#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
B4GALNT4	338707	genome.wustl.edu	37	11	376331	376331	+	Missense_Mutation	SNP	T	T	A	rs149045708	byFrequency	TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr11:376331T>A	ENST00000329962.6	+	13	1277	c.1277T>A	c.(1276-1278)tTc>tAc	p.F426Y		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	426					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.F426Y(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCCGAGCCTTCCTCTTCCTC	0.627													.|||	43	0.00858626	0.0015	0.013	5008	,	,		7263	0.0		0.0249	False		,,,				2504	0.0072															1	Substitution - Missense(1)	ovary(1)	11						T	TYR/PHE	30,4364	36.0+/-67.5	0,30,2167	71.0	70.0	71.0		1277	2.2	1.0	11	dbSNP_134	71	327,8269	112.1+/-172.3	6,315,3977	yes	missense	B4GALNT4	NM_178537.4	22	6,345,6144	AA,AT,TT		3.8041,0.6827,2.7483	probably-damaging	426/1040	376331	357,12633	2197	4298	6495	366331	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1277T>A	11.37:g.376331T>A	ENSP00000328277:p.Phe426Tyr		366331	Q96LV2	Missense_Mutation	SNP	HMMSmart_PA14,HMMPfam_PA14,HMMPfam_CHGN,superfamily_SSF53448	p.F426Y	ENST00000329962.6	37	c.1277	CCDS7694.1	11	29	0.013278388278388278	2	0.0040650406504065045	6	0.016574585635359115	0	0.0	21	0.027704485488126648	t	15.49	2.849805	0.51270	0.006827	0.038041	ENSG00000182272	ENST00000329962	T	0.06687	3.27	3.36	2.24	0.28232	.	1.705680	0.03350	N	0.196070	T	0.03305	0.0096	L	0.58101	1.795	0.32780	N	0.502676	D	0.61697	0.99	P	0.51701	0.677	T	0.34950	-0.9808	10	0.13108	T	0.6	-8.7865	6.775	0.23615	0.0:0.1192:0.0:0.8808	.	426	Q76KP1	B4GN4_HUMAN	Y	426	ENSP00000328277:F426Y	ENSP00000328277:F426Y	F	+	2	0	B4GALNT4	366331	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.721000	0.47260	1.473000	0.48159	0.352000	0.21897	TTC	-	NULL		0.627	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	protein_coding	OTTHUMT00000239289.2	T	NM_178537		366331	+1	no_errors	NM_178537	genbank	human	provisional	54_36p	missense	SNP	1.000	A
VPS16	64601	genome.wustl.edu	37	20	2843377	2843377	+	Intron	SNP	C	C	T	rs576613361	byFrequency	TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr20:2843377C>T	ENST00000380445.3	+	12	1275				VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_Intron|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_Silent_p.A62A	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)						intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ATGGCCGGGCCGGGGAGGGTG	0.647													T|||	2	0.000399361	0.0015	0.0	5008	,	,		8423	0.0		0.0	False		,,,				2504	0.0															0			20											16.0	22.0	20.0					20																	2843377		2151	4241	6392	2791377	SO:0001627	intron_variant	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1203+21C>T	20.37:g.2843377C>T			2791377	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	HMMPfam_Vps16_N,HMMPfam_Vps16_C	p.A62	ENST00000380445.3	37	c.186	CCDS13036.1	20																																																																																			-	NULL		0.647	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	protein_coding	OTTHUMT00000077658.2	C	NM_022575		2791377	+1	no_errors	ENST00000380443	ensembl	human	known	54_36p	silent	SNP	0.002	T
HMOX2	3163	genome.wustl.edu	37	16	4557853	4557853	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr16:4557853A>C	ENST00000570646.1	+	4	949	c.344A>C	c.(343-345)tAt>tCt	p.Y115S	HMOX2_ENST00000406590.2_Missense_Mutation_p.Y115S|HMOX2_ENST00000398595.3_Missense_Mutation_p.Y115S|HMOX2_ENST00000414777.1_Missense_Mutation_p.Y115S|HMOX2_ENST00000458134.3_Missense_Mutation_p.Y115S|HMOX2_ENST00000219700.6_Missense_Mutation_p.Y115S|HMOX2_ENST00000575120.1_Missense_Mutation_p.Y86S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	115					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						GACATGGAGTATTTCTTTGGT	0.572																																																0			16											70.0	62.0	65.0					16																	4557853		2197	4300	6497	4497854	SO:0001583	missense	3163				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.344A>C	16.37:g.4557853A>C	ENSP00000459214:p.Tyr115Ser		4497854	A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	superfamily_Heme oxygenase-like,HMMPfam_Heme_oxygenase,PatternScan_HEME_OXYGENASE	p.Y115S	ENST00000570646.1	37	c.344	CCDS10517.1	16	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473783	0.63737	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.62	5.62	0.85841	Haem oxygenase-like, multi-helical (2);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.63033	-0.6727	10	0.87932	D	0	-17.0367	14.6409	0.68723	1.0:0.0:0.0:0.0	.	115;115	B3KSE0;P30519	.;HMOX2_HUMAN	S	115	ENSP00000385100:Y115S;ENSP00000394103:Y115S;ENSP00000219700:Y115S;ENSP00000391637:Y115S;ENSP00000381595:Y115S	ENSP00000219700:Y115S	Y	+	2	0	HMOX2	4497854	1.000000	0.71417	0.992000	0.48379	0.813000	0.45954	4.063000	0.57499	2.142000	0.66516	0.459000	0.35465	TAT	-	superfamily_Heme oxygenase-like,HMMPfam_Heme_oxygenase		0.572	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX2	protein_coding	OTTHUMT00000251636.2	A			4497854	+1	no_errors	NM_002134	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
VWF	7450	genome.wustl.edu	37	12	6103216	6103216	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr12:6103216G>T	ENST00000261405.5	-	37	6664	c.6410C>A	c.(6409-6411)tCc>tAc	p.S2137Y		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2137	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCAGTGGGAGCTGTCGGG	0.582																																																0			12											88.0	77.0	81.0					12																	6103216		2203	4300	6503	5973477	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6410C>A	12.37:g.6103216G>T	ENSP00000261405:p.Ser2137Tyr		5973477	Q8TCE8|Q99806	Missense_Mutation	SNP	HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_VWC,PatternScan_VWFC_1,HMMSmart_SM00041,PatternScan_CTCK_1	p.S2137Y	ENST00000261405.5	37	c.6410	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	G	8.352	0.831167	0.16820	.	.	ENSG00000110799	ENST00000261405	T	0.78003	-1.14	5.17	5.17	0.71159	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.170257	0.28612	N	0.014725	D	0.86904	0.6045	M	0.77103	2.36	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	D	0.87787	0.2616	10	0.56958	D	0.05	.	14.1299	0.65247	0.0:0.1621:0.8379:0.0	.	2137	P04275	VWF_HUMAN	Y	2137	ENSP00000261405:S2137Y	ENSP00000261405:S2137Y	S	-	2	0	VWF	5973477	0.273000	0.24181	0.993000	0.49108	0.056000	0.15407	1.598000	0.36740	2.413000	0.81919	0.561000	0.74099	TCC	-	HMMPfam_C8		0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	G	NM_000552		5973477	-1	no_errors	NM_000552	genbank	human	reviewed	54_36p	missense	SNP	0.856	T
RPL6P27	645387	genome.wustl.edu	37	18	6462311	6462311	+	RNA	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr18:6462311G>A	ENST00000583065.1	-	0	587									ribosomal protein L6 pseudogene 27																		TTTCTGTGTCGAAGATCTCAC	0.403																																																0			18																																								6452311			645387					18p11.31	2009-03-11				ENSG00000235552			36133	pseudogene	pseudogene						19123937	Standard	NG_009652		Approved						18.37:g.6462311G>A			6452311		RNA	SNP	-	NULL	ENST00000583065.1	37	NULL		18																																																																																			-	-		0.403	RPL6P27-002	KNOWN	basic	processed_transcript	LOC645387	pseudogene	OTTHUMT00000444194.1	G	NG_009652		6452311	-1	pseudogene	XR_016424	genbank	human	model	54_36p	rna	SNP	1.000	A
C1RL	51279	genome.wustl.edu	37	12	7260932	7260932	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr12:7260932T>C	ENST00000266542.4	-	2	307	c.215A>G	c.(214-216)aAg>aGg	p.K72R	C1RL-AS1_ENST00000382215.3_RNA|C1RL_ENST00000544702.1_Missense_Mutation_p.K72R|C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000545337.1_Missense_Mutation_p.K72R|C1RL-AS1_ENST00000536679.1_RNA|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	72	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCTGGAGCCTTGATGTCCGT	0.632																																																0			12											80.0	81.0	81.0					12																	7260932		2203	4300	6503	7152208	SO:0001583	missense	51279			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.215A>G	12.37:g.7260932T>C	ENSP00000266542:p.Lys72Arg		7152208	Q53GX9	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_CUB,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER	p.K72R	ENST00000266542.4	37	c.215	CCDS8573.1	12	.	.	.	.	.	.	.	.	.	.	T	10.19	1.283249	0.23392	.	.	ENSG00000139178	ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	4.11	-0.0596	0.13792	CUB (5);	1.160520	0.06329	N	0.705837	T	0.06462	0.0166	N	0.11364	0.135	0.09310	N	0.999999	P;B;B	0.36837	0.571;0.103;0.002	B;B;B	0.33620	0.167;0.085;0.005	T	0.18272	-1.0342	10	0.07175	T	0.84	.	2.9467	0.05848	0.3857:0.1111:0.0:0.5032	.	72;72;72	F5GWF3;F5H7C8;Q9NZP8	.;.;C1RL_HUMAN	R	72	ENSP00000266542:K72R;ENSP00000441885:K72R;ENSP00000437398:K72R;ENSP00000442611:K72R	ENSP00000266542:K72R	K	-	2	0	C1RL	7152208	0.012000	0.17670	0.500000	0.27589	0.377000	0.30045	-0.177000	0.09796	0.206000	0.20587	0.460000	0.39030	AAG	-	superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_CUB		0.632	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	protein_coding	OTTHUMT00000398367.1	T	NM_016546		7152208	-1	no_errors	NM_016546	genbank	human	provisional	54_36p	missense	SNP	0.425	C
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	SO:0001583	missense	7157	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;	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519131	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PER1	5187	genome.wustl.edu	37	17	8052945	8052945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr17:8052945G>A	ENST00000317276.4	-	6	925	c.688C>T	c.(688-690)Cga>Tga	p.R230*	PER1_ENST00000581082.1_Intron|PER1_ENST00000354903.5_Nonsense_Mutation_p.R214*	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	230	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TAGACGATTCGGCCCGTCAGG	0.612			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0			17											60.0	64.0	63.0					17																	8052945		2203	4300	6503	7993670	SO:0001587	stop_gained	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.688C>T	17.37:g.8052945G>A	ENSP00000314420:p.Arg230*		7993670	B2RPA8|B4DI49|D3DTR3	Nonsense_Mutation	SNP	HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3	p.R230*	ENST00000317276.4	37	c.688	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.829168	0.97869	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	.	.	.	5.55	5.55	0.83447	.	0.193481	0.44483	D	0.000455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-14.5059	17.0051	0.86391	0.0:0.0:1.0:0.0	.	.	.	.	X	230;214	.	ENSP00000314420:R230X	R	-	1	2	PER1	7993670	0.768000	0.28519	1.000000	0.80357	0.936000	0.57629	1.751000	0.38339	2.620000	0.88729	0.563000	0.77884	CGA	-	HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain)		0.612	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	protein_coding	OTTHUMT00000441481.2	G			7993670	-1	no_errors	NM_002616	genbank	human	reviewed	54_36p	nonsense	SNP	0.971	A
FAM66D	100132923	genome.wustl.edu	37	8	11991510	11991510	+	RNA	SNP	G	G	A	rs115444041	byFrequency	TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr8:11991510G>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		AGAGTGAGTCGTCTTCCATGT	0.493													G|||	49	0.00978435	0.0363	0.0014	5008	,	,		20993	0.0		0.0	False		,,,				2504	0.0															0			8																																								12028919			392197					8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11991510G>A			12028919		Silent	SNP	PatternScan_UCH_2_1,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_2	p.D3	ENST00000434078.2	37	c.9		8																																																																																			-	NULL		0.493	FAM66D-201	KNOWN	basic	antisense	LOC392197	antisense		G	NR_027425		12028919	-1	no_errors	XM_373243	genbank	human	model	54_36p	silent	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	7	12511873	12511873	+	IGR	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr7:12511873C>T								VWDE (68342 upstream) : AC005281.1 (24181 downstream)																							AATTAAGGAGCAAAGAAGTGA	0.363																																																0			7																																								12478398	SO:0001628	intergenic_variant	389465																															7.37:g.12511873C>T			12478398		RNA	SNP	-	NULL		37	NULL		7																																																																																			-	-	0	0.363					LOC389465			C			12478398	+1	pseudogene	XR_017210	genbank	human	model	54_36p	rna	SNP	0.996	T
PRAMEF12	390999	genome.wustl.edu	37	1	12837355	12837355	+	Silent	SNP	A	A	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:12837355A>G	ENST00000357726.4	+	3	1092	c.1065A>G	c.(1063-1065)ttA>ttG	p.L355L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	355					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)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGGACTTAGAGGACTGTG	0.592																																																0			1											94.0	94.0	94.0					1																	12837355		2203	4300	6503	12759942	SO:0001819	synonymous_variant	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1065A>G	1.37:g.12837355A>G			12759942		Silent	SNP	superfamily_SSF52047	p.L355	ENST00000357726.4	37	c.1065	CCDS41254.1	1																																																																																			-	superfamily_SSF52047		0.592	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	protein_coding	OTTHUMT00000005457.1	A	XM_372760		12759942	+1	no_errors	NM_001080830	genbank	human	provisional	54_36p	silent	SNP	0.023	G
COLGALT1	79709	genome.wustl.edu	37	19	17670132	17670132	+	Silent	SNP	C	C	T	rs118174667	byFrequency	TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr19:17670132C>T	ENST00000252599.4	+	2	393	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	91					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TGGCTACGGACCACAACATGG	0.612													c|||	40	0.00798722	0.0008	0.0058	5008	,	,		17628	0.005		0.0139	False		,,,				2504	0.0164															0			19						C		7,4287		0,7,2140	146.0	108.0	121.0		273	2.6	1.0	19	dbSNP_132	121	71,8291		0,71,4110	no	coding-synonymous	GLT25D1	NM_024656.2		0,78,6250	TT,TC,CC		0.8491,0.163,0.6163		91/623	17670132	78,12578	2147	4181	6328	17531132	SO:0001819	synonymous_variant	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.273C>T	19.37:g.17670132C>T			17531132	Q8NC64	Silent	SNP	superfamily_SSF53448,HMMPfam_Glyco_transf_25,PatternScan_ER_TARGET	p.D91	ENST00000252599.4	37	c.273	CCDS12363.1	19																																																																																			-	superfamily_SSF53448		0.612	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	protein_coding	OTTHUMT00000464216.1	C	NM_024656		17531132	+1	no_errors	NM_024656	genbank	human	provisional	54_36p	silent	SNP	1.000	T
KCNN1	3780	genome.wustl.edu	37	19	18085910	18085910	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr19:18085910T>A	ENST00000222249.9	+	4	731	c.412T>A	c.(412-414)Tac>Aac	p.Y138N	RNA5SP468_ENST00000516782.1_RNA	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	138					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	GGAGTCTCTGTACTCATTCGC	0.612																																																0			19											102.0	106.0	105.0					19																	18085910		2095	4210	6305	17946910	SO:0001583	missense	3780			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.412T>A	19.37:g.18085910T>A	ENSP00000476519:p.Tyr138Asn		17946910	Q5KR10|Q6DJU4	Missense_Mutation	SNP	HMMPfam_SK_channel,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2,superfamily_Small-conductance potassium channel,HMMPfam_CaMBD	p.Y138N	ENST00000222249.9	37	c.412		19	.	.	.	.	.	.	.	.	.	.	T	18.93	3.727075	0.69074	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	3.89	2.87	0.33458	Potassium channel, calcium-activated, SK, conserved region (1);	0.311390	0.31061	N	0.008328	T	0.70631	0.3246	M	0.79475	2.455	0.33926	D	0.641502	P	0.41366	0.747	P	0.59948	0.866	T	0.76482	-0.2943	9	0.66056	D	0.02	-5.6281	6.9584	0.24583	0.0:0.1145:0.0:0.8855	.	138	Q92952	KCNN1_HUMAN	N	155;138	.	ENSP00000222249:Y155N	Y	+	1	0	KCNN1	17946910	0.999000	0.42202	0.978000	0.43139	0.963000	0.63663	5.599000	0.67592	0.576000	0.29452	0.459000	0.35465	TAC	-	HMMPfam_SK_channel		0.612	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	KCNN1	protein_coding	OTTHUMT00000471896.2	T	NM_002248		17946910	+1	no_errors	NM_002248	genbank	human	reviewed	54_36p	missense	SNP	0.984	A
TERF1P5	283523	genome.wustl.edu	37	13	19255480	19255480	+	IGR	SNP	C	C	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr13:19255480C>A								LINC00387 (5177 upstream) : LINC00418 (37426 downstream)																							AAAGGTCTCACAAGAATCTTT	0.318																																																0			13																																								18153480	SO:0001628	intergenic_variant	283523																															13.37:g.19255480C>A			18153480		Missense_Mutation	SNP	superfamily_Telomeric repeat binding factor (TRF) dimerisation domain,HMMPfam_TRF,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding	p.H312Q		37	c.936		13																																																																																			-	NULL	0	0.318					LOC283523			C			18153480	+1	pseudogene	XM_001714856	genbank	human	model	54_36p	missense	SNP	0.987	A
ZNF729	100287226	genome.wustl.edu	37	19	22499875	22499875	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr19:22499875A>G	ENST00000601693.1	+	4	3774	c.3656A>G	c.(3655-3657)aAg>aGg	p.K1219R	ZNF729_ENST00000357491.6_Intron			A6NN14	ZN729_HUMAN	zinc finger protein 729	1219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						ACAAATGTGAAGAAAGTACCA	0.353																																																0			19																																								22291715	SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.3656A>G	19.37:g.22499875A>G	ENSP00000469582:p.Lys1219Arg		22291715	M0QY45	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.K1258R	ENST00000601693.1	37	c.3773	CCDS59368.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers		0.353	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LOC100130518	protein_coding	OTTHUMT00000464396.1	A	XM_496301		22291715	+1	no_errors	XM_001719773	genbank	human	model	54_36p	missense	SNP	0.000	G
BTN2A3P	54718	genome.wustl.edu	37	6	26431093	26431093	+	RNA	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr6:26431093C>T	ENST00000466808.2	+	0	1447							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CAGAGAGATTCGACAGTCAGC	0.517																																																0			6											131.0	130.0	130.0					6																	26431093		2203	4300	6503	26539072			54718			AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431093C>T			26539072	A6NEF4	Silent	SNP	superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IGv,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY	p.F337	ENST00000466808.2	37	c.1011		6																																																																																			-	HMMSmart_PRY		0.517	BTN2A3P-001	KNOWN	basic	processed_transcript	BTN2A3	pseudogene	OTTHUMT00000040118.4	C	NR_027795		26539072	+1	no_errors	NM_024018	genbank	human	validated	54_36p	silent	SNP	0.306	T
HIST1H2AG	8969	genome.wustl.edu	37	6	27100953	27100953	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr6:27100953C>T	ENST00000359193.2	+	1	122	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	35						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCACCGCCTGCTCCGCAAAGG	0.682																																																0			6											31.0	36.0	35.0					6																	27100953		2203	4300	6503	27208932	SO:0001583	missense	8969			L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.103C>T	6.37:g.27100953C>T	ENSP00000352119:p.Leu35Phe		27208932	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A	p.L35F	ENST00000359193.2	37	c.103	CCDS4619.1	6	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490511	0.44249	.	.	ENSG00000196787	ENST00000359193	T	0.60797	0.16	4.08	4.08	0.47627	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.34986	N	0.003526	T	0.47637	0.1456	.	.	.	0.32274	N	0.568546	P	0.47841	0.901	P	0.49665	0.618	T	0.55477	-0.8135	9	0.87932	D	0	.	8.42	0.32694	0.0:0.8895:0.0:0.1105	.	35	P0C0S8	H2A1_HUMAN	F	35	ENSP00000352119:L35F	ENSP00000352119:L35F	L	+	1	0	HIST1H2AG	27208932	1.000000	0.71417	0.989000	0.46669	0.308000	0.27856	2.611000	0.46334	2.217000	0.71921	0.655000	0.94253	CTC	-	superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone		0.682	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AG	protein_coding	OTTHUMT00000040137.1	C	NM_021064		27208932	+1	no_errors	NM_021064	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
OR2J2	26707	genome.wustl.edu	37	6	29141853	29141853	+	Silent	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr6:29141853G>A	ENST00000377167.2	+	1	543	c.441G>A	c.(439-441)gcG>gcA	p.A147A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTTGGTTGCGGCTTCTTGGG	0.463																																																0			6											295.0	269.0	278.0					6																	29141853		1981	4160	6141	29249832	SO:0001819	synonymous_variant	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.441G>A	6.37:g.29141853G>A			29249832	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A147	ENST00000377167.2	37	c.441	CCDS43434.1	6																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J2	protein_coding	OTTHUMT00000076131.2	G			29249832	+1	no_errors	NM_030905	genbank	human	validated	54_36p	silent	SNP	0.043	A
PSORS1C1	170679	genome.wustl.edu	37	6	31084483	31084483	+	Intron	SNP	A	A	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr6:31084483A>C	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.S303S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GATAACTGTCAGAGGAGCCAC	0.552																																																0			6											34.0	33.0	33.0					6																	31084483		1957	3933	5890	31192462	SO:0001627	intron_variant	1041			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1815A>C	6.37:g.31084483A>C			31192462	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	PatternScan_AA_TRANSFER_CLASS_2	p.S303	ENST00000259881.9	37	c.909	CCDS34390.1	6																																																																																			-	NULL		0.552	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDSN	protein_coding	OTTHUMT00000076110.3	A	NM_014068		31192462	-1	no_errors	NM_001264	genbank	human	reviewed	54_36p	silent	SNP	0.224	C
KBTBD6	89890	genome.wustl.edu	37	13	41705386	41705386	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr13:41705386C>T	ENST00000379485.1	-	1	1496	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R355H	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	421										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ACACAGCAAGCGATCTGCAAG	0.488																																																0			13											112.0	107.0	109.0					13																	41705386		2203	4298	6501	40603386	SO:0001583	missense	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1262G>A	13.37:g.41705386C>T	ENSP00000368799:p.Arg421His		40603386	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch	p.R421H	ENST00000379485.1	37	c.1262	CCDS9376.1	13	.	.	.	.	.	.	.	.	.	.	c	11.78	1.741716	0.30865	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.66460	-0.21;-0.21	3.8	1.93	0.25924	Kelch-type beta propeller (1);	0.126768	0.47852	D	0.000209	T	0.48409	0.1498	L	0.31065	0.9	0.29823	N	0.830696	B;B	0.23377	0.067;0.084	B;B	0.14023	0.01;0.004	T	0.45056	-0.9287	10	0.56958	D	0.05	.	6.1459	0.20285	0.0:0.6919:0.1924:0.1157	.	355;421	F5GZN7;Q86V97	.;KBTB6_HUMAN	H	421;355	ENSP00000368799:R421H;ENSP00000444326:R355H	ENSP00000368799:R421H	R	-	2	0	KBTBD6	40603386	0.989000	0.36119	0.654000	0.29608	0.735000	0.41995	1.745000	0.38278	0.346000	0.23899	0.462000	0.41574	CGC	-	superfamily_Gal_oxid_central		0.488	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	protein_coding	OTTHUMT00000044657.1	C	NM_152903		40603386	-1	no_errors	NM_152903	genbank	human	validated	54_36p	missense	SNP	1.000	T
TRAK1	22906	genome.wustl.edu	37	3	42251732	42251732	+	Intron	SNP	G	G	A	rs374428098		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:42251732G>A	ENST00000327628.5	+	14	2363				TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000341421.3_Missense_Mutation_p.A682T	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGTAGCTTCCGCTCGTCTGTG	0.478																																					GBM(44;195 884 22595 31865 41850)											0			3											263.0	278.0	273.0					3																	42251732		2203	4300	6503	42226736	SO:0001627	intron_variant	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+255G>A	3.37:g.42251732G>A			42226736	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	HMMPfam_HAP1_N	p.A682T	ENST00000327628.5	37	c.2044	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180063	0.78564	.	.	ENSG00000182606	ENST00000341421	T	0.09538	2.97	5.41	4.52	0.55395	.	.	.	.	.	T	0.09905	0.0243	N	0.19112	0.55	0.21020	N	0.999802	.	.	.	.	.	.	T	0.33111	-0.9881	6	.	.	.	.	13.1405	0.59432	0.0:0.0:0.8399:0.1601	.	.	.	.	T	682	ENSP00000340702:A682T	.	A	+	1	0	TRAK1	42226736	1.000000	0.71417	0.564000	0.28396	0.956000	0.61745	4.720000	0.61944	1.373000	0.46208	0.655000	0.94253	GCT	-	NULL		0.478	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	protein_coding	OTTHUMT00000343413.1	G	NM_014965		42226736	+1	no_errors	NM_014965	genbank	human	validated	54_36p	missense	SNP	0.998	A
CUL9	23113	genome.wustl.edu	37	6	43154024	43154024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr6:43154024G>A	ENST00000252050.4	+	4	1166	c.1082G>A	c.(1081-1083)tGg>tAg	p.W361*	CUL9_ENST00000354495.3_Nonsense_Mutation_p.W361*|CUL9_ENST00000372647.2_Nonsense_Mutation_p.W361*	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	361					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGACAAGGGTGGGTCTTCCGC	0.577																																																0			6											76.0	79.0	78.0					6																	43154024		2203	4300	6503	43262002	SO:0001587	stop_gained	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1082G>A	6.37:g.43154024G>A	ENSP00000252050:p.Trp361*		43262002	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Nonsense_Mutation	SNP	"superfamily_ARM repeat,superfamily_Galactose-binding domain-like,HMMPfam_APC10,PatternScan_CYTOCHROME_P450,HMMPfam_Cullin,superfamily_Cullin homology domain,superfamily_""Winged helix"" DNA-binding domain,PatternScan_CULLIN_1,superfamily_RING/U-box,HMMPfam_IBR,HMMSmart_SM00647,PatternScan_ZF_RING_1"	p.W361*	ENST00000252050.4	37	c.1082	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.237890	0.95240	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	.	.	.	5.5	4.63	0.57726	.	1.264050	0.05032	N	0.474747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.8782	11.2137	0.48815	0.1472:0.0:0.8528:0.0	.	.	.	.	X	361	.	ENSP00000252050:W361X	W	+	2	0	CUL9	43262002	0.002000	0.14202	0.884000	0.34674	0.920000	0.55202	1.114000	0.31196	1.329000	0.45376	0.467000	0.42956	TGG	-	NULL		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	protein_coding	OTTHUMT00000040582.2	G	NM_015089		43262002	+1	no_errors	NM_015089	genbank	human	validated	54_36p	nonsense	SNP	0.233	A
LGALS4	3960	genome.wustl.edu	37	19	39292788	39292788	+	Silent	SNP	G	G	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr19:39292788G>T	ENST00000307751.4	-	9	1146	c.669C>A	c.(667-669)atC>atA	p.I223I		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	223	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCTTGAAGTTGATAGCAAAGC	0.587																																																0			19											38.0	36.0	37.0					19																	39292788		2203	4300	6503	43984628	SO:0001819	synonymous_variant	3960				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.669C>A	19.37:g.39292788G>T			43984628		Silent	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin	p.I223	ENST00000307751.4	37	c.669	CCDS12521.1	19																																																																																			-	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin		0.587	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS4	protein_coding	OTTHUMT00000462641.1	G	NM_006149		43984628	-1	no_errors	NM_006149	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
MAP4	4134	genome.wustl.edu	37	3	47960286	47960286	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:47960286A>G	ENST00000360240.6	-	6	1093	c.575T>C	c.(574-576)gTg>gCg	p.V192A	MAP4_ENST00000395734.3_Missense_Mutation_p.V192A|MAP4_ENST00000426837.2_Missense_Mutation_p.V209A|MAP4_ENST00000383737.4_Missense_Mutation_p.V192A	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	192					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TAAGGCTTCCACAGACCACCC	0.438																																																0			3											100.0	93.0	95.0					3																	47960286		2203	4300	6503	47935290	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.575T>C	3.37:g.47960286A>G	ENSP00000353375:p.Val192Ala		47935290	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	HMMPfam_Tubulin-binding,PatternScan_TAU_MAP	p.V192A	ENST00000360240.6	37	c.575	CCDS33750.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.18|10.18	1.280013|1.280013	0.23392|0.23392	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240|ENST00000423088	T;T;T;T|.	0.12361|.	2.69;2.8;2.83;2.79|.	4.51|4.51	2.1|2.1	0.27182|0.27182	.|.	.|.	.|.	.|.	.|.	T|T	0.38268|0.38268	0.1034|0.1034	L|L	0.28115|0.28115	0.83|0.83	0.45594|0.45594	D|D	0.998533|0.998533	B;B;B|.	0.16396|.	0.017;0.013;0.002|.	B;B;B|.	0.14578|.	0.007;0.011;0.004|.	T|T	0.07385|0.07385	-1.0775|-1.0775	9|5	0.51188|.	T|.	0.08|.	-0.8173|-0.8173	4.772|4.772	0.13160|0.13160	0.7103:0.1909:0.0988:0.0|0.7103:0.1909:0.0988:0.0	.|.	169;192;192|.	C9JFC3;P27816-6;P27816|.	.;.;MAP4_HUMAN|.	A|R	192;192;209;192|161	ENSP00000373243:V192A;ENSP00000379083:V192A;ENSP00000407602:V209A;ENSP00000353375:V192A|.	ENSP00000353375:V192A|.	V|W	-|-	2|1	0|0	MAP4|MAP4	47935290|47935290	0.304000|0.304000	0.24472|0.24472	0.640000|0.640000	0.29408|0.29408	0.386000|0.386000	0.30323|0.30323	1.347000|1.347000	0.33975|0.33975	0.345000|0.345000	0.23873|0.23873	-0.429000|-0.429000	0.05907|0.05907	GTG|TGG	-	NULL		0.438	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	protein_coding	OTTHUMT00000346085.1	A	NM_002375		47935290	-1	no_errors	NM_002375	genbank	human	reviewed	54_36p	missense	SNP	0.637	G
UBA7	7318	genome.wustl.edu	37	3	49849924	49849924	+	Missense_Mutation	SNP	C	C	T	rs199791699		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:49849924C>T	ENST00000333486.3	-	6	769	c.611G>A	c.(610-612)cGt>cAt	p.R204H	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	204	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTCTCCATCACGGAAGTAGTG	0.572																																																0			3											81.0	76.0	78.0					3																	49849924		2203	4300	6503	49824928	SO:0001583	missense	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.611G>A	3.37:g.49849924C>T	ENSP00000333266:p.Arg204His		49824928	Q9BRB2	Missense_Mutation	SNP	PatternScan_UBIQUITIN_ACTIVAT_1,superfamily_MoeB,HMMPfam_ThiF,HMMPfam_UBA_e1_thiolCys,PatternScan_UBIQUITIN_ACTIVAT_2,HMMPfam_UBACT,HMMPfam_UBA_e1_C	p.R204H	ENST00000333486.3	37	c.611	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392420	0.42410	.	.	ENSG00000182179	ENST00000333486	T	0.30448	1.53	5.46	-4.99	0.03010	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	1.802330	0.01983	N	0.044960	T	0.10895	0.0266	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23797	-1.0178	10	0.52906	T	0.07	6.3175	4.3259	0.11039	0.1051:0.2416:0.1042:0.5492	.	204	P41226	UBA7_HUMAN	H	204	ENSP00000333266:R204H	ENSP00000333266:R204H	R	-	2	0	UBA7	49824928	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.706000	0.05047	-0.813000	0.04357	0.462000	0.41574	CGT	-	superfamily_MoeB		0.572	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	protein_coding	OTTHUMT00000350503.1	C	NM_003335		49824928	-1	no_errors	NM_003335	genbank	human	reviewed	54_36p	missense	SNP	0.002	T
SAMD4A	23034	genome.wustl.edu	37	14	55226944	55226944	+	Silent	SNP	G	G	A	rs577864831	byFrequency	TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr14:55226944G>A	ENST00000554335.1	+	7	1905	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	SAMD4A_ENST00000555192.1_Silent_p.P5P|SAMD4A_ENST00000392067.3_Silent_p.P414P|SAMD4A_ENST00000357634.3_Silent_p.P413P|SAMD4A_ENST00000251091.5_Silent_p.P326P			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	414					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCCTGACTCCGATCAAGGCCT	0.677													G|||	2	0.000399361	0.0	0.0	5008	,	,		14892	0.001		0.001	False		,,,				2504	0.0															0			14																																								54296694	SO:0001819	synonymous_variant	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1242G>A	14.37:g.55226944G>A			54296694	A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain	p.P413	ENST00000554335.1	37	c.1239	CCDS32084.2	14																																																																																			-	NULL		0.677	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	protein_coding	OTTHUMT00000411186.1	G	NM_015589		54296694	+1	no_errors	NM_015589	genbank	human	provisional	54_36p	silent	SNP	0.985	A
RP1	6101	genome.wustl.edu	37	8	55533784	55533784	+	Silent	SNP	T	T	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr8:55533784T>G	ENST00000220676.1	+	2	406	c.258T>G	c.(256-258)ccT>ccG	p.P86P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	86	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGCACCCCTCGGGGCAGGC	0.587																																					Colon(91;1014 1389 7634 14542 40420)											0			8											100.0	82.0	88.0					8																	55533784		2203	4300	6503	55696337	SO:0001819	synonymous_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.258T>G	8.37:g.55533784T>G			55696337		Silent	SNP	superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX	p.P86	ENST00000220676.1	37	c.258	CCDS6160.1	8																																																																																			-	superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX		0.587	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	T	NM_006269		55696337	+1	no_errors	ENST00000220676	ensembl	human	known	54_36p	silent	SNP	0.050	G
LILRB1	10859	genome.wustl.edu	37	19	55143564	55143564	+	Silent	SNP	C	C	T	rs532278161		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr19:55143564C>T	ENST00000396331.1	+	6	894	c.537C>T	c.(535-537)cgC>cgT	p.R179R	AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396315.1_Silent_p.R179R|LILRB1_ENST00000427581.2_Silent_p.R215R|LILRB1_ENST00000434867.2_Silent_p.R179R|LILRB1_ENST00000396332.4_Silent_p.R179R|LILRB1_ENST00000396317.1_Silent_p.R179R|LILRB1_ENST00000324602.7_Silent_p.R179R|LILRB1_ENST00000396327.3_Silent_p.R179R|LILRB1_ENST00000448689.1_Silent_p.R179R|LILRB1_ENST00000418536.2_Silent_p.R179R|LILRB1_ENST00000396321.2_Silent_p.R179R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	179	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGTCGTCCCGCGCCATCTTCT	0.577										HNSCC(37;0.09)																																						0			19											129.0	126.0	127.0					19																	55143564		2203	4300	6503	59835376	SO:0001819	synonymous_variant	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.537C>T	19.37:g.55143564C>T			59835376	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig	p.R179	ENST00000396331.1	37	c.537	CCDS42617.1	19																																																																																			-	superfamily_SSF48726,HMMPfam_ig		0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	protein_coding	OTTHUMT00000140796.4	C			59835376	+1	no_errors	NM_001081637	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
PTPRG	5793	genome.wustl.edu	37	3	61975339	61975339	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:61975339C>G	ENST00000474889.1	+	3	608	c.231C>G	c.(229-231)agC>agG	p.S77R	PTPRG_ENST00000295874.10_Missense_Mutation_p.S77R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	77	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTAGTGTCAGCTGTGGGGGCC	0.493																																																0			3											96.0	87.0	90.0					3																	61975339		2203	4300	6503	61950379	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.231C>G	3.37:g.61975339C>G	ENSP00000418112:p.Ser77Arg		61950379	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.S77R	ENST00000474889.1	37	c.231	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288494	0.40494	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.67171	-0.25;-0.25	5.65	4.59	0.56863	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.351549	0.34700	N	0.003755	T	0.51517	0.1679	L	0.31804	0.96	0.33931	D	0.642031	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.59311	-0.7478	10	0.54805	T	0.06	.	8.4767	0.33018	0.0:0.6981:0.154:0.1479	.	77;77	P23470-2;P23470	.;PTPRG_HUMAN	R	77	ENSP00000418112:S77R;ENSP00000295874:S77R	ENSP00000295874:S77R	S	+	3	2	PTPRG	61950379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.289000	0.33307	2.650000	0.89964	0.655000	0.94253	AGC	-	superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase		0.493	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	protein_coding	OTTHUMT00000351674.1	C	NM_002841		61950379	+1	no_errors	NM_002841	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
HTR1A	3350	genome.wustl.edu	37	5	63256709	63256709	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr5:63256709C>T	ENST00000323865.3	-	1	1071	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	280					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGCCTCACCGCGCCATTGGCG	0.662																																																0			5											47.0	44.0	45.0					5																	63256709		2203	4300	6503	63292465	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.838G>A	5.37:g.63256709C>T	ENSP00000316244:p.Ala280Thr		63292465	Q6LAE7	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A280T	ENST00000323865.3	37	c.838	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589864	0.46214	.	.	ENSG00000178394	ENST00000323865	T	0.63096	-0.02	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.059916	0.64402	D	0.000004	T	0.70307	0.3209	L	0.49455	1.56	0.58432	D	0.999998	D	0.71674	0.998	P	0.61722	0.893	T	0.63139	-0.6704	10	0.13853	T	0.58	.	17.8521	0.88750	0.0:1.0:0.0:0.0	.	280	P08908	5HT1A_HUMAN	T	280	ENSP00000316244:A280T	ENSP00000316244:A280T	A	-	1	0	HTR1A	63292465	0.998000	0.40836	0.821000	0.32701	0.489000	0.33432	4.614000	0.61183	2.692000	0.91855	0.655000	0.94253	GCG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.662	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	protein_coding	OTTHUMT00000368397.1	C	NM_000524		63292465	-1	no_errors	NM_000524	genbank	human	validated	54_36p	missense	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64428310	64428310	+	Silent	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr14:64428310C>T	ENST00000344113.4	+	9	1067	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SYNE2_ENST00000358025.3_Silent_p.S285S|SYNE2_ENST00000554584.1_Silent_p.S285S|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	285	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCAGTATTCCAAAGATGCCC	0.393																																																0			14											149.0	134.0	139.0					14																	64428310		1929	4136	6065	63498063	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.855C>T	14.37:g.64428310C>T			63498063	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH	p.S285	ENST00000344113.4	37	c.855	CCDS41963.1	14																																																																																			-	HMMPfam_CH		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	C	NM_182914		63498063	+1	no_errors	NM_182914	genbank	human	validated	54_36p	silent	SNP	0.904	T
FAM155B	27112	genome.wustl.edu	37	X	68748887	68748887	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chrX:68748887G>A	ENST00000252338.4	+	2	955	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	305						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACCCAGCAGGAATGCCAGCG	0.597																																																0			X											58.0	44.0	49.0					X																	68748887		2203	4300	6503	68665612	SO:0001583	missense	27112			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.913G>A	X.37:g.68748887G>A	ENSP00000252338:p.Glu305Lys		68665612	B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	NULL	p.E305K	ENST00000252338.4	37	c.913	CCDS35317.1	X	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294363	0.40594	.	.	ENSG00000130054	ENST00000252338	T	0.11821	2.74	5.07	2.99	0.34606	.	0.381500	0.23624	N	0.046220	T	0.06005	0.0156	N	0.14661	0.345	0.29623	N	0.846048	P	0.34587	0.458	B	0.31869	0.137	T	0.15838	-1.0423	10	0.22109	T	0.4	-5.6724	4.9746	0.14135	0.1294:0.3807:0.4899:0.0	.	305	O75949-2	.	K	305	ENSP00000252338:E305K	ENSP00000252338:E305K	E	+	1	0	FAM155B	68665612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.276000	0.43408	2.092000	0.63282	0.523000	0.50628	GAA	-	NULL		0.597	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	protein_coding	OTTHUMT00000057037.1	G	NM_015686		68665612	+1	no_errors	NM_015686	genbank	human	validated	54_36p	missense	SNP	0.996	A
ARID3B	10620	genome.wustl.edu	37	15	74883752	74883752	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr15:74883752C>A	ENST00000346246.5	+	6	1373	c.1142C>A	c.(1141-1143)tCc>tAc	p.S381Y		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	381						nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.S381F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCTCGGATATCCCCAGCAACC	0.597																																																1	Substitution - Missense(1)	NS(1)	15											55.0	60.0	58.0					15																	74883752		2197	4296	6493	72670805	SO:0001583	missense	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1142C>A	15.37:g.74883752C>A	ENSP00000343126:p.Ser381Tyr		72670805	O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501	p.S381Y	ENST00000346246.5	37	c.1142	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966500	0.92855	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.50548	0.74	5.42	5.42	0.78866	.	1.013720	0.07851	N	0.964575	T	0.63010	0.2475	L	0.54323	1.7	0.47621	D	0.999479	P;P;D	0.54047	0.956;0.924;0.964	P;B;P	0.53593	0.459;0.44;0.73	T	0.58668	-0.7596	10	0.52906	T	0.07	-3.6286	19.2305	0.93836	0.0:1.0:0.0:0.0	.	381;381;381	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	Y	381	ENSP00000343126:S381Y	ENSP00000343126:S381Y	S	+	2	0	ARID3B	72670805	0.187000	0.23238	0.935000	0.37517	0.988000	0.76386	4.355000	0.59424	2.549000	0.85964	0.655000	0.94253	TCC	-	NULL		0.597	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	protein_coding	OTTHUMT00000280688.2	C	NM_006465		72670805	+1	no_errors	NM_006465	genbank	human	reviewed	54_36p	missense	SNP	0.857	A
VPS37D	155382	genome.wustl.edu	37	7	73085387	73085387	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr7:73085387C>A	ENST00000324941.4	+	4	571	c.437C>A	c.(436-438)gCc>gAc	p.A146D	VPS37D_ENST00000451519.1_Missense_Mutation_p.A61D	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGCCTGGAGGCCTTCCTGCCT	0.697																																																0			7											21.0	24.0	23.0					7																	73085387		2037	4162	6199	72723323	SO:0001583	missense	155382			AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"""Williams Beuren syndrome chromosome region 24"", ""vacuolar protein sorting 37D (yeast)"""	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.437C>A	7.37:g.73085387C>A	ENSP00000320416:p.Ala146Asp		72723323		Missense_Mutation	SNP	HMMPfam_Mod_r	p.A146D	ENST00000324941.4	37	c.437	CCDS43596.1	7	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026123	0.54683	.	.	ENSG00000176428	ENST00000324941;ENST00000451519	T;T	0.76186	-1.0;-1.0	4.18	4.18	0.49190	Modifier of rudimentary, Modr (2);	0.086068	0.45867	D	0.000335	T	0.68805	0.3041	N	0.04018	-0.295	0.37824	D	0.928472	D	0.65815	0.995	D	0.66602	0.945	T	0.77422	-0.2594	10	0.72032	D	0.01	.	11.8522	0.52417	0.0:1.0:0.0:0.0	.	146	Q86XT2	VP37D_HUMAN	D	146;61	ENSP00000320416:A146D;ENSP00000413337:A61D	ENSP00000320416:A146D	A	+	2	0	VPS37D	72723323	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	2.383000	0.44354	2.147000	0.66899	0.561000	0.74099	GCC	-	HMMPfam_Mod_r		0.697	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37D	protein_coding	OTTHUMT00000348064.1	C	NM_152560		72723323	+1	no_errors	NM_001077621	genbank	human	validated	54_36p	missense	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78225284	78225284	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr12:78225284G>A	ENST00000397909.2	+	1	216	c.43G>A	c.(43-45)Gtt>Att	p.V15I	NAV3_ENST00000228327.6_Missense_Mutation_p.V15I|NAV3_ENST00000266692.7_Missense_Mutation_p.V15I|NAV3_ENST00000536525.2_Missense_Mutation_p.V15I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	15						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAGCCAGCTGTTGGGTCAAA	0.458										HNSCC(70;0.22)																																						0			12											168.0	167.0	167.0					12																	78225284		1903	4119	6022	76749415	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.43G>A	12.37:g.78225284G>A	ENSP00000381007:p.Val15Ile		76749415	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382	p.V15I	ENST00000397909.2	37	c.43		12	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130086	0.56721	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.61742	0.08;1.62;1.61;1.62;1.52	5.54	5.54	0.83059	Calponin homology domain (1);	.	.	.	.	T	0.47525	0.1450	N	0.19112	0.55	0.80722	D	1	B;B	0.28971	0.147;0.229	B;B	0.35278	0.098;0.199	T	0.50474	-0.8824	9	0.62326	D	0.03	-12.8001	13.7432	0.62860	0.0736:0.0:0.9264:0.0	.	15;15	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	15	ENSP00000446628:V15I;ENSP00000446132:V15I;ENSP00000381007:V15I;ENSP00000228327:V15I;ENSP00000266692:V15I	ENSP00000228327:V15I	V	+	1	0	NAV3	76749415	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.105000	0.57797	2.615000	0.88500	0.655000	0.94253	GTT	-	superfamily_Calponin-homology domain CH-domain		0.458	NAV3-001	KNOWN	basic	protein_coding	NAV3	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		76749415	+1	no_errors	NM_014903	genbank	human	validated	54_36p	missense	SNP	1.000	A
TMPO	7112	genome.wustl.edu	37	12	98927404	98927404	+	Intron	SNP	A	A	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr12:98927404A>T	ENST00000556029.1	+	3	921				TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.M457L	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCCGAACTGATGTCTTCTTT	0.438																																																0			12											161.0	135.0	144.0					12																	98927404		2203	4300	6503	97451535	SO:0001627	intron_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1788A>T	12.37:g.98927404A>T			97451535	A2T926|Q14861	Missense_Mutation	SNP	HMMPfam_Thymopoietin,superfamily_LEM domain,HMMPfam_LEM,HMMSmart_SM00540	p.M457L	ENST00000556029.1	37	c.1369	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	A	0	-2.742814	0.00087	.	.	ENSG00000120802	ENST00000266732	T	0.25912	1.77	5.65	1.73	0.24493	.	0.378151	0.27927	N	0.017286	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	B	0.13145	0.007	B	0.12156	0.007	T	0.36841	-0.9731	10	0.07175	T	0.84	-2.1734	7.3004	0.26418	0.5923:0.3265:0.0812:0.0	.	457	P42166	LAP2A_HUMAN	L	457	ENSP00000266732:M457L	ENSP00000266732:M457L	M	+	1	0	TMPO	97451535	0.700000	0.27796	0.091000	0.20842	0.277000	0.26821	1.155000	0.31700	0.160000	0.19432	-1.334000	0.01262	ATG	-	NULL		0.438	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	protein_coding	OTTHUMT00000407973.2	A	NM_003276		97451535	+1	no_errors	NM_003276	genbank	human	provisional	54_36p	missense	SNP	0.038	T
CNGA3	1261	genome.wustl.edu	37	2	99013327	99013327	+	Missense_Mutation	SNP	C	C	T	rs201747279		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:99013327C>T	ENST00000272602.2	+	7	1733	c.1694C>T	c.(1693-1695)aCg>aTg	p.T565M	CNGA3_ENST00000393504.1_Missense_Mutation_p.T565M|CNGA3_ENST00000409937.1_Missense_Mutation_p.T569M|CNGA3_ENST00000436404.2_Missense_Mutation_p.T547M			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	565			T -> M (in ACHM2). {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:15712225}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AACCGCAGGACGGCCAACATC	0.587																																																0			2	GRCh37	CM014558	CNGA3	M		C	MET/THR,MET/THR	0,4406		0,0,2203	124.0	120.0	122.0		1640,1694	5.4	1.0	2		122	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CNGA3	NM_001079878.1,NM_001298.2	81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	547/677,565/695	99013327	2,13004	2203	4300	6503	98379759	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1694C>T	2.37:g.99013327C>T	ENSP00000272602:p.Thr565Met		98379759	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2	p.T565M	ENST00000272602.2	37	c.1694	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266669	0.80358	0.0	2.33E-4	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.42	5.42	0.78866	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97253	0.9102	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.966	D	0.97633	1.0143	10	0.87932	D	0	.	18.154	0.89686	0.0:1.0:0.0:0.0	.	569;547;565	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	M	565;547;565;569	ENSP00000377140:T565M;ENSP00000410070:T547M;ENSP00000272602:T565M;ENSP00000386761:T569M	ENSP00000272602:T565M	T	+	2	0	CNGA3	98379759	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	7.320000	0.79064	2.826000	0.97356	0.563000	0.77884	ACG	-	superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_2		0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	protein_coding	OTTHUMT00000252986.1	C	NM_001298		98379759	+1	no_errors	NM_001298	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
NALCN	259232	genome.wustl.edu	37	13	101721133	101721133	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr13:101721133G>C	ENST00000251127.6	-	38	4325	c.4244C>G	c.(4243-4245)aCa>aGa	p.T1415R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1415					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCACAGTCTGTTGCCCAGTA	0.403																																																0			13											83.0	74.0	77.0					13																	101721133		2203	4300	6503	100519134	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4244C>G	13.37:g.101721133G>C	ENSP00000251127:p.Thr1415Arg		100519134	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans	p.T1415R	ENST00000251127.6	37	c.4244	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412881	0.83340	.	.	ENSG00000102452	ENST00000251127	D	0.97831	-4.56	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.99360	1.0917	10	0.66056	D	0.02	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	1415	Q8IZF0	NALCN_HUMAN	R	1415	ENSP00000251127:T1415R	ENSP00000251127:T1415R	T	-	2	0	NALCN	100519134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.388000	0.97237	2.746000	0.94184	0.655000	0.94253	ACA	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.403	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	protein_coding	OTTHUMT00000045663.2	G	NM_052867		100519134	-1	no_errors	NM_052867	genbank	human	validated	54_36p	missense	SNP	1.000	C
NIPSNAP3A	25934	genome.wustl.edu	37	9	107521369	107521369	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr9:107521369A>T	ENST00000374767.4	+	5	689	c.584A>T	c.(583-585)cAt>cTt	p.H195L	NIPSNAP3A_ENST00000471001.1_3'UTR	NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	195						cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TCTGCAGTTCATGTTCTTTGG	0.388																																																0			9											106.0	93.0	97.0					9																	107521369		2203	4300	6503	106561190	SO:0001583	missense	25934			BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.584A>T	9.37:g.107521369A>T	ENSP00000363899:p.His195Leu		106561190	A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	HMMPfam_NIPSNAP	p.H195L	ENST00000374767.4	37	c.584	CCDS6760.1	9	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809144	0.70797	.	.	ENSG00000136783	ENST00000374767	T	0.51817	0.69	4.11	4.11	0.48088	Dimeric alpha-beta barrel (1);	0.099482	0.64402	D	0.000002	T	0.56321	0.1977	M	0.83852	2.665	0.58432	D	0.999996	P;P	0.44281	0.831;0.831	B;P	0.48425	0.438;0.577	T	0.58323	-0.7656	10	0.11485	T	0.65	.	13.543	0.61686	1.0:0.0:0.0:0.0	.	195;195	B4DW81;Q9UFN0	.;NPS3A_HUMAN	L	195	ENSP00000363899:H195L	ENSP00000363899:H195L	H	+	2	0	NIPSNAP3A	106561190	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	8.005000	0.88553	1.861000	0.53984	0.482000	0.46254	CAT	-	HMMPfam_NIPSNAP		0.388	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP3A	protein_coding	OTTHUMT00000053484.1	A	NM_015469		106561190	+1	no_errors	NM_015469	genbank	human	provisional	54_36p	missense	SNP	1.000	T
CHAMP1	283489	genome.wustl.edu	37	13	115091623	115091623	+	Missense_Mutation	SNP	G	G	C	rs376247811		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr13:115091623G>C	ENST00000361283.1	+	3	2615	c.2306G>C	c.(2305-2307)cGt>cCt	p.R769P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	769	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R769L(1)									AAATGTCCACGTTGTAATTTT	0.363																																																1	Substitution - Missense(1)	lung(1)	13											53.0	56.0	55.0					13																	115091623		2203	4300	6503	114109725	SO:0001583	missense	283489			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.2306G>C	13.37:g.115091623G>C	ENSP00000354730:p.Arg769Pro		114109725	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.R769P	ENST00000361283.1	37	c.2306	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	g	15.56	2.869484	0.51588	.	.	ENSG00000198824	ENST00000361283	T	0.42513	0.97	5.81	4.96	0.65561	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000010	T	0.51024	0.1650	L	0.50333	1.59	0.39297	D	0.964844	D	0.56035	0.974	P	0.57620	0.824	T	0.48043	-0.9069	9	.	.	.	-7.5168	12.5339	0.56131	0.1313:0.0:0.8687:0.0	.	769	Q96JM3	ZN828_HUMAN	P	769	ENSP00000354730:R769P	.	R	+	2	0	ZNF828	114109725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.691000	0.47010	2.746000	0.94184	0.655000	0.94253	CGT	-	HMMSmart_SM00355		0.363	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF828	protein_coding	OTTHUMT00000045977.2	G	NM_032436		114109725	+1	no_errors	NM_032436	genbank	human	provisional	54_36p	missense	SNP	1.000	C
KCND2	3751	genome.wustl.edu	37	7	120372975	120372975	+	Silent	SNP	A	A	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr7:120372975A>C	ENST00000331113.4	+	2	2099	c.1134A>C	c.(1132-1134)ccA>ccC	p.P378P		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	378					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ACATGGTGCCAAAAACCATAG	0.373																																																0			7											148.0	135.0	139.0					7																	120372975		2203	4300	6503	120160211	SO:0001819	synonymous_variant	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1134A>C	7.37:g.120372975A>C			120160211	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans	p.P378	ENST00000331113.4	37	c.1134	CCDS5776.1	7																																																																																			-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.373	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	protein_coding	OTTHUMT00000346996.1	A	NM_012281		120160211	+1	no_errors	NM_012281	genbank	human	reviewed	54_36p	silent	SNP	0.989	C
ALDH1L1	10840	genome.wustl.edu	37	3	125854451	125854451	+	Missense_Mutation	SNP	C	C	T	rs369044554		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:125854451C>T	ENST00000393434.2	-	12	1748	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	467	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGGCTGCGGCCACTGCC	0.602																																																0			3											141.0	110.0	121.0					3																	125854451		2203	4300	6503	127337141	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1399G>A	3.37:g.125854451C>T	ENSP00000377083:p.Ala467Thr		127337141	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	PatternScan_PHOSPHOPANTETHEINE,HMMPfam_Formyl_trans_N,superfamily_formyl_transf,PatternScan_GART,superfamily_FMT_C_like,HMMPfam_Formyl_trans_C,superfamily_ACP_like,superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS	p.A467T	ENST00000393434.2	37	c.1399	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882415	0.33255	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.16	3.29	0.37713	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.200686	0.40640	N	0.001053	D	0.82903	0.5138	M	0.88031	2.925	0.80722	D	1	P;P;B	0.52577	0.954;0.592;0.363	B;B;B	0.44085	0.44;0.244;0.1	D	0.84958	0.0875	10	0.72032	D	0.01	.	10.254	0.43385	0.0:0.9007:0.0:0.0993	.	366;519;467	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	T	477;467;366;467;467	ENSP00000273450:A477T;ENSP00000420293:A467T;ENSP00000395881:A366T;ENSP00000377083:A467T;ENSP00000377081:A467T	ENSP00000273450:A477T	A	-	1	0	ALDH1L1	127337141	0.998000	0.40836	0.351000	0.25721	0.004000	0.04260	3.988000	0.56951	1.125000	0.41998	-0.368000	0.07277	GCA	-	superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh		0.602	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	protein_coding	OTTHUMT00000354391.1	C	NM_012190		127337141	-1	no_errors	NM_012190	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MKI67	4288	genome.wustl.edu	37	10	129904502	129904502	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr10:129904502C>T	ENST00000368654.3	-	13	5977	c.5602G>A	c.(5602-5604)Gac>Aac	p.D1868N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1508N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1868	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTGGGGTGTCCGCTGGGTCT	0.463																																																0			10											246.0	253.0	251.0					10																	129904502		2203	4300	6503	129794492	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5602G>A	10.37:g.129904502C>T	ENSP00000357643:p.Asp1868Asn		129794492	Q5VWH2	Missense_Mutation	SNP	superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMPfam_K167R	p.D1868N	ENST00000368654.3	37	c.5602	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	1.283	-0.609707	0.03690	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02421	4.3;4.3	3.13	-5.2	0.02823	.	1.540700	0.04453	N	0.372840	T	0.01627	0.0052	N	0.20766	0.605	0.09310	N	1	B;B;B	0.28713	0.006;0.22;0.145	B;B;B	0.25140	0.005;0.058;0.032	T	0.46414	-0.9193	10	0.13853	T	0.58	.	2.635	0.04955	0.1459:0.4675:0.1706:0.216	.	1867;1508;1868	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	1868;1508;1867	ENSP00000357643:D1868N;ENSP00000357642:D1508N	ENSP00000357642:D1508N	D	-	1	0	MKI67	129794492	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.476000	0.02333	-0.733000	0.04850	-0.291000	0.09656	GAC	-	HMMPfam_K167R		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	C	NM_002417		129794492	-1	no_errors	NM_002417	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
FAM127C	441518	genome.wustl.edu	37	X	134156168	134156168	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chrX:134156168C>G	ENST00000391440.1	-	1	391	c.322G>C	c.(322-324)Gag>Cag	p.E108Q		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	108										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					TCGTCCTCCTCCCATCCAAAG	0.662																																																0			X											40.0	42.0	41.0					X																	134156168		2189	4281	6470	133983834	SO:0001583	missense	441518			BC048268	CCDS43996.1	Xq26.3	2014-05-16			ENSG00000212747	ENSG00000212747			33156	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078173		Approved	MAR8B, CXX1c	uc004eyc.1	Q17RB0	OTTHUMG00000022464	ENST00000391440.1:c.322G>C	X.37:g.134156168C>G	ENSP00000375268:p.Glu108Gln		133983834		Missense_Mutation	SNP	NULL	p.E108Q	ENST00000391440.1	37	c.322	CCDS43996.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.05|10.05	1.244965|1.244965	0.22796|0.22796	.|.	.|.	ENSG00000212747|ENSG00000212747	ENST00000391440|ENST00000538706	T|.	0.32515|.	1.45|.	2.35|2.35	2.35|2.35	0.29111|0.29111	.|.	0.776386|.	0.10313|.	U|.	0.689662|.	T|T	0.25938|0.25938	0.0632|0.0632	N|N	0.16478|0.16478	0.41|0.41	0.26094|0.26094	N|N	0.980905|0.980905	B|.	0.14805|.	0.011|.	B|.	0.14023|.	0.01|.	T|T	0.21075|0.21075	-1.0256|-1.0256	10|6	0.56958|0.87932	D|D	0.05|0	.|.	7.4608|7.4608	0.27294|0.27294	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|.	Q17RB0|.	F127C_HUMAN|.	Q|A	108|2	ENSP00000375268:E108Q|.	ENSP00000375268:E108Q|ENSP00000442860:G2A	E|G	-|-	1|2	0|0	FAM127C|FAM127C	133983834|133983834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.834000|1.834000	0.39171|0.39171	1.455000|1.455000	0.47813|0.47813	0.436000|0.436000	0.28706|0.28706	GAG|GGA	-	NULL		0.662	FAM127C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127C	protein_coding	OTTHUMT00000058389.2	C	NM_001078173		133983834	-1	no_errors	NM_001078173	genbank	human	validated	54_36p	missense	SNP	0.999	G
FAM53C	51307	genome.wustl.edu	37	5	137681226	137681226	+	Silent	SNP	T	T	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr5:137681226T>G	ENST00000239906.5	+	4	1277	c.849T>G	c.(847-849)acT>acG	p.T283T	FAM53C_ENST00000434981.2_Silent_p.T283T|FAM53C_ENST00000513056.1_Missense_Mutation_p.L93R|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	283										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCGCAAAACTGGGGTCAAGC	0.627																																																0			5											49.0	59.0	56.0					5																	137681226		2203	4300	6503	137709125	SO:0001819	synonymous_variant	51307			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.849T>G	5.37:g.137681226T>G			137709125	B2RDJ5|D3DQB9	Silent	SNP	NULL	p.T283	ENST00000239906.5	37	c.849	CCDS4204.1	5	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306346	0.23736	.	.	ENSG00000120709	ENST00000513056	T	0.55760	0.5	5.55	4.4	0.53042	.	.	.	.	.	T	0.68210	0.2976	.	.	.	0.25298	N	0.989306	D	0.71674	0.998	D	0.65443	0.935	T	0.59936	-0.7360	8	0.87932	D	0	-1.1893	10.4863	0.44724	0.0:0.0765:0.0:0.9235	.	93	D6RE00	.	R	93	ENSP00000425154:L93R	ENSP00000425154:L93R	L	+	2	0	FAM53C	137709125	0.032000	0.19561	1.000000	0.80357	0.999000	0.98932	0.139000	0.16036	1.135000	0.42183	0.533000	0.62120	CTG	-	NULL		0.627	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	protein_coding	OTTHUMT00000251278.2	T	NM_016605		137709125	+1	no_errors	NM_016605	genbank	human	validated	54_36p	silent	SNP	1.000	G
TMEM139	135932	genome.wustl.edu	37	7	142983680	142983680	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr7:142983680G>A	ENST00000359333.3	+	3	922	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409244.1_Missense_Mutation_p.A137T|TMEM139_ENST00000410004.1_Missense_Mutation_p.A137T|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409102.1_Missense_Mutation_p.A137T|AC073342.12_ENST00000427392.1_RNA|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409541.1_Missense_Mutation_p.A137T	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	137						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					GTCCAGGAGAGCCAAACTGGA	0.617																																																0			7											75.0	77.0	76.0					7																	142983680		2203	4300	6503	142693802	SO:0001583	missense	135932			AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.409G>A	7.37:g.142983680G>A	ENSP00000352284:p.Ala137Thr		142693802	B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	NULL	p.A137T	ENST00000359333.3	37	c.409	CCDS5878.1	7	.	.	.	.	.	.	.	.	.	.	G	7.058	0.565839	0.13560	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.1	1.18	0.20946	.	0.944877	0.08882	N	0.879899	T	0.41259	0.1151	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.34030	-0.9845	9	0.36615	T	0.2	0.0017	5.6598	0.17662	0.1723:0.3062:0.5215:0.0	.	137	Q8IV31	TM139_HUMAN	T	137	.	ENSP00000352284:A137T	A	+	1	0	TMEM139	142693802	0.108000	0.22018	0.003000	0.11579	0.007000	0.05969	0.719000	0.25881	0.017000	0.15025	-0.261000	0.10672	GCC	-	NULL		0.617	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM139	protein_coding	OTTHUMT00000327145.1	G	NM_153345		142693802	+1	no_errors	NM_153345	genbank	human	provisional	54_36p	missense	SNP	0.077	A
LINC00894	100272228	genome.wustl.edu	37	X	149284887	149284887	+	RNA	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chrX:149284887C>T	ENST00000449111.1	+	0	2830									long intergenic non-protein coding RNA 894																		AGTACCTGGACCATCACTTAT	0.428																																																0			X																																								149035545			643015					Xq28	2013-05-17			ENSG00000235703	ENSG00000235703		"""Long non-coding RNAs"""	48579	non-coding RNA	RNA, long non-coding							Standard	NR_027456		Approved				OTTHUMG00000022638		X.37:g.149284887C>T			149035545		RNA	SNP	-	NULL	ENST00000449111.1	37	NULL		X																																																																																			-	-		0.428	LINC00894-001	KNOWN	basic	antisense	LOC643015	antisense	OTTHUMT00000058733.2	C			149035545	+1	pseudogene	XR_016273	genbank	human	model	54_36p	rna	SNP	0.411	T
GIMAP2	26157	genome.wustl.edu	37	7	150389657	150389657	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr7:150389657G>C	ENST00000223293.5	+	3	377	c.283G>C	c.(283-285)Gtg>Ctg	p.V95L		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	95	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		gtacaaagaggtgcagaggtg	0.522																																																0			7											66.0	62.0	64.0					7																	150389657		2203	4300	6503	150020590	SO:0001583	missense	26157			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.283G>C	7.37:g.150389657G>C	ENSP00000223293:p.Val95Leu		150020590	Q96L25	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_AIG1	p.V95L	ENST00000223293.5	37	c.283	CCDS5905.1	7	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307488	0.23821	.	.	ENSG00000106560	ENST00000223293	T	0.06768	3.26	3.41	1.55	0.23275	AIG1 (1);	0.384828	0.22352	N	0.061193	T	0.05914	0.0154	L	0.31420	0.93	0.09310	N	0.99999	B	0.27765	0.188	B	0.28305	0.088	T	0.31668	-0.9935	10	0.52906	T	0.07	.	5.4996	0.16821	0.2702:0.0:0.7298:0.0	.	95	Q9UG22	GIMA2_HUMAN	L	95	ENSP00000223293:V95L	ENSP00000223293:V95L	V	+	1	0	GIMAP2	150020590	0.021000	0.18746	0.170000	0.22879	0.908000	0.53690	0.238000	0.18004	0.274000	0.22072	0.609000	0.83330	GTG	-	superfamily_SSF52540,HMMPfam_AIG1		0.522	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	protein_coding	OTTHUMT00000348948.1	G	NM_015660		150020590	+1	no_errors	NM_015660	genbank	human	reviewed	54_36p	missense	SNP	0.974	C
GABRE	2564	genome.wustl.edu	37	X	151131085	151131085	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chrX:151131085T>A	ENST00000370328.3	-	4	426	c.373A>T	c.(373-375)Acc>Tcc	p.T125S	GABRE_ENST00000370325.1_Missense_Mutation_p.T125S|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	125					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGTACCAGGTCTGGGAGAAG	0.458																																																0			X											168.0	133.0	145.0					X																	151131085		2203	4300	6503	150881741	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.373A>T	X.37:g.151131085T>A	ENSP00000359353:p.Thr125Ser		150881741	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.T125S	ENST00000370328.3	37	c.373	CCDS14703.1	X	.	.	.	.	.	.	.	.	.	.	T	10.32	1.318996	0.23994	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79247	-1.25;-1.25	5.6	4.44	0.53790	Neurotransmitter-gated ion-channel ligand-binding (3);	0.396600	0.20850	N	0.084552	T	0.66839	0.2830	N	0.25332	0.735	0.80722	D	1	B	0.32283	0.362	B	0.38225	0.268	T	0.58544	-0.7618	10	0.26408	T	0.33	.	8.7093	0.34374	0.0:0.0908:0.0:0.9092	.	125	P78334	GBRE_HUMAN	S	125	ENSP00000359353:T125S;ENSP00000359350:T125S	ENSP00000359350:T125S	T	-	1	0	GABRE	150881741	1.000000	0.71417	0.964000	0.40570	0.339000	0.28857	4.258000	0.58822	0.762000	0.33152	0.486000	0.48141	ACC	-	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD		0.458	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	protein_coding	OTTHUMT00000060903.1	T	NM_004961, NM_021990, NM_021984		150881741	-1	no_errors	NM_004961	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GRIA1	2890	genome.wustl.edu	37	5	153144084	153144084	+	Silent	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr5:153144084G>A	ENST00000285900.5	+	12	2257	c.1914G>A	c.(1912-1914)ctG>ctA	p.L638L	GRIA1_ENST00000448073.4_Silent_p.L648L|GRIA1_ENST00000521843.2_Silent_p.L569L|GRIA1_ENST00000518783.1_Silent_p.L648L|GRIA1_ENST00000340592.5_Silent_p.L638L|GRIA1_ENST00000518142.1_Silent_p.L558L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	638					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCGCCTTCCTGACCGTGGAGA	0.547																																																0			5											122.0	103.0	109.0					5																	153144084		2203	4300	6503	153124277	SO:0001819	synonymous_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1914G>A	5.37:g.153144084G>A			153124277	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.L638	ENST00000285900.5	37	c.1914	CCDS4322.1	5																																																																																			-	HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan		0.547	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	protein_coding	OTTHUMT00000252456.3	G			153124277	+1	no_errors	NM_000827	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
ASH1L	55870	genome.wustl.edu	37	1	155324364	155324364	+	Silent	SNP	T	T	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:155324364T>C	ENST00000368346.3	-	16	7767	c.7128A>G	c.(7126-7128)caA>caG	p.Q2376Q	ASH1L_ENST00000392403.3_Silent_p.Q2371Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2376					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTGTTTTTGACGAATCT	0.378																																																0			1											220.0	192.0	202.0					1																	155324364		2203	4300	6503	153590988	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7128A>G	1.37:g.155324364T>C			153590988	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	HMMSmart_SM00384,HMMPfam_AT_hook,superfamily_SET domain,HMMSmart_SM00570,HMMPfam_SET,HMMSmart_SM00317,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_BAH,HMMSmart_SM00439	p.Q2371	ENST00000368346.3	37	c.7113		1																																																																																			-	NULL		0.378	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	T	NM_018489		153590988	-1	no_errors	NM_018489	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
GUCY1A3	2982	genome.wustl.edu	37	4	156632014	156632014	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr4:156632014G>A	ENST00000296518.7	+	6	906	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V233M|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V233M|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V233M|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V233M|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V233M			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	233					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGAAGTGGAAGTGTCGTTAAT	0.458																																																0			4											124.0	118.0	120.0					4																	156632014		2203	4300	6503	156851464	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.697G>A	4.37:g.156632014G>A	ENSP00000296518:p.Val233Met		156851464	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	HMMPfam_HNOBA,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1	p.V233M	ENST00000296518.7	37	c.697	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616777	0.66672	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.74	5.74	0.90152	Heme-NO binding (1);	0.000000	0.56097	D	0.000021	T	0.71213	0.3313	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67413	-0.5677	10	0.36615	T	0.2	.	20.2908	0.98543	0.0:0.0:1.0:0.0	.	233;233;233	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	M	233	ENSP00000424361:V233M;ENSP00000421493:V233M;ENSP00000426968:V233M;ENSP00000412201:V233M;ENSP00000296518:V233M;ENSP00000426040:V233M	ENSP00000296518:V233M	V	+	1	0	GUCY1A3	156851464	1.000000	0.71417	0.905000	0.35620	0.139000	0.21198	7.257000	0.78362	2.861000	0.98227	0.643000	0.83706	GTG	-	NULL		0.458	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	protein_coding	OTTHUMT00000365786.2	G			156851464	+1	no_errors	NM_000856	genbank	human	validated	54_36p	missense	SNP	0.983	A
PKP4	8502	genome.wustl.edu	37	2	159433807	159433807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:159433807C>T	ENST00000389759.3	+	3	269	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PKP4_ENST00000389757.3_Nonsense_Mutation_p.R53*	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	53					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCGACTCACCCGAGAACTGGA	0.468										HNSCC(62;0.18)																																						0			2											83.0	74.0	77.0					2																	159433807		2203	4300	6503	159142053	SO:0001587	stop_gained	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.157C>T	2.37:g.159433807C>T	ENSP00000374409:p.Arg53*		159142053	Q86W91	Nonsense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185	p.R53*	ENST00000389759.3	37	c.157	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.086662	0.98055	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	.	.	.	6.16	2.91	0.33838	.	0.175388	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.448	14.5523	0.68075	0.7279:0.2721:0.0:0.0	.	.	.	.	X	53	.	ENSP00000374407:R53X	R	+	1	2	PKP4	159142053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.544000	0.53640	0.770000	0.33336	0.650000	0.86243	CGA	-	NULL		0.468	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	protein_coding	OTTHUMT00000333250.1	C			159142053	+1	no_errors	NM_003628	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
AXDND1	126859	genome.wustl.edu	37	1	179335673	179335673	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:179335673C>T	ENST00000367618.3	+	2	416	c.29C>T	c.(28-30)cCg>cTg	p.P10L	AXDND1_ENST00000457238.2_Missense_Mutation_p.P10L|RN7SL374P_ENST00000577343.1_RNA|AXDND1_ENST00000461179.2_Intron	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	10										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CCCTCCACCCCGCTAAACTCT	0.403																																																0			1											89.0	85.0	86.0					1																	179335673		2203	4300	6503	177602296	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.29C>T	1.37:g.179335673C>T	ENSP00000356590:p.Pro10Leu		177602296	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	HMMPfam_Ax_dynein_light	p.P10L	ENST00000367618.3	37	c.29	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	C	5.679	0.309771	0.10733	.	.	ENSG00000162779	ENST00000367618;ENST00000508229;ENST00000457238;ENST00000508285	T;T	0.48201	2.14;0.82	3.49	1.2	0.21068	.	1.144270	0.06891	N	0.804221	T	0.19327	0.0464	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23691	-1.0181	10	0.10377	T	0.69	4.1529	5.2049	0.15285	0.0:0.5842:0.0:0.4158	.	10	Q5T1B0	AXDN1_HUMAN	L	10	ENSP00000356590:P10L;ENSP00000416712:P10L	ENSP00000356590:P10L	P	+	2	0	AXDND1	177602296	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	0.216000	0.17585	0.122000	0.18314	0.297000	0.19635	CCG	-	NULL		0.403	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf125	protein_coding	OTTHUMT00000085312.1	C	NM_144696		177602296	+1	no_errors	NM_144696	genbank	human	validated	54_36p	missense	SNP	0.000	T
CEP350	9857	genome.wustl.edu	37	1	180061940	180061940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:180061940G>T	ENST00000367607.3	+	34	7118	c.6700G>T	c.(6700-6702)Gaa>Taa	p.E2234*	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2234					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTTCTCAAAGAATTAAATGC	0.333																																																0			1											20.0	20.0	20.0					1																	180061940		2195	4294	6489	178328563	SO:0001587	stop_gained	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6700G>T	1.37:g.180061940G>T	ENSP00000356579:p.Glu2234*		178328563	O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1	p.E2233*	ENST00000367607.3	37	c.6697	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.150812|5.150812	0.94645|0.94645	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	.|.	.|.	.|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.162995|.	0.28630|.	N|.	0.014670|.	.|T	.|0.72431	.|0.3459	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73332	.|-0.4016	.|3	.|.	.|.	.|.	.|.	16.862|16.862	0.86021|0.86021	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2234|408	.|.	.|.	E|R	+|+	1|2	0|0	CEP350|CEP350	178328563|178328563	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.833000|0.833000	0.47200|0.47200	5.865000|5.865000	0.69583|0.69583	2.422000|2.422000	0.82143|0.82143	0.655000|0.655000	0.94253|0.94253	GAA|AGA	-	NULL		0.333	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	protein_coding	OTTHUMT00000085315.2	G	NM_014810		178328563	+1	no_errors	NM_014810	genbank	human	reviewed	54_36p	nonsense	SNP	0.926	T
TTN	7273	genome.wustl.edu	37	2	179502115	179502115	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:179502115C>G	ENST00000591111.1	-	174	36209	c.35985G>C	c.(35983-35985)aaG>aaC	p.K11995N	TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K4696N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K4571N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K4763N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K13636N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K11068N			Q8WZ42	TITIN_HUMAN	titin	11995	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCTTTTGGCTTGGCAGCCT	0.338																																																0			2											49.0	50.0	50.0					2																	179502115		1809	4072	5881	179210360	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35985G>C	2.37:g.179502115C>G	ENSP00000465570:p.Lys11995Asn		179210360	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_Titin_Z,PatternScan_IG_MHC,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1	p.K4765N	ENST00000591111.1	37	c.14295		2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824654	0.32237	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70516	-0.49;-0.06;-0.08;-0.1	5.4	1.03	0.20045	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.70254	0.3203	L	0.53249	1.67	0.31210	N	0.698728	D;D;D;D	0.55385	0.971;0.971;0.971;0.971	P;P;P;P	0.49012	0.598;0.598;0.598;0.598	T	0.71971	-0.4431	9	0.87932	D	0	.	11.2836	0.49210	0.0:0.7058:0.0:0.2941	.	4571;4696;4763;11995	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	11068;4571;4763;4696;4571	ENSP00000343764:K11068N;ENSP00000434586:K4571N;ENSP00000340554:K4763N;ENSP00000352154:K4696N	ENSP00000340554:K4763N	K	-	3	2	TTN	179210360	0.980000	0.34600	0.997000	0.53966	0.945000	0.59286	0.014000	0.13333	0.259000	0.21709	-0.266000	0.10368	AAG	-	NULL		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179210360	-1	no_stop_codon	ENST00000286104	ensembl	human	known	54_36p	missense	SNP	0.997	G
NCF2	4688	genome.wustl.edu	37	1	183532573	183532573	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:183532573G>C	ENST00000367535.3	-	12	1425	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V	NCF2_ENST00000418089.1_Missense_Mutation_p.L311V|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367536.1_Missense_Mutation_p.L392V|NCF2_ENST00000413720.1_Missense_Mutation_p.L347V	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	392	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GCTCACCTCAGCTTAGTGTGT	0.557																																																0			1											136.0	142.0	140.0					1																	183532573		2203	4300	6503	181799196	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1174C>G	1.37:g.183532573G>C	ENSP00000356505:p.Leu392Val		181799196	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF54277,HMMPfam_PB1,HMMSmart_PB1	p.L392V	ENST00000367535.3	37	c.1174	CCDS1356.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507710	0.85282	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.74	5.74	0.90152	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	M	0.83483	2.645	0.53688	D	0.999975	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.84974	0.0884	10	0.62326	D	0.03	.	18.1482	0.89665	0.0:0.0:1.0:0.0	.	311;347;392	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	V	392;464;347;311;392;43;131	ENSP00000356506:L392V;ENSP00000399294:L347V;ENSP00000407217:L311V;ENSP00000356505:L392V;ENSP00000397228:L43V;ENSP00000406198:L131V	ENSP00000356505:L392V	L	-	1	2	NCF2	181799196	1.000000	0.71417	0.970000	0.41538	0.889000	0.51656	6.438000	0.73426	2.727000	0.93392	0.650000	0.86243	CTG	-	superfamily_SSF54277,HMMPfam_PB1,HMMSmart_PB1		0.557	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	protein_coding	OTTHUMT00000085483.1	G	NM_000433		181799196	-1	no_errors	NM_000433	genbank	human	reviewed	54_36p	missense	SNP	0.988	C
USH2A	7399	genome.wustl.edu	37	1	216270450	216270450	+	Missense_Mutation	SNP	C	C	T	rs552928943		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:216270450C>T	ENST00000307340.3	-	22	5119	c.4733G>A	c.(4732-4734)cGt>cAt	p.R1578H	USH2A_ENST00000366943.2_Missense_Mutation_p.R1578H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1578	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAATAAAGACGTCCCTTCTT	0.373										HNSCC(13;0.011)																																						0			1											63.0	62.0	62.0					1																	216270450		2203	4300	6503	214337073	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4733G>A	1.37:g.216270450C>T	ENSP00000305941:p.Arg1578His		214337073	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2	p.R1578H	ENST00000307340.3	37	c.4733	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274609	0.59649	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78246	-1.16;-1.16	6.06	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.148676	0.31246	N	0.007990	T	0.75339	0.3836	L	0.58810	1.83	0.44789	D	0.997795	B	0.24368	0.102	B	0.23419	0.046	T	0.72711	-0.4211	10	0.48119	T	0.1	.	15.4089	0.74902	0.0:0.9337:0.0:0.0663	.	1578	O75445	USH2A_HUMAN	H	1578	ENSP00000305941:R1578H;ENSP00000355910:R1578H	ENSP00000305941:R1578H	R	-	2	0	USH2A	214337073	0.977000	0.34250	0.859000	0.33776	0.987000	0.75469	2.424000	0.44714	1.576000	0.49790	0.655000	0.94253	CGT	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_Fibronectin type III,HMMSmart_SM00282,HMMPfam_Laminin_G_2		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	C	NM_007123		214337073	-1	no_errors	NM_206933	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
INPP5D	3635	genome.wustl.edu	37	2	234079715	234079715	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:234079715G>A	ENST00000359570.5	+	19	1870	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.E388K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E388K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	636					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTCAGAGGAGGAAGAAATCAC	0.473																																					NSCLC(82;1215 1426 16163 20348 41018)											0			2											66.0	67.0	67.0					2																	234079715		1895	4108	6003	233743778	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1870G>A	2.37:g.234079715G>A	ENSP00000352575:p.Glu624Lys		233743778	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF55550,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos	p.E592K	ENST00000359570.5	37	c.1774		2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648840	0.87958	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	4.34	4.34	0.51931	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.109437	0.64402	D	0.000010	D	0.89287	0.6672	.	.	.	0.54753	D	0.999982	D;D	0.89917	1.0;0.996	D;D	0.75020	0.985;0.949	D	0.90341	0.4359	9	0.52906	T	0.07	.	17.2149	0.86940	0.0:0.0:1.0:0.0	.	635;636	Q92835-2;Q92835	.;SHIP1_HUMAN	K	624;388;388;257;257;257	ENSP00000352575:E624K;ENSP00000407916:E388K;ENSP00000404610:E388K;ENSP00000400151:E257K;ENSP00000397421:E257K;ENSP00000405338:E257K	ENSP00000352575:E624K	E	+	1	0	INPP5D	233743778	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.184000	0.94893	2.142000	0.66516	0.561000	0.74099	GAA	-	superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos		0.473	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	protein_coding		G	NM_001017915		233743778	+1	no_errors	ENST00000359570	ensembl	human	known	54_36p	missense	SNP	1.000	A
RGS7	6000	genome.wustl.edu	37	1	240979637	240979637	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:240979637C>T	ENST00000407727.1	-	10	762	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	RGS7_ENST00000348120.2_Missense_Mutation_p.E202K|RGS7_ENST00000401882.1_Missense_Mutation_p.E202K|RGS7_ENST00000446183.2_Missense_Mutation_p.E171K|RGS7_ENST00000331110.7_Missense_Mutation_p.E229K|RGS7_ENST00000366565.1_Missense_Mutation_p.E255K|RGS7_ENST00000366563.1_Missense_Mutation_p.E255K|RGS7_ENST00000366564.1_Missense_Mutation_p.E255K|RGS7_ENST00000366562.4_Missense_Mutation_p.E255K			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	255	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AACTCATCTTCTGTTGGAGGT	0.358																																																0			1											281.0	253.0	263.0					1																	240979637		2203	4300	6503	239046260	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.763G>A	1.37:g.240979637C>T	ENSP00000384428:p.Glu255Lys		239046260	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	superfamily_SSF46785,HMMSmart_DEP,HMMPfam_DEP,superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS	p.E255K	ENST00000407727.1	37	c.763		1	.	.	.	.	.	.	.	.	.	.	C	9.089	1.001258	0.19121	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34	6.07	4.18	0.49190	G-protein gamma domain (3);	0.050576	0.85682	D	0.000000	T	0.03827	0.0108	N	0.00419	-1.52	0.49798	D	0.999826	B;B;B;B;B;B;B	0.15141	0.0;0.001;0.01;0.0;0.001;0.0;0.012	B;B;B;B;B;B;B	0.18871	0.006;0.013;0.013;0.002;0.013;0.001;0.023	T	0.30268	-0.9984	10	0.05833	T	0.94	-20.8448	9.7501	0.40470	0.0:0.6622:0.2686:0.0692	.	171;229;202;255;255;255;255	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	K	229;255;255;255;86;202;171;255;255;202	ENSP00000331485:E229K;ENSP00000355523:E255K;ENSP00000355522:E255K;ENSP00000355521:E255K;ENSP00000404399:E86K;ENSP00000341242:E202K;ENSP00000390138:E171K;ENSP00000355520:E255K;ENSP00000384428:E255K;ENSP00000385508:E202K	ENSP00000331485:E229K	E	-	1	0	RGS7	239046260	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.493000	0.45320	0.871000	0.35750	0.655000	0.94253	GAA	-	superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL		0.358	RGS7-204	KNOWN	basic	protein_coding	RGS7	protein_coding		C	NM_002924		239046260	-1	no_errors	NM_002924	genbank	human	validated	54_36p	missense	SNP	1.000	T
KIF18A	81930	genome.wustl.edu	37	11	28106228	28106228	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr11:28106228delG	ENST00000263181.6	-	7	1315	c.1025delC	c.(1024-1026)acafs	p.T342fs		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	342	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AGTGTTATATGTGTCATCGTA	0.373																																																0			11											129.0	127.0	128.0					11																	28106228		2202	4299	6501	28062804	SO:0001589	frameshift_variant	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1025delC	11.37:g.28106228delG	ENSP00000263181:p.Thr342fs		28062804	Q4VPE3|Q86VS5|Q9H0F3	Frame_Shift_Del	DEL	HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1	p.T342fs	ENST00000263181.6	37	c.1025	CCDS7867.1	11																																																																																			(deletion:cds_exon[28062755,28062931])	HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin		0.373	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	protein_coding	OTTHUMT00000388328.3	G	NM_031217		28062804	-1	no_errors	NM_031217	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000	-
IKZF2	22807	genome.wustl.edu	37	2	213872250	213872250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:213872250delT	ENST00000434687.1	-	9	1724	c.1415delA	c.(1414-1416)aagfs	p.K472fs	IKZF2_ENST00000374319.4_Frame_Shift_Del_p.K446fs|IKZF2_ENST00000451136.2_Frame_Shift_Del_p.K400fs|IKZF2_ENST00000374327.4_Frame_Shift_Del_p.K327fs|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000457361.1_Frame_Shift_Del_p.K472fs|IKZF2_ENST00000342002.2_Frame_Shift_Del_p.K478fs|IKZF2_ENST00000421754.2_Frame_Shift_Del_p.K398fs			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	472					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTGCTCACACTTGAAGGCCCT	0.502																																																0			2											183.0	174.0	177.0					2																	213872250		2203	4300	6503	213580495	SO:0001589	frameshift_variant	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1415delA	2.37:g.213872250delT	ENSP00000412869:p.Lys472fs		213580495	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Frame_Shift_Del	DEL	HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2	p.K472fs	ENST00000434687.1	37	c.1415	CCDS2395.1	2																																																																																			(deletion:cds_exon[213580329,213581053])	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355		0.502	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	protein_coding	OTTHUMT00000256593.3	T	NM_016260		213580495	-1	no_errors	NM_016260	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
IKZF2	22807	genome.wustl.edu	37	2	213872253	213872257	+	Frame_Shift_Del	DEL	AAGGC	AAGGC	-			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	AAGGC	AAGGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:213872253_213872257delAAGGC	ENST00000434687.1	-	9	1717_1721	c.1408_1412delGCCTT	c.(1408-1413)gccttcfs	p.AF470fs	IKZF2_ENST00000374319.4_Frame_Shift_Del_p.AF444fs|IKZF2_ENST00000451136.2_Frame_Shift_Del_p.AF398fs|IKZF2_ENST00000374327.4_Frame_Shift_Del_p.AF325fs|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000457361.1_Frame_Shift_Del_p.AF470fs|IKZF2_ENST00000342002.2_Frame_Shift_Del_p.AF476fs|IKZF2_ENST00000421754.2_Frame_Shift_Del_p.AF396fs			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	470					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTCACACTTGAAGGCCCTAATCTGT	0.493																																																0			2																																								213580502	SO:0001589	frameshift_variant	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1408_1412delGCCTT	2.37:g.213872253_213872257delAAGGC	ENSP00000412869:p.Ala470fs		213580498	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Frame_Shift_Del	DEL	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A470fs	ENST00000434687.1	37	c.1412_1408	CCDS2395.1	2																																																																																			(deletion:cds_exon[213580329,213581053])	superfamily_C2H2 and C2HC zinc fingers		0.493	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	protein_coding	OTTHUMT00000256593.3	AAGGC	NM_016260		213580502	-1	no_errors	NM_016260	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:0.998:1.000:1.000	-
