#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
CRIPAK	285464	genome.wustl.edu	37	4	1388790	1388790	+	Missense_Mutation	SNP	T	T	C	rs79415192		TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr4:1388790T>C	ENST00000324803.4	+	1	3451	c.491T>C	c.(490-492)gTg>gCg	p.V164A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	164					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V164A(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCGACGTGGAGTGCCCG	0.692																																																1	Substitution - Missense(1)	lung(1)	4											180.0	124.0	143.0					4																	1388790		2201	4281	6482	1378790	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.491T>C	4.37:g.1388790T>C	ENSP00000323978:p.Val164Ala		1378790	Q8NB03	Missense_Mutation	SNP	HMMSmart_PostSET	p.V164A	ENST00000324803.4	37	c.491	CCDS3349.1	4	.	.	.	.	.	.	.	.	.	.	t	1.148	-0.647432	0.03506	.	.	ENSG00000179979	ENST00000324803	T	0.24350	1.86	1.25	-2.49	0.06403	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20174	-1.0283	9	0.14252	T	0.57	.	0.8761	0.01224	0.1598:0.3215:0.2492:0.2695	.	164	Q8N1N5	CRPAK_HUMAN	A	164	ENSP00000323978:V164A	ENSP00000323978:V164A	V	+	2	0	CRIPAK	1378790	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.847000	0.04331	-2.974000	0.00285	-1.550000	0.00899	GTG	-	NULL		0.692	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	protein_coding	OTTHUMT00000241607.2	T	NM_175918		1378790	+1	no_errors	NM_175918	genbank	human	validated	54_36p	missense	SNP	0.000	C
CSMD1	64478	genome.wustl.edu	37	8	3081251	3081251	+	Splice_Site	SNP	C	C	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr8:3081251C>A	ENST00000520002.1	-	29	5042	c.4487G>T	c.(4486-4488)aGt>aTt	p.S1496I	CSMD1_ENST00000537824.1_Splice_Site_p.S1495I|CSMD1_ENST00000539096.1_Splice_Site_p.S1495I|CSMD1_ENST00000602723.1_Splice_Site_p.S1496I|CSMD1_ENST00000400186.3_Splice_Site_p.S1496I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Splice_Site_p.S1495I|CSMD1_ENST00000602557.1_Splice_Site_p.S1496I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1496	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGACGGTACCTTTTGAATAT	0.388																																																0			8											100.0	99.0	99.0					8																	3081251		1835	4076	5911	3068658	SO:0001630	splice_region_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4487+1G>T	8.37:g.3081251C>A			3068658	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032	p.K1496N	ENST00000520002.1	37	c.4488		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.24|11.24	1.581768|1.581768	0.28180|0.28180	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T|T;T;T;T;T	0.18338|0.19532	2.22|2.14;2.14;2.14;2.14;2.14	5.17|5.17	5.17|5.17	0.71159|0.71159	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43743|0.43743	0.1261|0.1261	L|L	0.54965|0.54965	1.715|1.715	0.58432|0.58432	D|D	0.999999|0.999999	.|D;B;P	.|0.76494	.|0.999;0.097;0.656	.|D;B;P	.|0.85130	.|0.997;0.058;0.465	T|T	0.11743|0.11743	-1.0575|-1.0575	6|9	.|.	.|.	.|.	.|.	19.0155|19.0155	0.92892|0.92892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1496;1496;1496	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	N|I	975|1496;1496;1358;1495;1495;1495	ENSP00000334828:K975N|ENSP00000383047:S1496I;ENSP00000430733:S1496I;ENSP00000441462:S1495I;ENSP00000446243:S1495I;ENSP00000441675:S1495I	.|.	K|S	-|-	3|2	2|0	CSMD1|CSMD1	3068658|3068658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	3.782000|3.782000	0.55401|0.55401	2.554000|2.554000	0.86153|0.86153	0.650000|0.650000	0.86243|0.86243	AAG|AGT	-	NULL		0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225	Missense_Mutation	3068658	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_033225	genbank	human	validated	54_36p	missense	SNP	1.000	A
GLYR1	84656	genome.wustl.edu	37	16	4882111	4882111	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr16:4882111C>A	ENST00000321919.9	-	5	482	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	GLYR1_ENST00000381983.3_Missense_Mutation_p.V136L|GLYR1_ENST00000591451.1_Missense_Mutation_p.V136L|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000586901.1_5'UTR	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	136					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTCTTCTTCACCTTCCCTTCA	0.488																																																0			16											189.0	170.0	177.0					16																	4882111		2197	4300	6497	4822112	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.406G>T	16.37:g.4882111C>A	ENSP00000322716:p.Val136Leu		4822112	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_AT_hook,HMMPfam_NAD_binding_2,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like	p.V136L	ENST00000321919.9	37	c.406	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623943	0.46840	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.63913	-0.07;-0.05	5.29	5.29	0.74685	.	0.421594	0.22830	N	0.055115	T	0.47340	0.1440	N	0.14661	0.345	0.34728	D	0.729404	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50499	-0.8821	10	0.26408	T	0.33	-14.9662	18.0706	0.89405	0.0:1.0:0.0:0.0	.	136;136;136	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	L	136	ENSP00000322716:V136L;ENSP00000371413:V136L	ENSP00000322716:V136L	V	-	1	0	GLYR1	4822112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.846000	0.39289	2.634000	0.89283	0.650000	0.86243	GTG	-	NULL		0.488	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	N-PAC	protein_coding	OTTHUMT00000251717.2	C	NM_032569		4822112	-1	no_errors	NM_032569	genbank	human	validated	54_36p	missense	SNP	1.000	A
OR51B4	79339	genome.wustl.edu	37	11	5322941	5322941	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr11:5322941A>C	ENST00000380224.1	-	1	285	c.236T>G	c.(235-237)gTc>gGc	p.V79G	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	79					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACACCCAGGACTGTGGGCAT	0.507																																																0			11											129.0	120.0	123.0					11																	5322941		2201	4297	6498	5279517	SO:0001583	missense	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.236T>G	11.37:g.5322941A>C	ENSP00000369573:p.Val79Gly		5279517	A7MAV5|Q6NTD7	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.V79G	ENST00000380224.1	37	c.236	CCDS7757.1	11	.	.	.	.	.	.	.	.	.	.	A	9.452	1.090863	0.20471	.	.	ENSG00000183251	ENST00000380224	T	0.03212	4.01	4.39	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000302	T	0.17023	0.0409	M	0.91406	3.205	0.18873	N	0.999982	D	0.69078	0.997	D	0.63793	0.918	T	0.09015	-1.0694	10	0.72032	D	0.01	.	5.6734	0.17735	0.7343:0.1744:0.0912:0.0	.	79	Q9Y5P0	O51B4_HUMAN	G	79	ENSP00000369573:V79G	ENSP00000369573:V79G	V	-	2	0	OR51B4	5279517	0.002000	0.14202	0.056000	0.19401	0.008000	0.06430	1.928000	0.40104	0.720000	0.32209	0.533000	0.62120	GTC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.507	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B4	protein_coding	OTTHUMT00000142956.2	A	NM_033179		5279517	-1	no_errors	NM_033179	genbank	human	validated	54_36p	missense	SNP	0.028	C
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100.0	89.0	93.0					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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.I195T	ENST00000269305.4	37	c.584	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		7518990	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ADAMTS10	81794	genome.wustl.edu	37	19	8668756	8668756	+	Missense_Mutation	SNP	C	C	T	rs146637359		TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:8668756C>T	ENST00000597188.1	-	5	718	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V150M|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	150						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCGTCTGCCACGATCAGGCCG	0.552																																																0			19						C	MET/VAL	0,4406		0,0,2203	74.0	68.0	70.0		448	5.7	1.0	19	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS10	NM_030957.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	150/1104	8668756	1,13005	2203	4300	6503	8574756	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.448G>A	19.37:g.8668756C>T	ENSP00000471851:p.Val150Met		8574756	M0QZE4	Missense_Mutation	SNP	PatternScan_DISINTEGRIN_1,HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC	p.V150M	ENST00000597188.1	37	c.448	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455735	0.84209	0.0	1.16E-4	ENSG00000142303	ENST00000270328	T	0.06218	3.33	5.72	5.72	0.89469	Peptidase M12B, propeptide (1);	0.157695	0.41097	D	0.000949	T	0.21631	0.0521	L	0.49455	1.56	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.00028	-1.2297	10	0.59425	D	0.04	.	18.8667	0.92294	0.0:1.0:0.0:0.0	.	150	Q9H324	ATS10_HUMAN	M	150	ENSP00000270328:V150M	ENSP00000270328:V150M	V	-	1	0	ADAMTS10	8574756	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.235000	0.78143	2.705000	0.92388	0.585000	0.79938	GTG	-	HMMPfam_Pep_M12B_propep		0.552	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	protein_coding	OTTHUMT00000460085.3	C	NM_030957		8574756	-1	no_errors	NM_030957	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KIF1B	23095	genome.wustl.edu	37	1	10403309	10403309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:10403309C>T	ENST00000377086.1	+	34	3854	c.3652C>T	c.(3652-3654)Cga>Tga	p.R1218*	KIF1B_ENST00000377081.1_Nonsense_Mutation_p.R1218*|KIF1B_ENST00000263934.6_Nonsense_Mutation_p.R1172*			O60333	KIF1B_HUMAN	kinesin family member 1B	1218					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGTGCCGCCGATTCTTCCC	0.453																																																0			1											94.0	93.0	93.0					1																	10403309		2203	4300	6503	10325896	SO:0001587	stop_gained	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3652C>T	1.37:g.10403309C>T	ENSP00000366290:p.Arg1218*		10325896	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Nonsense_Mutation	SNP	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.R1172*	ENST00000377086.1	37	c.3514		1	.	.	.	.	.	.	.	.	.	.	C	38	6.868284	0.97897	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	.	.	.	4.78	0.431	0.16523	.	0.057925	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3594	0.38186	0.5186:0.4109:0.0:0.0705	.	.	.	.	X	1218;1172;1218;1218	.	ENSP00000263934:R1172X	R	+	1	2	KIF1B	10325896	0.990000	0.36364	0.233000	0.24025	0.199000	0.23934	1.837000	0.39201	-0.109000	0.12044	0.655000	0.94253	CGA	-	NULL		0.453	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	protein_coding	OTTHUMT00000005102.1	C			10325896	+1	no_errors	NM_015074	genbank	human	reviewed	54_36p	nonsense	SNP	0.990	T
HSP90AB2P	391634	genome.wustl.edu	37	4	13339829	13339829	+	RNA	SNP	T	T	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr4:13339829T>A	ENST00000602906.1	+	0	1180							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						AAGGTTGAGATGGTGACAGTC	0.473																																																0			4																																								12948927			391634			AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339829T>A			12948927		RNA	SNP	-	NULL	ENST00000602906.1	37	NULL		4																																																																																			-	-		0.473	HSP90AB2P-001	KNOWN	basic	processed_transcript	HSP90AB2P	pseudogene	OTTHUMT00000359156.2	T			12948927	+1	pseudogene	NR_003132	genbank	human	provisional	54_36p	rna	SNP	1.000	A
CYP4F12	66002	genome.wustl.edu	37	19	15794393	15794393	+	Silent	SNP	G	G	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:15794393G>A	ENST00000550308.1	+	7	1118	c.738G>A	c.(736-738)ctG>ctA	p.L246L	CYP4F12_ENST00000324632.10_Silent_p.L246L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	246					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGGACTTTCTGTATTACCTCT	0.582																																																0			19											77.0	78.0	77.0					19																	15794393		2200	4297	6497	15655393	SO:0001819	synonymous_variant	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.738G>A	19.37:g.15794393G>A			15655393	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450	p.L246	ENST00000550308.1	37	c.738	CCDS42517.1	19																																																																																			-	superfamily_Cytochrome P450,HMMPfam_p450		0.582	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	protein_coding	OTTHUMT00000378938.9	G			15655393	+1	no_errors	NM_023944	genbank	human	reviewed	54_36p	silent	SNP	0.067	A
RPS8P10	388076	genome.wustl.edu	37	15	22440836	22440836	+	IGR	SNP	G	G	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr15:22440836G>C								RP11-2F9.4 (4659 upstream) : IGHV1OR15-1 (7545 downstream)																							GTTGTCCCAAGAGATGTCCAT	0.502																																																0			15																																								19942200	SO:0001628	intergenic_variant	388076																															15.37:g.22440836G>C			19942200		Missense_Mutation	SNP	HMMPfam_Ribosomal_S8e	p.S4C		37	c.11		15																																																																																			-	HMMPfam_Ribosomal_S8e	0	0.502					LOC388076			G			19942200	-1	pseudogene	XM_931016	genbank	human	model	54_36p	missense	SNP	1.000	C
GABRA5	2558	genome.wustl.edu	37	15	27184468	27184468	+	Intron	SNP	A	A	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr15:27184468A>T	ENST00000335625.5	+	9	1612				GABRA5_ENST00000355395.5_Intron|GABRB3_ENST00000541819.2_Missense_Mutation_p.L39H|GABRA5_ENST00000400081.3_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5						associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AATCCAGAGAAGGCACTGGGG	0.572																																																0			15											163.0	137.0	145.0					15																	27184468		876	1991	2867	24767214	SO:0001627	intron_variant	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.725-604A>T	15.37:g.27184468A>T			24767214	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Splice_Site	SNP	-	e7-2	ENST00000335625.5	37	c.485-2	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	A	13.08	2.131393	0.37630	.	.	ENSG00000166206	ENST00000541819	D	0.83992	-1.79	5.11	3.94	0.45596	.	0.811462	0.11084	N	0.601549	D	0.83166	0.5195	.	.	.	0.80722	D	1	P	0.44946	0.846	P	0.47162	0.54	T	0.78730	-0.2090	9	0.59425	D	0.04	.	8.8737	0.35332	0.7008:0.0:0.0:0.2992	.	39	F5H7N0	.	H	39	ENSP00000442408:L39H	ENSP00000442408:L39H	L	-	2	0	GABRB3	24767214	0.866000	0.29940	1.000000	0.80357	0.777000	0.43975	1.632000	0.37102	0.847000	0.35167	0.459000	0.35465	CTT	-	-		0.572	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	protein_coding	OTTHUMT00000415234.1	A			24767214	+1	no_stop_codon	ENST00000355395	ensembl	human	known	54_36p	splice_site	SNP	0.296	T
RPL7P58	646346	genome.wustl.edu	37	X	26704298	26704298	+	IGR	SNP	A	A	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chrX:26704298A>T								VENTXP1 (125129 upstream) : RNU1-142P (103960 downstream)																							TCTATGAAAAAGCAAAGcact	0.388																																																0			X																																								26614219	SO:0001628	intergenic_variant	646346																															X.37:g.26704298A>T			26614219		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.388					LOC646346			A			26614219	+1	pseudogene	XR_017105	genbank	human	model	54_36p	rna	SNP	0.821	T
MTPAP	55149	genome.wustl.edu	37	10	30625880	30625880	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr10:30625880C>T	ENST00000263063.4	-	4	675	c.632G>A	c.(631-633)tGt>tAt	p.C211Y	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.C341Y	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	211					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AATAAGAGAACAGGTGAGATA	0.463																																																0			10											157.0	151.0	153.0					10																	30625880		2203	4300	6503	30665886	SO:0001583	missense	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.632G>A	10.37:g.30625880C>T	ENSP00000263063:p.Cys211Tyr		30665886	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc	p.C211Y	ENST00000263063.4	37	c.632	CCDS7165.1	10	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707041	0.68615	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581	T;T;T	0.07800	3.16;3.16;3.16	5.64	4.72	0.59763	.	0.096911	0.64402	D	0.000001	T	0.26195	0.0639	M	0.80183	2.485	0.58432	D	0.999993	D;P	0.76494	0.999;0.939	D;P	0.70227	0.968;0.781	T	0.27872	-1.0061	10	0.08837	T	0.75	-11.9468	14.82	0.70065	0.0:0.7265:0.2735:0.0	.	341;211	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	Y	341;211;146	ENSP00000350820:C341Y;ENSP00000263063:C211Y;ENSP00000404392:C146Y	ENSP00000263063:C211Y	C	-	2	0	MTPAP	30665886	1.000000	0.71417	0.978000	0.43139	0.756000	0.42949	4.457000	0.60088	1.349000	0.45751	0.650000	0.86243	TGT	-	superfamily_Nucleotidyltransferase		0.463	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTPAP	protein_coding	OTTHUMT00000047426.2	C	NM_018109		30665886	-1	no_errors	NM_018109	genbank	human	validated	54_36p	missense	SNP	1.000	T
GTPBP1	9567	genome.wustl.edu	37	22	39112796	39112796	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr22:39112796A>T	ENST00000216044.5	+	4	858	c.625A>T	c.(625-627)Agc>Tgc	p.S209C		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	209	G2. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGGTCGCACCAGCAGTGTGGG	0.562																																																0			22											115.0	101.0	106.0					22																	39112796		2203	4300	6503	37442742	SO:0001583	missense	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.625A>T	22.37:g.39112796A>T	ENSP00000216044:p.Ser209Cys		37442742	Q6IC67	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_Elong_init_C,HMMPfam_GTP_EFTU_D3	p.S209C	ENST00000216044.5	37	c.625	CCDS13977.2	22	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222698	0.79464	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70986	-0.53;-0.53	4.92	4.92	0.64577	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93028	0.6446	10	0.87932	D	0	.	14.5442	0.68017	1.0:0.0:0.0:0.0	.	209	O00178	GTPB1_HUMAN	C	209;128	ENSP00000216044:S209C;ENSP00000442881:S128C	ENSP00000216044:S209C	S	+	1	0	GTPBP1	37442742	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.852000	0.69488	1.825000	0.53177	0.368000	0.22195	AGC	-	superfamily_SSF52540,HMMPfam_GTP_EFTU		0.562	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	protein_coding	OTTHUMT00000075532.1	A	NM_004286		37442742	+1	no_errors	NM_004286	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF25	219749	genome.wustl.edu	37	10	38246347	38246347	+	Splice_Site	SNP	C	C	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr10:38246347C>A	ENST00000302609.7	-	3	355		c.e3+1		AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_Splice_Site	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GTTTTCCTCACCCACTGAGAC	0.423																																																1	Unknown(1)	lung(1)	10											128.0	116.0	120.0					10																	38246347		2203	4300	6503	38286353	SO:0001630	splice_region_variant	219749			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.142+1G>T	10.37:g.38246347C>A			38286353	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Splice_Site	SNP	-	e2+1	ENST00000302609.7	37	c.142+1	CCDS7195.1	10	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349098	0.41599	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.575	0.56359	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF25	38286353	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.524000	0.60552	2.424000	0.82194	0.561000	0.74099	.	-	-		0.423	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	protein_coding	OTTHUMT00000051214.1	C	NM_145011, NM_006966	Intron	38286353	-1	no_errors	NM_145011	genbank	human	provisional	54_36p	splice_site	SNP	0.999	A
TOE1	114034	genome.wustl.edu	37	1	45808946	45808946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:45808946C>T	ENST00000372090.5	+	8	1688	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	TOE1_ENST00000539779.1_Nonsense_Mutation_p.Q289*|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|TESK2_ENST00000486676.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	369						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TCCCAAGAAGCAGGTCTGTGG	0.552																																																0			1											97.0	103.0	101.0					1																	45808946		2203	4300	6503	45581533	SO:0001587	stop_gained	114034				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1105C>T	1.37:g.45808946C>T	ENSP00000361162:p.Gln369*		45581533	B4DEM6|Q6IA35|Q8IWN5|Q9H846	Nonsense_Mutation	SNP	superfamily_RNaseH_fold,HMMPfam_CAF1,HMMPfam_zf-CCCH	p.Q369*	ENST00000372090.5	37	c.1105	CCDS521.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.175770	0.98691	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	.	.	.	5.99	5.99	0.97316	.	0.109407	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.5477	17.3714	0.87379	0.0:0.8756:0.1244:0.0	.	.	.	.	X	369;289	.	ENSP00000361162:Q369X	Q	+	1	0	TOE1	45581533	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.348000	0.59379	2.840000	0.97914	0.655000	0.94253	CAG	-	HMMPfam_CAF1		0.552	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOE1	protein_coding	OTTHUMT00000020517.1	C	NM_025077		45581533	+1	no_errors	NM_025077	genbank	human	validated	54_36p	nonsense	SNP	0.835	T
ZNF229	7772	genome.wustl.edu	37	19	44934186	44934186	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:44934186C>T	ENST00000588931.1	-	6	1203	c.770G>A	c.(769-771)cGc>cAc	p.R257H	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.R251H|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGGGTTAATGCGATGAAGTAC	0.428																																																0			19											111.0	103.0	105.0					19																	44934186		1904	4114	6018	49626026	SO:0001583	missense	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.770G>A	19.37:g.44934186C>T	ENSP00000466519:p.Arg257His		49626026	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.R257H	ENST00000588931.1	37	c.770	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	T	8.311	0.822113	0.16678	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	-2.7	0.06004	.	.	.	.	.	T	0.24044	0.0582	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15838	-1.0423	8	0.56958	D	0.05	.	4.7674	0.13139	0.1294:0.5273:0.1313:0.212	.	257	Q9UJW7	ZN229_HUMAN	H	257	.	ENSP00000291187:R257H	R	-	2	0	ZNF229	49626026	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.878000	0.28126	-0.979000	0.03529	-0.308000	0.09152	CGC	-	NULL		0.428	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	protein_coding	OTTHUMT00000460833.1	C	NM_014518		49626026	-1	no_errors	NM_014518	genbank	human	validated	54_36p	missense	SNP	0.002	T
CASS4	57091	genome.wustl.edu	37	20	55033506	55033506	+	Silent	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr20:55033506C>T	ENST00000360314.3	+	7	2289	c.2064C>T	c.(2062-2064)agC>agT	p.S688S	CASS4_ENST00000371336.3_Silent_p.S688S|CASS4_ENST00000434344.1_Silent_p.S251S|AL121914.1_ENST00000390795.2_RNA	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	688					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAGCCATCAGCGCATTTCACG	0.567																																																0			20											64.0	62.0	63.0					20																	55033506		2203	4300	6503	54466913	SO:0001819	synonymous_variant	57091			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2064C>T	20.37:g.55033506C>T			54466913	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_Serine_rich	p.S688	ENST00000360314.3	37	c.2064	CCDS33492.1	20																																																																																			-	NULL		0.567	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	protein_coding	OTTHUMT00000079789.2	C	NM_020356		54466913	+1	no_errors	NM_020356	genbank	human	validated	54_36p	silent	SNP	0.003	T
PNKP	11284	genome.wustl.edu	37	19	50367329	50367329	+	Splice_Site	SNP	C	C	G			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:50367329C>G	ENST00000322344.3	-	7	746		c.e7-1		PNKP_ENST00000595792.1_5'Flank|PNKP_ENST00000600910.1_Splice_Site|PNKP_ENST00000596014.1_Splice_Site|PNKP_ENST00000600573.1_Splice_Site	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase						dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		AGATCACCAGCTGGGGAGCAA	0.652								Other BER factors																																								0			19											38.0	35.0	36.0					19																	50367329		2203	4300	6503	55059141	SO:0001630	splice_region_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.637-1G>C	19.37:g.50367329C>G			55059141	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Splice_Site	SNP	-	e6-1	ENST00000322344.3	37	c.637-1	CCDS12783.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320593	0.81469	.	.	ENSG00000039650	ENST00000322344	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3043	0.73979	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNKP	55059141	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.814000	0.62627	2.679000	0.91253	0.655000	0.94253	.	-	-		0.652	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	protein_coding	OTTHUMT00000465830.1	C	NM_007254	Intron	55059141	-1	no_errors	NM_007254	genbank	human	provisional	54_36p	splice_site	SNP	1.000	G
KDR	3791	genome.wustl.edu	37	4	55984786	55984786	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr4:55984786A>C	ENST00000263923.4	-	3	638	c.343T>G	c.(343-345)Tat>Gat	p.Y115D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	115					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACATAGACATAAATGACCGAG	0.403			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											94.0	86.0	89.0					4																	55984786		2203	4300	6503	55679543	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.343T>G	4.37:g.55984786A>C	ENSP00000263923:p.Tyr115Asp		55679543	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.Y115D	ENST00000263923.4	37	c.343	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334326	0.60853	.	.	ENSG00000128052	ENST00000263923	T	0.39787	1.06	5.48	5.48	0.80851	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	M	0.85462	2.755	0.54753	D	0.99998	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.974	T	0.70799	-0.4774	10	0.87932	D	0	.	9.9894	0.41860	0.9244:0.0:0.0756:0.0	.	115;115	P35968-2;P35968	.;VGFR2_HUMAN	D	115	ENSP00000263923:Y115D	ENSP00000263923:Y115D	Y	-	1	0	KDR	55679543	1.000000	0.71417	0.891000	0.34965	0.725000	0.41563	6.090000	0.71397	2.091000	0.63221	0.533000	0.62120	TAT	-	superfamily_SSF48726,HMMSmart_IG		0.403	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	A			55679543	-1	no_errors	NM_002253	genbank	human	validated	54_36p	missense	SNP	0.990	C
NLRP11	204801	genome.wustl.edu	37	19	56320356	56320356	+	Silent	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:56320356C>T	ENST00000589093.1	-	3	1713	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	NLRP11_ENST00000592953.1_Silent_p.T441T|NLRP11_ENST00000589824.2_Silent_p.T540T|NLRP11_ENST00000360133.3_Silent_p.T540T|NLRP11_ENST00000443188.1_Silent_p.T540T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCATATGGTGCGTCAACTTTT	0.443																																																0			19											163.0	151.0	155.0					19																	56320356		2203	4300	6503	61012168	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1620G>A	19.37:g.56320356C>T			61012168	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,PatternScan_CU2_MONOOXYGENASE_1,superfamily_RNI-like,HMMSmart_SM00368	p.T540	ENST00000589093.1	37	c.1620	CCDS12935.1	19																																																																																			-	NULL		0.443	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	protein_coding	OTTHUMT00000453657.1	C	NM_145007		61012168	-1	no_errors	NM_145007	genbank	human	validated	54_36p	silent	SNP	0.001	T
ZSCAN5C	649137	genome.wustl.edu	37	19	56719535	56719535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:56719535C>T	ENST00000534327.1	+	4	870	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	ZSCAN5C_ENST00000376267.1_Nonsense_Mutation_p.Q241*			A6NGD5	ZSA5C_HUMAN	zinc finger and SCAN domain containing 5C	241					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|lung(6)|stomach(1)	8						CCCAGAGCCTCAGCTTCCAAA	0.547																																																0			19																																								61411347	SO:0001587	stop_gained	649137					19q13.43	2013-01-08			ENSG00000204532	ENSG00000204532		"""-"", ""Zinc fingers, C2H2-type"""	34294	protein-coding gene	gene with protein product							Standard	NG_012782		Approved	ZNF495C		A6NGD5	OTTHUMG00000167475	ENST00000534327.1:c.721C>T	19.37:g.56719535C>T	ENSP00000435234:p.Gln241*		61411347		Nonsense_Mutation	SNP	HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.Q241*	ENST00000534327.1	37	c.721		19	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914425	0.33815	.	.	ENSG00000204532	ENST00000534327;ENST00000376267	.	.	.	1.23	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	8.3222	0.32136	0.0:1.0:0.0:0.0	.	.	.	.	X	241	.	ENSP00000365443:Q241X	Q	+	1	0	ZSCAN5C	61411347	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	0.082000	0.14847	0.988000	0.38734	0.195000	0.17529	CAG	-	NULL		0.547	ZSCAN5C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC649137	protein_coding	OTTHUMT00000394739.1	C	XM_001131980		61411347	+1	no_errors	XM_001131980	genbank	human	model	54_36p	nonsense	SNP	0.048	T
PEG3	5178	genome.wustl.edu	37	19	57326652	57326652	+	Missense_Mutation	SNP	T	T	G	rs78283258	byFrequency	TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:57326652T>G	ENST00000326441.9	-	10	3521	c.3158A>C	c.(3157-3159)tAt>tCt	p.Y1053S	PEG3_ENST00000598410.1_Missense_Mutation_p.Y929S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Y927S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Y1053S|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1053					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y1053F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCTTGGTCATAGATTTTCTG	0.488																																																2	Substitution - Missense(2)	large_intestine(2)	19											137.0	124.0	128.0					19																	57326652		2203	4300	6503	62018464	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3158A>C	19.37:g.57326652T>G	ENSP00000326581:p.Tyr1053Ser		62018464	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Y1053S	ENST00000326441.9	37	c.3158	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	9.772	1.172986	0.21704	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02421	4.3;4.3	4.01	0.754	0.18410	.	0.319514	0.23043	N	0.052598	T	0.08537	0.0212	M	0.69823	2.125	.	.	.	B;D;D	0.65815	0.012;0.979;0.995	B;P;P	0.61477	0.007;0.681;0.889	T	0.08351	-1.0726	9	0.87932	D	0	.	4.9739	0.14131	0.0:0.1582:0.1627:0.6791	.	929;1053;988	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1053	ENSP00000326581:Y1053S;ENSP00000403051:Y1053S	ENSP00000326581:Y1053S	Y	-	2	0	ZIM2	62018464	0.984000	0.35163	0.001000	0.08648	0.004000	0.04260	4.487000	0.60293	0.054000	0.16065	-0.313000	0.08912	TAT	-	NULL		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	T			62018464	-1	no_errors	NM_006210	genbank	human	provisional	54_36p	missense	SNP	0.064	G
ADAMTS9	56999	genome.wustl.edu	37	3	64582542	64582542	+	Silent	SNP	G	G	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr3:64582542G>A	ENST00000498707.1	-	27	4485	c.4143C>T	c.(4141-4143)ggC>ggT	p.G1381G	ADAMTS9_ENST00000295903.4_Silent_p.G1353G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1381					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAGGACAAGGGCCGGATTCAC	0.458																																																0			3											101.0	89.0	93.0					3																	64582542		2203	4300	6503	64557582	SO:0001819	synonymous_variant	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4143C>T	3.37:g.64582542G>A			64557582	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON"	p.G1381	ENST00000498707.1	37	c.4143	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	G	9.888	1.203446	0.22121	.	.	ENSG00000163638	ENST00000481060	.	.	.	5.4	1.52	0.23074	.	.	.	.	.	T	0.53786	0.1818	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41124	-0.9526	4	.	.	.	.	6.4616	0.21960	0.1309:0.0:0.3921:0.477	.	.	.	.	V	437	.	.	A	-	2	0	ADAMTS9	64557582	0.999000	0.42202	0.996000	0.52242	0.996000	0.88848	0.405000	0.21015	0.095000	0.17434	0.591000	0.81541	GCC	-	superfamily_TSP-1 type 1 repeat,HMMPfam_TSP_1,HMMSmart_SM00209		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	G			64557582	-1	no_errors	NM_182920	genbank	human	reviewed	54_36p	silent	SNP	0.997	A
MITF	4286	genome.wustl.edu	37	3	69928327	69928327	+	Silent	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr3:69928327C>T	ENST00000448226.2	+	2	274	c.147C>T	c.(145-147)agC>agT	p.S49S	MITF_ENST00000314589.5_Silent_p.S33S|MITF_ENST00000328528.6_Silent_p.S48S|MITF_ENST00000472437.1_5'UTR|MITF_ENST00000394355.2_Silent_p.S24S|MITF_ENST00000352241.4_Silent_p.S49S			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	49					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTCCGATAAGCTCCTCCAGTA	0.552			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0			3											45.0	50.0	48.0					3																	69928327		2044	4220	6264	70011017	SO:0001819	synonymous_variant	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.147C>T	3.37:g.69928327C>T			70011017	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH	p.S49	ENST00000448226.2	37	c.147		3																																																																																			-	NULL		0.552	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	MITF	protein_coding	OTTHUMT00000313947.1	C	NM_198159		70011017	+1	no_errors	NM_198159	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
SHROOM3	57619	genome.wustl.edu	37	4	77680734	77680734	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr4:77680734C>A	ENST00000296043.6	+	9	6188	c.5235C>A	c.(5233-5235)aaC>aaA	p.N1745K	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1745	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGTTGGTTAACTGCCCTGCCT	0.488																																																0			4											169.0	148.0	155.0					4																	77680734		2203	4300	6503	77899758	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5235C>A	4.37:g.77680734C>A	ENSP00000296043:p.Asn1745Lys		77899758	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2	p.N1744K	ENST00000296043.6	37	c.5232	CCDS3579.2	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103801|3.103801	0.56291|0.56291	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000264907|ENST00000296043	.|T	.|0.28666	.|1.6	5.43|5.43	4.57|4.57	0.56435|0.56435	.|Apx/shroom, ASD2 (2);	.|0.625728	.|0.16712	.|N	.|0.202607	.|T	.|0.29458	.|0.0734	L|L	0.42245|0.42245	1.32|1.32	0.38138|0.38138	D|D	0.938359|0.938359	.|P	.|0.43231	.|0.801	.|B	.|0.41374	.|0.355	.|T	.|0.17806	.|-1.0357	.|10	.|0.62326	.|D	.|0.03	.|-9.8436	12.948|12.948	0.58384|0.58384	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|1745	.|Q8TF72	.|SHRM3_HUMAN	.|K	-1|1745	.|ENSP00000296043:N1745K	.|ENSP00000296043:N1745K	.|N	+|+	.|3	.|2	SHROOM3|SHROOM3	77899758|77899758	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.599000|0.599000	0.36880|0.36880	4.797000|4.797000	0.62503|0.62503	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	.|AAC	-	HMMPfam_ASD2		0.488	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	protein_coding	OTTHUMT00000252408.2	C	NM_020859		77899758	+1	no_errors	NM_020859	genbank	human	validated	54_36p	missense	SNP	0.469	A
IFI44L	10964	genome.wustl.edu	37	1	79093647	79093647	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:79093647G>C	ENST00000370751.5	+	2	226	c.47G>C	c.(46-48)cGc>cCc	p.R16P	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	16					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AATCATCTGCGCAAGCTGCTT	0.363																																																0			1											103.0	92.0	95.0					1																	79093647		692	1591	2283	78866235	SO:0001583	missense	10964			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.47G>C	1.37:g.79093647G>C	ENSP00000359787:p.Arg16Pro		78866235	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R16P	ENST00000370751.5	37	c.47	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643831	0.29246	.	.	ENSG00000137959	ENST00000452835;ENST00000370751	T;T	0.31769	1.48;3.08	3.13	-0.956	0.10353	.	0.537282	0.17421	N	0.174807	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	1	P	0.50528	0.936	B	0.37480	0.251	T	0.29336	-1.0015	10	0.48119	T	0.1	.	2.3776	0.04346	0.3973:0.0:0.2329:0.3698	.	16	Q53G44	IF44L_HUMAN	P	16	ENSP00000409914:R16P;ENSP00000359787:R16P	ENSP00000359787:R16P	R	+	2	0	IFI44L	78866235	0.038000	0.19896	0.000000	0.03702	0.495000	0.33615	0.363000	0.20301	-0.174000	0.10743	-0.474000	0.04947	CGC	-	NULL		0.363	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	protein_coding	OTTHUMT00000026834.3	G	NM_006820		78866235	+1	no_errors	ENST00000370751	ensembl	human	known	54_36p	missense	SNP	0.001	C
LOC101928978	101928978	genome.wustl.edu	37	4	85164996	85164996	+	IGR	SNP	G	G	A	rs550199110	byFrequency	TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr4:85164996G>A								RNU6-774P (10080 upstream) : RP11-42A4.1 (127549 downstream)																							AAATACTGGCGGAGCCCGAGC	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13964	0.0		0.0	False		,,,				2504	0.0															0			4																																								85384020	SO:0001628	intergenic_variant	152845																															4.37:g.85164996G>A			85384020		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.453					LOC152845			G			85384020	+1	pseudogene	XR_038721	genbank	human	model	54_36p	rna	SNP	0.726	A
IGKV2D-26	28884	genome.wustl.edu	37	2	90025259	90025259	+	RNA	SNP	G	G	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr2:90025259G>T	ENST00000390268.2	+	0	137									immunoglobulin kappa variable 2D-26																		ATCACCCCTGGAGAGCAGGCC	0.473																																																0			2																																								89662560			0			X12689		2p11.2	2012-02-08			ENSG00000211623	ENSG00000211623		"""Immunoglobulins / IGK locus"""	5798	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151606		2.37:g.90025259G>T			89662560		Missense_Mutation	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv	p.G36V	ENST00000390268.2	37	c.107		2																																																																																			-	HMMPfam_V-set,superfamily_SSF48726		0.473	IGKV2D-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	ENSG00000211623	IG_V_gene	OTTHUMT00000323278.2	G	NG_000833		89662560	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390268	ensembl	human	known	54_36p	missense	SNP	0.568	T
BDKRB2	624	genome.wustl.edu	37	14	96707366	96707366	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr14:96707366T>A	ENST00000306005.3	+	3	897	c.701T>A	c.(700-702)cTg>cAg	p.L234Q	BDKRB2_ENST00000539359.1_Missense_Mutation_p.L207Q|BDKRB2_ENST00000542454.2_Missense_Mutation_p.L207Q|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.L234Q	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	234					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GTGGGCTTCCTGCTGCCCCTG	0.547																																																0			14											122.0	93.0	103.0					14																	96707366		2203	4300	6503	95777119	SO:0001583	missense	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.701T>A	14.37:g.96707366T>A	ENSP00000307713:p.Leu234Gln		95777119		Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L234Q	ENST00000306005.3	37	c.701	CCDS9942.1	14	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975101	0.74360	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.320365	0.29178	N	0.012910	D	0.88213	0.6376	M	0.91406	3.205	0.46954	D	0.999262	D	0.61697	0.99	D	0.69479	0.964	D	0.90929	0.4789	10	0.87932	D	0	-12.8579	14.4643	0.67472	0.0:0.0:0.0:1.0	.	234	P30411	BKRB2_HUMAN	Q	207;234;234;207	ENSP00000439459:L207Q;ENSP00000450482:L234Q;ENSP00000307713:L234Q;ENSP00000438376:L207Q	ENSP00000307713:L234Q	L	+	2	0	BDKRB2	95777119	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.946000	0.87746	1.828000	0.53243	0.459000	0.35465	CTG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.547	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	protein_coding	OTTHUMT00000413294.1	T			95777119	+1	no_errors	NM_000623	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
MMS22L	253714	genome.wustl.edu	37	6	97677218	97677218	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr6:97677218A>C	ENST00000275053.4	-	14	1856	c.1591T>G	c.(1591-1593)Ttt>Gtt	p.F531V	MMS22L_ENST00000369251.2_Missense_Mutation_p.F491V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	531					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGCTAAAAAAGTTCTGTAGA	0.323																																																0			6											30.0	29.0	30.0					6																	97677218		2203	4300	6503	97783939	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1591T>G	6.37:g.97677218A>C	ENSP00000275053:p.Phe531Val		97783939	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	NULL	p.F531V	ENST00000275053.4	37	c.1591	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326298	0.81580	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.30714	1.52;1.52	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	M	0.75264	2.295	0.58432	D	0.999999	P;P	0.47350	0.787;0.894	B;P	0.46585	0.23;0.521	T	0.29671	-1.0004	10	0.72032	D	0.01	-5.97	15.6238	0.76833	1.0:0.0:0.0:0.0	.	491;531	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	V	531;491	ENSP00000275053:F531V;ENSP00000358254:F491V	ENSP00000275053:F531V	F	-	1	0	MMS22L	97783939	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.957000	0.87870	2.100000	0.63781	0.533000	0.62120	TTT	-	NULL		0.323	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf167	protein_coding	OTTHUMT00000041573.3	A	NM_198468		97783939	-1	no_errors	NM_198468	genbank	human	predicted	54_36p	missense	SNP	1.000	C
AP4M1	9179	genome.wustl.edu	37	7	99702680	99702680	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr7:99702680G>C	ENST00000359593.4	+	9	844	c.686G>C	c.(685-687)gGc>gCc	p.G229A	AP4M1_ENST00000421755.1_Missense_Mutation_p.G229A|AP4M1_ENST00000422582.1_Missense_Mutation_p.G101A|AP4M1_ENST00000429084.1_Missense_Mutation_p.G236A	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	229	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGCGCATTGGCTTGACGGAA	0.537																																					Pancreas(174;1182 2812 29595 49511)											0			7											124.0	119.0	121.0					7																	99702680		2203	4300	6503	99540616	SO:0001583	missense	9179			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.686G>C	7.37:g.99702680G>C	ENSP00000352603:p.Gly229Ala		99540616	D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	PatternScan_CLAT_ADAPTOR_M_1,HMMPfam_Clat_adaptor_s,superfamily_Longin_like,HMMPfam_Adap_comp_sub,superfamily_AP50,PatternScan_CLAT_ADAPTOR_M_2	p.G229A	ENST00000359593.4	37	c.686	CCDS5685.1	7	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707043	0.68615	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	4.77	4.77	0.60923	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	L	0.42529	1.33	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;P;D;D	0.87578	0.998;0.788;0.998;0.993	T	0.16778	-1.0391	10	0.87932	D	0	-25.0416	15.3565	0.74431	0.0:0.0:1.0:0.0	.	185;181;236;229	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	A	161;236;229;185;229;101	ENSP00000401613:G161A;ENSP00000403663:G236A;ENSP00000352603:G229A;ENSP00000414286:G185A;ENSP00000412185:G229A;ENSP00000406676:G101A	ENSP00000352603:G229A	G	+	2	0	AP4M1	99540616	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.709000	0.68384	2.479000	0.83701	0.561000	0.74099	GGC	-	HMMPfam_Adap_comp_sub,superfamily_AP50		0.537	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP4M1	protein_coding	OTTHUMT00000336772.4	G	NM_004722		99540616	+1	no_errors	NM_004722	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SLC30A7	148867	genome.wustl.edu	37	1	101362171	101362171	+	Silent	SNP	G	G	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:101362171G>A	ENST00000370112.4	+	2	313	c.126G>A	c.(124-126)ctG>ctA	p.L42L	EXTL2_ENST00000480774.1_5'Flank|RP4-549L20.3_ENST00000609247.1_RNA|EXTL2_ENST00000535414.1_5'Flank|SLC30A7_ENST00000357650.4_Silent_p.L42L|EXTL2_ENST00000370113.3_5'Flank|EXTL2_ENST00000370114.3_5'Flank	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	42					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TTTTCTTCCTGTGCCTGAACC	0.527																																					NSCLC(91;473 1491 3102 16827 21633)											0			1											143.0	125.0	131.0					1																	101362171		2203	4300	6503	101134759	SO:0001819	synonymous_variant	148867			AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.126G>A	1.37:g.101362171G>A			101134759	B2R949|D3DT61|Q8TCH2	Silent	SNP	HMMPfam_Cation_efflux	p.L42	ENST00000370112.4	37	c.126	CCDS776.1	1																																																																																			-	HMMPfam_Cation_efflux		0.527	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	SLC30A7	protein_coding	OTTHUMT00000032711.1	G	NM_133496		101134759	+1	no_errors	NM_133496	genbank	human	validated	54_36p	silent	SNP	1.000	A
SLC9A2	6549	genome.wustl.edu	37	2	103281630	103281630	+	Silent	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr2:103281630C>T	ENST00000233969.2	+	3	967	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	275					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGCAGGAATCGCCAACTTCT	0.433																																																0			2											210.0	193.0	198.0					2																	103281630		2203	4300	6503	102648062	SO:0001819	synonymous_variant	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.825C>T	2.37:g.103281630C>T			102648062	B2RMS2	Silent	SNP	HMMPfam_Na_H_Exchanger	p.I275	ENST00000233969.2	37	c.825	CCDS2062.1	2																																																																																			-	HMMPfam_Na_H_Exchanger		0.433	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	protein_coding	OTTHUMT00000253292.2	C			102648062	+1	no_errors	NM_003048	genbank	human	validated	54_36p	silent	SNP	0.987	T
MTSS1	9788	genome.wustl.edu	37	8	125565383	125565383	+	Silent	SNP	A	A	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr8:125565383A>C	ENST00000518547.1	-	14	2591	c.2118T>G	c.(2116-2118)acT>acG	p.T706T	MTSS1_ENST00000354184.4_Silent_p.T424T|MTSS1_ENST00000378017.3_Silent_p.T681T|MTSS1_ENST00000431961.2_Silent_p.T424T|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Silent_p.T480T|MTSS1_ENST00000524090.1_Silent_p.T596T|MTSS1_ENST00000325064.5_Silent_p.T710T|NDUFB9_ENST00000522532.1_Intron	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	706	Pro-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGGGGAGACAGTGGCACTTG	0.582																																					Esophageal Squamous(160;622 1893 3862 8546 12509)											0			8											246.0	240.0	242.0					8																	125565383		2203	4300	6503	125634564	SO:0001819	synonymous_variant	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.2118T>G	8.37:g.125565383A>C			125634564	J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	HMMPfam_IMD,HMMPfam_WH2	p.T706	ENST00000518547.1	37	c.2118	CCDS6353.1	8	.	.	.	.	.	.	.	.	.	.	A	3.164	-0.171444	0.06421	.	.	ENSG00000170873	ENST00000519168	.	.	.	6.17	-11.9	0.00025	.	.	.	.	.	T	0.16385	0.0394	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.09443	-1.0674	4	.	.	.	-3.669	5.8826	0.18864	0.2417:0.3773:0.3095:0.0716	.	.	.	.	G	494	.	.	C	-	1	0	MTSS1	125634564	0.000000	0.05858	0.009000	0.14445	0.672000	0.39443	-1.774000	0.01784	-1.801000	0.01245	-0.250000	0.11733	TGT	-	NULL		0.582	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	protein_coding	OTTHUMT00000109625.3	A	NM_014751		125634564	-1	no_errors	NM_014751	genbank	human	validated	54_36p	silent	SNP	0.000	C
TXNIP	10628	genome.wustl.edu	37	1	145440432	145440432	+	Silent	SNP	A	A	G			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:145440432A>G	ENST00000369317.4	+	5	1072	c.738A>G	c.(736-738)acA>acG	p.T246T	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	246					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTCAGGGACATGCGCATCAT	0.517																																																0			1											119.0	113.0	115.0					1																	145440432		2203	4300	6503	144151789	SO:0001819	synonymous_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.738A>G	1.37:g.145440432A>G			144151789	B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	superfamily_Ig_E-set,HMMPfam_Arrestin_N,HMMPfam_Arrestin_C	p.T246	ENST00000369317.4	37	c.738	CCDS913.1	1																																																																																			-	superfamily_Ig_E-set,HMMPfam_Arrestin_C		0.517	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	protein_coding	OTTHUMT00000038547.1	A	NM_006472		144151789	+1	no_errors	NM_006472	genbank	human	validated	54_36p	silent	SNP	0.999	G
LIX1L	128077	genome.wustl.edu	37	1	145498127	145498127	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:145498127C>G	ENST00000369308.3	+	5	792	c.718C>G	c.(718-720)Cta>Gta	p.L240V	RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	240										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTTCAACTGCTACACTGGAA	0.478																																																0			1											99.0	94.0	96.0					1																	145498127		2203	4300	6503	144209484	SO:0001583	missense	128077			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.718C>G	1.37:g.145498127C>G	ENSP00000358314:p.Leu240Val		144209484	Q6AI36	Missense_Mutation	SNP	NULL	p.L240V	ENST00000369308.3	37	c.718	CCDS915.1	1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569967	0.65765	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	4.98	0.684	0.18003	.	0.000000	0.64402	D	0.000001	T	0.67363	0.2885	M	0.78049	2.395	0.46061	D	0.998849	D	0.89917	1.0	D	0.85130	0.997	T	0.69914	-0.5016	9	0.87932	D	0	-20.4097	8.6137	0.33817	0.0:0.6321:0.0:0.3679	.	240	Q8IVB5	LIX1L_HUMAN	V	240;187	.	ENSP00000358314:L240V	L	+	1	2	LIX1L	144209484	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	0.823000	0.27366	0.274000	0.22072	-0.251000	0.11542	CTA	-	NULL		0.478	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1L	protein_coding	OTTHUMT00000038513.1	C	NM_153713		144209484	+1	no_errors	NM_153713	genbank	human	provisional	54_36p	missense	SNP	1.000	G
PPP1R2P3	153743	genome.wustl.edu	37	5	156278261	156278261	+	IGR	SNP	T	T	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr5:156278261T>A								RNU6-556P (37016 upstream) : TIMD4 (68031 downstream)																							TTGCTTCTTGTTCTCCACAAT	0.313																																																0			5																																								156210839	SO:0001628	intergenic_variant	153743																															5.37:g.156278261T>A			156210839		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.313					PPP1R2P3			T			156210839	+1	pseudogene	NR_002168	genbank	human	validated	54_36p	rna	SNP	0.961	A
MRPL18	29074	genome.wustl.edu	37	6	160212129	160212129	+	Silent	SNP	G	G	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr6:160212129G>C	ENST00000367034.4	+	2	332	c.210G>C	c.(208-210)acG>acC	p.T70T	MRPL18_ENST00000480842.1_3'UTR|TCP1_ENST00000544255.1_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000420894.2_5'Flank|TCP1_ENST00000392168.2_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	70					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GCTGGCGGACGGTGTTTCCCT	0.522																																																0			6											30.0	37.0	35.0					6																	160212129		2203	4300	6503	160132119	SO:0001819	synonymous_variant	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.210G>C	6.37:g.160212129G>C			160132119	Q5TAP9|Q9NZW8	Silent	SNP	superfamily_Translational machinery components	p.T70	ENST00000367034.4	37	c.210	CCDS5270.1	6																																																																																			-	NULL		0.522	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL18	protein_coding	OTTHUMT00000042925.1	G			160132119	+1	no_errors	NM_014161	genbank	human	reviewed	54_36p	silent	SNP	0.541	C
TNN	63923	genome.wustl.edu	37	1	175087877	175087877	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:175087877G>C	ENST00000239462.4	+	11	2680	c.2567G>C	c.(2566-2568)aGg>aCg	p.R856T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	856	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACGGGCCTGAGGCCGGGCATG	0.592																																																0			1											88.0	74.0	78.0					1																	175087877		2203	4300	6503	173354500	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2567G>C	1.37:g.175087877G>C	ENSP00000239462:p.Arg856Thr		173354500	B9EGP3|Q5R360	Missense_Mutation	SNP	PatternScan_EGF_1,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like,PatternScan_FIBRIN_AG_C_DOMAIN	p.R856T	ENST00000239462.4	37	c.2567	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673630	0.29693	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57595	0.39	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.220732	0.48286	D	0.000189	T	0.56217	0.1970	L	0.48362	1.52	0.41122	D	0.985824	D	0.67145	0.996	D	0.64687	0.928	T	0.53837	-0.8382	10	0.16896	T	0.51	.	6.2704	0.20951	0.1264:0.1799:0.6936:0.0	.	856	Q9UQP3	TENN_HUMAN	T	856;679	ENSP00000239462:R856T	ENSP00000239462:R856T	R	+	2	0	TNN	173354500	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	1.486000	0.35530	2.473000	0.83533	0.313000	0.20887	AGG	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	protein_coding	OTTHUMT00000084422.1	G	XM_040527		173354500	+1	no_errors	NM_022093	genbank	human	validated	54_36p	missense	SNP	1.000	C
