I|AMACR_ENST00000426255.2_Missense_Mutation_p.M159I|AMACR_ENST00000382072.2_Intron|RP11-1084J3.4_ENST00000382079.3_Intron	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	159					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCAGTGCACACATAAGGCCAC	0.463																																							uc003jig.2		NA																	0					0						c.(475-477)ATG>ATT		alpha-methylacyl-CoA racemase isoform 1							128.0	112.0	117.0					5																	34004754		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34004754C>A	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.477G>T	5.37:g.34004754C>A	ENSP00000334424:p.Met159Ile					AMACR_uc003jih.2_Intron|AMACR_uc003jii.2_Missense_Mutation_p.M159I|AMACR_uc003jij.2_Missense_Mutation_p.M159I|AMACR_uc003jil.1_Missense_Mutation_p.M159I|AMACR_uc003jik.1_Intron	p.M159I	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN			3	559	-			159					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.477G>T	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048075	0.19827	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.55413	0.52;0.52;0.52	5.92	4.17	0.49024	CoA-transferase family III domain (2);	0.285879	0.49305	N	0.000146	T	0.54013	0.1832	M	0.83603	2.65	0.80722	D	1	B;B;B;B	0.19583	0.037;0.016;0.011;0.011	B;B;B;B	0.21360	0.034;0.012;0.02;0.02	T	0.51490	-0.8699	10	0.37606	T	0.19	-16.8025	9.8013	0.40766	0.0:0.7925:0.0:0.2075	.	159;159;159;159	B3KMU8;F8W9N1;D6RB81;Q9UHK6	.;.;.;AMACR_HUMAN	I	159	ENSP00000334424:M159I;ENSP00000371517:M159I;ENSP00000424351:M159I	ENSP00000334424:M159I	M	-	3	0	AMACR	34040511	0.661000	0.27430	0.999000	0.59377	0.006000	0.05464	-0.015000	0.12634	0.862000	0.35528	-0.136000	0.14681	ATG		0.463	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		18	42	1	0	5.01169e-05	0.00499	5.90266e-05	18	42				
PELO	53918	broad.mit.edu	37	5	52096562	52096562	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:52096562C>G	ENST00000274311.2	+	2	1319	c.334C>G	c.(334-336)Ctg>Gtg	p.L112V	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	112					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				CCAGTTCACCCTGGCCAAGAA	0.597																																							uc003jos.2		NA																	0					0						c.(334-336)CTG>GTG		pelota homolog							60.0	58.0	58.0					5																	52096562		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096562C>G		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.334C>G	5.37:g.52096562C>G	ENSP00000274311:p.Leu112Val					ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	p.L112V	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN			2	1319	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	112					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.334C>G	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974966	0.74360	.	.	ENSG00000152684	ENST00000274311	T	0.53640	0.61	5.66	5.66	0.87406	eRF1 domain 1/Pelota-like (1);	0.000000	0.64402	U	0.000010	T	0.56601	0.1996	M	0.69358	2.11	0.80722	D	1	P	0.40578	0.722	P	0.45946	0.498	T	0.50499	-0.8821	10	0.26408	T	0.33	-11.3062	19.3658	0.94461	0.0:1.0:0.0:0.0	.	112	Q9BRX2	PELO_HUMAN	V	112	ENSP00000274311:L112V	ENSP00000274311:L112V	L	+	1	2	PELO	52132319	0.991000	0.36638	1.000000	0.80357	0.953000	0.61014	2.800000	0.47900	2.665000	0.90641	0.563000	0.77884	CTG		0.597	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		8	27	0	0	0	0.00308	0	8	27				
ADAMTS6	11174	broad.mit.edu	37	5	64625273	64625273	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:64625273C>G	ENST00000536360.1	-	9	1968	c.1155G>C	c.(1153-1155)agG>agC	p.R385S				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	385	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TGCTGCAGCTCCTTTCAGGCT	0.413																																							uc003jtp.2		NA																	0					0						c.(1153-1155)AGG>AGC		ADAM metallopeptidase with thrombospondin type 1							76.0	66.0	69.0					5																	64625273		2203	4300	6503	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64625273C>G	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1155G>C	5.37:g.64625273C>G	ENSP00000440995:p.Arg385Ser					ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R6S	p.R385S	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	9	1969	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	385			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.1155G>C		.	.	.	.	.	.	.	.	.	.	C	16.31	3.086959	0.55861	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	D;D;D	0.87334	-2.24;-2.24;-2.24	5.89	3.1	0.35709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.040202	0.85682	N	0.000000	D	0.87997	0.6319	L	0.38692	1.165	0.58432	D	0.999997	D;D	0.67145	0.987;0.996	D;D	0.71414	0.96;0.973	D	0.86746	0.1957	10	0.72032	D	0.01	.	8.0698	0.30682	0.1307:0.7314:0.0:0.1379	.	385;385	D6R9L6;Q9UKP5	.;ATS6_HUMAN	S	385	ENSP00000370443:R385S;ENSP00000423551:R385S;ENSP00000440995:R385S	ENSP00000261306:R385S	R	-	3	2	ADAMTS6	64661029	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.964000	0.40462	0.798000	0.33994	0.591000	0.81541	AGG		0.413	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		25	9	0	0	0	0.008361	0	25	9				
MRPS27	23107	broad.mit.edu	37	5	71616013	71616013	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:71616013C>A	ENST00000261413.5	-	1	75	c.36G>T	c.(34-36)ctG>ctT	p.L12L	MRPS27_ENST00000522095.1_Silent_p.L12L|PTCD2_ENST00000536805.1_5'Flank|PTCD2_ENST00000543322.1_5'Flank|MRPS27_ENST00000457646.4_5'UTR|MRPS27_ENST00000513900.1_Silent_p.L12L|PTCD2_ENST00000503868.1_5'Flank|PTCD2_ENST00000380639.5_5'Flank|MRPS27_ENST00000515404.1_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	12						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CTTGCCGCGCCAGGAGCATCC	0.592																																							uc003kbz.3		NA																	0					0						c.(34-36)CTG>CTT		mitochondrial ribosomal protein S27							47.0	48.0	47.0					5																	71616013		2203	4300	6503	SO:0001819	synonymous_variant	23107					mitochondrion|ribosome		g.chr5:71616013C>A	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.36G>T	5.37:g.71616013C>A						MRPS27_uc003kca.3_5'UTR|MRPS27_uc011cse.1_Silent_p.L12L|MRPS27_uc010iza.2_5'UTR|PTCD2_uc011csf.1_5'Flank|PTCD2_uc003kcb.2_5'Flank|PTCD2_uc003kcc.2_5'Flank|PTCD2_uc011csg.1_5'Flank|PTCD2_uc011csh.1_5'Flank|PTCD2_uc003kcd.2_5'Flank	p.L12L	NM_015084	NP_055899	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	1	72	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	12					B4DRT2|Q6P1S1	Silent	SNP	ENST00000261413.5	37	c.36G>T	CCDS4013.1																																																																																				0.592	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		22	8	1	0	4.26978e-12	0.00333	5.98672e-12	22	8				
RAD50	10111	broad.mit.edu	37	5	131895051	131895051	+	Missense_Mutation	SNP	G	G	T	rs370769989		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:131895051G>T	ENST00000265335.6	+	2	592	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	69					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.D69Y(1)|p.D69N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTACACGATCCCAAGGT	0.284								Homologous recombination																															uc003kxi.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(205-207)GAT>TAT	Homologous_recombination	RAD50 homolog isoform 1							56.0	60.0	59.0					5																	131895051		2202	4292	6494	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131895051G>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.205G>T	5.37:g.131895051G>T	ENSP00000265335:p.Asp69Tyr					RAD50_uc003kxg.1_5'UTR|RAD50_uc003kxh.2_5'UTR	p.D69Y	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	592	+		all_cancers(142;0.0368)|Breast(839;0.198)	69					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.205G>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120854	0.77436	.	.	ENSG00000113522	ENST00000265335;ENST00000453394	T;T	0.18016	2.24;2.24	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65142	-0.6240	10	0.87932	D	0	-19.8593	15.7613	0.78082	0.0:0.0:1.0:0.0	.	69	Q92878	RAD50_HUMAN	Y	69	ENSP00000265335:D69Y;ENSP00000400049:D69Y	ENSP00000265335:D69Y	D	+	1	0	RAD50	131922950	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.829000	0.92055	2.288000	0.76882	0.491000	0.48974	GAT		0.284	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		21	8	1	0	3.7963e-18	0.00333	5.78173e-18	21	8				
PCDHGA1	56114	broad.mit.edu	37	5	140711076	140711076	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:140711076G>T	ENST00000517417.1	+	1	825	c.825G>T	c.(823-825)ggG>ggT	p.G275G	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.G275G	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	275	Cadherin 3. {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)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCAATGGGGAAGTAACGT	0.438																																							uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(823-825)GGG>GGT		protocadherin gamma subfamily A, 1 isoform 1							67.0	67.0	67.0					5																	140711076		2203	4300	6503	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711076G>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.825G>T	5.37:g.140711076G>T						PCDHGA1_uc011dan.1_Silent_p.G275G	p.G275G	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	825	+			275			Cadherin 3.|Extracellular (Potential).		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.825G>T	CCDS54922.1																																																																																				0.438	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		23	36	1	0	3.5997e-14	0.002299	5.21268e-14	23	36				
PCDHGA2	56113	broad.mit.edu	37	5	140719315	140719315	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:140719315C>A	ENST00000394576.2	+	1	777	c.777C>A	c.(775-777)acC>acA	p.T259T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	259	Cadherin 3. {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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGGGCACCCGGATACTCA	0.537																																							uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(775-777)ACC>ACA		protocadherin gamma subfamily A, 2 isoform 1							70.0	76.0	74.0					5																	140719315		2203	4299	6502	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719315C>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.777C>A	5.37:g.140719315C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.T259T	p.T259T	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	962	+			259			Cadherin 3.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.777C>A	CCDS47289.1																																																																																				0.537	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		57	93	1	0	3.07002e-29	0.00361	5.08471e-29	57	93				
PCDHGA11	56105	broad.mit.edu	37	5	140802988	140802988	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:140802988G>T	ENST00000398587.2	+	1	2227	c.2194G>T	c.(2194-2196)Ggg>Tgg	p.G732W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGAAGGCGGGTTGGCAGG	0.587																																							uc003lkq.1		NA																	0					0						c.(2194-2196)GGG>TGG		protocadherin gamma subfamily A, 11 isoform 1							45.0	51.0	49.0					5																	140802988		2201	4299	6500	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802988G>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.2194G>T	5.37:g.140802988G>T	ENSP00000381589:p.Gly732Trp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.G732W|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank	p.G732W	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2452	+			732			Cytoplasmic (Potential).		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.2194G>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889939	0.52014	.	.	ENSG00000253873	ENST00000398587	T	0.48522	0.81	5.2	-1.46	0.08800	.	.	.	.	.	T	0.65407	0.2688	M	0.91972	3.26	0.09310	N	1	D;D	0.67145	0.996;0.967	P;D	0.65233	0.858;0.933	T	0.54443	-0.8293	9	0.72032	D	0.01	.	3.0023	0.06017	0.1358:0.2766:0.3899:0.1977	.	732;732	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	W	732	ENSP00000381589:G732W	ENSP00000381589:G732W	G	+	1	0	PCDHGA11	140783172	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.465000	0.06680	0.020000	0.15106	0.655000	0.94253	GGG		0.587	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		38	82	1	0	3.76114e-14	0.004289	5.41685e-14	38	82				
ARHGAP26	23092	broad.mit.edu	37	5	142500655	142500655	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:142500655C>T	ENST00000274498.4	+	18	2019	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	ARHGAP26_ENST00000378004.3_Silent_p.I547I	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	547	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGCAGCCATCATGGACATCA	0.433																																							uc011dbj.1		NA																	0				ovary(1)	1						c.(1639-1641)ATC>ATT		GTPase regulator associated with the focal							140.0	132.0	135.0					5																	142500655		2203	4300	6503	SO:0001819	synonymous_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142500655C>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1641C>T	5.37:g.142500655C>T						ARHGAP26_uc003lmt.2_Silent_p.I547I|ARHGAP26_uc003lmw.2_Silent_p.I547I	p.I547I	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	1676	+		all_hematologic(541;0.0416)	547			Rho-GAP.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	c.1641C>T	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	C	9.914	1.210292	0.22289	.	.	ENSG00000145819	ENST00000443674;ENST00000418236	.	.	.	5.38	1.57	0.23409	.	.	.	.	.	T	0.52125	0.1715	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38693	-0.9649	4	.	.	.	.	5.7034	0.17895	0.129:0.5501:0.0:0.3209	.	.	.	.	L	166;119	.	.	S	+	2	0	ARHGAP26	142480848	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.888000	0.39708	0.255000	0.21593	-0.137000	0.14449	TCA		0.433	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		41	85	0	0	0	0.006999	0	41	85				
PDE6A	5145	broad.mit.edu	37	5	149247676	149247676	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:149247676G>T	ENST00000255266.5	-	18	2300	c.2181C>A	c.(2179-2181)ccC>ccA	p.P727P		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	727					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GCACCTCCCAGGGTTTGGTGA	0.567																																							uc003lrg.3		NA																	0				ovary(1)|pancreas(1)	2						c.(2179-2181)CCC>CCA		phosphodiesterase 6A							145.0	126.0	133.0					5																	149247676		2203	4300	6503	SO:0001819	synonymous_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149247676G>T		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2181C>A	5.37:g.149247676G>T							p.P727P	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		18	2301	-			727					Q0P638	Silent	SNP	ENST00000255266.5	37	c.2181C>A	CCDS4299.1																																																																																				0.567	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			54	49	1	0	3.28156e-27	0.00361	5.30251e-27	54	49				
ADAM19	8728	broad.mit.edu	37	5	156997967	156997967	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:156997967G>T	ENST00000517905.1	-	2	160	c.116C>A	c.(115-117)cCc>cAc	p.P39H	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000257527.4_Missense_Mutation_p.P39H|AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000394020.1_Missense_Mutation_p.P41H			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	39					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCAGCTTGGGGCTGCCTTC	0.488																																							uc003lwz.2		NA																	0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(115-117)CCC>CAC		ADAM metallopeptidase domain 19 preproprotein							103.0	101.0	102.0					5																	156997967		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156997967G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.116C>A	5.37:g.156997967G>T	ENSP00000428654:p.Pro39His					ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_5'UTR	p.P39H	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	180	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	39					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.116C>A		.	.	.	.	.	.	.	.	.	.	G	11.41	1.629567	0.28978	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01505	4.84;4.84;4.82	5.03	1.18	0.20946	.	0.370551	0.23164	N	0.051201	T	0.03827	0.0108	L	0.50333	1.59	0.23677	N	0.997131	D	0.58268	0.982	P	0.55999	0.789	T	0.39663	-0.9603	10	0.33141	T	0.24	.	7.8452	0.29421	0.3695:0.0:0.6305:0.0	.	39	Q9H013-2	.	H	39;41;39	ENSP00000257527:P39H;ENSP00000377588:P41H;ENSP00000428654:P39H	ENSP00000257527:P39H	P	-	2	0	ADAM19	156930545	0.012000	0.17670	0.469000	0.27204	0.709000	0.40893	0.965000	0.29319	0.247000	0.21414	-0.136000	0.14681	CCC		0.488	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		45	41	1	0	2.51966e-14	0.00361	3.66874e-14	45	41				
BCKDHB	594	broad.mit.edu	37	6	80878701	80878701	+	Missense_Mutation	SNP	A	A	C	rs398124585		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:80878701A>C	ENST00000320393.6	+	5	634	c.587A>C	c.(586-588)cAt>cCt	p.H196P	BCKDHB_ENST00000545529.1_Missense_Mutation_p.H196P|BCKDHB_ENST00000356489.5_Missense_Mutation_p.H196P|BCKDHB_ENST00000369760.4_Missense_Mutation_p.H196P	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	196					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GCTCTCTATCATTCTCAGAGT	0.433																																							uc003pjd.2		NA																	0					0						c.(586-588)CAT>CCT		branched chain keto acid dehydrogenase E1 beta							145.0	146.0	146.0					6																	80878701		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80878701A>C	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.587A>C	6.37:g.80878701A>C	ENSP00000318351:p.His196Pro					BCKDHB_uc003pje.2_Missense_Mutation_p.H196P	p.H196P	NM_000056	NP_000047	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	5	654	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	196					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.587A>C	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152627	0.78001	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.21	5.21	0.72293	Transketolase-like, pyrimidine-binding domain (2);	0.086833	0.85682	D	0.000000	D	0.98248	0.9420	H	0.99975	5.15	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99019	1.0817	10	0.87932	D	0	-8.7249	14.3132	0.66429	1.0:0.0:0.0:0.0	.	196	P21953	ODBB_HUMAN	P	196;196;196;196;126	ENSP00000358775:H196P;ENSP00000318351:H196P;ENSP00000348880:H196P;ENSP00000443564:H196P	ENSP00000318351:H196P	H	+	2	0	BCKDHB	80935420	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.858000	0.92256	1.979000	0.57680	0.472000	0.43445	CAT		0.433	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		19	54	0	0	0	0.007413	0	19	54				
LAMA4	3910	broad.mit.edu	37	6	112469529	112469529	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:112469529T>G	ENST00000230538.7	-	18	2580	c.2183A>C	c.(2182-2184)cAg>cCg	p.Q728P	LAMA4_ENST00000389463.4_Missense_Mutation_p.Q721P|LAMA4_ENST00000522006.1_Missense_Mutation_p.Q721P|LAMA4_ENST00000424408.2_Missense_Mutation_p.Q721P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	728	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGGCGCTGCTGGGCATCCCC	0.537																																							uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2182-2184)CAG>CCG		laminin, alpha 4 isoform 1 precursor							63.0	60.0	61.0					6																	112469529		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112469529T>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2183A>C	6.37:g.112469529T>G	ENSP00000230538:p.Gln728Pro					LAMA4_uc003pvv.2_Missense_Mutation_p.Q721P|LAMA4_uc003pvt.2_Missense_Mutation_p.Q721P	p.Q728P	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	18	2492	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	728			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2183A>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708631	0.30322	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.13778	2.58;2.56;2.56;2.56	5.53	4.38	0.52667	.	0.728158	0.14244	N	0.331861	T	0.02083	0.0065	N	0.03608	-0.345	0.80722	D	1	B;B	0.29766	0.002;0.256	B;B	0.31547	0.001;0.132	T	0.45323	-0.9269	10	0.24483	T	0.36	.	7.9125	0.29800	0.0:0.0904:0.0:0.9096	.	728;721	Q16363;Q16363-2	LAMA4_HUMAN;.	P	728;721;721;721	ENSP00000230538:Q728P;ENSP00000429488:Q721P;ENSP00000374114:Q721P;ENSP00000416470:Q721P	ENSP00000230538:Q728P	Q	-	2	0	LAMA4	112576222	0.931000	0.31567	0.883000	0.34634	0.890000	0.51754	1.273000	0.33121	1.122000	0.41944	0.533000	0.62120	CAG		0.537	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		6	18	0	0	0	0.001984	0	6	18				
NT5DC1	221294	broad.mit.edu	37	6	116429571	116429571	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:116429571A>C	ENST00000319550.4	+	3	312	c.230A>C	c.(229-231)aAa>aCa	p.K77T		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	77							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AACTTCCTTAAACTTGCAAAT	0.343																																					Colon(128;1440 1664 38087 41475 42869)	Colon(128;1440 1664 38087 41475 42869)	uc003pwj.2		NA																	0					0						c.(229-231)AAA>ACA		5'-nucleotidase, cytosolic II-like 1 protein							101.0	101.0	101.0					6																	116429571		2203	4297	6500	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116429571A>C	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.230A>C	6.37:g.116429571A>C	ENSP00000326858:p.Lys77Thr					NT5DC1_uc003pwk.2_Missense_Mutation_p.K77T|NT5DC1_uc003pwl.2_5'Flank	p.K77T	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	3	325	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	77					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.230A>C	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150426	0.78001	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791	T;T	0.48201	0.82;0.82	5.15	5.15	0.70609	HAD-like domain (1);	0.049734	0.85682	D	0.000000	T	0.64757	0.2627	M	0.84326	2.69	0.54753	D	0.999986	D;D	0.89917	0.998;1.0	D;D	0.97110	0.987;1.0	T	0.71869	-0.4462	10	0.87932	D	0	-15.6536	14.2501	0.66013	1.0:0.0:0.0:0.0	.	77;77	A8K2Z3;Q5TFE4	.;NT5D1_HUMAN	T	77	ENSP00000326858:K77T;ENSP00000393578:K77T	ENSP00000326858:K77T	K	+	2	0	NT5DC1	116536264	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.591000	0.74090	2.084000	0.62774	0.528000	0.53228	AAA		0.343	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		26	6	0	0	0	0.008361	0	26	6				
COL10A1	1300	broad.mit.edu	37	6	116442887	116442887	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:116442887G>T	ENST00000327673.4	-	2	799	c.392C>A	c.(391-393)cCa>cAa	p.P131Q	COL10A1_ENST00000243222.4_Missense_Mutation_p.P131Q|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.G90C			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	131	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TAGGCCAGCTGGTCCAACATC	0.597																																							uc003pwm.2		NA																	0				central_nervous_system(1)	1						c.(391-393)CCA>CAA		type X collagen alpha 1 precursor							60.0	53.0	56.0					6																	116442887		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442887G>T		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.392C>A	6.37:g.116442887G>T	ENSP00000327368:p.Pro131Gln					NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	p.P131Q	NM_000493	NP_000484	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	3	488	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	131			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.392C>A	CCDS5105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.80|18.80	3.701367|3.701367	0.68501|0.68501	.|.	.|.	ENSG00000234188|ENSG00000123500	ENST00000430695|ENST00000243222;ENST00000327673;ENST00000452729	.|D;D;D	.|0.98684	.|-5.07;-5.07;-4.17	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.056255	.|0.64402	.|D	.|0.000001	D|D	0.98689|0.98689	0.9560|0.9560	M|M	0.72353|0.72353	2.195|2.195	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	D|D	0.99160|0.99160	1.0861|1.0861	6|10	0.56958|0.13853	D|T	0.05|0.58	.|.	19.3431|19.3431	0.94352|0.94352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|131	.|Q03692	.|COAA1_HUMAN	C|Q	90|131	.|ENSP00000243222:P131Q;ENSP00000327368:P131Q;ENSP00000411285:P131Q	ENSP00000415795:G90C|ENSP00000243222:P131Q	G|P	+|-	1|2	0|0	AL121963.1|COL10A1	116549580|116549580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	7.780000|7.780000	0.85658|0.85658	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GGT|CCA		0.597	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			20	5	1	0	0.000175454	0.001523	0.000201279	20	5				
VGLL2	245806	broad.mit.edu	37	6	117586942	117586942	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:117586942G>A	ENST00000326274.5	+	1	206	c.16G>A	c.(16-18)Gtt>Att	p.V6I	VGLL2_ENST00000352536.3_Missense_Mutation_p.V6I	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	6					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CTGTCTGGATGTTATGTACCA	0.577																																							uc003pxn.2		NA																	0				central_nervous_system(1)	1						c.(16-18)GTT>ATT		vestigial-like 2 isoform 1							114.0	93.0	100.0					6																	117586942		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117586942G>A	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.16G>A	6.37:g.117586942G>A	ENSP00000320957:p.Val6Ile					VGLL2_uc003pxo.2_Missense_Mutation_p.V6I	p.V6I	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	1	206	+			6					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.16G>A	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234181	0.95207	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.64438	-0.1	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.66954	0.2842	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.76494	0.99;0.999	D;D	0.76071	0.978;0.987	T	0.70139	-0.4954	10	0.59425	D	0.04	-3.2482	18.6631	0.91478	0.0:0.0:1.0:0.0	.	6;6	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	I	6	ENSP00000320957:V6I	ENSP00000320957:V6I	V	+	1	0	VGLL2	117693635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.072000	0.93986	2.422000	0.82143	0.563000	0.77884	GTT		0.577	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		25	8	0	0	0	0.004656	0	25	8				
TAAR6	319100	broad.mit.edu	37	6	132892340	132892340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:132892340G>T	ENST00000275198.1	+	1	880	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	294					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CTGTATTTATGAGATTTGCTG	0.353																																							uc011eck.1		NA																	0				ovary(2)|skin(1)	3						c.(880-882)GAG>TAG		trace amine associated receptor 6							118.0	121.0	120.0					6																	132892340		2203	4300	6503	SO:0001587	stop_gained	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132892340G>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.880G>T	6.37:g.132892340G>T	ENSP00000275198:p.Glu294*						p.E294*	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	880	+	Breast(56;0.112)		294			Helical; Name=7; (Potential).		Q5VUQ4	Nonsense_Mutation	SNP	ENST00000275198.1	37	c.880G>T	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725933	0.89298	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	.	.	.	5.11	5.11	0.69529	.	0.100640	0.38436	N	0.001683	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.9202	12.1006	0.53780	0.0783:0.0:0.9217:0.0	.	.	.	.	X	294;269	.	ENSP00000275198:E294X	E	+	1	0	TAAR6	132934033	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	5.300000	0.65721	2.639000	0.89480	0.650000	0.86243	GAG		0.353	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		63	19	1	0	3.41413e-29	0.00361	5.61953e-29	63	19				
TCP10	6953	broad.mit.edu	37	6	167789539	167789539	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:167789539C>A	ENST00000397829.4	-	6	770	c.603G>T	c.(601-603)ccG>ccT	p.P201P	TCP10_ENST00000366827.2_Silent_p.P201P	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	228						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGAGTTTTGCGGACTTCGGG	0.612																																							uc003qvv.1		NA																	0				breast(1)	1						c.(601-603)CCG>CCT		t-complex 10							41.0	42.0	42.0					6																	167789539		1962	4172	6134	SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167789539C>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.603G>T	6.37:g.167789539C>A						TCP10_uc003qvu.2_Silent_p.P201P|TCP10_uc003qvw.2_3'UTR	p.P201P	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	6	815	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	228					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.603G>T	CCDS43527.1																																																																																				0.612	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		8	11	1	0	3.09899e-07	0.004482	3.9673e-07	8	11				
ANKMY2	57037	broad.mit.edu	37	7	16666726	16666726	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:16666726G>A	ENST00000306999.2	-	3	453	c.210C>T	c.(208-210)gcC>gcT	p.A70A	ANKMY2_ENST00000421746.1_5'UTR	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	70						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AATTTACATCGGCTCCATGTC	0.358																																							uc003sti.2		NA																	0				central_nervous_system(1)	1						c.(208-210)GCC>GCT		ankyrin repeat and MYND domain containing 2							96.0	84.0	88.0					7																	16666726		2203	4300	6503	SO:0001819	synonymous_variant	57037					cilium	zinc ion binding	g.chr7:16666726G>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.210C>T	7.37:g.16666726G>A						ANKMY2_uc010ktz.2_RNA	p.A70A	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	3	410	-	Lung NSC(10;0.103)|all_lung(11;0.204)		70			ANK 1.		A4D124|Q659G1|Q96BL3	Silent	SNP	ENST00000306999.2	37	c.210C>T	CCDS5361.1																																																																																				0.358	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		5	20	0	0	0	0.008291	0	5	20				
NPC1L1	29881	broad.mit.edu	37	7	44573443	44573443	+	Missense_Mutation	SNP	G	G	A	rs149392392		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:44573443G>A	ENST00000289547.4	-	7	2231	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	NPC1L1_ENST00000546276.1_Missense_Mutation_p.R726W|NPC1L1_ENST00000423141.1_Intron|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R726W	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	726	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCAGGCCTCCGGGGCAGCCTC	0.652																																							uc003tlb.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2176-2178)CGG>TGG		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)	G	TRP/ARG,TRP/ARG	1,4405		0,1,2202	18.0	19.0	19.0		2176,2176	-0.1	0.0	7	dbSNP_134	19	0,8594		0,0,4297	yes	missense,missense	NPC1L1	NM_001101648.1,NM_013389.2	101,101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	726/1333,726/1360	44573443	1,12999	2203	4297	6500	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44573443G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2176C>T	7.37:g.44573443G>A	ENSP00000289547:p.Arg726Trp					NPC1L1_uc003tlc.2_Missense_Mutation_p.R726W|NPC1L1_uc011kbw.1_Missense_Mutation_p.R726W|NPC1L1_uc003tld.2_Intron	p.R726W	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			7	2232	-			726			SSD.|Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2176C>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	11.21	1.573031	0.28092	2.27E-4	0.0	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.96041	-3.89;-3.89;-3.89	4.33	-0.132	0.13489	.	0.371485	0.27068	N	0.021087	D	0.93213	0.7838	M	0.82823	2.61	0.18873	N	0.999985	B;P;P	0.44429	0.237;0.589;0.835	B;B;B	0.39185	0.076;0.168;0.293	D	0.87273	0.2287	10	0.59425	D	0.04	-19.2785	6.3059	0.21139	0.0949:0.0:0.3956:0.5096	.	726;726;726	B7ZLE6;Q17RV5;D3DVK9	.;.;.	W	726	ENSP00000289547:R726W;ENSP00000370552:R726W;ENSP00000438033:R726W	ENSP00000289547:R726W	R	-	1	2	NPC1L1	44539968	0.915000	0.31059	0.033000	0.17914	0.621000	0.37620	1.712000	0.37940	-0.227000	0.09884	0.561000	0.74099	CGG		0.652	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		9	24	0	0	0	0.004482	0	9	24				
RBM48	84060	broad.mit.edu	37	7	92158138	92158138	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:92158138G>T	ENST00000265732.5	+	1	52	c.11G>T	c.(10-12)aGc>aTc	p.S4I	PEX1_ENST00000438045.1_5'Flank|RBM48_ENST00000481551.1_Missense_Mutation_p.S4I|PEX1_ENST00000428214.1_5'Flank|PEX1_ENST00000248633.4_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	4						nucleus (GO:0005634)	RNA binding (GO:0003723)										ATGGCGTCGAGCGGCGGGGAG	0.562																																							uc003ulz.2		NA																	0				ovary(2)	2						c.(10-12)AGC>ATC		hypothetical protein LOC84060							55.0	59.0	58.0					7																	92158138		1961	4133	6094	SO:0001583	missense	84060						nucleotide binding	g.chr7:92158138G>T	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.11G>T	7.37:g.92158138G>T	ENSP00000265732:p.Ser4Ile					PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Missense_Mutation_p.S4I|C7orf64_uc003uma.2_Missense_Mutation_p.S4I	p.S4I	NM_032120	NP_115496	Q5RL73	CG064_HUMAN			1	52	+			4					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.11G>T	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137751	0.56936	.	.	ENSG00000127993	ENST00000509224;ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	4.77	0.772	0.18510	.	0.621750	0.19117	N	0.122298	T	0.30198	0.0757	L	0.56769	1.78	0.09310	N	1	P;P;P	0.41265	0.744;0.638;0.664	B;B;B	0.40038	0.168;0.125;0.317	T	0.19031	-1.0318	9	0.72032	D	0.01	-1.7078	4.3673	0.11230	0.1381:0.124:0.6095:0.1284	.	4;4;4	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	I	6;4;4;4	.	ENSP00000265732:S4I	S	+	2	0	C7orf64	91996074	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	1.060000	0.30530	0.027000	0.15297	0.561000	0.74099	AGC		0.562	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		8	20	1	0	5.18039e-06	0.00308	6.53716e-06	8	20				
DYNC1I1	1780	broad.mit.edu	37	7	95726812	95726812	+	Silent	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:95726812T>C	ENST00000324972.6	+	17	2038	c.1845T>C	c.(1843-1845)aaT>aaC	p.N615N	DYNC1I1_ENST00000437599.1_Silent_p.N595N|DYNC1I1_ENST00000457059.1_Silent_p.N598N|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000359388.4_Silent_p.N578N|DYNC1I1_ENST00000447467.2_Silent_p.N598N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	615					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTCCCCACAATGATGAATGGA	0.453																																							uc003uoc.3		NA																	0				ovary(3)|kidney(1)	4						c.(1843-1845)AAT>AAC		dynein, cytoplasmic 1, intermediate chain 1							130.0	121.0	124.0					7																	95726812		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95726812T>C	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1845T>C	7.37:g.95726812T>C						DYNC1I1_uc003uod.3_Silent_p.N598N|DYNC1I1_uc003uob.2_Silent_p.N578N|DYNC1I1_uc003uoe.3_Silent_p.N595N|DYNC1I1_uc010lfl.2_Silent_p.N604N	p.N615N	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		17	2122	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		615			WD 7.		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1845T>C	CCDS5644.1																																																																																				0.453	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		36	33	0	0	0	0.00874	0	36	33				
CDHR3	222256	broad.mit.edu	37	7	105653351	105653351	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:105653351C>T	ENST00000317716.9	+	9	1178	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Silent_p.D366D|CDHR3_ENST00000343407.5_Silent_p.D83D|CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000478080.1_Silent_p.D278D	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	366	Cadherin 4. {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)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGCTTCTTGACCTAAACAAGT	0.468																																							uc003vdl.3		NA																	0				ovary(1)	1						c.(1096-1098)GAC>GAT		hypothetical protein LOC222256 precursor							255.0	241.0	245.0					7																	105653351		2010	4199	6209	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105653351C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1098C>T	7.37:g.105653351C>T						CDHR3_uc003vdk.2_Silent_p.D14D|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Silent_p.D353D|CDHR3_uc011klt.1_Silent_p.D278D|CDHR3_uc003vdn.2_Silent_p.D83D	p.D366D	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			9	1206	+			366			Cadherin 4.|Extracellular (Potential).		Q8TCI7	Silent	SNP	ENST00000317716.9	37	c.1098C>T	CCDS47684.1																																																																																				0.468	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		6	192	0	0	0	0.001168	0	6	192				
PNPLA8	50640	broad.mit.edu	37	7	108155242	108155242	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:108155242C>A	ENST00000422087.1	-	4	1100	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	PNPLA8_ENST00000436062.1_Missense_Mutation_p.D232Y|PNPLA8_ENST00000388728.5_Missense_Mutation_p.D232Y|PNPLA8_ENST00000426128.2_Missense_Mutation_p.D232Y|PNPLA8_ENST00000257694.8_Missense_Mutation_p.D232Y|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.D132Y	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	232					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCTGATTTGTCCCGGAAATGT	0.343																																							uc003vff.1		NA																	0				breast(2)	2						c.(694-696)GAC>TAC		patatin-like phospholipase domain containing 8							63.0	59.0	60.0					7																	108155242		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155242C>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.694G>T	7.37:g.108155242C>A	ENSP00000410804:p.Asp232Tyr					PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.D232Y|PNPLA8_uc003vfi.1_Missense_Mutation_p.D132Y|PNPLA8_uc003vfj.1_Missense_Mutation_p.D232Y|PNPLA8_uc003vfk.1_Missense_Mutation_p.D132Y	p.D232Y	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN			4	1101	-			232					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.694G>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	7.065	0.567166	0.13560	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.97994	-3.45;-4.65;-3.45;-4.65;-4.63;-4.65;-4.63	5.78	3.87	0.44632	.	1.318900	0.04665	N	0.409628	D	0.95050	0.8397	L	0.40543	1.245	0.09310	N	1	P	0.42357	0.777	B	0.36766	0.232	D	0.89899	0.4043	10	0.72032	D	0.01	.	6.0442	0.19750	0.108:0.6215:0.1865:0.084	.	232	Q9NP80	PLPL8_HUMAN	Y	232;232;232;232;132;232;132	ENSP00000394988:D232Y;ENSP00000257694:D232Y;ENSP00000373380:D232Y;ENSP00000410804:D232Y;ENSP00000387789:D132Y;ENSP00000406779:D232Y;ENSP00000402274:D132Y	ENSP00000257694:D232Y	D	-	1	0	PNPLA8	107942478	0.002000	0.14202	0.391000	0.26233	0.361000	0.29550	0.523000	0.22925	1.437000	0.47472	0.591000	0.81541	GAC		0.343	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		22	19	1	0	1.64113e-05	0.001523	1.98585e-05	22	19				
SSU72P8	136157	broad.mit.edu	37	7	124116822	124116822	+	IGR	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:124116822C>A								RP5-921G16.1 (81650 upstream) : RNU6-102P (170950 downstream)																							ACCTTTCAGCCTGTGCACGTG	0.498																																							uc011kod.1		NA																	0					NA						c.(397-399)CCT>CAT		RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;							65.0	62.0	63.0					7																	124116822		1929	4157	6086	SO:0001628	intergenic_variant	0							g.chr7:124116822C>A																													7.37:g.124116822C>A							p.P133H	NM_001085395	NP_001078864					1	398	+									Missense_Mutation	SNP		37	c.398C>A																																																																																				0	0.498									7	42	1	0	0.00198382	0.001984	0.00222759	7	42				
ZNF800	168850	broad.mit.edu	37	7	127013707	127013707	+	Silent	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:127013707T>A	ENST00000393313.1	-	5	2274	c.1683A>T	c.(1681-1683)atA>atT	p.I561I	ZNF800_ENST00000393312.1_Silent_p.I561I|ZNF800_ENST00000265827.3_Silent_p.I561I|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TAGGCTTTTTTATAGCTCTGA	0.373																																							uc003vlx.1		NA																	0				ovary(1)	1						c.(1681-1683)ATA>ATT		zinc finger protein 800							77.0	80.0	79.0					7																	127013707		2202	4299	6501	SO:0001819	synonymous_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013707T>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1683A>T	7.37:g.127013707T>A						ZNF800_uc003vlw.1_Silent_p.I464I|ZNF800_uc003vly.1_Silent_p.I561I|ZNF800_uc010lla.2_Silent_p.I561I	p.I561I	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	1946	-			561					Q9HBN0	Silent	SNP	ENST00000393313.1	37	c.1683A>T	CCDS5795.1																																																																																				0.373	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		30	33	0	0	0	0.00632	0	30	33				
CNTNAP2	26047	broad.mit.edu	37	7	146997361	146997361	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:146997361G>T	ENST00000361727.3	+	9	1993	c.1477G>T	c.(1477-1479)Ggc>Tgc	p.G493C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	493	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGTTAAAACTGGCGAGAAGTA	0.378										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1477-1479)GGC>TGC		cell recognition molecule Caspr2 precursor							113.0	106.0	108.0					7																	146997361		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146997361G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1477G>T	7.37:g.146997361G>T	ENSP00000354778:p.Gly493Cys	HNSCC(39;0.1)					p.G493C	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		9	1993	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	493			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1477G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711806	0.68730	.	.	ENSG00000174469	ENST00000361727	T	0.77877	-1.13	5.95	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000006	D	0.88489	0.6450	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89265	0.3600	10	0.87932	D	0	.	11.9558	0.52981	0.1411:0.0:0.8589:0.0	.	493	Q9UHC6	CNTP2_HUMAN	C	493	ENSP00000354778:G493C	ENSP00000354778:G493C	G	+	1	0	CNTNAP2	146628294	1.000000	0.71417	0.767000	0.31495	0.820000	0.46376	5.239000	0.65371	0.874000	0.35823	-0.219000	0.12488	GGC		0.378	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			20	34	1	0	2.4624e-09	0.008871	3.31236e-09	20	34				
SSPO	23145	broad.mit.edu	37	7	149512270	149512270	+	RNA	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:149512270G>T	ENST00000378016.2	+	0	10590							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TAGACTGCGGGGGTGGCCAGA	0.667																																							uc010lpk.2		NA																	0					0						c.(10588-10590)GGG>GGT		SCO-spondin precursor							37.0	44.0	42.0					7																	149512270		2059	4183	6242			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149512270G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512270G>T							p.G3530G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		76	10590	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3530					Q76B61	Silent	SNP	ENST00000378016.2	37	c.10590G>T																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				20	28	1	0	1.85244e-09	0.00333	2.50458e-09	20	28				
CSMD1	64478	broad.mit.edu	37	8	2796146	2796146	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:2796146C>A	ENST00000520002.1	-	71	11214	c.10659G>T	c.(10657-10659)agG>agT	p.R3553S	CSMD1_ENST00000537824.1_Missense_Mutation_p.R3552S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R3376S|CSMD1_ENST00000602723.1_Missense_Mutation_p.R3376S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3375S|CSMD1_ENST00000602557.1_Missense_Mutation_p.R3553S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3553						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGTGTCAAACCTCACAGCCT	0.463																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(10657-10659)AGG>AGT		CUB and Sushi multiple domains 1 precursor							218.0	204.0	209.0					8																	2796146		1965	4150	6115	SO:0001583	missense	64478					integral to membrane		g.chr8:2796146C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10659G>T	8.37:g.2796146C>A	ENSP00000430733:p.Arg3553Ser					CSMD1_uc011kwj.1_Missense_Mutation_p.R2867S|CSMD1_uc010lrg.2_Missense_Mutation_p.R1444S	p.R3553S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	70	11049	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3553			Cytoplasmic (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.10659G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.051199|4.051199	0.75960|0.75960	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.31769|.	1.48;1.68;1.71;1.48|.	5.92|5.92	2.04|2.04	0.26737|0.26737	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.57548|0.57548	0.2061|0.2061	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;D|.	0.69078|.	0.919;0.895;0.997|.	B;P;D|.	0.81914|.	0.324;0.496;0.995|.	T|T	0.48779|0.48779	-0.9005|-0.9005	10|5	0.72032|.	D|.	0.01|.	.|.	6.9735|6.9735	0.24662|0.24662	0.1202:0.4513:0.3643:0.0642|0.1202:0.4513:0.3643:0.0642	.|.	3553;3553;3375|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	S|F	3376;3553;3414;3552;3375|2955	ENSP00000383047:R3376S;ENSP00000430733:R3553S;ENSP00000441462:R3552S;ENSP00000446243:R3375S|.	ENSP00000320445:R3414S|.	R|V	-|-	3|1	2|0	CSMD1|CSMD1	2783553|2783553	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	0.465000|0.465000	0.22004|0.22004	0.084000|0.084000	0.17077|0.17077	0.655000|0.655000	0.94253|0.94253	AGG|GTT		0.463	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		9	5	1	0	5.68852e-11	0.004482	7.85135e-11	9	5				
DEFA5	1670	broad.mit.edu	37	8	6914118	6914118	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:6914118C>A	ENST00000330590.2	-	1	138	c.102G>T	c.(100-102)caG>caT	p.Q34H		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	34					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTTCCCCAGACTGCTTCTGGG	0.537																																							uc003wra.1		NA																	0					0						c.(100-102)CAG>CAT		defensin, alpha 5 preproprotein							154.0	139.0	144.0					8																	6914118		2203	4300	6503	SO:0001583	missense	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6914118C>A	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.102G>T	8.37:g.6914118C>A	ENSP00000329890:p.Gln34His						p.Q34H	NM_021010	NP_066290	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	142	-			34					A0JDY6|Q3KNV2	Missense_Mutation	SNP	ENST00000330590.2	37	c.102G>T	CCDS5963.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.849163	0.32699	.	.	ENSG00000164816	ENST00000330590	T	0.43688	0.94	2.85	-0.648	0.11464	Defensin propeptide (1);	0.727672	0.11335	N	0.574649	T	0.57021	0.2025	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.85130	0.997	T	0.46148	-0.9212	9	0.87932	D	0	.	5.8289	0.18568	0.2062:0.3894:0.4045:0.0	.	34	Q01523	DEF5_HUMAN	H	34	ENSP00000329890:Q34H	ENSP00000329890:Q34H	Q	-	3	2	DEFA5	6901528	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.186000	0.09670	-0.281000	0.09141	0.558000	0.71614	CAG		0.537	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1	NM_021010		63	11	1	0	3.10202e-16	0.00361	4.69734e-16	63	11				
ASH2L	9070	broad.mit.edu	37	8	37978623	37978623	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:37978623G>T	ENST00000343823.6	+	10	1430	c.1121G>T	c.(1120-1122)aGa>aTa	p.R374I	RP11-90P5.5_ENST00000476186.2_RNA|ASH2L_ENST00000428278.2_Missense_Mutation_p.R280I|ASH2L_ENST00000545394.1_Missense_Mutation_p.R235I|ASH2L_ENST00000521652.1_Missense_Mutation_p.R280I|RP11-90P5.4_ENST00000519081.1_RNA|ASH2L_ENST00000250635.7_Missense_Mutation_p.R280I	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	374	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GACCTCTACAGAGCCTGCTTG	0.483											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003xkt.3		NA																	0				ovary(1)|lung(1)	2						c.(1120-1122)AGA>ATA		ash2-like isoform a							127.0	123.0	124.0					8																	37978623		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37978623G>T	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1121G>T	8.37:g.37978623G>T	ENSP00000340896:p.Arg374Ile		OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	874	ASH2L_uc011lbk.1_Missense_Mutation_p.R235I|ASH2L_uc003xku.3_Missense_Mutation_p.R280I|ASH2L_uc010lwa.2_Missense_Mutation_p.R280I	p.R374I	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN			10	1179	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	374			B30.2/SPRY.		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.1121G>T	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409941	0.96072	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;D;D;D;D	0.82711	-0.75;-1.64;-1.59;-1.6;-1.64	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.93161	0.7822	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.986	D	0.93975	0.7253	10	0.87932	D	0	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	280;374	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	I	374;280;235;280;280	ENSP00000340896:R374I;ENSP00000250635:R280I;ENSP00000443606:R235I;ENSP00000395310:R280I;ENSP00000430259:R280I	ENSP00000250635:R280I	R	+	2	0	ASH2L	38097780	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.799000	0.99117	2.660000	0.90430	0.655000	0.94253	AGA		0.483	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		34	40	1	0	1.47244e-24	0.00623	2.35059e-24	34	40				
SLC10A5	347051	broad.mit.edu	37	8	82607198	82607198	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:82607198T>C	ENST00000518568.1	-	1	1211	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	4						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ATAAAAAGTTTTCTAATCATT	0.313																																							uc011lfs.1		NA																	0					0						c.(10-12)AAA>GAA		solute carrier family 10 (sodium/bile acid							23.0	25.0	25.0					8																	82607198		2201	4293	6494	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82607198T>C		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.10A>G	8.37:g.82607198T>C	ENSP00000428612:p.Lys4Glu						p.K4E	NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN			1	10	-			4					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.10A>G	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	6.130	0.392127	0.11581	.	.	ENSG00000253598	ENST00000518568	T	0.09817	2.94	6.07	-0.672	0.11377	.	1.055400	0.07466	N	0.901501	T	0.05547	0.0146	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44937	-0.9295	10	0.09084	T	0.74	-2.8786	4.4335	0.11540	0.0:0.3017:0.3405:0.3577	.	4	Q5PT55	NTCP5_HUMAN	E	4	ENSP00000428612:K4E	ENSP00000428612:K4E	K	-	1	0	SLC10A5	82769753	0.031000	0.19500	0.000000	0.03702	0.012000	0.07955	0.214000	0.17541	-0.065000	0.13021	-0.313000	0.08912	AAA		0.313	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		9	35	0	0	0	0.006214	0	9	35				
WWP1	11059	broad.mit.edu	37	8	87386340	87386340	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:87386340C>G	ENST00000517970.1	+	3	368	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	WWP1_ENST00000265428.4_Missense_Mutation_p.Q21E|WWP1_ENST00000341922.2_Missense_Mutation_p.Q21E|WWP1_ENST00000349423.2_Missense_Mutation_p.Q21E|WWP1_ENST00000523863.1_3'UTR	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	21	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GTTGCAGTTACAGGTAACTGG	0.343																																							uc003ydt.2		NA																	0				lung(1)|liver(1)	2						c.(61-63)CAG>GAG		WW domain containing E3 ubiquitin protein ligase							116.0	122.0	120.0					8																	87386340		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87386340C>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.61C>G	8.37:g.87386340C>G	ENSP00000427793:p.Gln21Glu						p.Q21E	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			3	341	+			21			C2.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.61C>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	C	4.866	0.161004	0.09287	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423;ENST00000436619	T;T;T;T	0.67345	-0.26;-0.26;-0.26;0.81	5.55	3.65	0.41850	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.195367	0.45361	D	0.000366	T	0.57301	0.2044	N	0.16478	0.41	0.21627	N	0.999618	B	0.25850	0.136	B	0.39339	0.297	T	0.54977	-0.8212	10	0.44086	T	0.13	.	12.7543	0.57325	0.3084:0.6916:0.0:0.0	.	21	Q9H0M0	WWP1_HUMAN	E	21	ENSP00000427793:Q21E;ENSP00000265428:Q21E;ENSP00000340564:Q21E;ENSP00000342665:Q21E	ENSP00000265428:Q21E	Q	+	1	0	WWP1	87455456	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.209000	0.42806	0.613000	0.30089	0.585000	0.79938	CAG		0.343	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		28	97	0	0	0	0.001786	0	28	97				
WWP1	11059	broad.mit.edu	37	8	87393038	87393038	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:87393038A>G	ENST00000517970.1	+	4	461	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E	WWP1_ENST00000265428.4_Missense_Mutation_p.K52E|WWP1_ENST00000341922.2_Missense_Mutation_p.K52E|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000523863.1_3'UTR	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	52	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGAAATTACGAAAACAGCAAA	0.343																																							uc003ydt.2		NA																	0				lung(1)|liver(1)	2						c.(154-156)AAA>GAA		WW domain containing E3 ubiquitin protein ligase							85.0	79.0	81.0					8																	87393038		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87393038A>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.154A>G	8.37:g.87393038A>G	ENSP00000427793:p.Lys52Glu					WWP1_uc010mai.2_5'UTR	p.K52E	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			4	434	+			52			C2.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.154A>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.131287	0.37630	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.72051	-0.62;-0.62;-0.62	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.272291	0.37715	N	0.001963	D	0.83036	0.5167	M	0.79123	2.44	0.80722	D	1	D	0.59357	0.985	P	0.62491	0.903	D	0.85496	0.1188	10	0.87932	D	0	.	15.9348	0.79694	1.0:0.0:0.0:0.0	.	52	Q9H0M0	WWP1_HUMAN	E	52	ENSP00000427793:K52E;ENSP00000265428:K52E;ENSP00000340564:K52E	ENSP00000265428:K52E	K	+	1	0	WWP1	87462154	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	6.117000	0.71577	2.153000	0.67306	0.482000	0.46254	AAA		0.343	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		5	30	0	0	0	0.001168	0	5	30				
CNBD1	168975	broad.mit.edu	37	8	87878811	87878811	+	Splice_Site	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:87878811A>T	ENST00000518476.1	+	1	139	c.88A>T	c.(88-90)Aac>Tac	p.N30Y		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	30										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CAGTATACCAAGTGAGTGGGA	0.438																																							uc003ydy.2		NA																	0				ovary(3)	3						c.(88-90)AAC>TAC		cyclic nucleotide binding domain containing 1							91.0	82.0	85.0					8																	87878811		1932	4125	6057	SO:0001630	splice_region_variant	168975							g.chr8:87878811A>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.88+1A>T	8.37:g.87878811A>T							p.N30Y	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			1	136	+			30						Missense_Mutation	SNP	ENST00000518476.1	37	c.88A>T	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	6.436	0.448506	0.12223	.	.	ENSG00000176571	ENST00000518476	T	0.18338	2.22	4.78	-9.55	0.00569	.	1.704620	0.03167	N	0.170184	T	0.07234	0.0183	N	0.08118	0	0.22468	N	0.999073	P	0.36438	0.553	B	0.31751	0.135	T	0.29761	-1.0001	10	0.52906	T	0.07	.	9.3456	0.38107	0.2044:0.5691:0.2265:0.0	.	30	Q8NA66	CNBD1_HUMAN	Y	30	ENSP00000430073:N30Y	ENSP00000430073:N30Y	N	+	1	0	CNBD1	87947927	0.837000	0.29446	0.118000	0.21660	0.048000	0.14542	-0.434000	0.06939	-1.958000	0.01019	-1.098000	0.02139	AAC		0.438	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	Missense_Mutation	8	18	0	0	0	0.006214	0	8	18				
SLC25A32	81034	broad.mit.edu	37	8	104420013	104420013	+	Splice_Site	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:104420013C>A	ENST00000297578.4	-	2	321		c.e2-1		SLC25A32_ENST00000543107.1_Splice_Site	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CCATCACTCACTGCATCAAGG	0.373																																							uc003yll.2		NA																	0				ovary(1)	1						c.e2-1		solute carrier family 25, member 32	Folic Acid(DB00158)						115.0	110.0	112.0					8																	104420013		2203	4300	6503	SO:0001630	splice_region_variant	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104420013C>A	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.155-1G>T	8.37:g.104420013C>A						SLC25A32_uc011lhr.1_Splice_Site	p.V52_splice	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	458	-								Q96JZ6|Q96SU7	Splice_Site	SNP	ENST00000297578.4	37	c.155_splice	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389918	0.82902	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A32	104489189	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.280000	0.78610	2.878000	0.98634	0.650000	0.86243	.		0.373	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780	Intron	50	39	1	0	7.05377e-20	0.00361	1.09956e-19	50	39				
CSMD3	114788	broad.mit.edu	37	8	114326875	114326875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:114326875G>T	ENST00000297405.5	-	2	570	c.326C>A	c.(325-327)tCa>tAa	p.S109*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S69*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S109*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S109*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	109	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TAGAGCAAATGACTGAAAAAC	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				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.(325-327)TCA>TAA		CUB and Sushi multiple domains 3 isoform 1							159.0	150.0	153.0					8																	114326875		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:114326875G>T	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.326C>A	8.37:g.114326875G>T	ENSP00000297405:p.Ser109*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Nonsense_Mutation_p.S69*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S109*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.S109*|CSMD3_uc003ynx.3_Nonsense_Mutation_p.S109*	p.S109*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	485	-			109			Extracellular (Potential).|CUB 1.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.326C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	37	6.505228	0.97620	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.72	5.72	0.89469	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8756	0.92334	0.0:0.0:1.0:0.0	.	.	.	.	X	69;109;109;109	.	ENSP00000297405:S109X	S	-	2	0	CSMD3	114396051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.860000	0.99555	2.697000	0.92050	0.557000	0.71058	TCA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	65	1	0	2.44723e-14	0.004656	3.58296e-14	28	65				
TRPS1	7227	broad.mit.edu	37	8	116631998	116631998	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:116631998G>T	ENST00000220888.5	-	2	447	c.288C>A	c.(286-288)aaC>aaA	p.N96K	TRPS1_ENST00000395715.3_Missense_Mutation_p.N109K|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.N96K|TRPS1_ENST00000520276.1_Missense_Mutation_p.N100K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	96					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)			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)			AGGAGGGAAAGTTTCCTCCCT	0.478									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(286-288)AAC>AAA		zinc finger transcription factor TRPS1							87.0	83.0	84.0					8																	116631998		1931	4131	6062	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.chr8:116631998G>T	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.288C>A	8.37:g.116631998G>T	ENSP00000220888:p.Asn96Lys					TRPS1_uc011lhy.1_Missense_Mutation_p.N100K|TRPS1_uc003yny.2_Missense_Mutation_p.N109K|TRPS1_uc010mcy.2_Missense_Mutation_p.N96K	p.N96K	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)		2	747	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		96					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.288C>A		.	.	.	.	.	.	.	.	.	.	G	14.87	2.664383	0.47572	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674;ENST00000395713	D;D;D;T	0.98567	-5.0;-4.97;-4.97;0.82	5.82	4.94	0.65067	.	0.140653	0.48767	D	0.000172	D	0.94411	0.8202	N	0.24115	0.695	0.34324	D	0.686921	B;B;B	0.17038	0.02;0.012;0.02	B;B;B	0.24006	0.05;0.023;0.05	D	0.91756	0.5416	10	0.87932	D	0	-11.5494	5.5732	0.17208	0.2607:0.0:0.7393:0.0	.	100;96;109	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	109;96;100;96;109	ENSP00000379065:N109K;ENSP00000220888:N96K;ENSP00000428680:N100K;ENSP00000429174:N96K	ENSP00000220888:N96K	N	-	3	2	TRPS1	116701173	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.507000	0.60434	2.751000	0.94390	0.650000	0.86243	AAC		0.478	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		17	122	1	0	5.3912e-06	0.006122	6.77094e-06	17	122				
FAM83A	84985	broad.mit.edu	37	8	124195334	124195334	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:124195334T>A	ENST00000518448.1	+	2	2252	c.238T>A	c.(238-240)Tgt>Agt	p.C80S	RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000318462.6_Missense_Mutation_p.C80S|FAM83A_ENST00000536633.1_Missense_Mutation_p.C80S|FAM83A_ENST00000522648.1_Missense_Mutation_p.C80S|FAM83A_ENST00000276699.6_Missense_Mutation_p.C80S|U3_ENST00000408534.1_RNA|FAM83A_ENST00000546351.1_Missense_Mutation_p.C80S			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	80										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGAGCCCCCGTGTCCCCCAGA	0.662																																							uc003ypv.2		NA																	0				ovary(3)|skin(1)	4						c.(238-240)TGT>AGT		hypothetical protein LOC84985 isoform a							38.0	38.0	38.0					8																	124195334		2203	4300	6503	SO:0001583	missense	84985							g.chr8:124195334T>A	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.238T>A	8.37:g.124195334T>A	ENSP00000428876:p.Cys80Ser					FAM83A_uc003ypw.2_Missense_Mutation_p.C80S|FAM83A_uc003ypy.2_Missense_Mutation_p.C80S|FAM83A_uc003ypx.2_Missense_Mutation_p.C80S|FAM83A_uc003ypz.2_Missense_Mutation_p.C80S	p.C80S	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	2252	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		80					Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.238T>A	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	T	3.427	-0.116878	0.06838	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.10099	2.91;3.12;2.91;2.91;3.12;2.91	5.46	-0.111	0.13576	.	0.839906	0.11328	N	0.575375	T	0.05640	0.0148	N	0.11927	0.2	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.12156	0.002;0.004;0.007	T	0.44436	-0.9328	10	0.21540	T	0.41	-0.0092	8.7669	0.34708	0.1184:0.0:0.3885:0.4931	.	80;80;80	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	S	80	ENSP00000428876:C80S;ENSP00000440565:C80S;ENSP00000445218:C80S;ENSP00000323034:C80S;ENSP00000427979:C80S;ENSP00000276699:C80S	ENSP00000276699:C80S	C	+	1	0	FAM83A	124264515	0.007000	0.16637	0.008000	0.14137	0.041000	0.13682	1.266000	0.33039	0.032000	0.15435	0.459000	0.35465	TGT		0.662	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		41	40	0	0	0	0.00874	0	41	40				
ZC3H3	23144	broad.mit.edu	37	8	144557696	144557696	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:144557696C>T	ENST00000262577.5	-	5	1806	c.1775G>A	c.(1774-1776)gGc>gAc	p.G592D		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	592					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCAAGGGGAGCCCGGTTGGGC	0.632																																							uc003yyd.2		NA																	0				skin(1)	1						c.(1774-1776)GGC>GAC		zinc finger CCCH-type containing 3							32.0	32.0	32.0					8																	144557696		2201	4298	6499	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144557696C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1775G>A	8.37:g.144557696C>T	ENSP00000262577:p.Gly592Asp						p.G592D	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		5	1804	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		592					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.1775G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	7.840	0.721643	0.15372	.	.	ENSG00000014164	ENST00000262577	T	0.02812	4.15	5.12	3.18	0.36537	.	0.885835	0.09820	N	0.751585	T	0.04137	0.0115	L	0.51422	1.61	0.09310	N	1	B	0.18741	0.03	B	0.20577	0.03	T	0.35201	-0.9798	10	0.44086	T	0.13	-9.0838	7.9797	0.30177	0.1817:0.5125:0.3058:0.0	.	592	Q8IXZ2	ZC3H3_HUMAN	D	592	ENSP00000262577:G592D	ENSP00000262577:G592D	G	-	2	0	ZC3H3	144628839	0.005000	0.15991	0.022000	0.16811	0.089000	0.18198	0.585000	0.23879	1.129000	0.42072	0.655000	0.94253	GGC		0.632	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		7	43	0	0	0	0.00308	0	7	43				
DOCK8	81704	broad.mit.edu	37	9	328110	328110	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:328110A>G	ENST00000453981.1	+	9	1095	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	DOCK8_ENST00000469391.1_Missense_Mutation_p.Q260R|DOCK8_ENST00000432829.2_Missense_Mutation_p.Q260R			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	328					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCATCAAGTCAGGCGAGATCT	0.468																																							uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(982-984)CAG>CGG		dedicator of cytokinesis 8							116.0	99.0	105.0					9																	328110		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:328110A>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.983A>G	9.37:g.328110A>G	ENSP00000408464:p.Gln328Arg					DOCK8_uc011lls.1_Missense_Mutation_p.Q328R|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.Q260R|DOCK8_uc003zgg.2_Missense_Mutation_p.Q260R|DOCK8_uc003zgh.2_RNA	p.Q328R	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	9	1095	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	328			DHR-1.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.983A>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	3.313	-0.140388	0.06669	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.37584	1.19;1.19;1.19	5.9	4.7	0.59300	.	0.059555	0.64402	D	0.000002	T	0.27731	0.0682	L	0.45137	1.4	0.39691	D	0.971041	B;B	0.12013	0.005;0.001	B;B	0.14578	0.011;0.007	T	0.09185	-1.0686	10	0.14252	T	0.57	.	10.6167	0.45454	0.7667:0.0:0.0:0.2333	.	260;328	E9PH09;Q8NF50	.;DOCK8_HUMAN	R	328;328;260;260	ENSP00000408464:Q328R;ENSP00000394888:Q260R;ENSP00000419438:Q260R	ENSP00000287364:Q328R	Q	+	2	0	DOCK8	318110	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	1.257000	0.32932	2.257000	0.74773	0.528000	0.53228	CAG		0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		9	18	0	0	0	0.004482	0	9	18				
BNC2	54796	broad.mit.edu	37	9	16419339	16419339	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:16419339C>A	ENST00000380672.4	-	7	3005	c.2948G>T	c.(2947-2949)gGc>gTc	p.G983V	BNC2_ENST00000545497.1_Missense_Mutation_p.G888V|BNC2_ENST00000380667.2_Missense_Mutation_p.G916V	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTCATCGCTGCCTGCGTCGGA	0.617																																							uc003zml.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2947-2949)GGC>GTC		basonuclin 2							93.0	88.0	90.0					9																	16419339		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419339C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2948G>T	9.37:g.16419339C>A	ENSP00000370047:p.Gly983Val					BNC2_uc011lmw.1_Missense_Mutation_p.G888V|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.G770V	p.G983V	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	3088	-			983						Missense_Mutation	SNP	ENST00000380672.4	37	c.2948G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.91	2.674972	0.47781	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.51325	0.71;0.77;0.74	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	L	0.42686	1.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.51156	-0.8741	10	0.20046	T	0.44	-21.4666	20.3593	0.98849	0.0:1.0:0.0:0.0	.	888;983;748	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	V	983;916;888	ENSP00000370047:G983V;ENSP00000370042:G916V;ENSP00000444640:G888V	ENSP00000370042:G916V	G	-	2	0	BNC2	16409339	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.818000	0.86416	2.807000	0.96579	0.591000	0.81541	GGC		0.617	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		15	22	1	0	1.49906e-05	0.00245	1.82225e-05	15	22				
IFNE	338376	broad.mit.edu	37	9	21481120	21481120	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:21481120G>A	ENST00000448696.3	-	1	1192	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	192					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						TCGTTCAAGGGTCTTCCTTGT	0.478																																							uc003zpg.2		NA																	0					0						c.(574-576)CCC>TCC		interferon, epsilon precursor							119.0	119.0	119.0					9																	21481120		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481120G>A	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.574C>T	9.37:g.21481120G>A	ENSP00000418018:p.Pro192Ser					LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	p.P192S	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN			1	1193	-			192						Missense_Mutation	SNP	ENST00000448696.3	37	c.574C>T	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	G	6.401	0.442043	0.12164	.	.	ENSG00000184995	ENST00000448696	T	0.03801	3.8	5.08	-3.06	0.05379	.	.	.	.	.	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.44847	-0.9301	9	0.56958	D	0.05	.	0.3977	0.00421	0.3363:0.1261:0.2588:0.2788	.	192	Q86WN2	IFNE_HUMAN	S	192	ENSP00000418018:P192S	ENSP00000418018:P192S	P	-	1	0	IFNE	21471120	0.058000	0.20735	0.000000	0.03702	0.005000	0.04900	0.000000	0.12993	-0.722000	0.04922	-0.169000	0.13324	CCC		0.478	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		34	48	0	0	0	0.003755	0	34	48				
TAF1L	138474	broad.mit.edu	37	9	32635389	32635389	+	Silent	SNP	C	C	T	rs55895024	byFrequency	TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:32635389C>T	ENST00000242310.4	-	1	278	c.189G>A	c.(187-189)aaG>aaA	p.K63K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	63					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGCCAAGTGCTTCTTACACT	0.547													C|||	40	0.00798722	0.0023	0.0029	5008	,	,		15202	0.001		0.0209	False		,,,				2504	0.0133						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(187-189)AAG>AAA		TBP-associated factor RNA polymerase 1-like		C		23,4383	29.9+/-59.1	0,23,2180	114.0	109.0	110.0		189	0.5	0.9	9	dbSNP_129	110	192,8408	85.8+/-148.2	1,190,4109	no	coding-synonymous	TAF1L	NM_153809.2		1,213,6289	TT,TC,CC		2.2326,0.522,1.6531		63/1827	32635389	215,12791	2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635389C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.189G>A	9.37:g.32635389C>T						uc003zrh.1_Intron	p.K63K	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	279	-			63					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.189G>A	CCDS35003.1																																																																																				0.547	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	93	0	0	0	0.000248	0	4	93				
TRPM6	140803	broad.mit.edu	37	9	77411743	77411743	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:77411743A>G	ENST00000360774.1	-	18	2542	c.2305T>C	c.(2305-2307)Tca>Cca	p.S769P	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.S764P|TRPM6_ENST00000376864.4_Missense_Mutation_p.S769P|TRPM6_ENST00000451710.3_Missense_Mutation_p.S769P|TRPM6_ENST00000361255.3_Missense_Mutation_p.S764P	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	769					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAACATGTGACATCTCAGCT	0.378																																							uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2305-2307)TCA>CCA		transient receptor potential cation channel,							134.0	126.0	129.0					9																	77411743		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77411743A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2305T>C	9.37:g.77411743A>G	ENSP00000354006:p.Ser769Pro					TRPM6_uc004ajk.1_Missense_Mutation_p.S764P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.S147P	p.S769P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			18	2543	-			769			Extracellular (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2305T>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971344	0.74246	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86	5.67	5.67	0.87782	.	0.055231	0.64402	D	0.000001	T	0.25531	0.0621	L	0.49350	1.555	0.58432	D	0.999994	P;D;P	0.89917	0.836;1.0;0.659	P;D;B	0.76071	0.601;0.987;0.346	T	0.03795	-1.1003	10	0.14252	T	0.57	.	15.9173	0.79531	1.0:0.0:0.0:0.0	.	432;769;764	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	P	769;769;764;764;769;432;432	ENSP00000354006:S769P;ENSP00000407341:S769P;ENSP00000396672:S764P;ENSP00000354962:S764P;ENSP00000366060:S769P	ENSP00000309693:S432P	S	-	1	0	TRPM6	76601563	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.217000	0.58547	2.170000	0.68504	0.533000	0.62120	TCA		0.378	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		14	51	0	0	0	0.001855	0	14	51				
PRUNE2	158471	broad.mit.edu	37	9	79323992	79323992	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:79323992G>A	ENST00000376718.3	-	8	3321	c.3198C>T	c.(3196-3198)tcC>tcT	p.S1066S	PRUNE2_ENST00000428286.1_Silent_p.S707S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1066					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATCCTCCATGGAGATATTCT	0.453																																							uc010mpk.2		NA																	0					0						c.(3196-3198)TCC>TCT		prune homolog 2							222.0	185.0	196.0					9																	79323992		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323992G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3198C>T	9.37:g.79323992G>A							p.S1066S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	3322	-			1066					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.3198C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	5.445	0.267257	0.10294	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.94	-8.86	0.00795	.	.	.	.	.	T	0.15565	0.0375	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.21552	-1.0242	4	.	.	.	-0.8685	2.467	0.04555	0.4361:0.298:0.1258:0.1401	.	.	.	.	Y	388	.	.	H	-	1	0	PRUNE2	78513812	0.012000	0.17670	0.000000	0.03702	0.003000	0.03518	-0.018000	0.12568	-1.182000	0.02727	-0.367000	0.07326	CAT		0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		18	34	0	0	0	0.00499	0	18	34				
KIAA0368	23392	broad.mit.edu	37	9	114246668	114246668	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:114246668A>G	ENST00000259335.4	-	2	244	c.245T>C	c.(244-246)tTt>tCt	p.F82S	KIAA0368_ENST00000338205.5_5'Flank	NM_001080398.1	NP_001073867.1	Q5VYK3	ECM29_HUMAN	KIAA0368	0					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGACTCAGAAAAGTAGAGCCG	0.697																																							uc004bfe.1		NA																	0					0						c.(244-246)TTT>TCT		KIAA0368 protein							12.0	16.0	15.0					9																	114246668		1840	3959	5799	SO:0001583	missense	23392							g.chr9:114246668A>G	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000259335.4:c.245T>C	9.37:g.114246668A>G	ENSP00000259335:p.Phe82Ser					KIAA0368_uc010muc.1_5'Flank	p.F82S	NM_001080398	NP_001073867					2	245	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000259335.4	37	c.245T>C	CCDS48006.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.161111	0.38119	.	.	ENSG00000136813	ENST00000259335	T	0.50813	0.73	2.72	2.72	0.32119	.	.	.	.	.	T	0.53222	0.1783	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56571	-0.7957	6	0.87932	D	0	.	7.3133	0.26488	1.0:0.0:0.0:0.0	.	.	.	.	S	82	ENSP00000259335:F82S	ENSP00000259335:F82S	F	-	2	0	KIAA0368	113286489	0.100000	0.21855	0.995000	0.50966	0.375000	0.29983	1.448000	0.35112	1.487000	0.48415	0.402000	0.26972	TTT		0.697	KIAA0368-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014686		6	13	0	0	0	0.004482	0	6	13				
PAPPA	5069	broad.mit.edu	37	9	119065114	119065114	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:119065114G>A	ENST00000328252.3	+	10	3401	c.3032G>A	c.(3031-3033)tGt>tAt	p.C1011Y	PAPPA_ENST00000534838.1_Missense_Mutation_p.C49Y|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1011					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTAAGGACTGTGGTGTCTAC	0.488																																							uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(3031-3033)TGT>TAT		pregnancy-associated plasma protein A							126.0	110.0	115.0					9																	119065114		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065114G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3032G>A	9.37:g.119065114G>A	ENSP00000330658:p.Cys1011Tyr					PAPPA_uc011lxp.1_Missense_Mutation_p.C706Y|PAPPA_uc011lxq.1_Missense_Mutation_p.C386Y	p.C1011Y	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			10	3413	+			1011					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.3032G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819152	0.90873	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	T;T	0.55930	0.49;0.49	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	M	0.76727	2.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.75499	-0.3296	10	0.87932	D	0	-12.3694	20.6243	0.99512	0.0:0.0:1.0:0.0	.	49;455;1011	F5GZ19;E7EMD3;Q13219	.;.;PAPP1_HUMAN	Y	1011;455;49	ENSP00000330658:C1011Y;ENSP00000441461:C49Y	ENSP00000330658:C1011Y	C	+	2	0	PAPPA	118104935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.706000	0.98722	2.879000	0.98667	0.650000	0.86243	TGT		0.488	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	24	0	0	0	0.000248	0	4	24				
CERCAM	51148	broad.mit.edu	37	9	131193497	131193497	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:131193497C>T	ENST00000372838.4	+	9	1516	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	CERCAM_ENST00000372842.1_Missense_Mutation_p.P295L|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	373					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.P295Q(1)|p.P373Q(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GACCTGCTCCCGGGCTACCAG	0.642																																							uc004buz.3		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1117-1119)CCG>CTG		cerebral endothelial cell adhesion molecule 1							93.0	95.0	94.0					9																	131193497		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131193497C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1118C>T	9.37:g.131193497C>T	ENSP00000361929:p.Pro373Leu					CERCAM_uc004buy.1_Missense_Mutation_p.P295L|CERCAM_uc010mxz.2_Missense_Mutation_p.P295L|CERCAM_uc010mya.1_Missense_Mutation_p.P214L	p.P373L	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN			9	1516	+			373					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.1118C>T	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	35	5.502475	0.96371	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.79247	-1.23;-1.25	4.87	4.87	0.63330	.	0.057081	0.64402	D	0.000001	D	0.88503	0.6454	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90198	0.4255	10	0.87932	D	0	-4.5725	16.926	0.86176	0.0:1.0:0.0:0.0	.	373	Q5T4B2	GT253_HUMAN	L	295;373;326	ENSP00000361933:P295L;ENSP00000361929:P373L	ENSP00000361929:P373L	P	+	2	0	CERCAM	130233318	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.545000	0.82128	2.401000	0.81631	0.491000	0.48974	CCG		0.642	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		28	116	0	0	0	0.007291	0	28	116				
ADAMTS13	11093	broad.mit.edu	37	9	136307772	136307772	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:136307772C>T	ENST00000371929.3	+	18	2586	c.2142C>T	c.(2140-2142)gcC>gcT	p.A714A	ADAMTS13_ENST00000356589.2_Silent_p.A683A|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000355699.2_Silent_p.A714A|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	714	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGACCAGGCCAGGAAGGAGT	0.662																																							uc004cdv.3		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(2140-2142)GCC>GCT		ADAM metallopeptidase with thrombospondin type 1							50.0	55.0	53.0					9																	136307772		2203	4300	6503	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136307772C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2142C>T	9.37:g.136307772C>T						ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Silent_p.A714A|ADAMTS13_uc004cdu.1_Silent_p.A683A|ADAMTS13_uc004cdw.3_Silent_p.A714A|ADAMTS13_uc004cdx.3_Silent_p.A683A|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.3_Silent_p.A384A|ADAMTS13_uc004cds.1_Silent_p.A239A|ADAMTS13_uc004cdr.1_Intron	p.A714A	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	18	2586	+			714			TSP type-1 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.2142C>T	CCDS6970.1																																																																																				0.662	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		12	69	0	0	0	0.001368	0	12	69				
AKAP17A	8227	broad.mit.edu	37	X	1712374	1712374	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:1712374G>C	ENST00000313871.3	+	2	215	c.19G>C	c.(19-21)Gtg>Ctg	p.V7L	AKAP17A_ENST00000381261.3_Missense_Mutation_p.V7L	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	7					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGCTACCATCGTGCACGACAC	0.622																																							uc004cqa.2		NA																	0					0						c.(19-21)GTG>CTG		DNA segment on chromosome X and Y (unique) 155							138.0	134.0	135.0					X																	1712374		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712374G>C	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.19G>C	X.37:g.1712374G>C	ENSP00000324827:p.Val7Leu					SFRS17A_uc010ncx.1_Missense_Mutation_p.V7L|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	p.V7L	NM_005088	NP_005079	Q02040	AK17A_HUMAN			2	215	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	7					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.19G>C	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	9.475	1.096526	0.20552	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.39787	1.06;1.06	2.02	2.02	0.26589	.	0.000000	0.52532	U	0.000064	T	0.59810	0.2221	.	.	.	0.09310	N	1	B;D	0.76494	0.232;0.999	B;D	0.79784	0.075;0.993	T	0.52793	-0.8528	9	0.52906	T	0.07	-37.7463	12.3922	0.55364	0.0:0.0:1.0:0.0	.	7;7	Q02040-3;Q02040	.;AK17A_HUMAN	L	7	ENSP00000324827:V7L;ENSP00000370660:V7L	ENSP00000324827:V7L	V	+	1	0	AKAP17A	1672374	1.000000	0.71417	0.020000	0.16555	0.387000	0.30353	5.107000	0.64603	0.780000	0.33566	0.100000	0.15512	GTG		0.622	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		60	131	0	0	0	0.00361	0	60	131				
TBL1X	6907	broad.mit.edu	37	X	9683028	9683028	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:9683028C>A	ENST00000217964.7	+	17	2332	c.1692C>A	c.(1690-1692)agC>agA	p.S564R	TBL1X_ENST00000380961.1_Missense_Mutation_p.S513R|TBL1X_ENST00000407597.2_Missense_Mutation_p.S564R|TBL1X_ENST00000424279.1_Missense_Mutation_p.S513R|TBL1X_ENST00000536365.1_Missense_Mutation_p.S513R	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	564					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGGGTGCCAGCGCGTCCGACG	0.597																																							uc010ndq.2		NA																	0				ovary(1)	1						c.(1690-1692)AGC>AGA		transducin beta-like 1X isoform a							71.0	53.0	59.0					X																	9683028		2203	4300	6503	SO:0001583	missense	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9683028C>A	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1692C>A	X.37:g.9683028C>A	ENSP00000217964:p.Ser564Arg					TBL1X_uc004csq.3_Missense_Mutation_p.S513R|TBL1X_uc010ndr.2_Missense_Mutation_p.S513R|TBL1X_uc004csr.2_Missense_Mutation_p.S564R|TBL1X_uc004css.2_Missense_Mutation_p.S515R	p.S564R	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN			17	2060	+		Hepatocellular(5;0.000888)	564			WD 8.		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	c.1692C>A	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181517	0.57800	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	3.8	-3.84	0.04256	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88887	0.6559	M	0.83692	2.655	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	D	0.87072	0.2160	10	0.59425	D	0.04	.	12.386	0.55333	0.0:0.302:0.0:0.698	.	527;564	Q59F53;O60907	.;TBL1X_HUMAN	R	564;513;513;513;564	ENSP00000385988:S564R;ENSP00000394097:S513R;ENSP00000445317:S513R;ENSP00000370348:S513R;ENSP00000217964:S564R	ENSP00000217964:S564R	S	+	3	2	TBL1X	9643028	0.074000	0.21230	0.963000	0.40424	0.933000	0.57130	-0.749000	0.04813	-0.945000	0.03681	0.429000	0.28392	AGC		0.597	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		6	19	1	0	8.12818e-05	0.001984	9.44723e-05	6	19				
RAI2	10742	broad.mit.edu	37	X	17819428	17819428	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:17819428G>T	ENST00000545871.1	-	3	1163	c.703C>A	c.(703-705)Cct>Act	p.P235T	RAI2_ENST00000360011.1_Missense_Mutation_p.P235T|RAI2_ENST00000415486.3_Missense_Mutation_p.P185T|RAI2_ENST00000331511.1_Missense_Mutation_p.P235T|RAI2_ENST00000451717.1_Missense_Mutation_p.P235T	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	235	Pro-rich.				embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACGATTACAGGATACGGCACC	0.607																																							uc004cyf.2		NA																	0				ovary(1)|breast(1)	2						c.(703-705)CCT>ACT		retinoic acid induced 2							58.0	56.0	56.0					X																	17819428		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17819428G>T	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.703C>A	X.37:g.17819428G>T	ENSP00000444210:p.Pro235Thr					RAI2_uc004cyg.2_Missense_Mutation_p.P235T|RAI2_uc010nfa.2_Missense_Mutation_p.P235T|RAI2_uc004cyh.3_Missense_Mutation_p.P235T|RAI2_uc011miy.1_Missense_Mutation_p.P185T	p.P235T	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			3	1273	-	Hepatocellular(33;0.183)		235			Pro-rich.		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.703C>A	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	g	12.57	1.978214	0.34942	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;0.07	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.80314	0.4600	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81780	-0.0776	10	0.62326	D	0.03	-8.7956	17.4342	0.87547	0.0:0.0:1.0:0.0	.	185;235	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	T	235;235;235;235;185	ENSP00000333456:P235T;ENSP00000353106:P235T;ENSP00000444210:P235T;ENSP00000401323:P235T;ENSP00000392578:P185T	ENSP00000333456:P235T	P	-	1	0	RAI2	17729349	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.820000	0.92003	2.400000	0.81607	0.597000	0.82753	CCT		0.607	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		15	51	1	0	1.49906e-05	0.00245	1.82225e-05	15	51				
SUPT20HL2	170067	broad.mit.edu	37	X	24330328	24330328	+	IGR	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:24330328G>T								AC096509.1 (25534 upstream) : AC004552.1 (36597 downstream)																							TTTTTACGTGGCCGTATTTTA	0.537																																							uc011mjw.1		NA																	0					0						c.(1105-1107)CCA>ACA		family with sequence similarity 48, member B2							50.0	44.0	46.0					X																	24330328		1568	3580	5148	SO:0001628	intergenic_variant	170067							g.chrX:24330328G>T																													X.37:g.24330328G>T							p.P369T	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	1105	-			369						Missense_Mutation	SNP		37	c.1105C>A																																																																																				0	0.537									12	44	1	0	7.93312e-07	0.00245	1.01071e-06	12	44				
DMD	1756	broad.mit.edu	37	X	32380967	32380967	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:32380967G>T	ENST00000357033.4	-	37	5469	c.5263C>A	c.(5263-5265)Ccc>Acc	p.P1755T	DMD_ENST00000378677.2_Missense_Mutation_p.P1751T	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	1755	Interaction with SYNM. {ECO:0000250}.				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)			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)				GAGATTTGGGGCTCTACTAAT	0.473																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5263-5265)CCC>ACC		dystrophin Dp427m isoform							233.0	172.0	193.0					X																	32380967		2202	4300	6502	SO:0001583	missense	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:32380967G>T	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.5263C>A	X.37:g.32380967G>T	ENSP00000354923:p.Pro1755Thr					DMD_uc004dcw.2_Missense_Mutation_p.P411T|DMD_uc004dcx.2_Missense_Mutation_p.P414T|DMD_uc004dcz.2_Missense_Mutation_p.P1632T|DMD_uc004dcy.1_Missense_Mutation_p.P1751T|DMD_uc004ddb.1_Missense_Mutation_p.P1747T|DMD_uc010ngo.1_Intron	p.P1755T	NM_004006	NP_003997	P11532	DMD_HUMAN			37	5507	-		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)	1755			Spectrin 12.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5263C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245359	0.39697	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.47869	0.83;0.83	5.25	4.39	0.52855	.	0.222822	0.21827	U	0.068526	T	0.38719	0.1051	L	0.46741	1.465	0.80722	D	1	B;B;B;B;B	0.28419	0.008;0.211;0.01;0.006;0.006	B;B;B;B;B	0.25614	0.01;0.062;0.018;0.011;0.011	T	0.28004	-1.0057	10	0.62326	D	0.03	.	7.9455	0.29985	0.0828:0.0:0.7582:0.159	.	1747;1755;1751;414;411	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	T	1747;414;411;1751;1755;1755;1632	ENSP00000367948:P1751T;ENSP00000354923:P1755T	ENSP00000354923:P1755T	P	-	1	0	DMD	32290888	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.368000	0.66133	0.981000	0.38548	0.544000	0.68410	CCC		0.473	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		46	40	1	0	2.81731e-22	0.00361	4.41767e-22	46	40				
FAM47B	170062	broad.mit.edu	37	X	34961678	34961679	+	Nonsense_Mutation	DNP	GC	GC	TA			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:34961678_34961679GC>TA	ENST00000329357.5	+	1	766_767	c.730_731GC>TA	c.(730-732)GCa>TAa	p.A244*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	244	Pro-rich.							p.A244T(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGAGACTCGCGCATCTCATCTC	0.639																																							uc004ddi.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)|breast(1)	4						c.(730-732)GCA>TAA		hypothetical protein LOC170062																																				SO:0001587	stop_gained	170062							g.chrX:34961678_34961679GC>TA	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	Exception_encountered	X.37:g.34961678_34961679delinsTA	ENSP00000328307:p.Ala244*						p.A244*	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	748_749	+			244			Pro-rich.		Q5JQN5|Q6PIG3	Nonsense_Mutation	DNP	ENST00000329357.5	37	c.730_731GC>TA	CCDS14236.1																																																																																				0.639	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		22	79	0	0	0	0.004672	0	22	79				
FAM47B	170062	broad.mit.edu	37	X	34961693	34961693	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:34961693G>A	ENST00000329357.5	+	1	781	c.745G>A	c.(745-747)Gtg>Atg	p.V249M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	249	Pro-rich.							p.V249M(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATCTCCGCGTGGATCCTCC	0.627																																							uc004ddi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(745-747)GTG>ATG		hypothetical protein LOC170062							59.0	54.0	56.0					X																	34961693		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961693G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.745G>A	X.37:g.34961693G>A	ENSP00000328307:p.Val249Met						p.V249M	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	763	+			249			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.745G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	3.563	-0.089327	0.07097	.	.	ENSG00000189132	ENST00000329357	T	0.15952	2.38	0.235	-0.47	0.12131	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P	0.35383	0.498	B	0.17098	0.017	T	0.24333	-1.0163	9	0.87932	D	0	.	5.5094	0.16872	0.0:0.6447:0.3553:0.0	.	249	Q8NA70	FA47B_HUMAN	M	249	ENSP00000328307:V249M	ENSP00000328307:V249M	V	+	1	0	FAM47B	34871614	0.079000	0.21365	0.000000	0.03702	0.000000	0.00434	-1.730000	0.01855	-0.761000	0.04670	-0.759000	0.03464	GTG		0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		19	80	0	0	0	0.001882	0	19	80				
CFP	5199	broad.mit.edu	37	X	47487635	47487635	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:47487635G>A	ENST00000396992.3	-	3	389	c.269C>T	c.(268-270)tCg>tTg	p.S90L	CFP_ENST00000480317.1_5'UTR|CFP_ENST00000377005.2_Missense_Mutation_p.S90L|CFP_ENST00000247153.3_Missense_Mutation_p.S90L	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	90	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCACGTCACCGAACAGGGGGC	0.627																																							uc004dig.3		NA																	0				breast(2)|lung(1)	3						c.(268-270)TCG>TTG		complement factor properdin precursor							39.0	35.0	36.0					X																	47487635		2203	4299	6502	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47487635G>A	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.269C>T	X.37:g.47487635G>A	ENSP00000380189:p.Ser90Leu					CFP_uc004dih.2_Missense_Mutation_p.S90L|CFP_uc004dii.1_Missense_Mutation_p.S26L|CFP_uc010nhu.2_Missense_Mutation_p.S90L	p.S90L	NM_001145252	NP_001138724	P27918	PROP_HUMAN			3	395	-			90			TSP type-1 1.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.269C>T	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326002	0.60743	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.68479	-0.33;-0.33;-0.33	5.97	5.97	0.96955	.	0.137650	0.51477	D	0.000084	D	0.89167	0.6638	H	0.99026	4.405	0.51482	D	0.999923	D;D	0.89917	0.999;1.0	D;D	0.91635	0.955;0.999	D	0.92987	0.6411	10	0.87932	D	0	.	14.562	0.68148	0.0:0.0:1.0:0.0	.	26;90	B3KVK6;P27918	.;PROP_HUMAN	L	90	ENSP00000380189:S90L;ENSP00000247153:S90L;ENSP00000366204:S90L	ENSP00000247153:S90L	S	-	2	0	CFP	47372579	1.000000	0.71417	0.947000	0.38551	0.015000	0.08874	5.774000	0.68906	2.517000	0.84864	0.600000	0.82982	TCG		0.627	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		4	22	0	0	0	0.000248	0	4	22				
TRO	7216	broad.mit.edu	37	X	54956321	54956321	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:54956321C>A	ENST00000173898.7	+	12	3276	c.3164C>A	c.(3163-3165)aCc>aAc	p.T1055N	TRO_ENST00000375041.2_Missense_Mutation_p.T658N|TRO_ENST00000420798.2_Missense_Mutation_p.T586N|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1055	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCTCCCAGCACCAGTGCTGGC	0.562																																							uc004dtq.2		NA																	0				ovary(1)	1						c.(3163-3165)ACC>AAC		trophinin isoform 5							40.0	37.0	38.0					X																	54956321		2010	4161	6171	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54956321C>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3164C>A	X.37:g.54956321C>A	ENSP00000173898:p.Thr1055Asn					TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.T586N|TRO_uc004dtw.2_Missense_Mutation_p.T658N|TRO_uc004dtx.2_Missense_Mutation_p.T438N	p.T1055N	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	3271	+			1055			62 X 10 AA approximate tandem repeats.|25.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.3164C>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	9.848	1.192827	0.21954	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.13901	3.02;3.02;2.55	2.35	0.396	0.16309	.	.	.	.	.	T	0.24547	0.0595	L	0.55990	1.75	0.09310	N	1	D;P	0.76494	0.999;0.473	D;B	0.66084	0.941;0.13	T	0.09818	-1.0657	9	0.87932	D	0	.	4.7647	0.13127	0.0:0.6296:0.2202:0.1503	.	658;1055	B1AKE9;Q12816	.;TROP_HUMAN	N	1055;586;658	ENSP00000173898:T1055N;ENSP00000405126:T586N;ENSP00000364181:T658N	ENSP00000173898:T1055N	T	+	2	0	TRO	54973046	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.534000	0.06150	0.003000	0.14656	-0.407000	0.06327	ACC		0.562	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		18	45	1	0	5.03518e-11	0.007413	6.98599e-11	18	45				
MAGEH1	28986	broad.mit.edu	37	X	55478884	55478884	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:55478884A>G	ENST00000342972.1	+	1	347	c.77A>G	c.(76-78)cAg>cGg	p.Q26R	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	26	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CGCAAAATCCAGGCCTCAGAG	0.632																																							uc004dum.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(76-78)CAG>CGG		melanoma antigen, family H, 1 protein							21.0	24.0	23.0					X																	55478884		2202	4299	6501	SO:0001583	missense	28986				apoptosis			g.chrX:55478884A>G	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.77A>G	X.37:g.55478884A>G	ENSP00000343706:p.Gln26Arg						p.Q26R	NM_014061	NP_054780	Q9H213	MAGH1_HUMAN			1	347	+			26			MAGE.		B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	ENST00000342972.1	37	c.77A>G	CCDS14369.1	.	.	.	.	.	.	.	.	.	.	.	12.70	2.017256	0.35606	.	.	ENSG00000187601	ENST00000342972	T	0.22539	1.95	3.03	3.03	0.35002	.	0.000000	0.32430	N	0.006110	T	0.15609	0.0376	N	0.08118	0	0.27406	N	0.954701	P	0.52842	0.956	P	0.60541	0.876	T	0.11421	-1.0588	10	0.07325	T	0.83	1.0711	6.9489	0.24534	1.0:0.0:0.0:0.0	.	26	Q9H213	MAGH1_HUMAN	R	26	ENSP00000343706:Q26R	ENSP00000343706:Q26R	Q	+	2	0	MAGEH1	55495609	0.999000	0.42202	0.986000	0.45419	0.372000	0.29890	0.788000	0.26872	1.445000	0.47624	0.430000	0.28490	CAG		0.632	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		7	13	0	0	0	0.00308	0	7	13				
NLGN3	54413	broad.mit.edu	37	X	70373331	70373331	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:70373331C>A	ENST00000358741.3	+	4	825	c.522C>A	c.(520-522)tcC>tcA	p.S174S	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Intron|NLGN3_ENST00000374051.3_Silent_p.S154S	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	174					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCCCAGGATCCGGCGCTAAGA	0.557																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzd.1		NA																	0				ovary(1)	1						c.(520-522)TCC>TCA		neuroligin 3							63.0	50.0	55.0					X																	70373331		2203	4300	6503	SO:0001819	synonymous_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70373331C>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.522C>A	X.37:g.70373331C>A						NLGN3_uc010nlb.1_Intron|NLGN3_uc004dzb.2_Silent_p.S154S|NLGN3_uc004dzc.2_Silent_p.S37S|NLGN3_uc011mps.1_Intron|NLGN3_uc004dze.2_5'UTR|NLGN3_uc011mpr.1_Intron	p.S174S	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			3	722	+	Renal(35;0.156)		174			Extracellular (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	c.522C>A	CCDS55441.1																																																																																				0.557	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		6	16	1	0	1.06961e-07	0.00308	1.38267e-07	6	16				
PHKA1	5255	broad.mit.edu	37	X	71840619	71840619	+	Missense_Mutation	SNP	T	T	A	rs368443920		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:71840619T>A	ENST00000373542.4	-	19	2252	c.2093A>T	c.(2092-2094)gAc>gTc	p.D698V	PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000339490.3_Missense_Mutation_p.D698V|PHKA1_ENST00000373539.3_Missense_Mutation_p.D698V|PHKA1_ENST00000541944.1_Intron	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	698					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGACATTAAGTCGCAGGTTGT	0.537																																							uc004eax.3		NA																	0				ovary(3)|skin(1)	4						c.(2092-2094)GAC>GTC		phosphorylase kinase, alpha 1 (muscle) isoform		T	VAL/ASP,,VAL/ASP	1,3834		0,0,1,1632,570	143.0	96.0	112.0		2093,,2093	5.6	1.0	X		112	0,6728		0,0,0,2428,1872	no	missense,intron,missense	PHKA1	NM_001122670.1,NM_001172436.1,NM_002637.3	152,,152	0,0,1,4060,2442	AA,AT,A,TT,T		0.0,0.0261,0.0095	probably-damaging,,probably-damaging	698/1211,,698/1224	71840619	1,10562	2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71840619T>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2093A>T	X.37:g.71840619T>A	ENSP00000362643:p.Asp698Val					PHKA1_uc004eay.3_Missense_Mutation_p.D698V|PHKA1_uc011mqi.1_Intron	p.D698V	NM_002637	NP_002628	P46020	KPB1_HUMAN			19	2394	-	Renal(35;0.156)		698					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2093A>T	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495661	0.64186	2.61E-4	0.0	ENSG00000067177	ENST00000373542;ENST00000339490;ENST00000373539	D;D;D	0.91464	-2.85;-2.82;-2.82	5.58	5.58	0.84498	Glycoside hydrolase 15-related (1);	0.141514	0.64402	D	0.000006	D	0.94205	0.8140	M	0.76838	2.35	0.80722	D	1	B;D	0.57257	0.171;0.979	B;P	0.62740	0.096;0.906	D	0.94142	0.7398	10	0.51188	T	0.08	-12.5606	12.5015	0.55957	0.0:0.0:0.0:1.0	.	698;698	P46020-2;P46020	.;KPB1_HUMAN	V	698	ENSP00000362643:D698V;ENSP00000342469:D698V;ENSP00000362640:D698V	ENSP00000342469:D698V	D	-	2	0	PHKA1	71757344	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.521000	0.73778	1.858000	0.53909	0.486000	0.48141	GAC		0.537	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			11	43	0	0	0	0.008291	0	11	43				
BRWD3	254065	broad.mit.edu	37	X	79947425	79947425	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:79947425C>A	ENST00000373275.4	-	30	3594	c.3378G>T	c.(3376-3378)ttG>ttT	p.L1126F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1126					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAAAGCAGTCAATTCTTCCT	0.423																																							uc004edt.2		NA																	0				ovary(4)	4						c.(3376-3378)TTG>TTT		bromodomain and WD repeat domain containing 3							59.0	49.0	52.0					X																	79947425		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79947425C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3378G>T	X.37:g.79947425C>A	ENSP00000362372:p.Leu1126Phe					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.L722F|BRWD3_uc004edp.2_Missense_Mutation_p.L955F|BRWD3_uc004edq.2_Missense_Mutation_p.L722F|BRWD3_uc010nmj.1_Missense_Mutation_p.L722F|BRWD3_uc004edr.2_Missense_Mutation_p.L796F|BRWD3_uc004eds.2_Missense_Mutation_p.L722F|BRWD3_uc004edu.2_Missense_Mutation_p.L796F|BRWD3_uc004edv.2_Missense_Mutation_p.L722F|BRWD3_uc004edw.2_Missense_Mutation_p.L722F|BRWD3_uc004edx.2_Missense_Mutation_p.L722F|BRWD3_uc004edy.2_Missense_Mutation_p.L722F|BRWD3_uc004edz.2_Missense_Mutation_p.L796F|BRWD3_uc004eea.2_Missense_Mutation_p.L796F|BRWD3_uc004eeb.2_Missense_Mutation_p.L722F	p.L1126F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			30	3641	-			1126					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.3378G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301588	0.60195	.	.	ENSG00000165288	ENST00000373275	T	0.58358	0.34	4.57	-0.723	0.11181	.	0.071925	0.56097	D	0.000024	T	0.52549	0.1741	M	0.63843	1.955	0.39180	D	0.962758	D	0.63046	0.992	P	0.56088	0.791	T	0.51068	-0.8752	9	.	.	.	-5.8898	2.1759	0.03862	0.2688:0.4477:0.128:0.1554	.	1126	Q6RI45	BRWD3_HUMAN	F	1126	ENSP00000362372:L1126F	.	L	-	3	2	BRWD3	79834081	0.640000	0.27243	0.977000	0.42913	0.985000	0.73830	-0.132000	0.10467	-0.557000	0.06126	0.523000	0.50628	TTG		0.423	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		8	18	1	0	1.06961e-07	0.00308	1.38267e-07	8	18				
PCDH11X	27328	broad.mit.edu	37	X	91873896	91873896	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:91873896C>A	ENST00000373094.1	+	7	4846	c.4001C>A	c.(4000-4002)cCg>cAg	p.P1334Q	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1297Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1297Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1326Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1324Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1316Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1334					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1334L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGGCCAGACCGTCCAGAGGT	0.378																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	1	Substitution - Missense(1)		prostate(1)	large_intestine(2)	2						c.(4000-4002)CCG>CAG		protocadherin 11 X-linked isoform c							122.0	116.0	118.0					X																	91873896		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873896C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.4001C>A	X.37:g.91873896C>A	ENSP00000362186:p.Pro1334Gln					PCDH11X_uc004efl.1_Missense_Mutation_p.P1324Q|PCDH11X_uc004efo.1_Missense_Mutation_p.P1297Q|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1326Q|PCDH11X_uc004efn.1_Missense_Mutation_p.P1316Q	p.P1334Q	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4846	+			1334			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.4001C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	4.052	0.007390	0.07866	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.56444	0.48;0.49;0.54;0.46;0.47;0.54	4.09	1.14	0.20703	.	.	.	.	.	T	0.31734	0.0806	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.28128	0.201;0.201;0.201;0.201;0.127	B;B;B;B;B	0.25291	0.059;0.059;0.059;0.059;0.027	T	0.26916	-1.0089	9	0.87932	D	0	.	2.6009	0.04866	0.1522:0.2477:0.4388:0.1613	.	1297;1316;1326;1324;1334	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	Q	1334;1324;1297;1316;1326;1334;1297	ENSP00000362186:P1334Q;ENSP00000362189:P1324Q;ENSP00000362180:P1297Q;ENSP00000355105:P1316Q;ENSP00000384758:P1326Q;ENSP00000298274:P1297Q	ENSP00000298274:P1297Q	P	+	2	0	PCDH11X	91760552	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.121000	0.15667	0.163000	0.19507	-0.496000	0.04628	CCG		0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		25	124	1	0	4.26978e-12	0.00333	5.98672e-12	25	124				
SYTL4	94121	broad.mit.edu	37	X	99956241	99956241	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:99956241C>G	ENST00000372989.1	-	6	742	c.411G>C	c.(409-411)agG>agC	p.R137S	SYTL4_ENST00000454200.2_Missense_Mutation_p.R137S|SYTL4_ENST00000455616.1_Missense_Mutation_p.R137S|SYTL4_ENST00000372981.1_Missense_Mutation_p.R137S|SYTL4_ENST00000263033.5_Missense_Mutation_p.R137S|SYTL4_ENST00000276141.6_Missense_Mutation_p.R137S	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	137					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCAGGGACATCCTGATTATCT	0.453																																							uc004egd.3		NA																	0				ovary(2)	2						c.(409-411)AGG>AGC		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						126.0	109.0	115.0					X																	99956241		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99956241C>G		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.411G>C	X.37:g.99956241C>G	ENSP00000362080:p.Arg137Ser					SYTL4_uc010nnc.2_Missense_Mutation_p.R137S|SYTL4_uc004ege.3_Missense_Mutation_p.R137S|SYTL4_uc004egf.3_Missense_Mutation_p.R137S|SYTL4_uc004egg.3_Missense_Mutation_p.R137S	p.R137S	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN			6	767	-			137					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.411G>C	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	c	19.84	3.901250	0.72754	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.70516	1.7;1.7;1.68;1.7;1.7;-0.49	5.45	4.36	0.52297	.	0.043338	0.85682	D	0.000000	T	0.81898	0.4920	M	0.79123	2.44	0.36570	D	0.872957	D;D	0.89917	1.0;0.998	D;D	0.71414	0.973;0.919	D	0.85560	0.1227	9	.	.	.	-27.2475	11.7618	0.51908	0.0:0.87:0.0:0.13	.	137;137	Q96C24-2;Q96C24	.;SYTL4_HUMAN	S	137	ENSP00000362080:R137S;ENSP00000390252:R137S;ENSP00000403556:R137S;ENSP00000276141:R137S;ENSP00000263033:R137S;ENSP00000362072:R137S	.	R	-	3	2	SYTL4	99842897	0.997000	0.39634	1.000000	0.80357	0.968000	0.65278	0.379000	0.20585	2.426000	0.82243	0.597000	0.82753	AGG		0.453	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		7	28	0	0	0	0.00308	0	7	28				
PAK3	5063	broad.mit.edu	37	X	110395675	110395675	+	Splice_Site	SNP	G	G	C	rs143591118		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:110395675G>C	ENST00000372010.1	+	9	955	c.513G>C	c.(511-513)tcG>tcC	p.S171S	PAK3_ENST00000519681.1_Splice_Site_p.S177S|PAK3_ENST00000425146.1_Splice_Site_p.S156S|PAK3_ENST00000262836.4_Splice_Site_p.S171S|PAK3_ENST00000518291.1_Splice_Site_p.S192S|PAK3_ENST00000360648.4_Splice_Site_p.S192S|PAK3_ENST00000446737.1_Splice_Site_p.S156S|PAK3_ENST00000372007.5_Splice_Site_p.S156S|PAK3_ENST00000417227.1_Splice_Site_p.S177S			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	171	Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCCATCCTTCGGTAAGTGAAA	0.333										TSP Lung(19;0.15)																													uc004epa.2		NA																	0				lung(6)|ovary(3)|large_intestine(1)	10						c.(511-513)TCG>TCC		p21-activated kinase 3 isoform d							82.0	72.0	75.0					X																	110395675		2203	4298	6501	SO:0001630	splice_region_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110395675G>C	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.513+1G>C	X.37:g.110395675G>C		TSP Lung(19;0.15)				PAK3_uc010npt.1_Silent_p.S156S|PAK3_uc010npu.1_Silent_p.S156S|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Silent_p.S156S|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.S192S|PAK3_uc010npw.1_Silent_p.S177S	p.S171S	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			5	540	+			171			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.513G>C	CCDS48153.1																																																																																				0.333	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	Silent	9	33	0	0	0	0.006214	0	9	33				
PAK3	5063	broad.mit.edu	37	X	110439078	110439078	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:110439078A>T	ENST00000372010.1	+	16	1606	c.1164A>T	c.(1162-1164)caA>caT	p.Q388H	PAK3_ENST00000519681.1_Missense_Mutation_p.Q394H|PAK3_ENST00000425146.1_Missense_Mutation_p.Q373H|PAK3_ENST00000262836.4_Missense_Mutation_p.Q388H|PAK3_ENST00000518291.1_Missense_Mutation_p.Q409H|PAK3_ENST00000360648.4_Missense_Mutation_p.Q409H|PAK3_ENST00000446737.1_Missense_Mutation_p.Q373H|PAK3_ENST00000372007.5_Missense_Mutation_p.Q373H|PAK3_ENST00000417227.1_Missense_Mutation_p.Q394H			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	388	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGTGCCTGCAAGCTTTGGATT	0.318										TSP Lung(19;0.15)																													uc004epa.2		NA																	0				lung(6)|ovary(3)|large_intestine(1)	10						c.(1162-1164)CAA>CAT		p21-activated kinase 3 isoform d							106.0	103.0	104.0					X																	110439078		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110439078A>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1164A>T	X.37:g.110439078A>T	ENSP00000361080:p.Gln388His	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.Q373H|PAK3_uc010npu.1_Missense_Mutation_p.Q373H|PAK3_uc004eoy.1_Missense_Mutation_p.Q128H|PAK3_uc004eoz.2_Missense_Mutation_p.Q373H|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.Q409H|PAK3_uc010npw.1_Missense_Mutation_p.Q394H	p.Q388H	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			12	1191	+			388			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.1164A>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.472376	0.63737	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.15	3.96	0.45880	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	0.69433	0.3110	L	0.35723	1.085	0.80722	D	1	D;P;D;P;D	0.58268	0.978;0.901;0.982;0.901;0.982	P;P;P;P;P	0.62491	0.843;0.56;0.903;0.69;0.903	T	0.70332	-0.4901	10	0.51188	T	0.08	.	10.6458	0.45619	0.9195:0.0:0.0805:0.0	.	394;409;388;373;388	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	H	373;373;388;394;373;409;409;394;388	ENSP00000410853:Q373H;ENSP00000401982:Q373H;ENSP00000361080:Q388H;ENSP00000429113:Q394H;ENSP00000361077:Q373H;ENSP00000428921:Q409H;ENSP00000353864:Q409H;ENSP00000389172:Q394H;ENSP00000262836:Q388H	ENSP00000262836:Q388H	Q	+	3	2	PAK3	110325734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.052000	0.57420	1.823000	0.53134	0.486000	0.48141	CAA		0.318	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		19	87	0	0	0	0.001882	0	19	87				
DOCK11	139818	broad.mit.edu	37	X	117722150	117722150	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:117722150C>A	ENST00000276202.7	+	17	1909	c.1846C>A	c.(1846-1848)Caa>Aaa	p.Q616K	DOCK11_ENST00000276204.6_Missense_Mutation_p.Q616K	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	616					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAAGAATTGCCAAAATATTAC	0.318																																							uc004eqp.2		NA																	0				ovary(3)	3						c.(1846-1848)CAA>AAA		dedicator of cytokinesis 11							94.0	91.0	92.0					X																	117722150		2201	4297	6498	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117722150C>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1846C>A	X.37:g.117722150C>A	ENSP00000276202:p.Gln616Lys					DOCK11_uc004eqq.2_Missense_Mutation_p.Q382K	p.Q616K	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			17	1909	+			616					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.1846C>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	9.120	1.008798	0.19199	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.16897	2.31;2.31	5.82	4.96	0.65561	.	0.355042	0.33496	N	0.004845	T	0.11836	0.0288	L	0.31526	0.94	0.32509	N	0.537864	B;B	0.17268	0.021;0.021	B;B	0.17098	0.017;0.017	T	0.15636	-1.0430	10	0.02654	T	1	-6.3316	14.3008	0.66352	0.0:0.7067:0.2933:0.0	.	616;616	A6NIW2;Q5JSL3	.;DOC11_HUMAN	K	616	ENSP00000276204:Q616K;ENSP00000276202:Q616K	ENSP00000276202:Q616K	Q	+	1	0	DOCK11	117606178	0.965000	0.33210	1.000000	0.80357	0.961000	0.63080	1.069000	0.30641	1.225000	0.43566	-0.185000	0.12909	CAA		0.318	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		13	56	1	0	0.00010058	0.001368	0.000115886	13	56				
TENM1	10178	broad.mit.edu	37	X	123516628	123516628	+	Silent	SNP	T	T	C	rs185102844		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:123516628T>C	ENST00000371130.3	-	30	7374	c.7311A>G	c.(7309-7311)caA>caG	p.Q2437Q	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.Q2444Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2437					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CATTGTGTAATTGGAAACCAA	0.338													C|||	1	0.000264901	0.0	0.0	3775	,	,		8716	0.001		0.0	False		,,,				2504	0.0						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7309-7311)CAA>CAG		odz, odd Oz/ten-m homolog 1 isoform 3							120.0	128.0	125.0					X																	123516628		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123516628T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7311A>G	X.37:g.123516628T>C						ODZ1_uc011muj.1_Silent_p.Q2443Q|ODZ1_uc010nqy.2_Silent_p.Q2444Q	p.Q2437Q	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			30	7375	-			2437			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.7311A>G	CCDS14609.1																																																																																				0.338	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		33	150	0	0	0	0.006999	0	33	150				
DCAF12L2	340578	broad.mit.edu	37	X	125298852	125298852	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:125298852G>T	ENST00000360028.2	-	1	1082	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G	DCAF12L2_ENST00000538699.1_Silent_p.G352G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	352										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGACCGCACGCCTGTGCCAC	0.632																																							uc004euk.1		NA																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1054-1056)GGC>GGA		DDB1 and CUL4 associated factor 12-like 2							47.0	51.0	49.0					X																	125298852		2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125298852G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1056C>A	X.37:g.125298852G>T							p.G352G	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1083	-			352			WD 4.		B2RN42	Silent	SNP	ENST00000360028.2	37	c.1056C>A	CCDS43991.1																																																																																				0.632	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		14	75	1	0	3.27435e-08	0.00245	4.31693e-08	14	75				
SAGE1	55511	broad.mit.edu	37	X	134988265	134988265	+	Silent	SNP	C	C	G	rs151240146		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:134988265C>G	ENST00000370709.3	+	5	537	c.537C>G	c.(535-537)ccC>ccG	p.P179P	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Silent_p.P179P|SAGE1_ENST00000324447.3_Silent_p.P179P			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	179						nucleus (GO:0005634)				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)					CAACTGGTCCCACAGGGCTTA	0.433																																							uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(535-537)CCC>CCG		sarcoma antigen 1							134.0	119.0	124.0					X																	134988265		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134988265C>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.537C>G	X.37:g.134988265C>G						SAGE1_uc010nry.1_Silent_p.P148P|SAGE1_uc011mvv.1_Intron	p.P179P	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			6	704	+	Acute lymphoblastic leukemia(192;0.000127)		179					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.537C>G	CCDS14652.1																																																																																				0.433	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		28	89	0	0	0	0.008361	0	28	89				
ARHGEF6	9459	broad.mit.edu	37	X	135829707	135829707	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:135829707C>A	ENST00000250617.6	-	3	1499	c.294G>T	c.(292-294)aaG>aaT	p.K98N	ARHGEF6_ENST00000370622.1_De_novo_Start_OutOfFrame|ARHGEF6_ENST00000535227.1_De_novo_Start_OutOfFrame|ARHGEF6_ENST00000370620.1_De_novo_Start_OutOfFrame	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	98	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TACTCAGTACCTTGGAGAAAT	0.378																																							uc004fab.2		NA																	0					0						c.(292-294)AAG>AAT		Rac/Cdc42 guanine nucleotide exchange factor 6							87.0	78.0	81.0					X																	135829707		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135829707C>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.294G>T	X.37:g.135829707C>A	ENSP00000250617:p.Lys98Asn					ARHGEF6_uc011mwd.1_Translation_Start_Site|ARHGEF6_uc011mwe.1_Translation_Start_Site	p.K98N	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			3	756	-	Acute lymphoblastic leukemia(192;0.000127)		98			CH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.294G>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619158	0.66787	.	.	ENSG00000129675	ENST00000250617	D	0.94613	-3.47	5.57	3.45	0.39498	Calponin homology domain (5);	0.086182	0.85682	D	0.000000	D	0.95526	0.8546	L	0.60957	1.885	0.80722	D	1	D	0.60575	0.988	D	0.68621	0.959	D	0.94939	0.8089	10	0.87932	D	0	.	9.4101	0.38487	0.0:0.7363:0.0:0.2637	.	98	Q15052	ARHG6_HUMAN	N	98	ENSP00000250617:K98N	ENSP00000250617:K98N	K	-	3	2	ARHGEF6	135657373	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.403000	0.34612	1.094000	0.41399	0.529000	0.55759	AAG		0.378	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		10	47	1	0	3.86212e-05	0.008291	4.58951e-05	10	47				
ZIC3	7547	broad.mit.edu	37	X	136649818	136649818	+	Missense_Mutation	SNP	C	C	T	rs122462165		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:136649818C>T	ENST00000287538.5	+	1	1518	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ZIC3_ENST00000370606.3_Missense_Mutation_p.T323M	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	323			T -> M (in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3). {ECO:0000269|PubMed:9354794}.		anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGAGTGCACACGGGCGAGAAG	0.592																																							uc004fak.2		NA																	0				ovary(2)|breast(1)	3	GRCh37	CM971601	ZIC3	M	rs122462165	c.(967-969)ACG>ATG		zinc finger protein of the cerebellum 3							76.0	83.0	80.0					X																	136649818		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649818C>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.968C>T	X.37:g.136649818C>T	ENSP00000287538:p.Thr323Met						p.T323M	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1473	+	Acute lymphoblastic leukemia(192;0.000127)		323		T -> M (in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3).			B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.968C>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019710	0.75275	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	D;D	0.91407	-2.84;-2.84	4.74	4.74	0.60224	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.099000	0.64402	D	0.000002	D	0.93762	0.8006	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94522	0.7728	10	0.87932	D	0	.	15.8067	0.78520	0.0:1.0:0.0:0.0	.	323	O60481	ZIC3_HUMAN	M	323	ENSP00000287538:T323M;ENSP00000359638:T323M	ENSP00000287538:T323M	T	+	2	0	ZIC3	136477484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.646000	0.83445	2.183000	0.69458	0.596000	0.82720	ACG		0.592	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			13	146	0	0	0	0.001855	0	13	146				
ATP2B3	492	broad.mit.edu	37	X	152806836	152806836	+	Silent	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:152806836T>C	ENST00000349466.2	+	3	554	c.228T>C	c.(226-228)aaT>aaC	p.N76N	ATP2B3_ENST00000359149.3_Silent_p.N76N|ATP2B3_ENST00000263519.4_Silent_p.N76N|ATP2B3_ENST00000370186.1_Silent_p.N76N|ATP2B3_ENST00000370181.2_Silent_p.N76N|ATP2B3_ENST00000393842.1_Silent_p.N76N			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	76					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAACACCAATGACCTGGAGA	0.627																																							uc004fht.1		NA																	0				pancreas(1)	1						c.(226-228)AAT>AAC		plasma membrane calcium ATPase 3 isoform 3b							126.0	94.0	105.0					X																	152806836		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152806836T>C	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.228T>C	X.37:g.152806836T>C						ATP2B3_uc004fhs.1_Silent_p.N76N	p.N76N	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			2	354	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		76			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.228T>C	CCDS35440.1																																																																																				0.627	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		28	19	0	0	0	0.003271	0	28	19				
SLC6A15	55117	broad.mit.edu	37	12	85257375	85257375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:85257375delA	ENST00000266682.5	-	11	2202	c.1661delT	c.(1660-1662)atgfs	p.M554fs	SLC6A15_ENST00000552192.1_Frame_Shift_Del_p.M447fs|SLC6A15_ENST00000309283.7_Frame_Shift_Del_p.M262fs	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	554					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TAGGTCTTCCATAAACCTGAA	0.289																																							uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1660-1662)ATGfs		solute carrier family 6, member 15 isoform 1							35.0	38.0	37.0					12																	85257375		2202	4293	6495	SO:0001589	frameshift_variant	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85257375delA	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1661delT	12.37:g.85257375delA	ENSP00000266682:p.Met554fs					SLC6A15_uc010sul.1_Frame_Shift_Del_p.M447fs|SLC6A15_uc001szw.1_Frame_Shift_Del_p.M262fs	p.M554fs	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			11	2154	-			554					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Frame_Shift_Del	DEL	ENST00000266682.5	37	c.1661delT	CCDS9026.1																																																																																				0.289	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		7	37	NA	NA	NA	NA	NA	7	37	---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99672890	99672890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:99672890delC	ENST00000336292.6	+	5	4442	c.4322delC	c.(4321-4323)gcafs	p.A1441fs	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1442	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGCAAGTTAGCAGACAGCAGC	0.532																																					Pancreas(125;1071 1762 21750 40003 40381)	Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4324-4326)GCAfs		desmuslin isoform A							184.0	189.0	187.0					15																	99672890		2104	4218	6322	SO:0001589	frameshift_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672890delC	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4322delC	15.37:g.99672890delC	ENSP00000336775:p.Ala1441fs					SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	p.A1442fs	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	4445	+			1442			Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Frame_Shift_Del	DEL	ENST00000336292.6	37	c.4325delC																																																																																					0.532	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		124	151	NA	NA	NA	NA	NA	124	151	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80037035	80037035	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:80037035delC	ENST00000306749.2	-	43	7738	c.7520delG	c.(7519-7521)agcfs	p.S2507fs	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2507	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTCCCGCACGCTCACGCGTGG	0.692																																					Colon(59;314 1043 11189 28578 32273)	Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NA																	0				central_nervous_system(1)	1						c.(7519-7521)AGCfs		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						54.0	51.0	52.0					17																	80037035		2203	4299	6502	SO:0001589	frameshift_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80037035delC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7520delG	17.37:g.80037035delC	ENSP00000304592:p.Ser2507fs					FASN_uc002kdv.1_RNA	p.S2507fs	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		43	7637	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2507			Thioesterase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000306749.2	37	c.7520delG	CCDS11801.1																																																																																				0.692	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		8	40	NA	NA	NA	NA	NA	8	40	---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30584492	30584492	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr20:30584492delC	ENST00000562532.2	+	3	1146	c.972delC	c.(970-972)tacfs	p.Y324fs		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	324						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCGTCTACAAGCTCTATT	0.617																																							uc002wxe.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(970-972)TACfs		XK, Kell blood group complex subunit-related							84.0	79.0	81.0					20																	30584492		2203	4300	6503	SO:0001589	frameshift_variant	343702					integral to membrane		g.chr20:30584492delC	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.972delC	20.37:g.30584492delC	ENSP00000477059:p.Tyr324fs						p.Y324fs	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1146	+			324			Helical; (Potential).		Q9NUG5	Frame_Shift_Del	DEL	ENST00000562532.2	37	c.972delC	CCDS33459.1																																																																																				0.617	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		12	39	NA	NA	NA	NA	NA	12	39	---	---	---	---
XRCC2	7516	broad.mit.edu	37	7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)ttgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination																															uc003wld.2		NA																	1	Insertion - Frameshift(1)		NS(1)	breast(1)|liver(1)	2						c.(349-351)TTGfs	Homologous_recombination	X-ray repair cross complementing protein 2							79.0	80.0	80.0					7																	152346220		2203	4300	6503	SO:0001589	frameshift_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346220delA	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.350delT	7.37:g.152346220delA	ENSP00000352271:p.Leu117fs						p.L117fs	NM_005431	NP_005422	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	436	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	117					B2R925	Frame_Shift_Del	DEL	ENST00000359321.1	37	c.350delT	CCDS5933.1																																																																																				0.393	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		7	51	NA	NA	NA	NA	NA	7	51	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455991	110455991	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:110455991delA	ENST00000378402.5	+	37	4755	c.4651delA	c.(4651-4653)aaafs	p.K1551fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1551					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			TACCAGGGTTAAAAATTCAAA	0.408										HNSCC(38;0.096)																													uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4651-4653)AAAfs		fibrocystin L precursor							72.0	69.0	70.0					8																	110455991		1827	4072	5899	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455991delA	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.4651delA	8.37:g.110455991delA	ENSP00000367655:p.Lys1551fs	HNSCC(38;0.096)					p.K1551fs	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		37	4755	+			1551			Extracellular (Potential).		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.4651delA	CCDS47911.1																																																																																				0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	47	NA	NA	NA	NA	NA	11	47	---	---	---	---
SLC35A2	7355	broad.mit.edu	37	X	48768836	48768836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:48768836delC	ENST00000247138.5	-	1	81	c.78delG	c.(76-78)gggfs	p.G26fs	PIM2_ENST00000485431.1_5'Flank|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000445167.2_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000376521.1_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000376512.1_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000376529.3_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000376515.3_Intron	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	26					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CACTGGCGGTCCCCGGCTCCA	0.692																																							uc004dlo.1		NA																	0				breast(1)	1						c.(76-78)GGGfs		solute carrier family 35, member A2 isoform a							9.0	8.0	8.0					X																	48768836		2032	3937	5969	SO:0001589	frameshift_variant	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48768836delC	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.78delG	X.37:g.48768836delC	ENSP00000247138:p.Gly26fs					SLC35A2_uc011mml.1_Frame_Shift_Del_p.G26fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.G26fs|SLC35A2_uc011mmm.1_Frame_Shift_Del_p.G26fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.G26fs|SLC35A2_uc004dlr.1_5'Flank|SLC35A2_uc004dlq.2_Frame_Shift_Del_p.G26fs|SLC35A2_uc011mmo.1_Frame_Shift_Del_p.G26fs	p.G26fs	NM_005660	NP_005651	P78381	S35A2_HUMAN			1	82	-			26					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Frame_Shift_Del	DEL	ENST00000247138.5	37	c.78delG	CCDS14311.1																																																																																				0.692	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
PLXNB3	5365	broad.mit.edu	37	X	153040429	153040429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:153040429delC	ENST00000361971.5	+	24	4140	c.4026delC	c.(4024-4026)ttcfs	p.F1342fs	PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.F995fs|PLXNB3_ENST00000538282.1_Frame_Shift_Del_p.P977fs|PLXNB3_ENST00000538966.1_Frame_Shift_Del_p.F1365fs|SRPK3_ENST00000489426.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1342					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCTTCTTCCCTGGCCATG	0.692																																							uc004fii.2		NA																	0				lung(1)	1						c.(4024-4026)TTCfs		plexin B3 isoform 1							38.0	39.0	39.0					X																	153040429		2199	4287	6486	SO:0001589	frameshift_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153040429delC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4026delC	X.37:g.153040429delC	ENSP00000355378:p.Phe1342fs					PLXNB3_uc010nuk.2_Frame_Shift_Del_p.F1365fs|PLXNB3_uc011mzd.1_Frame_Shift_Del_p.F981fs|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	p.F1342fs	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			24	4200	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1342			Cytoplasmic (Potential).		B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Del	DEL	ENST00000361971.5	37	c.4026delC	CCDS14729.1																																																																																				0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			19	54	NA	NA	NA	NA	NA	19	54	---	---	---	---
