#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MASP2	10747	broad.mit.edu	37	1	11087433	11087433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:11087433T>C	ENST00000400897.3	-	11	1585	c.1570A>G	c.(1570-1572)Act>Gct	p.T524A	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	524	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCATCATGAGTATAACCTTCA	0.398																																					GBM(35;611 746 20780 22741 36496)	uc001aru.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1570-1572)ACT>GCT		mannan-binding lectin serine protease 2 isoform							172.0	167.0	168.0					1																	11087433		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11087433T>C	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1570A>G	1.37:g.11087433T>C	ENSP00000383690:p.Thr524Ala						p.T524A	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	11	1591	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	524			Peptidase S1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1570A>G	CCDS123.1	.	.	.	.	.	.	.	.	.	.	T	2.780	-0.253739	0.05829	.	.	ENSG00000009724	ENST00000400897	D	0.92911	-3.13	5.06	2.6	0.31112	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.636150	0.03344	N	0.195210	D	0.86159	0.5866	N	0.25789	0.76	0.19575	N	0.999969	B	0.06786	0.001	B	0.15870	0.014	T	0.71807	-0.4481	10	0.29301	T	0.29	.	4.6363	0.12527	0.1426:0.1576:0.0:0.6999	.	524	O00187	MASP2_HUMAN	A	524	ENSP00000383690:T524A	ENSP00000383690:T524A	T	-	1	0	MASP2	11010020	0.016000	0.18221	0.004000	0.12327	0.947000	0.59692	1.146000	0.31589	0.777000	0.33496	0.460000	0.39030	ACT		0.398	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		15	154	0	0	0	0	15	154				
PTCHD2	57540	broad.mit.edu	37	1	11580836	11580836	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:11580836A>G	ENST00000294484.6	+	10	2431	c.2293A>G	c.(2293-2295)Aac>Gac	p.N765D	PTCHD2_ENST00000389575.3_Missense_Mutation_p.N765D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	765					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCTGATACCAACATCCAGGT	0.642																																						uc001ash.3		NA																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(2293-2295)AAC>GAC		patched domain containing 2							36.0	40.0	39.0					1																	11580836		1977	4141	6118	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11580836A>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2293A>G	1.37:g.11580836A>G	ENSP00000294484:p.Asn765Asp					PTCHD2_uc001asi.1_Missense_Mutation_p.N765D	p.N765D	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	10	2431	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	765			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.2293A>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	32	5.121729	0.94385	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.95518	-3.72;-3.73	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.97087	0.9048	M	0.61703	1.905	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.97507	1.0064	10	0.62326	D	0.03	-53.5226	15.2836	0.73810	1.0:0.0:0.0:0.0	.	765	Q9P2K9	PTHD2_HUMAN	D	765	ENSP00000294484:N765D;ENSP00000374226:N765D	ENSP00000294484:N765D	N	+	1	0	PTCHD2	11503423	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.637000	0.91014	2.200000	0.70718	0.459000	0.35465	AAC		0.642	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		3	20	0	0	0	0	3	20				
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs199623827	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:12885059C>G	ENST00000535591.1	-	4	1247	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C351S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532													.|||	21	0.00419329	0.003	0.0072	5008	,	,		19682	0.001		0.0089	False		,,,				2504	0.002					uc001auk.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(1051-1053)TGC>TCC		PRAME family member 11							36.0	29.0	31.0					1																	12885059		692	1579	2271	SO:0001583	missense	440560							g.chr1:12885059C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1052G>C	1.37:g.12885059C>G	ENSP00000439551:p.Cys351Ser						p.C351S	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1248	-			351			LRR 6.			Missense_Mutation	SNP	ENST00000535591.1	37	c.1052G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.316351	0.00235	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.06371	3.31;3.31	1.52	1.52	0.23074	.	0.067349	0.64402	N	0.000012	T	0.00608	0.0020	N	0.00003	-3.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	10	0.02654	T	1	.	5.7253	0.18010	0.0:0.3438:0.6562:0.0	.	351	O60813	PRA11_HUMAN	S	351;392;351	ENSP00000439551:C351S;ENSP00000391839:C351S	ENSP00000328783:C392S	C	-	2	0	PRAMEF11	12807646	0.578000	0.26717	0.014000	0.15608	0.005000	0.04900	0.846000	0.27682	0.208000	0.20626	-0.483000	0.04790	TGC		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	213	0	0	0	0	5	213				
ARID1A	8289	broad.mit.edu	37	1	27100152	27100152	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:27100152G>A	ENST00000324856.7	+	16	4319	c.3948G>A	c.(3946-3948)tcG>tcA	p.S1316S	ARID1A_ENST00000374152.2_Silent_p.S933S|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Silent_p.S1316S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1316					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1318fs*163(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCCAGACTCGGGGATGTATT	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Deletion - Frameshift(1)	p.M1318fs*163(1)	ovary(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3946-3948)TCG>TCA		AT rich interactive domain 1A isoform a							55.0	63.0	61.0					1																	27100152		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100152G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3948G>A	1.37:g.27100152G>A						ARID1A_uc001bmt.1_Silent_p.S1315S|ARID1A_uc001bmu.1_Silent_p.S1316S|ARID1A_uc001bmw.1_Silent_p.S933S|ARID1A_uc001bmx.1_Silent_p.S162S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.S1316S	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4321	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1316					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.3948G>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	5.732	0.319557	0.10845	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.02	3.03	0.35002	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48445	-0.9035	4	.	.	.	0.0136	5.1592	0.15053	0.0744:0.2711:0.5147:0.1399	.	.	.	.	R	213	.	.	G	+	1	0	ARID1A	26972739	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.705000	0.25675	1.334000	0.45468	0.655000	0.94253	GGG		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		11	52	0	0	0	0	11	52				
CSF3R	1441	broad.mit.edu	37	1	36937036	36937036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:36937036C>T	ENST00000373106.1	-	10	1830	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	CSF3R_ENST00000418048.2_Missense_Mutation_p.R428K|CSF3R_ENST00000373103.1_Missense_Mutation_p.R428K|CSF3R_ENST00000331941.5_Missense_Mutation_p.R428K|CSF3R_ENST00000361632.4_Missense_Mutation_p.R428K|CSF3R_ENST00000338937.5_Missense_Mutation_p.R428K|CSF3R_ENST00000373104.1_Missense_Mutation_p.R428K|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Missense_Mutation_p.R428K	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	428	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCTTTACCTCTGCTTTCTGA	0.577																																						uc001caw.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1282-1284)AGA>AAA		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						95.0	102.0	100.0					1																	36937036		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36937036C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1283G>A	1.37:g.36937036C>T	ENSP00000362198:p.Arg428Lys					CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'UTR|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.R428K|CSF3R_uc001cax.1_Missense_Mutation_p.R428K|CSF3R_uc001cay.1_Missense_Mutation_p.R428K	p.R428K	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			10	1461	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	428			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.1283G>A	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.625|4.625	0.116259|0.116259	0.08881|0.08881	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465|ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	.|T;T;T;T;T;T;T;T	.|0.49139	.|0.93;0.79;0.84;0.93;0.79;0.93;1.59;0.84	5.3|5.3	-0.134|-0.134	0.13481|0.13481	.|Long hematopoietin receptor, Gp130 family 2, conserved site (1);	.|0.233179	.|0.22223	.|N	.|0.062937	T|T	0.28797|0.28797	0.0714|0.0714	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.15473	.|0.013;0.002;0.001;0.004	.|B;B;B;B	.|0.11329	.|0.004;0.003;0.001;0.006	T|T	0.29731|0.29731	-1.0002|-1.0002	5|10	.|0.05351	.|T	.|0.99	-21.5216|-21.5216	5.0182|5.0182	0.14347|0.14347	0.0:0.4355:0.307:0.2574|0.0:0.4355:0.307:0.2574	.|.	.|428;428;428;428	.|E1B6W6;Q99062-3;Q99062;Q99062-4	.|.;.;CSF3R_HUMAN;.	K|K	14|428	.|ENSP00000362198:R428K;ENSP00000362196:R428K;ENSP00000362195:R428K;ENSP00000355406:R428K;ENSP00000332180:R428K;ENSP00000401588:R428K;ENSP00000345013:R428K;ENSP00000397568:R428K	.|ENSP00000332180:R428K	E|R	-|-	1|2	0|0	CSF3R|CSF3R	36709623|36709623	0.007000|0.007000	0.16637|0.16637	0.369000|0.369000	0.25952|0.25952	0.023000|0.023000	0.10783|0.10783	-0.156000|-0.156000	0.10100|0.10100	0.069000|0.069000	0.16605|0.16605	-0.304000|-0.304000	0.09214|0.09214	GAG|AGA		0.577	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		15	146	0	0	0	0	15	146				
ZNHIT6	54680	broad.mit.edu	37	1	86173364	86173364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:86173364C>T	ENST00000370574.3	-	1	737	c.604G>A	c.(604-606)Gag>Aag	p.E202K	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.E163K			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	202	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATCGGAGGCTCTTCTTTCACC	0.463																																						uc001dlh.2		NA																	0				large_intestine(1)	1						c.(604-606)GAG>AAG		zinc finger, HIT type 6							153.0	156.0	155.0					1																	86173364		2203	4300	6503	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86173364C>T	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.604G>A	1.37:g.86173364C>T	ENSP00000359606:p.Glu202Lys					ZNHIT6_uc010osc.1_Missense_Mutation_p.E163K	p.E202K	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN			1	738	-			202			Glu-rich.		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.604G>A	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	36	5.791925	0.96945	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.50001	0.79;0.76	3.78	3.78	0.43462	.	0.264218	0.31221	N	0.008029	T	0.46073	0.1374	L	0.32530	0.975	0.35166	D	0.77114	D;D	0.63880	0.993;0.993	D;D	0.72625	0.978;0.978	T	0.50625	-0.8806	10	0.52906	T	0.07	-15.7854	13.4949	0.61419	0.0:1.0:0.0:0.0	.	163;202	B4DP13;Q9NWK9	.;BCD1_HUMAN	K	163;202	ENSP00000414344:E163K;ENSP00000359606:E202K	ENSP00000359606:E202K	E	-	1	0	ZNHIT6	85945952	1.000000	0.71417	0.791000	0.31998	0.954000	0.61252	2.537000	0.45702	2.092000	0.63282	0.491000	0.48974	GAG		0.463	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		8	153	0	0	0	0	8	153				
RPRD2	23248	broad.mit.edu	37	1	150416840	150416840	+	Silent	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:150416840C>G	ENST00000369068.4	+	6	685	c.681C>G	c.(679-681)ctC>ctG	p.L227L	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Silent_p.L201L|RPRD2_ENST00000539519.1_Silent_p.L201L	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	227						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGAAACTCTCAAATGCTTAA	0.383																																						uc009wlr.2		NA																	0				ovary(1)	1						c.(679-681)CTC>CTG		Regulation of nuclear pre-mRNA domain containing							110.0	108.0	109.0					1																	150416840		1907	4109	6016	SO:0001819	synonymous_variant	23248						protein binding	g.chr1:150416840C>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.681C>G	1.37:g.150416840C>G						RPRD2_uc010pcc.1_Silent_p.L201L|RPRD2_uc001eup.3_Silent_p.L201L	p.L227L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			6	882	+			227					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	c.681C>G	CCDS44216.1																																																																																				0.383	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		3	60	0	0	0	0	3	60				
IDI1	3422	broad.mit.edu	37	10	1087328	1087328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:1087328C>G	ENST00000381344.3	-	5	820	c.654G>C	c.(652-654)ttG>ttC	p.L218F	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	161					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GATCTGGATTCAAAGTTACAT	0.343																																						uc001iga.2		NA																	0					0						c.(652-654)TTG>TTC		isopentenyl-diphosphate delta isomerase							93.0	92.0	92.0					10																	1087328		2203	4299	6502	SO:0001583	missense	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1087328C>G	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.654G>C	10.37:g.1087328C>G	ENSP00000370748:p.Leu218Phe					C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron|IDI1_uc001ifz.2_Missense_Mutation_p.L162F|IDI1_uc001igb.2_RNA|IDI1_uc001igc.2_Missense_Mutation_p.L162F	p.L218F	NM_004508	NP_004499	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	5	772	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	161			Nudix hydrolase.		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	ENST00000381344.3	37	c.654G>C	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246465	0.39697	.	.	ENSG00000067064	ENST00000381344	T	0.08458	3.09	5.73	2.73	0.32206	.	0.067704	0.64402	D	0.000016	T	0.20210	0.0486	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	D	0.63192	0.912	T	0.00719	-1.1595	10	0.62326	D	0.03	-3.4795	5.5648	0.17165	0.2371:0.5608:0.0:0.2021	.	218	Q13907-2	.	F	218	ENSP00000370748:L218F	ENSP00000370748:L218F	L	-	3	2	IDI1	1077328	0.999000	0.42202	0.993000	0.49108	0.153000	0.21895	0.654000	0.24918	1.557000	0.49525	0.655000	0.94253	TTG		0.343	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		20	50	0	0	0	0	20	50				
C10orf71	118461	broad.mit.edu	37	10	50531131	50531131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:50531131G>C	ENST00000374144.3	+	3	829	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q	C10orf71_ENST00000323868.4_Missense_Mutation_p.E181Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	181										endometrium(1)	1						TCCTCTTCCAGAAAACAGTGT	0.532																																						uc010qgp.1		NA																	0					0						c.(541-543)GAA>CAA		hypothetical protein LOC118461 isoform 2							31.0	32.0	32.0					10																	50531131		1991	4171	6162	SO:0001583	missense	118461							g.chr10:50531131G>C	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.541G>C	10.37:g.50531131G>C	ENSP00000363259:p.Glu181Gln						p.E181Q	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	880	+			181					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.541G>C	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284109	0.59867	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.17370	2.28;3.4	5.19	5.19	0.71726	.	0.413415	0.20471	N	0.091693	T	0.23289	0.0563	M	0.62723	1.935	0.31510	N	0.663706	B	0.32365	0.367	B	0.32864	0.154	T	0.11012	-1.0605	10	0.36615	T	0.2	.	18.7082	0.91646	0.0:0.0:1.0:0.0	.	181	Q711Q0-3	.	Q	181	ENSP00000318713:E181Q;ENSP00000363259:E181Q	ENSP00000318713:E181Q	E	+	1	0	C10orf71	50201137	1.000000	0.71417	0.983000	0.44433	0.650000	0.38633	4.566000	0.60843	2.420000	0.82092	0.561000	0.74099	GAA		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		11	28	0	0	0	0	11	28				
PTEN	5728	broad.mit.edu	37	10	89692805	89692805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:89692805C>T	ENST00000371953.3	+	5	1646	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	97	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAACCCACCACAGCTAGAACT	0.363		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)	p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM992426	PTEN	M		c.(289-291)CAG>TAG		phosphatase and tensin homolog							107.0	99.0	102.0					10																	89692805		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692805C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.289C>T	10.37:g.89692805C>T	ENSP00000361021:p.Gln97*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Q97*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1320	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	97			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.289C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.178714	0.99783	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.4177	18.4584	0.90729	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	.	Q	+	1	0	PTEN	89682785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.448000	0.80631	2.318000	0.78349	0.655000	0.94253	CAG		0.363	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		28	64	0	0	0	0	28	64				
APOA5	116519	broad.mit.edu	37	11	116661095	116661095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:116661095G>A	ENST00000227665.4	-	3	884	c.850C>T	c.(850-852)Cga>Tga	p.R284*	APOA5_ENST00000542499.1_Nonsense_Mutation_p.R284*|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	284					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCCTGAAGTCGCTGGCGCACC	0.662																																						uc001ppr.2		NA																	0					0						c.(850-852)CGA>TGA		apolipoprotein AV precursor							66.0	72.0	70.0					11																	116661095		2201	4296	6497	SO:0001587	stop_gained	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661095G>A	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.850C>T	11.37:g.116661095G>A	ENSP00000227665:p.Arg284*					ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Nonsense_Mutation_p.R284*|APOA5_uc009yzf.2_Nonsense_Mutation_p.R284*|APOA5_uc009yzg.2_Nonsense_Mutation_p.R310*	p.R284*	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	3	858	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	284					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Nonsense_Mutation	SNP	ENST00000227665.4	37	c.850C>T	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036702	0.54896	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	.	.	.	4.75	-2.01	0.07410	.	0.000000	0.40908	D	0.000997	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8156	15.491	0.75605	0.0:0.0:0.2763:0.7237	.	.	.	.	X	284	.	ENSP00000227665:R284X	R	-	1	2	APOA5	116166305	0.331000	0.24713	0.995000	0.50966	0.418000	0.31294	0.455000	0.21843	-0.187000	0.10516	-1.194000	0.01681	CGA		0.662	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			8	61	0	0	0	0	8	61				
KMT2A	4297	broad.mit.edu	37	11	118375875	118375875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:118375875C>T	ENST00000389506.5	+	27	9259	c.9259C>T	c.(9259-9261)Cca>Tca	p.P3087S	KMT2A_ENST00000534358.1_Missense_Mutation_p.P3090S|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3049S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3087					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAACATGCAGCCACTTTATGT	0.468																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(9259-9261)CCA>TCA		myeloid/lymphoid or mixed-lineage leukemia							133.0	136.0	135.0					11																	118375875		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118375875C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9259C>T	11.37:g.118375875C>T	ENSP00000374157:p.Pro3087Ser					MLL_uc001ptb.2_Missense_Mutation_p.P3090S	p.P3087S	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	9282	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3087					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.9259C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780541	0.49891	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.91295	-2.81;-2.82;-2.74	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.94652	0.7840	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	3090;3087	E9PQG7;Q03164	.;MLL1_HUMAN	S	3090;3087;3049;1997	ENSP00000436786:P3090S;ENSP00000374157:P3087S;ENSP00000346516:P3049S	ENSP00000346516:P3049S	P	+	1	0	MLL	117881085	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	CCA		0.468	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		17	137	0	0	0	0	17	137				
NCAPD3	23310	broad.mit.edu	37	11	134038398	134038398	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:134038398G>A	ENST00000534548.2	-	26	3403	c.3339C>T	c.(3337-3339)ttC>ttT	p.F1113F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1113					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAGTGATGTTGAATCGCTGTT	0.403																																						uc001qhd.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(3337-3339)TTC>TTT		non-SMC condensin II complex, subunit D3							136.0	129.0	131.0					11																	134038398		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134038398G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3339C>T	11.37:g.134038398G>A						NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Silent_p.F63F	p.F1113F	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	26	3945	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1113					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.3339C>T	CCDS31723.1																																																																																				0.403	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		5	59	0	0	0	0	5	59				
AVPR1A	552	broad.mit.edu	37	12	63541189	63541189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr12:63541189C>T	ENST00000299178.2	-	2	1312	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	403					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TTAGGCGAGTCCTTCCACATA	0.383																																						uc001sro.1		NA																	0					0						c.(1207-1209)GAC>AAC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						228.0	210.0	216.0					12																	63541189		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63541189C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1207G>A	12.37:g.63541189C>T	ENSP00000299178:p.Asp403Asn						p.D403N	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	2	3181	-			403			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.1207G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225507	0.58668	.	.	ENSG00000166148	ENST00000299178	T	0.59772	0.24	6.17	6.17	0.99709	Domain of unknown function DUF1856 (1);	0.532682	0.22981	N	0.053304	T	0.58323	0.2114	L	0.58669	1.825	0.49798	D	0.999826	B	0.20988	0.05	B	0.24269	0.052	T	0.50162	-0.8860	9	.	.	.	-21.9283	19.8676	0.96824	0.0:1.0:0.0:0.0	.	403	P37288	V1AR_HUMAN	N	403	ENSP00000299178:D403N	.	D	-	1	0	AVPR1A	61827456	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	5.578000	0.67450	2.941000	0.99782	0.655000	0.94253	GAC		0.383	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			7	104	0	0	0	0	7	104				
SETD8	387893	broad.mit.edu	37	12	123875278	123875278	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr12:123875278T>G	ENST00000402868.3	+	3	660	c.234T>G	c.(232-234)caT>caG	p.H78Q	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Missense_Mutation_p.H78Q			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	119					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CAGTTACACATCACGAAGTCA	0.478																																						uc001uew.2		NA																	0					0						c.(232-234)CAT>CAG		SET domain-containing 8							113.0	106.0	109.0					12																	123875278		2203	4300	6503	SO:0001583	missense	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123875278T>G	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.234T>G	12.37:g.123875278T>G	ENSP00000384629:p.His78Gln					SETD8_uc001uex.2_Missense_Mutation_p.H13Q	p.H78Q	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	3	276	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		119					A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	37	c.234T>G	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.775862	0.49786	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D	0.98455	-4.94;-4.94	5.29	2.83	0.33086	.	0.253599	0.40144	N	0.001174	D	0.94265	0.8158	L	0.31065	0.9	0.33143	D	0.544635	B;B	0.15473	0.013;0.0	B;B	0.10450	0.005;0.003	D	0.90575	0.4525	10	0.52906	T	0.07	-8.4095	4.7709	0.13155	0.1388:0.1504:0.0:0.7108	.	119;78	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	Q	78;78;69	ENSP00000384629:H78Q;ENSP00000332995:H78Q	ENSP00000332995:H78Q	H	+	3	2	SETD8	122441231	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.814000	0.27239	0.293000	0.22520	0.459000	0.35465	CAT		0.478	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		4	48	0	0	0	0	4	48				
ATP11A	23250	broad.mit.edu	37	13	113479843	113479843	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr13:113479843G>A	ENST00000487903.1	+	11	1060	c.972G>A	c.(970-972)cgG>cgA	p.R324R	ATP11A_ENST00000375630.2_Silent_p.R324R|ATP11A_ENST00000283558.8_Silent_p.R324R|ATP11A_ENST00000375645.3_Silent_p.R324R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	324					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCCCTTTCGGGATGAGCCGT	0.488																																						uc001vsi.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(970-972)CGG>CGA		ATPase, class VI, type 11A isoform a							107.0	95.0	99.0					13																	113479843		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113479843G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.972G>A	13.37:g.113479843G>A						ATP11A_uc001vsj.3_Silent_p.R324R|ATP11A_uc001vsm.1_Silent_p.R200R	p.R324R	NM_015205	NP_056020	P98196	AT11A_HUMAN			11	1060	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	324			Extracellular (Potential).		Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.972G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	8.213	0.800667	0.16397	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.14	-2.09	0.07232	.	.	.	.	.	T	0.37679	0.1012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28713	-1.0035	4	.	.	.	.	0.0459	0.00010	0.2759:0.2146:0.2272:0.2823	.	.	.	.	E	299	.	.	G	+	2	0	ATP11A	112527844	0.045000	0.20229	0.964000	0.40570	0.694000	0.40290	-0.153000	0.10144	-0.625000	0.05604	-0.424000	0.05967	GGG		0.488	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		11	43	0	0	0	0	11	43				
FOXG1	2290	broad.mit.edu	37	14	29237514	29237514	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr14:29237514C>T	ENST00000313071.4	+	1	1228	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	FOXG1_ENST00000382535.3_Silent_p.S343S	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	343					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTACAGCTCCGTGTTGACTC	0.652																																						uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(1027-1029)TCC>TCT		forkhead box G1							113.0	105.0	108.0					14																	29237514		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237514C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1029C>T	14.37:g.29237514C>T							p.S343S	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1228	+			343					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.1029C>T	CCDS9636.1																																																																																				0.652	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			18	125	0	0	0	0	18	125				
FAM71D	161142	broad.mit.edu	37	14	67671543	67671543	+	3'UTR	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr14:67671543C>T	ENST00000556046.1	+	0	1190							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CATCCTGACCCCGTACATGTA	0.498																																						uc001xja.1		NA																	0				ovary(1)	1						c.(649-651)CCG>TCG		hypothetical protein LOC161142							133.0	119.0	124.0					14																	67671543		2203	4300	6503	SO:0001624	3_prime_UTR_variant	161142							g.chr14:67671543C>T		CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*705C>T	14.37:g.67671543C>T						FAM71D_uc010aqn.1_RNA	p.P217S	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)	5	903	+		all_hematologic(31;0.0116)	217					Q86VN4	Missense_Mutation	SNP	ENST00000556046.1	37	c.649C>T																																																																																					0.498	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526		5	113	0	0	0	0	5	113				
AP4E1	23431	broad.mit.edu	37	15	51223158	51223158	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:51223158G>C	ENST00000261842.5	+	7	965	c.859G>C	c.(859-861)Gat>Cat	p.D287H	AP4E1_ENST00000560508.1_Missense_Mutation_p.D212H	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	287					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTAGGAAAAGATGATCAAAG	0.388																																						uc001zyx.1		NA																	0					0						c.(859-861)GAT>CAT		adaptor-related protein complex 4, epsilon 1							104.0	106.0	105.0					15																	51223158		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51223158G>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.859G>C	15.37:g.51223158G>C	ENSP00000261842:p.Asp287His					AP4E1_uc010ufi.1_Missense_Mutation_p.D287H|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	p.D287H	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	7	889	+			287					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.859G>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.774875	0.70107	.	.	ENSG00000081014	ENST00000261842	T	0.25414	1.8	6.02	6.02	0.97574	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.045243	0.85682	D	0.000000	T	0.47488	0.1448	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.81914	0.865;0.995	T	0.22941	-1.0202	10	0.59425	D	0.04	-16.6271	19.5289	0.95219	0.0:0.0:1.0:0.0	.	287;287	B4DM48;Q9UPM8	.;AP4E1_HUMAN	H	287	ENSP00000261842:D287H	ENSP00000261842:D287H	D	+	1	0	AP4E1	49010450	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.268000	0.78473	2.865000	0.98341	0.655000	0.94253	GAT		0.388	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			3	104	0	0	0	0	3	104				
HERC1	8925	broad.mit.edu	37	15	63978682	63978682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:63978682G>A	ENST00000443617.2	-	34	6188	c.6101C>T	c.(6100-6102)tCc>tTc	p.S2034F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2034	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGGGTCAAAGGATACTTCTTG	0.453																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(6100-6102)TCC>TTC		hect domain and RCC1-like domain 1							156.0	156.0	156.0					15																	63978682		1937	4134	6071	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63978682G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6101C>T	15.37:g.63978682G>A	ENSP00000390158:p.Ser2034Phe						p.S2034F	NM_003922	NP_003913	Q15751	HERC1_HUMAN			34	6249	-			2034			B30.2/SPRY.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6101C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142006	0.77775	.	.	ENSG00000103657	ENST00000443617	T	0.61392	0.11	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	L	0.36672	1.1	0.80722	D	1	P	0.41041	0.736	P	0.44477	0.451	T	0.61657	-0.7018	10	0.87932	D	0	.	19.6801	0.95958	0.0:0.0:1.0:0.0	.	2034	Q15751	HERC1_HUMAN	F	2034	ENSP00000390158:S2034F	ENSP00000390158:S2034F	S	-	2	0	HERC1	61765735	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	8.031000	0.88826	2.652000	0.90054	0.655000	0.94253	TCC		0.453	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		23	173	0	0	0	0	23	173				
C15orf27	123591	broad.mit.edu	37	15	76449066	76449066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:76449066C>G	ENST00000388942.3	+	4	625	c.349C>G	c.(349-351)Ctg>Gtg	p.L117V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	117					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCTCCTGACTCTGGAACTTCT	0.423																																						uc002bbq.2		NA																	0					0						c.(349-351)CTG>GTG		hypothetical protein LOC123591							120.0	121.0	121.0					15																	76449066		1940	4138	6078	SO:0001583	missense	123591					integral to membrane		g.chr15:76449066C>G	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.349C>G	15.37:g.76449066C>G	ENSP00000373594:p.Leu117Val					C15orf27_uc010bkp.2_Intron|C15orf27_uc002bbr.2_Intron	p.L117V	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			4	504	+			117			Helical; (Potential).		Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.349C>G	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237033	0.58886	.	.	ENSG00000169758	ENST00000388942	D	0.97959	-4.63	5.3	4.35	0.52113	.	0.108387	0.39407	N	0.001374	D	0.94873	0.8343	L	0.49640	1.575	0.41912	D	0.990479	B	0.31318	0.319	B	0.30105	0.111	D	0.92489	0.5999	10	0.48119	T	0.1	-6.1582	6.9468	0.24522	0.1697:0.7378:0.0:0.0925	.	117	Q2M3C6	CO027_HUMAN	V	117	ENSP00000373594:L117V	ENSP00000373594:L117V	L	+	1	2	C15orf27	74236121	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	2.615000	0.46368	1.162000	0.42619	0.655000	0.94253	CTG		0.423	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		4	43	0	0	0	0	4	43				
VWA3A	146177	broad.mit.edu	37	16	22161162	22161162	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr16:22161162G>A	ENST00000389398.5	+	29	3135	c.3039G>A	c.(3037-3039)gtG>gtA	p.V1013V	VWA3A_ENST00000563755.1_Silent_p.V115V|VWA3A_ENST00000389397.4_Silent_p.V115V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1013	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACACGCTGGTGGAGACCACAG	0.557																																						uc010vbq.1		NA																	0				skin(1)	1						c.(3037-3039)GTG>GTA		von Willebrand factor A domain containing 3A							36.0	37.0	37.0					16																	22161162		1999	4156	6155	SO:0001819	synonymous_variant	146177					extracellular region		g.chr16:22161162G>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3039G>A	16.37:g.22161162G>A						VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Silent_p.V91V|VWA3A_uc010bxe.1_Silent_p.V115V	p.V1013V	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	29	3135	+			1013			VWFA 2.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	ENST00000389398.5	37	c.3039G>A	CCDS45441.1																																																																																				0.557	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			5	14	0	0	0	0	5	14				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM941329	TP53	M		c.(586-588)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	p.R196*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	34	0	0	0	0	4	34				
DNAH9	1770	broad.mit.edu	37	17	11757554	11757554	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:11757554C>T	ENST00000262442.4	+	50	9810	c.9742C>T	c.(9742-9744)Ccc>Tcc	p.P3248S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3248	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGCAAGACCCCGAGTTCAA	0.488																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9742-9744)CCC>TCC		dynein, axonemal, heavy chain 9 isoform 2							151.0	139.0	143.0					17																	11757554		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757554C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9742C>T	17.37:g.11757554C>T	ENSP00000262442:p.Pro3248Ser					DNAH9_uc010coo.2_Missense_Mutation_p.P2542S	p.P3248S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9810	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3248			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9742C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182759	0.57800	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.81739	-1.53;-1.53	5.54	5.54	0.83059	Dynein heavy chain, coiled coil stalk (1);	0.125552	0.53938	D	0.000045	D	0.86719	0.6000	M	0.80028	2.48	0.80722	D	1	P	0.40230	0.708	P	0.49477	0.612	D	0.87083	0.2167	10	0.56958	D	0.05	.	15.985	0.80144	0.0:0.8656:0.1344:0.0	.	3248	Q9NYC9	DYH9_HUMAN	S	3248;3248;1830	ENSP00000262442:P3248S;ENSP00000414874:P3248S	ENSP00000262442:P3248S	P	+	1	0	DNAH9	11698279	1.000000	0.71417	0.994000	0.49952	0.287000	0.27160	5.512000	0.67030	2.880000	0.98712	0.650000	0.86243	CCC		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	157	0	0	0	0	13	157				
SSH2	85464	broad.mit.edu	37	17	27958010	27958010	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:27958010A>T	ENST00000269033.3	-	15	4272	c.4121T>A	c.(4120-4122)gTg>gAg	p.V1374E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.V1401E	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1374					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCTGTAGCACGGGAAGGCC	0.567																																						uc002heo.1		NA																	0				skin(2)	2						c.(4120-4122)GTG>GAG		slingshot 2							118.0	104.0	109.0					17																	27958010		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958010A>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.4121T>A	17.37:g.27958010A>T	ENSP00000269033:p.Val1374Glu					SSH2_uc010wbh.1_Missense_Mutation_p.V1401E	p.V1374E	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	4121	-			1374					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.4121T>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	A	7.638	0.680258	0.14907	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.08807	3.05;3.05	6.17	-3.99	0.04069	.	1.355160	0.04541	N	0.388108	T	0.04497	0.0123	N	0.08118	0	0.35009	D	0.75672	B;B	0.19817	0.039;0.023	B;B	0.18871	0.023;0.01	T	0.32534	-0.9903	10	0.59425	D	0.04	1.6115	6.913	0.24344	0.3954:0.3117:0.2929:0.0	.	1401;1374	F5H527;Q76I76	.;SSH2_HUMAN	E	1374;1401	ENSP00000269033:V1374E;ENSP00000444743:V1401E	ENSP00000269033:V1374E	V	-	2	0	SSH2	24982136	0.001000	0.12720	0.135000	0.22099	0.185000	0.23345	-0.005000	0.12855	-0.282000	0.09128	-0.250000	0.11733	GTG		0.567	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		10	70	0	0	0	0	10	70				
BECN1	8678	broad.mit.edu	37	17	40968043	40968043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:40968043C>T	ENST00000361523.4	-	8	845	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	BECN1_ENST00000438274.3_Missense_Mutation_p.R162Q|BECN1_ENST00000590099.1_Missense_Mutation_p.R238Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	238					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGCTGCTGTCGTTTAAATTC	0.473																																						uc002ibo.3		NA																	0				ovary(1)	1						c.(712-714)CGA>CAA		beclin 1							149.0	129.0	136.0					17																	40968043		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40968043C>T	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.713G>A	17.37:g.40968043C>T	ENSP00000355231:p.Arg238Gln					BECN1_uc010whb.1_Missense_Mutation_p.R151Q|BECN1_uc010whc.1_Missense_Mutation_p.R162Q|BECN1_uc002ibn.2_Missense_Mutation_p.R238Q	p.R238Q	NM_003766	NP_003757	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	8	848	-		Breast(137;0.00104)	238			Potential.		B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.713G>A	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360975	0.95877	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.44083	0.93;2.5	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	M	0.62266	1.93	0.80722	D	1	D;D	0.61080	0.975;0.989	P;P	0.52386	0.697;0.689	T	0.43376	-0.9395	10	0.27785	T	0.31	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	162;238	E7EV84;Q14457	.;BECN1_HUMAN	Q	238;162;151	ENSP00000355231:R238Q;ENSP00000416173:R162Q	ENSP00000355231:R238Q	R	-	2	0	BECN1	38221569	1.000000	0.71417	0.987000	0.45799	0.912000	0.54170	7.578000	0.82498	2.820000	0.97059	0.650000	0.86243	CGA		0.473	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		7	90	0	0	0	0	7	90				
MAP3K14	9020	broad.mit.edu	37	17	43351864	43351864	+	RNA	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:43351864G>A	ENST00000344686.2	-	0	1492							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGACCCAAGGCCCTTCTCTC	0.547																																						uc002iiw.1		NA																	0				central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						c.(1387-1389)CCT>TCT		mitogen-activated protein kinase kinase kinase							63.0	68.0	67.0					17																	43351864		2054	4204	6258			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43351864G>A	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43351864G>A						MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.P47S	p.P463S	NM_003954	NP_003945	Q99558	M3K14_HUMAN			8	1496	-			463			Interaction with ZFP91.|Protein kinase.		A8K2D8|D3DX67|Q8IYN1	Missense_Mutation	SNP	ENST00000344686.2	37	c.1387C>T		.	.	.	.	.	.	.	.	.	.	G	14.35	2.510437	0.44660	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.38	3.38	0.38709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.124523	0.52532	D	0.000067	T	0.34600	0.0903	N	0.17800	0.525	0.34255	D	0.679239	B	0.21071	0.051	B	0.20577	0.03	T	0.40496	-0.9560	8	0.25751	T	0.34	.	11.364	0.49660	0.1337:0.0:0.8663:0.0	.	463	Q99558	M3K14_HUMAN	S	462;246	.	ENSP00000342059:P462S	P	-	1	0	MAP3K14	40707647	1.000000	0.71417	0.961000	0.40146	0.935000	0.57460	5.450000	0.66626	2.531000	0.85337	0.561000	0.74099	CCT		0.547	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		5	29	0	0	0	0	5	29				
SPATA20	64847	broad.mit.edu	37	17	48631733	48631733	+	Silent	SNP	C	C	T	rs147637130	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:48631733C>T	ENST00000356488.4	+	14	2114	c.2031C>T	c.(2029-2031)tcC>tcT	p.S677S	CACNA1G-AS1_ENST00000508920.1_RNA|SPATA20_ENST00000006658.6_Silent_p.S693S|CACNA1G-AS1_ENST00000505793.1_RNA|CACNA1G-AS1_ENST00000505495.1_RNA|SPATA20_ENST00000393244.3_Silent_p.S633S|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	677					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGCCTTTTCCGAGCGCATGC	0.647													C|||	15	0.00299521	0.0098	0.0	5008	,	,		19247	0.0		0.002	False		,,,				2504	0.0					uc002irf.2		NA																	0					0						c.(2029-2031)TCC>TCT		spermatogenesis associated 20		C		19,4387	26.2+/-53.5	0,19,2184	149.0	114.0	126.0		2079	-11.0	0.4	17	dbSNP_134	126	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	SPATA20	NM_022827.2		0,33,6470	TT,TC,CC		0.1628,0.4312,0.2537		693/803	48631733	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48631733C>T		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.2031C>T	17.37:g.48631733C>T						SPATA20_uc002irc.2_Silent_p.S344S|SPATA20_uc002ire.2_Silent_p.S633S|SPATA20_uc002ird.2_Silent_p.S693S|SPATA20_uc002irg.2_RNA	p.S677S	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		14	2172	+	Breast(11;1.23e-18)		677					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	c.2031C>T	CCDS58563.1																																																																																				0.647	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		11	99	0	0	0	0	11	99				
MFSD11	79157	broad.mit.edu	37	17	74740437	74740437	+	Missense_Mutation	SNP	C	C	T	rs183691521	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:74740437C>T	ENST00000588460.1	+	7	2572	c.530C>T	c.(529-531)aCg>aTg	p.T177M	MFSD11_ENST00000586622.1_Missense_Mutation_p.T177M|MFSD11_ENST00000336509.4_Missense_Mutation_p.T177M|MFSD11_ENST00000590514.1_Missense_Mutation_p.T177M|MFSD11_ENST00000593181.1_Missense_Mutation_p.T125M|MFSD11_ENST00000355954.3_Missense_Mutation_p.T125M	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	177						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						ATTGCCCTAACGGTGATTAGC	0.413													C|||	4	0.000798722	0.0	0.0	5008	,	,		19571	0.003		0.0	False		,,,				2504	0.001					uc002jta.2		NA																	0				ovary(1)	1						c.(529-531)ACG>ATG		major facilitator superfamily domain containing							193.0	166.0	175.0					17																	74740437		2203	4300	6503	SO:0001583	missense	79157					integral to membrane		g.chr17:74740437C>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.530C>T	17.37:g.74740437C>T	ENSP00000464932:p.Thr177Met					MFSD11_uc002jtb.2_Missense_Mutation_p.T177M|MFSD11_uc010dha.2_Missense_Mutation_p.T125M|MFSD11_uc002jtc.2_Missense_Mutation_p.T177M|MFSD11_uc002jtd.3_Missense_Mutation_p.T177M|MFSD11_uc010dhb.2_Missense_Mutation_p.T125M|MFSD11_uc002jte.2_Missense_Mutation_p.T177M	p.T177M	NM_024311	NP_077287	O43934	MFS11_HUMAN			8	1503	+			177			Helical; (Potential).		O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000588460.1	37	c.530C>T	CCDS11750.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	18.55	3.647219	0.67358	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.80994	-1.44;-1.44	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.84524	0.5491	M	0.77313	2.365	0.80722	D	1	D;D	0.71674	0.998;0.963	P;P	0.56648	0.803;0.579	D	0.85873	0.1417	10	0.45353	T	0.12	-13.9913	19.571	0.95419	0.0:1.0:0.0:0.0	.	125;177	O43934-2;O43934	.;MFS11_HUMAN	M	177;125	ENSP00000337240:T177M;ENSP00000348225:T125M	ENSP00000337240:T177M	T	+	2	0	MFSD11	72252032	1.000000	0.71417	0.793000	0.32043	0.308000	0.27856	6.121000	0.71602	2.709000	0.92574	0.655000	0.94253	ACG		0.413	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		10	80	0	0	0	0	10	80				
ANKRD30B	374860	broad.mit.edu	37	18	14799113	14799113	+	Missense_Mutation	SNP	T	T	A	rs536993823	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr18:14799113T>A	ENST00000358984.4	+	21	2223	c.2043T>A	c.(2041-2043)aaT>aaA	p.N681K	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	681										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTCCTGATAATGATGGTCTTC	0.284													T|||	2	0.000399361	0.0	0.0029	5008	,	,		16921	0.0		0.0	False		,,,				2504	0.0					uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(2041-2043)AAT>AAA		ankyrin repeat domain 30B							84.0	60.0	68.0					18																	14799113		692	1587	2279	SO:0001583	missense	374860							g.chr18:14799113T>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2043T>A	18.37:g.14799113T>A	ENSP00000351875:p.Asn681Lys					ANKRD30B_uc010xak.1_RNA	p.N681K	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			21	2223	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.2043T>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.630392	0.00115	.	.	ENSG00000180777	ENST00000358984	T	0.03889	3.77	0.968	-0.471	0.12119	.	.	.	.	.	T	0.00998	0.0033	N	0.00413	-1.525	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45804	-0.9236	9	0.02654	T	1	.	3.0199	0.06072	0.6032:0.0:0.0:0.3968	.	681	F8WAG3	.	K	681	ENSP00000351875:N681K	ENSP00000351875:N681K	N	+	3	2	ANKRD30B	14789113	0.004000	0.15560	0.002000	0.10522	0.003000	0.03518	0.817000	0.27281	-0.124000	0.11724	-1.316000	0.01300	AAT		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		4	35	0	0	0	0	4	35				
KEAP1	9817	broad.mit.edu	37	19	10610205	10610205	+	Missense_Mutation	SNP	G	G	A	rs539818436		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:10610205G>A	ENST00000171111.5	-	2	1052	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R169C|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	169					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R169C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CTGCAGGCACGGACAACGCTG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20933	0.001		0.0	False		,,,				2504	0.0					uc002moq.1		NA																	1	Substitution - Missense(1)		endometrium(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(505-507)CGT>TGT		kelch-like ECH-associated protein 1							161.0	128.0	139.0					19																	10610205		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610205G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.505C>T	19.37:g.10610205G>A	ENSP00000171111:p.Arg169Cys					KEAP1_uc002mor.1_Missense_Mutation_p.R169C	p.R169C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	661	-			169					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.505C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492398	0.64074	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.68765	-0.35;-0.35	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.123074	0.53938	D	0.000050	T	0.65688	0.2715	L	0.43598	1.365	0.45118	D	0.998138	D	0.67145	0.996	P	0.51229	0.663	T	0.69599	-0.5102	10	0.87932	D	0	.	10.6208	0.45478	0.0:0.0:0.808:0.192	.	169	Q14145	KEAP1_HUMAN	C	169	ENSP00000171111:R169C;ENSP00000377245:R169C	ENSP00000171111:R169C	R	-	1	0	KEAP1	10471205	0.098000	0.21812	0.923000	0.36655	0.799000	0.45148	1.513000	0.35823	2.232000	0.73038	0.561000	0.74099	CGT		0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		6	64	0	0	0	0	6	64				
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:22155346T>C	ENST00000397126.4	-	4	2638	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	830					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(2188-2190)GAA>GAG		zinc finger protein 208							66.0	72.0	70.0					19																	22155346		2117	4255	6372	SO:0001819	synonymous_variant	7757							g.chr19:22155346T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2490A>G	19.37:g.22155346T>C						ZNF208_uc002nqo.1_Intron	p.E730E	NM_007153	NP_009084					5	2339	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2190A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	115	0	0	0	0	3	115				
FXYD5	53827	broad.mit.edu	37	19	35660502	35660502	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:35660502G>T	ENST00000342879.3	+	8	1299	c.521G>T	c.(520-522)cGg>cTg	p.R174L	FXYD5_ENST00000392219.2_Missense_Mutation_p.R174L|FXYD5_ENST00000423817.3_Missense_Mutation_p.R174L|FXYD5_ENST00000588699.1_3'UTR|FXYD5_ENST00000590686.1_Missense_Mutation_p.R174L|FXYD5_ENST00000392217.3_Missense_Mutation_p.R103L|FXYD5_ENST00000541435.2_Missense_Mutation_p.R174L|FXYD5_ENST00000591716.2_3'UTR			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	174					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTTATGCCGGAATCGTTGC	0.562																																						uc002nyg.1		NA																	0					0						c.(520-522)CGG>CTG		FXYD domain-containing ion transport regulator 5							84.0	74.0	77.0					19																	35660502		2203	4300	6503	SO:0001583	missense	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35660502G>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.521G>T	19.37:g.35660502G>T	ENSP00000344254:p.Arg174Leu					FXYD5_uc002nyh.1_Missense_Mutation_p.R174L|FXYD5_uc002nyi.1_Missense_Mutation_p.R111L|FXYD5_uc002nyj.1_RNA	p.R174L	NM_014164	NP_054883	Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		9	607	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		174			Cytoplasmic (Potential).		B7WNZ8|Q6UW44|Q9HC34|Q9P039	Missense_Mutation	SNP	ENST00000342879.3	37	c.521G>T	CCDS12447.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261863	0.23051	.	.	ENSG00000089327	ENST00000392219;ENST00000541435;ENST00000342879;ENST00000423817;ENST00000392217	T;T;T;T;T	0.61158	0.69;0.69;0.69;0.69;0.13	4.22	2.03	0.26663	.	0.182517	0.32503	N	0.006006	T	0.35856	0.0946	N	0.17474	0.49	0.31063	N	0.713866	B;P	0.37663	0.376;0.604	B;B	0.40659	0.078;0.336	T	0.29488	-1.0010	10	0.17832	T	0.49	-7.0938	4.8843	0.13696	0.1101:0.0:0.6703:0.2196	.	103;174	Q96DB9-2;Q96DB9	.;FXYD5_HUMAN	L	174;174;174;174;103	ENSP00000376053:R174L;ENSP00000443390:R174L;ENSP00000344254:R174L;ENSP00000393848:R174L;ENSP00000376051:R103L	ENSP00000344254:R174L	R	+	2	0	FXYD5	40352342	0.986000	0.35501	0.882000	0.34594	0.092000	0.18411	0.561000	0.23515	0.667000	0.31107	0.563000	0.77884	CGG		0.562	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		6	33	1	0	1.07e-07	1.2e-06	6	33				
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:53855452A>G	ENST00000595091.1	+	5	1743	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000458035.1_Silent_p.S508S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388																																						uc010ydv.1		NA																	0					0						c.(1522-1524)TCA>TCG		zinc finger protein 845							22.0	21.0	21.0					19																	53855452		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855452A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1524A>G	19.37:g.53855452A>G						ZNF845_uc010ydw.1_Silent_p.S508S	p.S508S	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1641	+			508			C2H2-type 11.			Silent	SNP	ENST00000595091.1	37	c.1524A>G	CCDS46170.1																																																																																				0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	65	0	0	0	0	4	65				
LILRB2	10288	broad.mit.edu	37	19	54783667	54783667	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:54783667G>A	ENST00000391749.4	-	4	605	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	LILRB2_ENST00000391746.1_Missense_Mutation_p.P112S|LILRB2_ENST00000391748.1_Missense_Mutation_p.P112S|LILRB2_ENST00000314446.5_Missense_Mutation_p.P112S|LILRB2_ENST00000434421.1_5'UTR|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	112	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCACCAGGGGGTCACTGAGC	0.607																																						uc002qfb.2		NA																	0				skin(1)	1						c.(334-336)CCC>TCC		leukocyte immunoglobulin-like receptor,							98.0	98.0	98.0					19																	54783667		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783667G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.334C>T	19.37:g.54783667G>A	ENSP00000375629:p.Pro112Ser					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P112S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P112S|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA	p.P112S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	600	-	Ovarian(34;0.19)		112			Extracellular (Potential).|Ig-like C2-type 2.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.334C>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463179	0.43736	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	2.41	1.12	0.20585	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.576672	0.15751	N	0.246434	T	0.33904	0.0879	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.967	D;D;P	0.85130	0.997;0.955;0.652	T	0.05784	-1.0864	10	0.72032	D	0.01	.	6.3798	0.21527	0.0:0.0:0.5962:0.4038	.	112;129;112	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	S	112	ENSP00000375628:P112S;ENSP00000319960:P112S;ENSP00000375629:P112S;ENSP00000375626:P112S	ENSP00000319960:P112S	P	-	1	0	LILRB2	59475479	0.001000	0.12720	0.464000	0.27143	0.020000	0.10135	-0.866000	0.04245	0.139000	0.18822	0.289000	0.19496	CCC		0.607	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			5	76	0	0	0	0	5	76				
C2orf16	84226	broad.mit.edu	37	2	27801709	27801709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:27801709G>A	ENST00000408964.2	+	1	2321	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	757						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGGGATTCTGGGATACAGGAA	0.418																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(2269-2271)GGG>GAG		hypothetical protein LOC84226							118.0	116.0	116.0					2																	27801709		1830	4086	5916	SO:0001583	missense	84226							g.chr2:27801709G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2270G>A	2.37:g.27801709G>A	ENSP00000386190:p.Gly757Glu						p.G757E	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	2321	+	Acute lymphoblastic leukemia(172;0.155)		757					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2270G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.241907	0.00274	.	.	ENSG00000221843	ENST00000408964	T	0.04049	3.72	5.66	-0.529	0.11901	.	.	.	.	.	T	0.01627	0.0052	N	0.03608	-0.345	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.46735	-0.9170	9	0.02654	T	1	.	4.2708	0.10785	0.4436:0.0:0.3972:0.1592	.	757	Q68DN1	CB016_HUMAN	E	757	ENSP00000386190:G757E	ENSP00000386190:G757E	G	+	2	0	C2orf16	27655213	0.035000	0.19736	0.000000	0.03702	0.007000	0.05969	0.076000	0.14712	-0.056000	0.13221	-0.258000	0.10820	GGG		0.418	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		11	144	0	0	0	0	11	144				
NMS	129521	broad.mit.edu	37	2	101097598	101097598	+	Missense_Mutation	SNP	C	C	T	rs200077599		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:101097598C>T	ENST00000376865.1	+	8	390	c.383C>T	c.(382-384)gCg>gTg	p.A128V		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	128					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GATCACACTGCGACCTGGGGA	0.418																																						uc002tan.1		NA																	0				ovary(1)	1						c.(382-384)GCG>GTG		neuromedin S precursor		C	VAL/ALA	0,4406		0,0,2203	274.0	261.0	265.0		383	1.9	0.0	2		265	2,8598	2.2+/-6.3	0,2,4298	no	missense	NMS	NM_001011717.1	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	128/154	101097598	2,13004	2203	4300	6503	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101097598C>T	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.383C>T	2.37:g.101097598C>T	ENSP00000366061:p.Ala128Val						p.A128V	NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN			8	390	+			128						Missense_Mutation	SNP	ENST00000376865.1	37	c.383C>T	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039538	0.19669	0.0	2.33E-4	ENSG00000204640	ENST00000376865	T	0.23552	1.9	4.93	1.85	0.25348	.	0.303615	0.25810	N	0.028148	T	0.14485	0.0350	L	0.29908	0.895	0.09310	N	1	B	0.28178	0.202	B	0.24848	0.056	T	0.13019	-1.0525	10	0.42905	T	0.14	-0.978	4.2198	0.10552	0.0:0.5948:0.1887:0.2165	.	128	Q5H8A3	NMS_HUMAN	V	128	ENSP00000366061:A128V	ENSP00000366061:A128V	A	+	2	0	NMS	100464030	0.811000	0.29063	0.023000	0.16930	0.236000	0.25371	1.475000	0.35409	0.729000	0.32403	0.655000	0.94253	GCG		0.418	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		9	142	0	0	0	0	9	142				
SCN9A	6335	broad.mit.edu	37	2	167142859	167142859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:167142859G>A	ENST00000409435.1	-	10	1588	c.1589C>T	c.(1588-1590)tCt>tTt	p.S530F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S530F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S531F|SCN9A_ENST00000303354.6_Missense_Mutation_p.S531F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	530					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTGGGGGTAGACAACCTCTT	0.448																																						uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(1588-1590)TCT>TTT		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						256.0	238.0	243.0					2																	167142859		1913	4135	6048	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142859G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1589C>T	2.37:g.167142859G>A	ENSP00000386330:p.Ser530Phe					uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S401F|SCN9A_uc002uds.1_Missense_Mutation_p.S401F|SCN9A_uc002udt.1_Missense_Mutation_p.S401F	p.S530F	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			11	1930	-			530					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1589C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565753	0.45694	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96459	-3.99;-4.02;-4.02;-4.02;-3.98;-4.01	5.76	4.85	0.62838	Domain of unknown function DUF3451 (1);	1.989690	0.02646	N	0.105844	D	0.98163	0.9393	M	0.87547	2.89	0.46061	D	0.99884	B;P;P	0.51057	0.032;0.932;0.941	B;P;P	0.58013	0.02;0.831;0.789	D	0.92875	0.6318	10	0.72032	D	0.01	.	10.5037	0.44821	0.0693:0.0:0.7965:0.1341	.	530;530;531	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	F	530;531;531;530;395;395	ENSP00000386306:S530F;ENSP00000364536:S531F;ENSP00000304748:S531F;ENSP00000386330:S530F;ENSP00000413212:S395F;ENSP00000393141:S395F	ENSP00000304748:S531F	S	-	2	0	SCN9A	166851105	1.000000	0.71417	0.996000	0.52242	0.153000	0.21895	6.404000	0.73268	2.725000	0.93324	0.585000	0.79938	TCT		0.448	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		23	277	0	0	0	0	23	277				
CASP10	843	broad.mit.edu	37	2	202093772	202093772	+	Missense_Mutation	SNP	G	G	A	rs151011448		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:202093772G>A	ENST00000272879.5	+	10	1716	c.1532G>A	c.(1531-1533)cGa>cAa	p.R511Q	CASP10_ENST00000448480.1_Missense_Mutation_p.R468Q	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	511					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CAGACACCTCGACCCCCCATG	0.567																																						uc002uxl.1		NA																	0				skin(3)|ovary(1)|pancreas(1)|breast(1)	6						c.(1531-1533)CGA>CAA		caspase 10 isoform b preproprotein		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	145.0	129.0	135.0		1403,1532	-1.0	0.0	2	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CASP10	NM_001206542.1,NM_032974.4	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	468/479,511/522	202093772	1,13005	2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202093772G>A	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1532G>A	2.37:g.202093772G>A	ENSP00000272879:p.Arg511Gln					CASP10_uc002uxm.1_Missense_Mutation_p.R468Q	p.R511Q	NM_032974	NP_116756	Q92851	CASPA_HUMAN			10	1950	+			511					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1532G>A	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	5.350	0.249793	0.10130	0.0	1.16E-4	ENSG00000003400	ENST00000272879;ENST00000448480	T;T	0.02579	4.3;4.24	2.23	-1.03	0.10102	Peptidase C14, caspase precursor p45, core (1);	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.09310	N	0.999999	B;B	0.15719	0.014;0.008	B;B	0.04013	0.001;0.001	T	0.49051	-0.8979	9	0.13470	T	0.59	.	2.7292	0.05222	0.3638:0.2533:0.3829:0.0	.	468;511	Q92851-5;Q92851	.;CASPA_HUMAN	Q	511;468	ENSP00000272879:R511Q;ENSP00000396835:R468Q	ENSP00000272879:R511Q	R	+	2	0	CASP10	201802017	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.902000	0.01596	-0.297000	0.08934	-0.136000	0.14681	CGA		0.567	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		11	147	0	0	0	0	11	147				
SULF2	55959	broad.mit.edu	37	20	46291926	46291926	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr20:46291926T>C	ENST00000359930.4	-	17	3109	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	SULF2_ENST00000484875.1_Missense_Mutation_p.N753S|SULF2_ENST00000361612.4_Missense_Mutation_p.N753S|SULF2_ENST00000467815.1_Missense_Mutation_p.N753S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	753					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGTGTTATTGTTGGCGCTGGT	0.517											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xto.2		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(2257-2259)AAC>AGC		sulfatase 2 isoform a precursor							139.0	124.0	129.0					20																	46291926		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46291926T>C	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2258A>G	20.37:g.46291926T>C	ENSP00000353007:p.Asn753Ser		OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SULF2_uc002xtr.2_Missense_Mutation_p.N753S|SULF2_uc002xtq.2_Missense_Mutation_p.N753S|SULF2_uc010zyd.1_Missense_Mutation_p.N32S	p.N753S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			17	2588	-			753					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.2258A>G	CCDS13408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.333174|4.333174	0.81801|0.81801	.|.	.|.	ENSG00000196562|ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815|ENST00000495544	T;T;T;T|.	0.14391|.	2.51;2.51;2.51;2.51|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73225|0.73225	0.3560|0.3560	M|M	0.69463|0.69463	2.115|2.115	0.49130|0.49130	D|D	0.999751|0.999751	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.87578|.	0.998;0.99|.	T|T	0.72792|0.72792	-0.4186|-0.4186	10|5	0.62326|.	D|.	0.03|.	-29.3521|-29.3521	15.9538|15.9538	0.79865|0.79865	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	753;753|.	Q8IWU5-2;Q8IWU5|.	.;SULF2_HUMAN|.	S|A	753;753;753;172;753|108	ENSP00000353007:N753S;ENSP00000418290:N753S;ENSP00000354662:N753S;ENSP00000418442:N753S|.	ENSP00000353007:N753S|.	N|T	-|-	2|1	0|0	SULF2|SULF2	45725333|45725333	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.289000|6.289000	0.72696|0.72696	2.185000|2.185000	0.69588|0.69588	0.454000|0.454000	0.30748|0.30748	AAC|ACA		0.517	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		3	53	0	0	0	0	3	53				
MRPL39	54148	broad.mit.edu	37	21	26961175	26961175	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr21:26961175T>C	ENST00000352957.4	-	9	982	c.941A>G	c.(940-942)gAt>gGt	p.D314G	MRPL39_ENST00000307301.7_Missense_Mutation_p.D314G	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	314						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CAATAGCTTATCCCATATTGT	0.303																																						uc002ylo.2		NA																	0					0						c.(940-942)GAT>GGT		mitochondrial ribosomal protein L39 isoform a							123.0	134.0	131.0					21																	26961175		2203	4299	6502	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26961175T>C	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.941A>G	21.37:g.26961175T>C	ENSP00000284967:p.Asp314Gly					MRPL39_uc002yln.2_Missense_Mutation_p.D314G	p.D314G	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN			9	955	-			314					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.941A>G	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	T	1.100	-0.661416	0.03454	.	.	ENSG00000154719	ENST00000352957;ENST00000307301	T;T	0.44482	0.93;0.92	5.04	1.16	0.20824	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.659654	0.16571	N	0.208649	T	0.19846	0.0477	N	0.08118	0	0.24148	N	0.995707	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.15665	-1.0429	10	0.35671	T	0.21	-0.9577	7.0383	0.25004	0.0:0.0761:0.2809:0.643	.	314;314	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	G	314	ENSP00000284967:D314G;ENSP00000305682:D314G	ENSP00000305682:D314G	D	-	2	0	MRPL39	25883046	0.699000	0.27786	0.457000	0.27056	0.992000	0.81027	0.689000	0.25437	0.100000	0.17581	0.533000	0.62120	GAT		0.303	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		14	226	0	0	0	0	14	226				
TSPEAR	54084	broad.mit.edu	37	21	45948404	45948404	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr21:45948404A>G	ENST00000323084.4	-	6	918	c.853T>C	c.(853-855)Ttc>Ctc	p.F285L	TSPEAR_ENST00000397916.1_Missense_Mutation_p.F217L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	285					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TCAAACCAGAACTGGGCGTCT	0.602																																						uc002zfe.1		NA																	0					0						c.(853-855)TTC>CTC		chromosome 21 open reading frame 29 precursor							144.0	121.0	129.0					21																	45948404		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948404A>G	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.853T>C	21.37:g.45948404A>G	ENSP00000321987:p.Phe285Leu					C21orf29_uc010gpv.1_Missense_Mutation_p.F217L	p.F285L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			6	919	-			285						Missense_Mutation	SNP	ENST00000323084.4	37	c.853T>C	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	A	9.931	1.214822	0.22373	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.42900	0.96;0.96	5.15	5.15	0.70609	.	0.053600	0.85682	D	0.000000	T	0.33352	0.0860	L	0.42581	1.335	0.49582	D	0.999803	B	0.06786	0.001	B	0.08055	0.003	T	0.15549	-1.0433	10	0.07482	T	0.82	-14.8087	14.9882	0.71365	1.0:0.0:0.0:0.0	.	285	Q8WU66	TSEAR_HUMAN	L	285;138;217;285	ENSP00000321987:F285L;ENSP00000381012:F217L	ENSP00000321987:F285L	F	-	1	0	TSPEAR	44772832	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	4.085000	0.57657	1.943000	0.56356	0.459000	0.35465	TTC		0.602	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		13	66	0	0	0	0	13	66				
CADPS	8618	broad.mit.edu	37	3	62578331	62578331	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:62578331T>C	ENST00000383710.4	-	7	1767	c.1418A>G	c.(1417-1419)gAg>gGg	p.E473G	CADPS_ENST00000357948.3_Missense_Mutation_p.E473G|CADPS_ENST00000283269.9_Missense_Mutation_p.E473G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	473	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCCTTGTCCTCCAACGCCAG	0.582																																						uc003dll.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1417-1419)GAG>GGG		Ca2+-dependent secretion activator isoform 1							153.0	134.0	141.0					3																	62578331		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62578331T>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1418A>G	3.37:g.62578331T>C	ENSP00000373215:p.Glu473Gly					CADPS_uc003dlm.2_Missense_Mutation_p.E473G|CADPS_uc003dln.2_Missense_Mutation_p.E473G	p.E473G	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	7	1778	-		Lung SC(41;0.0452)	473			C2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1418A>G	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.590259	0.86851	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.58358	0.35;0.34;0.34	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.998;0.989;0.999	D;D;D	0.75484	0.967;0.979;0.986	T	0.75385	-0.3336	10	0.87932	D	0	.	15.7244	0.77743	0.0:0.0:0.0:1.0	.	473;473;473	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	G	473	ENSP00000373215:E473G;ENSP00000350632:E473G;ENSP00000283269:E473G	ENSP00000283269:E473G	E	-	2	0	CADPS	62553371	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.880000	0.87243	2.171000	0.68590	0.533000	0.62120	GAG		0.582	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		3	86	0	0	0	0	3	86				
ADAMTS9	56999	broad.mit.edu	37	3	64582598	64582598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:64582598C>T	ENST00000498707.1	-	27	4429	c.4087G>A	c.(4087-4089)Gca>Aca	p.A1363T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1335T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1363	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGTCGTTTGCGGTGTATCCA	0.507																																						uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(4087-4089)GCA>ACA		ADAM metallopeptidase with thrombospondin type 1							117.0	100.0	105.0					3																	64582598		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64582598C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4087G>A	3.37:g.64582598C>T	ENSP00000418735:p.Ala1363Thr					ADAMTS9_uc011bfo.1_Missense_Mutation_p.A1335T|ADAMTS9_uc003dmh.1_Missense_Mutation_p.A1192T|ADAMTS9_uc011bfp.1_Missense_Mutation_p.A274T	p.A1363T	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	27	4119	-		Lung NSC(201;0.00682)	1363			TSP type-1 9.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4087G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299776	0.81136	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.60672	0.17;0.17	5.4	4.51	0.55191	.	0.130314	0.51477	D	0.000081	T	0.72179	0.3428	M	0.70787	2.145	0.80722	D	1	D;D;P	0.76494	0.987;0.999;0.867	P;D;B	0.63381	0.763;0.914;0.305	T	0.74312	-0.3706	10	0.45353	T	0.12	.	15.4145	0.74956	0.1401:0.8599:0.0:0.0	.	1335;1363;1363	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	T	1335;1363	ENSP00000295903:A1335T;ENSP00000418735:A1363T	ENSP00000295903:A1335T	A	-	1	0	ADAMTS9	64557638	1.000000	0.71417	0.061000	0.19648	0.757000	0.42996	5.525000	0.67110	1.475000	0.48197	0.591000	0.81541	GCA		0.507	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			12	69	0	0	0	0	12	69				
CNTN3	5067	broad.mit.edu	37	3	74350658	74350658	+	Silent	SNP	T	T	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:74350658T>A	ENST00000263665.6	-	15	2013	c.1986A>T	c.(1984-1986)gtA>gtT	p.V662V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	662	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTAACTCAACTACAGTGGCTG	0.433																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(1984-1986)GTA>GTT		contactin 3 precursor							129.0	124.0	125.0					3																	74350658		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350658T>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1986A>T	3.37:g.74350658T>A							p.V662V	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	15	2066	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	662			Fibronectin type-III 1.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1986A>T	CCDS33790.1																																																																																				0.433	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		8	76	0	0	0	0	8	76				
TRH	7200	broad.mit.edu	37	3	129695951	129695951	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:129695951C>T	ENST00000302649.3	+	3	1148	c.621C>T	c.(619-621)ggC>ggT	p.G207G	TRH_ENST00000507066.1_Silent_p.G203G	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	207					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GTCAAGCGGGCCTTCTGCTGG	0.657																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2		NA																	0				ovary(1)	1						c.(619-621)GGC>GGT		thyrotropin-releasing hormone							24.0	27.0	26.0					3																	129695951		2202	4297	6499	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695951C>T		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.621C>T	3.37:g.129695951C>T							p.G207G	NM_007117	NP_009048	P20396	TRH_HUMAN			3	1182	+			207					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.621C>T	CCDS3066.1																																																																																				0.657	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		6	37	0	0	0	0	6	37				
COL6A6	131873	broad.mit.edu	37	3	130281957	130281957	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:130281957G>A	ENST00000358511.6	+	2	141	c.110G>A	c.(109-111)cGc>cAc	p.R37H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R37H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	37	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCTCTGATCGCCTGGGATCC	0.458																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(109-111)CGC>CAC		collagen type VI alpha 6 precursor							180.0	172.0	174.0					3																	130281957		1942	4139	6081	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130281957G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.110G>A	3.37:g.130281957G>A	ENSP00000351310:p.Arg37His						p.R37H	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	141	+			37			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.110G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.472586	0.01044	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83335	-1.71;-1.71	5.66	4.42	0.53409	von Willebrand factor, type A (3);	0.400717	0.24102	N	0.041532	T	0.50205	0.1602	N	0.01146	-0.985	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41840	-0.9486	10	0.09590	T	0.72	.	1.567	0.02606	0.5632:0.1438:0.1548:0.1382	.	37	A6NMZ7	CO6A6_HUMAN	H	37	ENSP00000351310:R37H;ENSP00000399236:R37H	ENSP00000351310:R37H	R	+	2	0	COL6A6	131764647	0.007000	0.16637	0.988000	0.46212	0.435000	0.31806	1.442000	0.35046	0.963000	0.38082	-0.459000	0.05422	CGC		0.458	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		14	180	0	0	0	0	14	180				
COPB2	9276	broad.mit.edu	37	3	139078167	139078167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:139078167G>A	ENST00000333188.5	-	18	2429	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	COPB2_ENST00000507777.1_Missense_Mutation_p.R721W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	750					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCTGGCAGCCGTCCAGTTCTA	0.393																																						uc003etf.3		NA																	0				ovary(2)	2						c.(2248-2250)CGG>TGG		coatomer protein complex, subunit beta 2 (beta							82.0	88.0	86.0					3																	139078167		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139078167G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2248C>T	3.37:g.139078167G>A	ENSP00000329419:p.Arg750Trp					COPB2_uc011bmv.1_Missense_Mutation_p.R721W|COPB2_uc010hui.2_Missense_Mutation_p.R721W	p.R750W	NM_004766	NP_004757	P35606	COPB2_HUMAN			18	2378	-			750			WD 9.		B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.2248C>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895224	0.72639	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.68181	-0.31;-0.21	5.32	4.41	0.53225	Coatomer, WD associated region (1);	0.110972	0.64402	D	0.000008	D	0.86744	0.6006	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90234	0.4281	10	0.87932	D	0	-8.6262	13.3213	0.60434	0.0:0.0:0.8416:0.1584	.	750	P35606	COPB2_HUMAN	W	750;721	ENSP00000329419:R750W;ENSP00000422295:R721W	ENSP00000329419:R750W	R	-	1	2	COPB2	140560857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.126000	0.64721	1.179000	0.42884	0.557000	0.71058	CGG		0.393	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		15	113	0	0	0	0	15	113				
GFM1	85476	broad.mit.edu	37	3	158402350	158402350	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:158402350G>C	ENST00000486715.1	+	15	2159	c.1802G>C	c.(1801-1803)gGt>gCt	p.G601A	GFM1_ENST00000264263.5_Missense_Mutation_p.G620A	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCTCTTTCTGGTCACAAGCTC	0.458																																						uc003fce.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1801-1803)GGT>GCT		G elongation factor, mitochondrial 1 precursor							88.0	86.0	87.0					3																	158402350		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158402350G>C	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1802G>C	3.37:g.158402350G>C	ENSP00000419038:p.Gly601Ala					GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.G532A	p.G601A	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		15	1909	+			601						Missense_Mutation	SNP	ENST00000486715.1	37	c.1802G>C	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835374	0.91117	.	.	ENSG00000168827	ENST00000486715;ENST00000264263	T;T	0.56611	0.45;0.45	5.37	5.37	0.77165	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.80315	-0.1434	10	0.72032	D	0.01	-9.8158	19.472	0.94966	0.0:0.0:1.0:0.0	.	620;601	Q96RP9-2;Q96RP9	.;EFGM_HUMAN	A	601;620	ENSP00000419038:G601A;ENSP00000264263:G620A	ENSP00000264263:G620A	G	+	2	0	GFM1	159885044	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.420000	0.97426	2.665000	0.90641	0.591000	0.81541	GGT		0.458	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		11	80	0	0	0	0	11	80				
KIAA0226	9711	broad.mit.edu	37	3	197402348	197402348	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:197402348C>T	ENST00000296343.5	-	19	2684	c.2685G>A	c.(2683-2685)caG>caA	p.Q895Q	KIAA0226_ENST00000273582.5_Silent_p.Q850Q|MIR922_ENST00000401223.1_RNA	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	895	Cys-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATCCTCATTCTGACAGAACT	0.547																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NA																	0					0						c.(2683-2685)CAG>CAA		hypothetical protein LOC9711 isoform 2.							160.0	156.0	157.0					3																	197402348		2018	4197	6215	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197402348C>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2685G>A	3.37:g.197402348C>T						KIAA0226_uc003fyd.3_Silent_p.Q850Q|MIR922_hsa-mir-922|MI0005714_5'Flank	p.Q895Q	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	19	2868	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		895			Cys-rich.		Q96CK5	Silent	SNP	ENST00000296343.5	37	c.2685G>A	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	C	8.286	0.816571	0.16607	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.51	2.79	0.32731	.	.	.	.	.	T	0.60856	0.2301	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54860	-0.8230	4	.	.	.	.	10.7092	0.45973	0.0:0.7942:0.0:0.2058	.	.	.	.	K	857	.	.	E	-	1	0	KIAA0226	198886745	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.264000	0.33015	0.311000	0.23014	-0.918000	0.02743	GAA		0.547	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		21	188	0	0	0	0	21	188				
SORBS2	8470	broad.mit.edu	37	4	186545502	186545502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:186545502C>T	ENST00000284776.7	-	13	1578	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	SORBS2_ENST00000431808.1_Missense_Mutation_p.G357S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.G261S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.G457S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	357					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.G357S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTTGCCAGCCGTTCTTGAAA	0.517																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(1069-1071)GGC>AGC		sorbin and SH3 domain containing 2 isoform 2							68.0	69.0	68.0					4																	186545502		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545502C>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1069G>A	4.37:g.186545502C>T	ENSP00000284776:p.Gly357Ser					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.G457S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.G261S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.G471S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.G357S	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	1927	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	357					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1069G>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168923	0.57584	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.35236	1.42;1.42;1.32;1.42	6.0	5.15	0.70609	.	0.093857	0.85682	D	0.000000	T	0.54464	0.1860	L	0.46157	1.445	0.48632	D	0.999683	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.55636	-0.8110	10	0.52906	T	0.07	-34.8893	16.6709	0.85266	0.1309:0.8691:0.0:0.0	.	261;457;357	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	357;357;261;457	ENSP00000284776:G357S;ENSP00000411764:G357S;ENSP00000397482:G261S;ENSP00000347852:G457S	ENSP00000284776:G357S	G	-	1	0	SORBS2	186782496	1.000000	0.71417	0.911000	0.35937	0.685000	0.39939	5.563000	0.67352	1.539000	0.49286	0.558000	0.71614	GGC		0.517	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	71	0	0	0	0	5	71				
FYB	2533	broad.mit.edu	37	5	39134377	39134377	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:39134377G>T	ENST00000351578.6	-	9	1940	c.1750C>A	c.(1750-1752)Cct>Act	p.P584T	FYB_ENST00000515010.1_Missense_Mutation_p.P584T|FYB_ENST00000540520.1_Missense_Mutation_p.P594T|FYB_ENST00000505428.1_Missense_Mutation_p.P584T|FYB_ENST00000512982.1_Missense_Mutation_p.P584T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	584					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGTCTTGAAGGGGCACCAAGA	0.358																																						uc003jls.2		NA																	0		p.P584L(1)		ovary(2)	2						c.(1750-1752)CCT>ACT		FYN binding protein (FYB-120/130) isoform 2							173.0	172.0	172.0					5																	39134377		1854	4104	5958	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39134377G>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1750C>A	5.37:g.39134377G>T	ENSP00000316460:p.Pro584Thr					FYB_uc003jlt.2_Missense_Mutation_p.P584T|FYB_uc003jlu.2_Missense_Mutation_p.P584T|FYB_uc011cpl.1_Missense_Mutation_p.P594T	p.P584T	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		8	1817	-	all_lung(31;0.000343)		584					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1750C>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	0.414	-0.911760	0.02434	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.26067	1.79;1.79;1.76;1.76;1.77	5.93	-0.696	0.11287	.	1.749730	0.02482	N	0.088621	T	0.10981	0.0268	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.23762	-1.0179	10	0.08837	T	0.75	-0.8458	7.3802	0.26851	0.0638:0.4319:0.3507:0.1536	.	594;584	B4DLN2;O15117	.;FYB_HUMAN	T	584;584;584;584;594;584	ENSP00000316460:P584T;ENSP00000426346:P584T;ENSP00000425845:P584T;ENSP00000427114:P584T;ENSP00000442840:P594T	ENSP00000316460:P584T	P	-	1	0	FYB	39170134	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.733000	0.01850	-0.120000	0.11809	-0.150000	0.13652	CCT		0.358	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		20	142	1	0	2.28e-05	0.000251211	20	142				
SPATA9	83890	broad.mit.edu	37	5	95018550	95018550	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:95018550G>C	ENST00000274432.8	-	1	150	c.9C>G	c.(7-9)atC>atG	p.I3M	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.I3M|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	3					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CAACAGGTTTGATTGGCATGG	0.463																																						uc003klj.1		NA																	0					0						c.(7-9)ATC>ATG		spermatogenesis associated 9							149.0	143.0	145.0					5																	95018550		2203	4300	6503	SO:0001583	missense	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:95018550G>C	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.9C>G	5.37:g.95018550G>C	ENSP00000274432:p.Ile3Met					SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	p.I3M	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	1	165	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	3					A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	c.9C>G	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523189	0.44866	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.54071	0.59	4.8	1.96	0.26148	.	0.144113	0.31834	N	0.006987	T	0.34048	0.0884	N	0.19112	0.55	0.23537	N	0.997461	B	0.15141	0.012	B	0.18263	0.021	T	0.27502	-1.0072	10	0.72032	D	0.01	-2.1203	7.4451	0.27207	0.0:0.1653:0.4929:0.3418	.	3	Q9BWV2	SPAT9_HUMAN	M	3	ENSP00000274432:I3M	ENSP00000274432:I3M	I	-	3	3	SPATA9	95044306	0.990000	0.36364	0.831000	0.32960	0.923000	0.55619	1.148000	0.31614	0.211000	0.20683	-0.302000	0.09304	ATC		0.463	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		7	60	0	0	0	0	7	60				
C5orf30	90355	broad.mit.edu	37	5	102612013	102612013	+	Silent	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:102612013A>G	ENST00000319933.2	+	3	701	c.393A>G	c.(391-393)ccA>ccG	p.P131P	C5orf30_ENST00000510890.1_Silent_p.P131P|C5orf30_ENST00000515669.1_Silent_p.P131P	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	131					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		GGCGGATGCCAAGCTCAGGAG	0.498																																						uc003kog.1		NA																	0					0						c.(391-393)CCA>CCG		hypothetical protein LOC90355							63.0	65.0	64.0					5																	102612013		2203	4300	6503	SO:0001819	synonymous_variant	90355							g.chr5:102612013A>G		CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.393A>G	5.37:g.102612013A>G						C5orf30_uc003koh.1_Silent_p.P131P	p.P131P	NM_033211	NP_149988	Q96GV9	CE030_HUMAN		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)	3	662	+		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)	131						Silent	SNP	ENST00000319933.2	37	c.393A>G	CCDS4095.1																																																																																				0.498	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211		3	46	0	0	0	0	3	46				
FAT2	2196	broad.mit.edu	37	5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:150924339G>A	ENST00000261800.5	-	9	6361	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2117*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCAATTCGGAAATATGTG	0.428																																						uc003lue.3		NA																	1	Substitution - Nonsense(1)		endometrium(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(6349-6351)CGA>TGA		FAT tumor suppressor 2 precursor							120.0	125.0	123.0					5																	150924339		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924339G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6349C>T	5.37:g.150924339G>A	ENSP00000261800:p.Arg2117*					GM2A_uc011dcs.1_Intron	p.R2117*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6362	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2117			Extracellular (Potential).|Cadherin 18.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.6349C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	46	12.437382	0.99667	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.63	4.57	0.56435	.	0.234724	0.30649	N	0.009163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.3985	0.26950	0.1313:0.0:0.6995:0.1692	.	.	.	.	X	2117	.	ENSP00000261800:R2117X	R	-	1	2	FAT2	150904532	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.740000	0.26188	2.658000	0.90341	0.561000	0.74099	CGA		0.428	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		10	114	0	0	0	0	10	114				
STK10	6793	broad.mit.edu	37	5	171520515	171520515	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:171520515C>T	ENST00000176763.5	-	9	1798	c.1455G>A	c.(1453-1455)tcG>tcA	p.S485S	STK10_ENST00000517775.1_5'UTR	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	485					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGCAGTCCGAGTCCCTCT	0.607																																						uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(1453-1455)TCG>TCA		serine/threonine kinase 10							81.0	86.0	84.0					5																	171520515		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171520515C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1455G>A	5.37:g.171520515C>T							p.S485S	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1755	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	485					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.1455G>A	CCDS34290.1																																																																																				0.607	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		13	134	0	0	0	0	13	134				
KIAA0319	9856	broad.mit.edu	37	6	24596202	24596202	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:24596202C>G	ENST00000378214.3	-	3	1224	c.700G>C	c.(700-702)Gtg>Ctg	p.V234L	KIAA0319_ENST00000430948.2_Missense_Mutation_p.V189L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.V234L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.V234L|KIAA0319_ENST00000535378.1_Missense_Mutation_p.V225L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	234					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGAAGCAACACACTTCTCTCA	0.542																																						uc011djo.1		NA																	0				ovary(1)|skin(1)	2						c.(700-702)GTG>CTG		KIAA0319 precursor							71.0	68.0	69.0					6																	24596202		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596202C>G	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.700G>C	6.37:g.24596202C>G	ENSP00000367459:p.Val234Leu					KIAA0319_uc011djp.1_Missense_Mutation_p.V189L|KIAA0319_uc003neh.1_Missense_Mutation_p.V234L|KIAA0319_uc011djq.1_Missense_Mutation_p.V225L|KIAA0319_uc011djr.1_Missense_Mutation_p.V234L	p.V234L	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			3	937	-			234			Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.700G>C	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	8.434	0.849344	0.17034	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06218	3.33;3.33;3.33;3.34;3.34	3.98	-5.78	0.02362	.	1.134570	0.06921	N	0.809442	T	0.00496	0.0016	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.48293	-0.9048	10	0.09590	T	0.72	0.0255	2.0656	0.03602	0.1991:0.3812:0.286:0.1337	.	234;225;234	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	L	234;225;189;234;234	ENSP00000439700:V234L;ENSP00000442403:V225L;ENSP00000401086:V189L;ENSP00000367459:V234L;ENSP00000437656:V234L	ENSP00000367459:V234L	V	-	1	0	KIAA0319	24704181	0.000000	0.05858	0.000000	0.03702	0.788000	0.44548	-1.088000	0.03379	-1.551000	0.01706	-0.347000	0.07816	GTG		0.542	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		3	69	0	0	0	0	3	69				
TNXB	7148	broad.mit.edu	37	6	32032668	32032668	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:32032668C>T	ENST00000375244.3	-	19	6972	c.6771G>A	c.(6769-6771)aaG>aaA	p.K2257K	TNXB_ENST00000375247.2_Silent_p.K2257K			P22105	TENX_HUMAN	tenascin XB	2329	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCATCTTGTACTTGTGGTCTG	0.627																																						uc003nzl.2		NA																	0					0						c.(6769-6771)AAG>AAA		tenascin XB isoform 1 precursor							57.0	63.0	61.0					6																	32032668		1267	2546	3813	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32032668C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6771G>A	6.37:g.32032668C>T							p.K2257K	NM_019105	NP_061978	P22105	TENX_HUMAN			19	6973	-			2329			Fibronectin type-III 15.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.6771G>A																																																																																					0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	38	0	0	0	0	4	38				
PKHD1	5314	broad.mit.edu	37	6	51920457	51920457	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:51920457G>A	ENST00000371117.3	-	19	2039	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	PKHD1_ENST00000340994.4_Silent_p.L588L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	588					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGCTGACGGAGGCTGAACC	0.552																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(1762-1764)CTC>CTT		fibrocystin isoform 1							64.0	60.0	61.0					6																	51920457		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51920457G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1764C>T	6.37:g.51920457G>A						PKHD1_uc003pai.2_Silent_p.L588L	p.L588L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			19	2040	-	Lung NSC(77;0.0605)		588			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.1764C>T	CCDS4935.1																																																																																				0.552	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	49	0	0	0	0	4	49				
CEP85L	387119	broad.mit.edu	37	6	118812962	118812962	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:118812962C>G	ENST00000368491.3	-	6	1945	c.1324G>C	c.(1324-1326)Ggg>Cgg	p.G442R	CEP85L_ENST00000368488.5_Missense_Mutation_p.G445R|CEP85L_ENST00000360290.3_Missense_Mutation_p.G340R|CEP85L_ENST00000392500.3_Missense_Mutation_p.G445R|CEP85L_ENST00000419517.2_Missense_Mutation_p.G442R	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	442						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TCAAATTCCCCTTGTTGGGAA	0.373																																						uc003pxz.1		NA																	0				breast(1)	1						c.(1324-1326)GGG>CGG		chromosome 6 open reading frame 204 isoform a							88.0	90.0	89.0					6																	118812962		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118812962C>G	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1324G>C	6.37:g.118812962C>G	ENSP00000357477:p.Gly442Arg					C6orf204_uc003pya.1_Missense_Mutation_p.G445R|C6orf204_uc003pyb.2_Missense_Mutation_p.G442R|C6orf204_uc011ebj.1_Missense_Mutation_p.G340R|C6orf204_uc003pyc.2_Missense_Mutation_p.G445R	p.G442R	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	6	1912	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	442			Potential.		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1324G>C	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135709	0.37728	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.22134	2.78;2.78;2.78;2.28;1.97;2.29	5.91	5.91	0.95273	.	0.220948	0.44483	D	0.000452	T	0.07234	0.0183	N	0.14661	0.345	0.26567	N	0.973637	P;P;B;B	0.42203	0.773;0.493;0.145;0.145	B;B;B;B	0.37304	0.246;0.165;0.054;0.033	T	0.13926	-1.0491	10	0.40728	T	0.16	-1.8833	19.0678	0.93119	0.0:1.0:0.0:0.0	.	445;442;445;442	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	R	442;445;445;445;340;442	ENSP00000357477:G442R;ENSP00000357474:G445R;ENSP00000392131:G445R;ENSP00000376288:G445R;ENSP00000353434:G340R;ENSP00000393317:G442R	ENSP00000353434:G340R	G	-	1	0	C6orf204	118919655	1.000000	0.71417	0.982000	0.44146	0.917000	0.54804	6.737000	0.74816	2.813000	0.96785	0.655000	0.94253	GGG		0.373	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		4	47	0	0	0	0	4	47				
LAMA2	3908	broad.mit.edu	37	6	129641784	129641784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:129641784C>T	ENST00000421865.2	+	28	4209	c.4160C>T	c.(4159-4161)tCt>tTt	p.S1387F		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1387	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGGCTATTCTGGCCTGTCC	0.443																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(4159-4161)TCT>TTT		laminin alpha 2 subunit isoform a precursor							139.0	130.0	133.0					6																	129641784		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129641784C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4160C>T	6.37:g.129641784C>T	ENSP00000400365:p.Ser1387Phe					LAMA2_uc003qbo.2_Missense_Mutation_p.S1387F	p.S1387F	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	28	4265	+			1387			Laminin EGF-like 14; second part.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4160C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166635	0.78339	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.62364	0.03	5.27	5.27	0.74061	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.81341	2.54	0.54753	D	0.999988	D;D	0.60575	0.988;0.957	P;P	0.59056	0.851;0.804	T	0.75402	-0.3330	10	0.66056	D	0.02	.	13.5531	0.61745	0.0:0.9249:0.0:0.0751	.	1387;1387	A6NF00;P24043	.;LAMA2_HUMAN	F	1387	ENSP00000400365:S1387F	ENSP00000346769:S1387F	S	+	2	0	LAMA2	129683477	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.511000	0.67024	2.628000	0.89032	0.563000	0.77884	TCT		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	31	0	0	0	0	4	31				
BBS9	27241	broad.mit.edu	37	7	33185888	33185888	+	Silent	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:33185888T>C	ENST00000242067.6	+	2	545	c.24T>C	c.(22-24)gaT>gaC	p.D8D	BBS9_ENST00000355070.2_Silent_p.D8D|BBS9_ENST00000354265.4_Silent_p.D8D|BBS9_ENST00000396127.2_Silent_p.D8D|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000350941.3_Silent_p.D8D|BBS9_ENST00000425508.2_5'UTR	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	8					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAGCCCGTGATTGGTGGTCTA	0.323									Bardet-Biedl syndrome																													uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(22-24)GAT>GAC		parathyroid hormone-responsive B1 isoform 2							144.0	140.0	141.0					7																	33185888		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33185888T>C		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.24T>C	7.37:g.33185888T>C						BBS9_uc003tdo.1_Silent_p.D8D|BBS9_uc003tdp.1_Silent_p.D8D|BBS9_uc003tdq.1_Silent_p.D8D|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Silent_p.D8D	p.D8D	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		2	537	+			8					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.24T>C	CCDS43566.1																																																																																				0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			7	56	0	0	0	0	7	56				
ADCY1	107	broad.mit.edu	37	7	45717468	45717468	+	Splice_Site	SNP	C	C	T	rs143601874	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:45717468C>T	ENST00000297323.7	+	9	1628	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	536					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R536W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATGGCTCCAGCGGAGGGCATT	0.502													C|||	3	0.000599042	0.0008	0.0	5008	,	,		16805	0.0		0.001	False		,,,				2504	0.001					uc003tne.3		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1606-1608)CGG>TGG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	84.0	79.0		1606	0.7	1.0	7	dbSNP_134	79	0,8600		0,0,4300	yes	missense-near-splice	ADCY1	NM_021116.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	536/1120	45717468	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45717468C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1606-1C>T	7.37:g.45717468C>T							p.R536W	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			9	1624	+			536			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1606C>T	CCDS34631.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.69	3.193180	0.58017	2.27E-4	0.0	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.80393	-1.37	5.24	0.67	0.17923	.	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	L	0.56769	1.78	0.58432	D	0.999992	B	0.22346	0.068	B	0.26614	0.071	T	0.66548	-0.5896	9	.	.	.	.	13.2373	0.59976	0.7359:0.264:0.0:0.0	.	536	Q08828	ADCY1_HUMAN	W	536	ENSP00000297323:R536W	.	R	+	1	2	ADCY1	45683993	1.000000	0.71417	0.984000	0.44739	0.764000	0.43329	1.932000	0.40143	0.180000	0.19960	-0.169000	0.13324	CGG		0.502	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	Missense_Mutation	11	82	0	0	0	0	11	82				
GSAP	54103	broad.mit.edu	37	7	76940734	76940734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:76940734C>T	ENST00000257626.7	-	31	2584	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N	GSAP_ENST00000440473.1_5'Flank|GSAP_ENST00000441833.2_Missense_Mutation_p.D157N	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	836					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										AATTCTGCATCCACATTGTCA	0.428																																						uc003ugf.2		NA																	0				central_nervous_system(1)	1						c.(2506-2508)GAT>AAT		pigeon homolog							99.0	93.0	95.0					7																	76940734		1880	4111	5991	SO:0001583	missense	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:76940734C>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2506G>A	7.37:g.76940734C>T	ENSP00000257626:p.Asp836Asn					PION_uc011kgo.1_Missense_Mutation_p.D157N|PION_uc003ugd.2_Missense_Mutation_p.D230N	p.D836N	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			31	2585	-			836					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.2506G>A	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054230	0.55218	.	.	ENSG00000186088	ENST00000257626;ENST00000441833	T	0.23348	1.91	5.53	5.53	0.82687	.	0.125624	0.51477	N	0.000082	T	0.25306	0.0615	L	0.41824	1.3	0.43029	D	0.994597	P	0.40619	0.724	B	0.40782	0.34	T	0.01363	-1.1374	10	0.34782	T	0.22	.	15.3089	0.74016	0.0:1.0:0.0:0.0	.	836	A4D1B5	GSAP_HUMAN	N	836;157	ENSP00000257626:D836N	ENSP00000257626:D836N	D	-	1	0	PION	76778670	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.765000	0.55272	2.750000	0.94351	0.655000	0.94253	GAT		0.428	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		5	53	0	0	0	0	5	53				
CFAP69	79846	broad.mit.edu	37	7	89915641	89915641	+	Silent	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:89915641C>G	ENST00000389297.4	+	14	1835	c.1584C>G	c.(1582-1584)gcC>gcG	p.A528A	C7orf63_ENST00000316089.8_Silent_p.A528A|C7orf63_ENST00000497910.1_Silent_p.A510A	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		528										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGGAAGAAGCCATTGTTTTGG	0.318																																						uc010lep.2		NA																	0				ovary(1)	1						c.(1582-1584)GCC>GCG		hypothetical protein LOC79846 isoform 1							114.0	109.0	111.0					7																	89915641		1816	4071	5887	SO:0001819	synonymous_variant	79846						binding	g.chr7:89915641C>G																												ENST00000389297.4:c.1584C>G	7.37:g.89915641C>G						C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Silent_p.A203A|C7orf63_uc011khj.1_Silent_p.A510A|C7orf63_uc011khk.1_Silent_p.A90A	p.A528A	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			14	1835	+			528					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	c.1584C>G	CCDS43613.2																																																																																				0.318	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			5	52	0	0	0	0	5	52				
SAMD9	54809	broad.mit.edu	37	7	92731813	92731813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:92731813C>T	ENST00000379958.2	-	3	3867	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1200						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCTATCTCTCCTTGATAA	0.338																																						uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3598-3600)GAG>AAG		sterile alpha motif domain containing 9							151.0	149.0	150.0					7																	92731813		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92731813C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3598G>A	7.37:g.92731813C>T	ENSP00000369292:p.Glu1200Lys					SAMD9_uc003umg.2_Missense_Mutation_p.E1200K	p.E1200K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3854	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1200					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3598G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359869	0.61403	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.26373	1.74;2.59	4.54	4.54	0.55810	.	0.351154	0.23173	N	0.051109	T	0.33904	0.0879	L	0.55990	1.75	0.33532	D	0.59371	D	0.52996	0.957	P	0.50537	0.643	T	0.52177	-0.8610	10	0.87932	D	0	-7.8509	11.9473	0.52936	0.0:0.8241:0.1759:0.0	.	1200	Q5K651	SAMD9_HUMAN	K	1200	ENSP00000369292:E1200K;ENSP00000414529:E1200K	ENSP00000369292:E1200K	E	-	1	0	SAMD9	92569749	0.986000	0.35501	0.999000	0.59377	0.762000	0.43233	2.807000	0.47955	2.349000	0.79799	0.511000	0.50034	GAG		0.338	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		17	125	0	0	0	0	17	125				
TAS2R40	259286	broad.mit.edu	37	7	142919246	142919246	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:142919246C>T	ENST00000408947.3	+	1	117	c.75C>T	c.(73-75)tcC>tcT	p.S25S	AC073342.1_ENST00000595842.1_Missense_Mutation_p.G39R	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	25					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TGGTGGTCTCCGGAATAGAGT	0.517																																						uc011ksx.1		NA																	0				ovary(1)	1						c.(73-75)TCC>TCT		taste receptor, type 2, member 40							111.0	113.0	112.0					7																	142919246		2033	4181	6214	SO:0001819	synonymous_variant	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919246C>T	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.75C>T	7.37:g.142919246C>T							p.S25S	NM_176882	NP_795363	P59535	T2R40_HUMAN			1	75	+	Melanoma(164;0.059)		25			Helical; Name=1; (Potential).		A4D2I2|Q645W6	Silent	SNP	ENST00000408947.3	37	c.75C>T	CCDS43662.1																																																																																				0.517	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			11	80	0	0	0	0	11	80				
CSPP1	79848	broad.mit.edu	37	8	68007559	68007559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:68007559G>A	ENST00000262210.5	+	6	573	c.542G>A	c.(541-543)gGt>gAt	p.G181D	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	216					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAACCTATTGGTCAAGTTAAG	0.328																																						uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(646-648)GGT>GAT		centrosome spindle pole associated protein 1							64.0	60.0	61.0					8																	68007559		1802	4074	5876	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68007559G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.542G>A	8.37:g.68007559G>A	ENSP00000262210:p.Gly181Asp					CSPP1_uc003xxg.1_Missense_Mutation_p.G208D|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.G181D|CSPP1_uc003xxk.2_5'UTR	p.G216D	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		8	678	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	216					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.647G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	9.841	1.190940	0.21954	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.32023	1.47	5.84	5.84	0.93424	.	0.482992	0.12593	U	0.455407	T	0.22003	0.0530	L	0.34521	1.04	0.80722	D	1	B;P;P	0.39480	0.355;0.675;0.675	B;B;B	0.35413	0.073;0.202;0.202	T	0.04191	-1.0970	10	0.51188	T	0.08	-3.0523	6.8285	0.23897	0.1475:0.1636:0.6889:0.0	.	181;216;216	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	D	181;216	ENSP00000262210:G181D	ENSP00000262210:G181D	G	+	2	0	CSPP1	68170113	0.136000	0.22515	0.927000	0.36925	0.347000	0.29111	0.860000	0.27871	2.751000	0.94390	0.650000	0.86243	GGT		0.328	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		14	71	0	0	0	0	14	71				
TMEM70	54968	broad.mit.edu	37	8	74893475	74893475	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:74893475A>C	ENST00000312184.5	+	3	475	c.402A>C	c.(400-402)gaA>gaC	p.E134D	Y_RNA_ENST00000365350.1_RNA|TMEM70_ENST00000517439.1_3'UTR	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	134					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTATTTCTGAAAGTGTGCCTC	0.373																																						uc003yab.2		NA																	0				ovary(1)	1						c.(400-402)GAA>GAC		transmembrane protein 70 isoform a							129.0	124.0	126.0					8																	74893475		2203	4300	6503	SO:0001583	missense	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74893475A>C	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.402A>C	8.37:g.74893475A>C	ENSP00000312599:p.Glu134Asp					TMEM70_uc003yac.2_3'UTR	p.E134D	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		3	489	+	Breast(64;0.0311)		134					E9PDY9|Q9NWY5	Missense_Mutation	SNP	ENST00000312184.5	37	c.402A>C	CCDS6215.1	.	.	.	.	.	.	.	.	.	.	A	0.271	-0.993148	0.02145	.	.	ENSG00000175606	ENST00000312184	T	0.63255	-0.03	5.19	5.19	0.71726	.	0.354886	0.30565	N	0.009358	T	0.41558	0.1164	N	0.16790	0.44	0.22940	N	0.998532	B	0.12013	0.005	B	0.12156	0.007	T	0.15521	-1.0434	10	0.07482	T	0.82	-4.6871	11.91	0.52733	0.732:0.268:0.0:0.0	.	134	Q9BUB7	TMM70_HUMAN	D	134	ENSP00000312599:E134D	ENSP00000312599:E134D	E	+	3	2	TMEM70	75056029	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.258000	0.32944	2.177000	0.69029	0.528000	0.53228	GAA		0.373	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		26	83	0	0	0	0	26	83				
KCNQ3	3786	broad.mit.edu	37	8	133152401	133152401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:133152401G>A	ENST00000388996.4	-	11	1910	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V	KCNQ3_ENST00000519445.1_Missense_Mutation_p.A497V|KCNQ3_ENST00000521134.1_Missense_Mutation_p.A377V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	497					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCTGTCTTCCGCCATGGGGTC	0.612																																						uc003ytj.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1489-1491)GCG>GTG		potassium voltage-gated channel KQT-like protein							55.0	56.0	55.0					8																	133152401		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133152401G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1490C>T	8.37:g.133152401G>A	ENSP00000373648:p.Ala497Val					KCNQ3_uc010mdt.2_Missense_Mutation_p.A497V	p.A497V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		11	1715	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		497					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1490C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	1.130	-0.652807	0.03480	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99656	-6.31;-6.31;-6.31	5.92	5.92	0.95590	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.571328	0.19743	N	0.107073	D	0.96466	0.8847	N	0.11560	0.145	0.09310	N	1	P;P	0.45474	0.859;0.859	B;B	0.32465	0.146;0.146	D	0.92181	0.5751	10	0.16896	T	0.51	-5.3752	11.4426	0.50105	0.0:0.1342:0.7268:0.139	.	497;497	E7ET42;O43525	.;KCNQ3_HUMAN	V	497;377;497;486;376	ENSP00000373648:A497V;ENSP00000429799:A377V;ENSP00000428790:A497V	ENSP00000373648:A497V	A	-	2	0	KCNQ3	133221583	0.049000	0.20398	0.958000	0.39756	0.289000	0.27227	2.024000	0.41049	2.804000	0.96469	0.655000	0.94253	GCG		0.612	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		13	31	0	0	0	0	13	31				
BRINP1	1620	broad.mit.edu	37	9	121929389	121929389	+	Silent	SNP	C	C	T	rs200802804		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:121929389C>T	ENST00000265922.3	-	8	2720	c.2259G>A	c.(2257-2259)tcG>tcA	p.S753S	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	753					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TCATCTGGTCCGACTGTTTGA	0.488																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(2257-2259)TCG>TCA		deleted in bladder cancer 1 precursor							231.0	223.0	226.0					9																	121929389		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929389C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2259G>A	9.37:g.121929389C>T							p.S753S	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	2715	-			753					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.2259G>A	CCDS6822.1																																																																																				0.488	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		27	155	0	0	0	0	27	155				
NOTCH1	4851	broad.mit.edu	37	9	139407533	139407533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:139407533G>A	ENST00000277541.6	-	15	2482	c.2407C>T	c.(2407-2409)Cag>Tag	p.Q803*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	803	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.			Q -> K (in Ref. 1; AAG33848 and 3; AAA60614). {ECO:0000305}.	anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACGTGCCCTGGTTCAGACAT	0.637			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2407-2409)CAG>TAG		notch1 preproprotein							110.0	114.0	113.0					9																	139407533		2128	4234	6362	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139407533G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2407C>T	9.37:g.139407533G>A	ENSP00000277541:p.Gln803*	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Nonsense_Mutation_p.Q33*	p.Q803*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	15	2407	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	803	Q -> K (in Ref. 1; AAG33848 and 3; AAA60614).		Extracellular (Potential).|EGF-like 21; calcium-binding (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.2407C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	40	7.991717	0.98599	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.58	4.58	0.56647	.	0.132800	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	16.3474	0.83146	0.0:0.0:1.0:0.0	.	.	.	.	X	803	.	ENSP00000277541:Q803X	Q	-	1	0	NOTCH1	138527354	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.348000	0.79366	2.095000	0.63458	0.455000	0.32223	CAG		0.637	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		11	36	0	0	0	0	11	36				
EHMT1	79813	broad.mit.edu	37	9	140611325	140611325	+	Silent	SNP	C	C	T	rs368961311	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:140611325C>T	ENST00000460843.1	+	3	360	c.333C>T	c.(331-333)gcC>gcT	p.A111A	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.A111A|EHMT1_ENST00000334856.6_Silent_p.A80A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	111					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACGTCACTGCCGACGACTTTG	0.542													c|||	2	0.000399361	0.0	0.0	5008	,	,		17766	0.001		0.001	False		,,,				2504	0.0					uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(331-333)GCC>GCT		euchromatic histone-lysine N-methyltransferase 1							111.0	115.0	114.0					9																	140611325		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611325C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.333C>T	9.37:g.140611325C>T						EHMT1_uc004coa.2_Silent_p.A111A|EHMT1_uc004cob.1_Silent_p.A80A	p.A111A	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	370	+	all_cancers(76;0.164)		111					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.333C>T	CCDS7050.2																																																																																				0.542	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		7	99	0	0	0	0	7	99				
DMD	1756	broad.mit.edu	37	X	32380923	32380923	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:32380923G>T	ENST00000357033.4	-	37	5513	c.5307C>A	c.(5305-5307)caC>caA	p.H1769Q	DMD_ENST00000378677.2_Missense_Mutation_p.H1765Q	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	1769	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)				TCTTAATTCTGTGTGAAATGG	0.473																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5305-5307)CAC>CAA		dystrophin Dp427m isoform							192.0	150.0	164.0					X																	32380923		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:32380923G>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.5307C>A	X.37:g.32380923G>T	ENSP00000354923:p.His1769Gln					DMD_uc004dcw.2_Missense_Mutation_p.H425Q|DMD_uc004dcx.2_Missense_Mutation_p.H428Q|DMD_uc004dcz.2_Missense_Mutation_p.H1646Q|DMD_uc004dcy.1_Missense_Mutation_p.H1765Q|DMD_uc004ddb.1_Missense_Mutation_p.H1761Q|DMD_uc010ngo.1_Intron	p.H1769Q	NM_004006	NP_003997	P11532	DMD_HUMAN			37	5551	-		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)	1769			Spectrin 12.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5307C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	0.602	-0.828697	0.02734	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.43688	0.94;0.94	5.36	3.43	0.39272	.	0.203852	0.23736	U	0.045067	T	0.09862	0.0242	N	0.00496	-1.435	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.002	T	0.34477	-0.9827	10	0.02654	T	1	.	6.4958	0.22142	0.0:0.2313:0.3367:0.432	.	1761;1769;1765;428;425	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Q	1761;428;425;1765;1769;1769;1646	ENSP00000367948:H1765Q;ENSP00000354923:H1769Q	ENSP00000354923:H1769Q	H	-	3	2	DMD	32290844	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.506000	0.35747	2.218000	0.71995	0.544000	0.68410	CAC		0.473	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		14	140	1	0	3.33e-07	3.72e-06	14	140				
AMER1	139285	broad.mit.edu	37	X	63410343	63410343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:63410343G>A	ENST00000330258.3	-	2	3096	c.2824C>T	c.(2824-2826)Cga>Tga	p.R942*	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	942					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GGACTGTCTCGGCTCCATTCT	0.587																																						uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(2824-2826)CGA>TGA		family with sequence similarity 123B							50.0	50.0	50.0					X																	63410343		1965	4135	6100	SO:0001587	stop_gained	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63410343G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2824C>T	X.37:g.63410343G>A	ENSP00000329117:p.Arg942*						p.R942*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	3097	-			942					A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	c.2824C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	40	8.297622	0.98747	.	.	ENSG00000184675	ENST00000330258	.	.	.	4.79	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.35045	D	0.760057	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.174	3.9534	0.09379	0.0949:0.1596:0.5778:0.1677	.	.	.	.	X	942	.	.	R	-	1	2	FAM123B	63327068	0.104000	0.21937	0.928000	0.36995	0.773000	0.43773	0.330000	0.19715	0.544000	0.28883	0.529000	0.55759	CGA		0.587	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		7	49	0	0	0	0	7	49				
KIF4A	24137	broad.mit.edu	37	X	69510347	69510347	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:69510347G>A	ENST00000374403.3	+	2	121	c.39G>A	c.(37-39)gcG>gcA	p.A13A	PDZD11_ENST00000473667.1_5'Flank|PDZD11_ENST00000239666.4_5'Flank|KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Silent_p.A13A|PDZD11_ENST00000374454.1_5'Flank	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	13	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TAAGAGTGGCGCTGCGTTGTC	0.557																																						uc004dyg.2		NA																	0				ovary(4)	4						c.(37-39)GCG>GCA		kinesin family member 4							82.0	70.0	74.0					X																	69510347		2203	4300	6503	SO:0001819	synonymous_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69510347G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.39G>A	X.37:g.69510347G>A						KIF4A_uc010nkw.2_Silent_p.A13A|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.1_Silent_p.A13A	p.A13A	NM_012310	NP_036442	O95239	KIF4A_HUMAN			2	166	+			13			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	c.39G>A	CCDS14401.1																																																																																				0.557	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		9	50	0	0	0	0	9	50				
RLIM	51132	broad.mit.edu	37	X	73812879	73812879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:73812879C>T	ENST00000332687.6	-	4	489	c.271G>A	c.(271-273)Gat>Aat	p.D91N	RLIM_ENST00000349225.2_Missense_Mutation_p.D91N	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	91					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAGACACATCATCTGAAGAG	0.418																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NA																	0				ovary(2)	2						c.(271-273)GAT>AAT		ring finger protein, LIM domain interacting							45.0	40.0	42.0					X																	73812879		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812879C>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.271G>A	X.37:g.73812879C>T	ENSP00000328059:p.Asp91Asn					RLIM_uc004ebw.2_Missense_Mutation_p.D91N	p.D91N	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	561	-			91					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.271G>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414558	0.62511	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.07114	3.22;3.22	5.93	5.93	0.95920	.	0.098533	0.64402	D	0.000003	T	0.19725	0.0474	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.03278	-1.1053	10	0.19147	T	0.46	-5.4874	19.251	0.93925	0.0:1.0:0.0:0.0	.	91	Q9NVW2	RNF12_HUMAN	N	91	ENSP00000328059:D91N;ENSP00000253571:D91N	ENSP00000328059:D91N	D	-	1	0	RLIM	73729604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.713000	0.68415	2.498000	0.84270	0.600000	0.82982	GAT		0.418	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		7	70	0	0	0	0	7	70				
SRPX2	27286	broad.mit.edu	37	X	99925827	99925827	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:99925827C>G	ENST00000373004.3	+	11	1669	c.1241C>G	c.(1240-1242)tCc>tGc	p.S414C	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	414					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CTCACTCGCTCCTACTTCAAC	0.517											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004egb.2		NA																	0				ovary(2)	2						c.(1240-1242)TCC>TGC		sushi-repeat-containing protein, X-linked 2							162.0	126.0	139.0					X																	99925827		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99925827C>G	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1241C>G	X.37:g.99925827C>G	ENSP00000362095:p.Ser414Cys		OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347		p.S414C	NM_014467	NP_055282	O60687	SRPX2_HUMAN			11	1721	+			414					B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.1241C>G	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958748	0.53400	.	.	ENSG00000102359	ENST00000373004	T	0.46451	0.87	5.1	4.24	0.50183	.	0.301944	0.36482	N	0.002571	T	0.41003	0.1140	L	0.51422	1.61	0.41530	D	0.98845	P	0.46020	0.871	P	0.46758	0.526	T	0.21999	-1.0229	9	.	.	.	-7.49	8.5466	0.33426	0.1519:0.7668:0.0:0.0814	.	414	O60687	SRPX2_HUMAN	C	414	ENSP00000362095:S414C	.	S	+	2	0	SRPX2	99812483	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.519000	0.22862	1.143000	0.42306	0.529000	0.55759	TCC		0.517	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		3	101	0	0	0	0	3	101				
ARHGEF6	9459	broad.mit.edu	37	X	135754234	135754234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:135754234C>A	ENST00000250617.6	-	20	3285	c.2080G>T	c.(2080-2082)Gag>Tag	p.E694*	ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E540*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E567*|ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E540*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	694					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)					ATGAGTTTCTCTTCCTCAGGG	0.473																																						uc004fab.2		NA																	0					0						c.(2080-2082)GAG>TAG		Rac/Cdc42 guanine nucleotide exchange factor 6							238.0	207.0	217.0					X																	135754234		2203	4300	6503	SO:0001587	stop_gained	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:135754234C>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.2080G>T	X.37:g.135754234C>A	ENSP00000250617:p.Glu694*					ARHGEF6_uc011mwd.1_Nonsense_Mutation_p.E567*|ARHGEF6_uc011mwe.1_Nonsense_Mutation_p.E540*	p.E694*	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			20	2542	-	Acute lymphoblastic leukemia(192;0.000127)		694					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Nonsense_Mutation	SNP	ENST00000250617.6	37	c.2080G>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	41	8.611153	0.98884	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	.	.	.	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.2501	0.66013	0.0:0.9272:0.0:0.0728	.	.	.	.	X	694;540;540;540;567	.	ENSP00000250617:E694X	E	-	1	0	ARHGEF6	135581900	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.343000	0.65976	1.290000	0.44636	0.600000	0.82982	GAG		0.473	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		13	159	1	0	0.000219431	0.00237628	13	159				
ATP2C2	9914	broad.mit.edu	37	16	84492766	84492766	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr16:84492766delA	ENST00000262429.4	+	22	2277	c.2188delA	c.(2188-2190)aaafs	p.K730fs	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Frame_Shift_Del_p.K730fs	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	730					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTACAACATCAAAAACTTTGT	0.557																																						uc002fhx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2188-2190)AAAfs		ATPase, Ca++ transporting, type 2C, member 2							95.0	105.0	101.0					16																	84492766		2052	4218	6270	SO:0001589	frameshift_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84492766delA	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2188delA	16.37:g.84492766delA	ENSP00000262429:p.Lys730fs					ATP2C2_uc010chj.2_Frame_Shift_Del_p.K730fs|ATP2C2_uc002fhy.2_Frame_Shift_Del_p.K747fs|ATP2C2_uc002fhz.2_Frame_Shift_Del_p.K579fs|ATP2C2_uc002fia.2_5'Flank	p.K730fs	NM_014861	NP_055676	O75185	AT2C2_HUMAN			22	2277	+			730			Extracellular (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Frame_Shift_Del	DEL	ENST00000262429.4	37	c.2188delA	CCDS42207.1																																																																																				0.557	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		7	92	NA	NA	NA	NA	7	92	---	---	---	---
NEK1	4750	broad.mit.edu	37	4	170523716	170523716	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:170523716delT	ENST00000439128.2	-	2	706	c.66delA	c.(64-66)aaafs	p.K22fs	NEK1_ENST00000511633.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000510533.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000512193.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000507142.1_Frame_Shift_Del_p.K22fs	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	22	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTTCTGTAGATTTAACAAGAA	0.318																																						uc003isb.1		NA																	0				lung(3)|ovary(2)|large_intestine(1)	6						c.(64-66)AAAfs		NIMA-related kinase 1							149.0	145.0	146.0					4																	170523716		1811	4076	5887	SO:0001589	frameshift_variant	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170523716delT	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.66delA	4.37:g.170523716delT	ENSP00000408020:p.Lys22fs					NEK1_uc003isc.1_Frame_Shift_Del_p.K22fs|NEK1_uc003isd.1_Frame_Shift_Del_p.K22fs|NEK1_uc003ise.1_Frame_Shift_Del_p.K22fs|NEK1_uc003isf.1_Frame_Shift_Del_p.K22fs	p.K22fs	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	2	558	-		Prostate(90;0.00601)|Renal(120;0.0183)	22			Protein kinase.		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Frame_Shift_Del	DEL	ENST00000439128.2	37	c.66delA	CCDS47162.1																																																																																				0.318	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			22	165	NA	NA	NA	NA	22	165	---	---	---	---
