#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_BAM_File	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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAM7	8756	genome.wustl.edu	37	8	24300020	24300020	+	Silent	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr8:24300020G>C	ENST00000175238.6	+	2	170	c.87G>C	c.(85-87)ctG>ctC	p.L29L	ADAM7_ENST00000380789.1_Silent_p.L29L|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Silent_p.L29L	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTCAACAACTGGTTCGTCCTA	0.398																																						dbGAP											0													220.0	215.0	217.0					8																	24300020		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.87G>C	8.37:g.24300020G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8X7|O75959|Q6PEJ6	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L29	ENST00000175238.6	37	c.87	CCDS6045.1	8																																																																																			ADAM7	-	pfam_Peptidase_M12B_N	ENSG00000069206		0.398	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	242	0.00	0	G	NM_003817		24300020	24300020	+1	no_errors	ENST00000175238	ensembl	human	known	69_37n	silent	280	16.37	55	SNP	0.886	C
ALDH3B1	221	genome.wustl.edu	37	11	67786655	67786655	+	Silent	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr11:67786655G>A	ENST00000539229.1	+	6	524	c.408G>A	c.(406-408)ctG>ctA	p.L136L	ALDH3B1_ENST00000007633.8_Silent_p.L136L|ALDH3B1_ENST00000316367.6_Silent_p.L136L|ALDH3B1_ENST00000342456.6_Silent_p.L100L|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	137					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GTGTGGTGCTGAAGCCATCGG	0.632																																						dbGAP											0													41.0	47.0	45.0					11																	67786655		2109	4226	6335	-	-	-	SO:0001819	synonymous_variant	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.408G>A	11.37:g.67786655G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3FMP9|Q53XL5|Q8N515|Q96CK8	RNA	SNP	-	NULL	ENST00000539229.1	37	NULL		11																																																																																			ALDH3B1	-	-	ENSG00000006534		0.632	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding		70	0.00	0	G	NM_000694		67786655	67786655	+1	no_errors	ENST00000007633	ensembl	human	known	69_37n	rna	98	14.04	16	SNP	0.999	A
ARL6IP6	151188	genome.wustl.edu	37	2	153575347	153575347	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr2:153575347G>T	ENST00000326446.5	+	1	920	c.209G>T	c.(208-210)cGc>cTc	p.R70L	PRPF40A_ENST00000486100.1_5'Flank|PRPF40A_ENST00000410080.1_5'Flank	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	70						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						CCCAGAAAGCGCTCGGTGCTC	0.701																																						dbGAP											0													19.0	22.0	21.0					2																	153575347		2199	4294	6493	-	-	-	SO:0001583	missense	0			AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.209G>T	2.37:g.153575347G>T	ENSP00000315357:p.Arg70Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDS6|Q7Z4G7	Missense_Mutation	SNP	NULL	p.R70L	ENST00000326446.5	37	c.209	CCDS2197.1	2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281929	0.40394	.	.	ENSG00000177917	ENST00000326446	.	.	.	3.59	0.543	0.17179	.	0.847285	0.09894	N	0.742005	T	0.25827	0.0629	N	0.22421	0.69	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.22661	-1.0210	9	0.49607	T	0.09	-0.0128	4.7518	0.13064	0.2214:0.1841:0.5945:0.0	.	70	Q8N6S5	AR6P6_HUMAN	L	70	.	ENSP00000315357:R70L	R	+	2	0	ARL6IP6	153283593	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.357000	0.07651	0.098000	0.17522	0.561000	0.74099	CGC	ARL6IP6	-	NULL	ENSG00000177917		0.701	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP6	HGNC	protein_coding	OTTHUMT00000254852.3	34	0.00	0	G	NM_152522		153575347	153575347	+1	no_errors	ENST00000326446	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	0.000	T
BAI1	575	genome.wustl.edu	37	8	143546131	143546131	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr8:143546131G>A	ENST00000517894.1	+	2	1466	c.572G>A	c.(571-573)cGc>cAc	p.R191H	BAI1_ENST00000323289.5_Missense_Mutation_p.R191H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	191					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ATGCTGTGCCGCTGGCTGGAC	0.756																																						dbGAP											0													7.0	13.0	11.0					8																	143546131		1389	2674	4063	-	-	-	SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.572G>A	8.37:g.143546131G>A	ENSP00000430945:p.Arg191His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R191H	ENST00000517894.1	37	c.572		8	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326194	0.60743	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.35789	1.29;1.29	4.42	2.58	0.30949	.	0.272209	0.27164	U	0.020628	T	0.28101	0.0693	L	0.54323	1.7	0.30956	N	0.724225	D	0.55385	0.971	B	0.42062	0.374	T	0.40887	-0.9539	10	0.66056	D	0.02	.	3.0917	0.06296	0.2667:0.2398:0.4935:0.0	.	191	E9PBK0	.	H	191	ENSP00000430945:R191H;ENSP00000313046:R191H	ENSP00000313046:R191H	R	+	2	0	BAI1	143543133	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.965000	0.49200	0.835000	0.34877	0.462000	0.41574	CGC	BAI1	-	NULL	ENSG00000181790		0.756	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	16	0.00	0	G	NM_001702		143546131	143546131	+1	no_errors	ENST00000323289	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	1.000	A
C2CD3	26005	genome.wustl.edu	37	11	73809103	73809103	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr11:73809103G>C	ENST00000334126.7	-	16	3156	c.2930C>G	c.(2929-2931)cCt>cGt	p.P977R	C2CD3_ENST00000313663.7_Missense_Mutation_p.P977R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	977					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGCTGGCCTAGGGCTGAAGGG	0.408																																						dbGAP											0													92.0	96.0	95.0					11																	73809103		2200	4293	6493	-	-	-	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2930C>G	11.37:g.73809103G>C	ENSP00000334379:p.Pro977Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.P977R	ENST00000334126.7	37	c.2930		11	.	.	.	.	.	.	.	.	.	.	G	9.366	1.069335	0.20147	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.50001	0.76;0.76	5.63	1.21	0.21127	.	0.466719	0.22290	N	0.062020	T	0.28499	0.0705	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.11690	-1.0577	10	0.24483	T	0.36	-1.9597	5.2602	0.15569	0.0668:0.3347:0.3697:0.2288	.	977	Q4AC94-1	.	R	977	ENSP00000334379:P977R;ENSP00000323339:P977R	ENSP00000323339:P977R	P	-	2	0	C2CD3	73486751	0.000000	0.05858	0.988000	0.46212	0.986000	0.74619	0.063000	0.14410	0.346000	0.23899	-0.150000	0.13652	CCT	C2CD3	-	NULL	ENSG00000168014		0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		192	0.00	0	G	NM_015531		73809103	73809103	-1	no_errors	ENST00000334126	ensembl	human	known	69_37n	missense	173	21.36	47	SNP	0.008	C
C3orf27	23434	genome.wustl.edu	37	3	128292138	128292138	+	Silent	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr3:128292138G>A	ENST00000356020.2	-	3	1401	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	145										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		gaaaatagctgaaagcaaagt	0.488																																						dbGAP											0													40.0	44.0	43.0					3																	128292138		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.435C>T	3.37:g.128292138G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.F145	ENST00000356020.2	37	c.435	CCDS3050.1	3																																																																																			C3orf27	-	NULL	ENSG00000198685		0.488	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	HGNC	protein_coding	OTTHUMT00000356924.1	31	0.00	0	G	NM_007354		128292138	128292138	-1	no_errors	ENST00000356020	ensembl	human	known	69_37n	silent	34	15.00	6	SNP	0.000	A
CA2	760	genome.wustl.edu	37	8	86389385	86389385	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr8:86389385G>C	ENST00000285379.5	+	6	774	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	182					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CGATCCTCGTGGCCTCCTTCC	0.502																																						dbGAP											0													276.0	244.0	254.0					8																	86389385		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.544G>C	8.37:g.86389385G>C	ENSP00000285379:p.Gly182Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.G182R	ENST00000285379.5	37	c.544	CCDS6239.1	8	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288862	0.40494	.	.	ENSG00000104267	ENST00000285379	T	0.66638	-0.22	5.54	1.51	0.23008	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.644966	0.17529	N	0.170928	T	0.45337	0.1337	N	0.17674	0.51	0.09310	N	1	B	0.18461	0.028	B	0.24848	0.056	T	0.24333	-1.0163	10	0.20519	T	0.43	-0.3386	5.6302	0.17506	0.1443:0.0:0.4495:0.4062	.	182	P00918	CAH2_HUMAN	R	182	ENSP00000285379:G182R	ENSP00000285379:G182R	G	+	1	0	CA2	86576637	0.002000	0.14202	0.002000	0.10522	0.438000	0.31896	0.622000	0.24433	0.275000	0.22094	0.555000	0.69702	GGC	CA2	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000104267		0.502	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA2	HGNC	protein_coding	OTTHUMT00000381097.2	255	0.00	0	G	NM_000067		86389385	86389385	+1	no_errors	ENST00000285379	ensembl	human	known	69_37n	missense	241	32.11	114	SNP	0.000	C
CASP6	839	genome.wustl.edu	37	4	110610542	110610542	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr4:110610542G>A	ENST00000265164.2	-	7	903	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	CASP6_ENST00000352981.3_Missense_Mutation_p.P187S|CASP6_ENST00000510324.1_5'UTR|AC004067.5_ENST00000608733.1_RNA	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	276					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		GCAAAACAGGGAACCTGCTTC	0.393																																						dbGAP											0													76.0	83.0	80.0					4																	110610542		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.826C>T	4.37:g.110610542G>A	ENSP00000265164:p.Pro276Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQE7	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.P276S	ENST00000265164.2	37	c.826	CCDS3684.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.349058	0.95807	.	.	ENSG00000138794	ENST00000352981;ENST00000265164	T;T	0.58358	0.34;0.34	6.17	6.17	0.99709	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	T	0.79200	-0.1901	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	187;276	P55212-2;P55212	.;CASP6_HUMAN	S	187;276	ENSP00000285333:P187S;ENSP00000265164:P276S	ENSP00000265164:P276S	P	-	1	0	CASP6	110829991	1.000000	0.71417	0.972000	0.41901	0.990000	0.78478	9.307000	0.96226	2.941000	0.99782	0.655000	0.94253	CCC	CASP6	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10	ENSG00000138794		0.393	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	HGNC	protein_coding	OTTHUMT00000254866.1	151	0.00	0	G	NM_001226		110610542	110610542	-1	no_errors	ENST00000265164	ensembl	human	known	69_37n	missense	95	14.41	16	SNP	1.000	A
CCDC129	223075	genome.wustl.edu	37	7	31690768	31690768	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr7:31690768G>C	ENST00000407970.3	+	12	2634	c.2596G>C	c.(2596-2598)Gag>Cag	p.E866Q	CCDC129_ENST00000409210.1_Missense_Mutation_p.E774Q|CCDC129_ENST00000319386.3_Missense_Mutation_p.E718Q|CCDC129_ENST00000451887.2_Missense_Mutation_p.E892Q	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	866										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CACAGTCCATGAGATGGAAGC	0.478																																						dbGAP											0													103.0	98.0	100.0					7																	31690768		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2596G>C	7.37:g.31690768G>C	ENSP00000384416:p.Glu866Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	NULL	p.E892Q	ENST00000407970.3	37	c.2674	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781992	0.70222	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.0	5.0	0.66597	.	0.245199	0.28847	N	0.013960	T	0.66005	0.2746	M	0.69823	2.125	0.28856	N	0.895777	D;D;D;D	0.89917	1.0;0.996;0.996;0.963	D;P;P;P	0.71870	0.975;0.907;0.907;0.678	T	0.63453	-0.6634	10	0.72032	D	0.01	-13.9176	13.6515	0.62314	0.0:0.0:1.0:0.0	.	892;876;866;718	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	Q	718;866;892;876;774	ENSP00000313062:E718Q;ENSP00000384416:E866Q;ENSP00000395835:E892Q;ENSP00000387214:E774Q	ENSP00000313062:E718Q	E	+	1	0	CCDC129	31657293	1.000000	0.71417	0.903000	0.35520	0.954000	0.61252	5.128000	0.64733	2.599000	0.87857	0.585000	0.79938	GAG	CCDC129	-	NULL	ENSG00000180347		0.478	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	157	0.00	0	G	NM_194300		31690768	31690768	+1	no_errors	ENST00000451887	ensembl	human	known	69_37n	missense	90	41.94	65	SNP	0.902	C
CDC42BPG	55561	genome.wustl.edu	37	11	64597720	64597720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr11:64597720G>A	ENST00000342711.5	-	29	3312	c.3313C>T	c.(3313-3315)Cga>Tga	p.R1105*	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCGCAAGTCGATCctggtct	0.612																																						dbGAP											0													69.0	53.0	59.0					11																	64597720		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3313C>T	11.37:g.64597720G>A	ENSP00000345133:p.Arg1105*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R1105*	ENST00000342711.5	37	c.3313	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.488034	0.97607	.	.	ENSG00000171219	ENST00000342711	.	.	.	4.78	3.86	0.44501	.	0.000000	0.40640	N	0.001049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4119	0.55471	0.0:0.0:0.8305:0.1695	.	.	.	.	X	1105	.	ENSP00000345133:R1105X	R	-	1	2	CDC42BPG	64354296	0.991000	0.36638	1.000000	0.80357	0.355000	0.29361	2.935000	0.48963	1.138000	0.42230	-0.182000	0.12963	CGA	CDC42BPG	-	pfam_Citron,smart_Citron	ENSG00000171219		0.612	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	134	0.00	0	G	XM_290516		64597720	64597720	-1	no_errors	ENST00000342711	ensembl	human	known	69_37n	nonsense	165	20.29	42	SNP	0.998	A
CENPQ	55166	genome.wustl.edu	37	6	49438722	49438722	+	Silent	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr6:49438722G>C	ENST00000335783.3	+	3	232	c.138G>C	c.(136-138)ctG>ctC	p.L46L		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	46					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAAATCATCTGAAAGATCTGT	0.308																																						dbGAP											0													54.0	56.0	56.0					6																	49438722		2202	4289	6491	-	-	-	SO:0001819	synonymous_variant	0			AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.138G>C	6.37:g.49438722G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAF1|Q6IN61|Q9NVS5	Silent	SNP	NULL	p.L46	ENST00000335783.3	37	c.138	CCDS4925.1	6																																																																																			CENPQ	-	NULL	ENSG00000031691		0.308	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPQ	HGNC	protein_coding	OTTHUMT00000040855.2	124	0.00	0	G	NM_018132		49438722	49438722	+1	no_errors	ENST00000335783	ensembl	human	known	69_37n	silent	65	20.73	17	SNP	0.005	C
CHST3	9469	genome.wustl.edu	37	10	73767170	73767170	+	Silent	SNP	C	C	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr10:73767170C>A	ENST00000373115.4	+	3	818	c.381C>A	c.(379-381)gcC>gcA	p.A127A		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	127					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CCAGACCGGCCGTGGCGGGGC	0.677																																						dbGAP											0													11.0	13.0	13.0					10																	73767170		2196	4283	6479	-	-	-	SO:0001819	synonymous_variant	0			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.381C>A	10.37:g.73767170C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75099|Q52M30	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.A127	ENST00000373115.4	37	c.381	CCDS7312.1	10																																																																																			CHST3	-	pirsf_Carbohydrate_sulfotransferase	ENSG00000122863		0.677	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	23	0.00	0	C	NM_004273		73767170	73767170	+1	no_errors	ENST00000373115	ensembl	human	known	69_37n	silent	29	19.44	7	SNP	0.000	A
CNTN1	1272	genome.wustl.edu	37	12	41337930	41337930	+	Silent	SNP	C	C	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr12:41337930C>A	ENST00000551295.2	+	14	1758	c.1641C>A	c.(1639-1641)atC>atA	p.I547I	CNTN1_ENST00000360099.3_Silent_p.I547I|CNTN1_ENST00000547849.1_Silent_p.I547I|CNTN1_ENST00000347616.1_Silent_p.I547I|CNTN1_ENST00000348761.2_Silent_p.I536I|CNTN1_ENST00000547702.1_Silent_p.I547I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	547	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.I547I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCTATGTGATCGATTTTAACA	0.408																																						dbGAP											1	Substitution - coding silent(1)	cervix(1)											127.0	105.0	112.0					12																	41337930		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1641C>A	12.37:g.41337930C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I547	ENST00000551295.2	37	c.1641	CCDS8737.1	12																																																																																			CNTN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000018236		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	248	0.00	0	C	NM_001843		41337930	41337930	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	silent	148	24.10	47	SNP	0.296	A
COIL	8161	genome.wustl.edu	37	17	55028115	55028116	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr17:55028115_55028116delTT	ENST00000240316.4	-	2	521_522	c.487_488delAA	c.(487-489)aagfs	p.K163fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	163						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTTTTTCTCTTGTTTTTTTTG	0.366																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.487_488delAA	17.37:g.55028115_55028116delTT	ENSP00000240316:p.Lys163fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R931	Frame_Shift_Del	DEL	NULL	p.K163fs	ENST00000240316.4	37	c.488_487	CCDS11592.1	17																																																																																			COIL	-	NULL	ENSG00000121058		0.366	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	541	0.00	0	TT			55028115	55028116	-1	no_errors	ENST00000240316	ensembl	human	known	69_37n	frame_shift_del	353	15.98	70	DEL	0.841:0.831	-
COL7A1	1294	genome.wustl.edu	37	3	48627949	48627949	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr3:48627949C>A	ENST00000328333.8	-	14	1956	c.1849G>T	c.(1849-1851)Gcc>Tcc	p.A617S	COL7A1_ENST00000454817.1_Missense_Mutation_p.A617S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	617	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTCCCCAGGCCACCCTCACT	0.587																																						dbGAP											0													81.0	79.0	80.0					3																	48627949		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1849G>T	3.37:g.48627949C>A	ENSP00000332371:p.Ala617Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.A617S	ENST00000328333.8	37	c.1849	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968160	0.34754	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.50813	0.73;0.73	5.01	1.94	0.25998	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.140751	0.31859	N	0.006955	T	0.24547	0.0595	N	0.16903	0.455	0.31915	N	0.614176	B	0.22211	0.066	B	0.25405	0.06	T	0.09862	-1.0655	10	0.22706	T	0.39	.	3.1064	0.06344	0.1883:0.4959:0.0:0.3158	.	617	Q02388	CO7A1_HUMAN	S	617	ENSP00000332371:A617S;ENSP00000412569:A617S	ENSP00000332371:A617S	A	-	1	0	COL7A1	48602953	0.442000	0.25633	1.000000	0.80357	0.907000	0.53573	-0.262000	0.08682	0.767000	0.33267	0.650000	0.86243	GCC	COL7A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000114270		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	148	0.67	1	C	NM_000094		48627949	48627949	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	missense	96	36.60	56	SNP	1.000	A
COL6A5	256076	genome.wustl.edu	37	3	130116760	130116760	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr3:130116760G>T	ENST00000432398.2	+	9	4396	c.3902G>T	c.(3901-3903)cGg>cTg	p.R1301L	COL6A5_ENST00000265379.6_Missense_Mutation_p.R1301L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1301	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCTGCATCCCGGGGCCAGGTA	0.428																																						dbGAP											0													117.0	99.0	104.0					3																	130116760		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3902G>T	3.37:g.130116760G>T	ENSP00000390895:p.Arg1301Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1301L	ENST00000432398.2	37	c.3902		3	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615508	0.28801	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.59772	0.24;0.24	5.26	0.868	0.19090	.	.	.	.	.	T	0.62816	0.2459	L	0.53249	1.67	0.09310	N	1	D	0.53619	0.961	P	0.58820	0.846	T	0.51276	-0.8726	9	0.37606	T	0.19	.	7.834	0.29360	0.4441:0.0:0.5559:0.0	.	1301	A8TX70-2	.	L	1301	ENSP00000390895:R1301L;ENSP00000265379:R1301L	ENSP00000265379:R1301L	R	+	2	0	COL6A5	131599450	0.000000	0.05858	0.617000	0.29091	0.430000	0.31655	-0.063000	0.11655	0.235000	0.21160	0.561000	0.74099	CGG	COL6A5	-	NULL	ENSG00000172752		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		286	0.00	0	G	NM_153264		130116760	130116760	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	168	23.98	53	SNP	0.079	T
CUL1	8454	genome.wustl.edu	37	7	148454195	148454195	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr7:148454195C>T	ENST00000325222.4	+	4	715	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	CUL1_ENST00000602748.1_Missense_Mutation_p.R146C|CUL1_ENST00000409469.1_Missense_Mutation_p.R146C	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACATTGGGTTCGCCGTGAATG	0.333																																						dbGAP											0													122.0	119.0	120.0					7																	148454195		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.436C>T	7.37:g.148454195C>T	ENSP00000326804:p.Arg146Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R146C	ENST00000325222.4	37	c.436	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184124	0.57800	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.74526	-0.85;-0.85	5.26	5.26	0.73747	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	M	0.72118	2.19	0.80722	D	1	B	0.28350	0.208	B	0.25884	0.064	T	0.76052	-0.3100	10	0.87932	D	0	-19.1291	19.2358	0.93858	0.0:1.0:0.0:0.0	.	146	Q13616	CUL1_HUMAN	C	146;146;104;73	ENSP00000387160:R146C;ENSP00000326804:R146C	ENSP00000326804:R146C	R	+	1	0	CUL1	148085128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.478000	0.60230	2.634000	0.89283	0.650000	0.86243	CGC	CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000055130		0.333	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	295	0.00	0	C	NM_003592		148454195	148454195	+1	no_errors	ENST00000325222	ensembl	human	known	69_37n	missense	248	22.50	72	SNP	1.000	T
CUL9	23113	genome.wustl.edu	37	6	43188323	43188323	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr6:43188323G>C	ENST00000252050.4	+	32	6493	c.6409G>C	c.(6409-6411)Gag>Cag	p.E2137Q	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.E2109Q|CUL9_ENST00000354495.3_Missense_Mutation_p.E2027Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2137					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTCCTCGCCAGAGGTCATCTC	0.617																																						dbGAP											0													104.0	105.0	105.0					6																	43188323		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6409G>C	6.37:g.43188323G>C	ENSP00000252050:p.Glu2137Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.E2137Q	ENST00000252050.4	37	c.6409	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342778	0.82022	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.75704	-0.96;-0.96;-0.85	5.44	5.44	0.79542	.	0.172668	0.49305	D	0.000141	T	0.68026	0.2956	L	0.59436	1.845	0.50467	D	0.999877	P;P;P	0.41188	0.741;0.624;0.624	B;B;B	0.40329	0.326;0.174;0.174	T	0.74586	-0.3616	10	0.72032	D	0.01	-11.9337	19.2699	0.94004	0.0:0.0:1.0:0.0	.	2027;2109;2137	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	Q	2137;2027;2109	ENSP00000252050:E2137Q;ENSP00000346490:E2027Q;ENSP00000361730:E2109Q	ENSP00000252050:E2137Q	E	+	1	0	CUL9	43296301	1.000000	0.71417	0.993000	0.49108	0.863000	0.49368	9.448000	0.97600	2.561000	0.86390	0.555000	0.69702	GAG	CUL9	-	NULL	ENSG00000112659		0.617	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	117	0.00	0	G	NM_015089		43188323	43188323	+1	no_errors	ENST00000252050	ensembl	human	known	69_37n	missense	89	24.58	29	SNP	1.000	C
DARS	1615	genome.wustl.edu	37	2	136700974	136700975	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr2:136700974_136700975GC>AA	ENST00000264161.4	-	5	611_612	c.396_397GC>TT	c.(394-399)caGCaa>caTTaa	p.132_133QQ>H*	DARS_ENST00000537273.1_Nonsense_Mutation_p.32_33QQ>H*|DARS_ENST00000463008.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	132					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TCAACGTCTTGCTGTGTACAGC	0.327																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.396_397delinsAA	2.37:g.136700974_136700975delinsAA	ENSP00000264161:p.Q132_Q133delinsH*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Nonsense_Mutation|Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asp-tRNA-synth_arc/euk	p.Q133*|p.Q132H	ENST00000264161.4	37	c.397|c.396	CCDS2180.1	2																																																																																			DARS	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Asp-tRNA-synth_arc/euk	ENSG00000115866		0.327	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS	HGNC	protein_coding	OTTHUMT00000254660.5	372	0.00	0	G|C	NM_001349		136700974|136700975	136700974|136700975	-1	no_errors	ENST00000264161	ensembl	human	known	69_37n	nonsense|missense	264|267	21.89|21.70	74	SNP	1.000	A
DCLK1	9201	genome.wustl.edu	37	13	36348770	36348770	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr13:36348770A>T	ENST00000360631.3	-	17	2336	c.2125T>A	c.(2125-2127)Tac>Aac	p.Y709N	DCLK1_ENST00000379893.1_Missense_Mutation_p.Y402N|DCLK1_ENST00000255448.4_3'UTR			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	709					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGCGCCTTGTACCGGCTCCTC	0.537																																						dbGAP											0													41.0	37.0	38.0					13																	36348770		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.2125T>A	13.37:g.36348770A>T	ENSP00000353846:p.Tyr709Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.Y709N	ENST00000360631.3	37	c.2125		13	.	.	.	.	.	.	.	.	.	.	A	11.82	1.751694	0.31046	.	.	ENSG00000133083	ENST00000360631;ENST00000379893	T;T	0.65916	-0.13;-0.18	5.95	3.43	0.39272	.	0.354624	0.19195	U	0.120323	T	0.38268	0.1034	N	0.08118	0	0.80722	D	1	B	0.16166	0.016	B	0.14023	0.01	T	0.07158	-1.0787	10	0.24483	T	0.36	.	9.2519	0.37560	0.7487:0.1288:0.0:0.1226	.	402	O15075-4	.	N	709;402	ENSP00000353846:Y709N;ENSP00000369223:Y402N	ENSP00000353846:Y709N	Y	-	1	0	DCLK1	35246770	0.990000	0.36364	0.970000	0.41538	0.974000	0.67602	3.822000	0.55708	0.458000	0.26988	0.533000	0.62120	TAC	DCLK1	-	NULL	ENSG00000133083		0.537	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	115	0.00	0	A	NM_004734		36348770	36348770	-1	no_errors	ENST00000360631	ensembl	human	known	69_37n	missense	72	35.14	39	SNP	0.900	T
EPAS1	2034	genome.wustl.edu	37	2	46587815	46587815	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr2:46587815G>C	ENST00000263734.3	+	5	1003	c.493G>C	c.(493-495)Gag>Cag	p.E165Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	165					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CATGTCCACAGAGCGGGACTT	0.498																																						dbGAP											0													76.0	72.0	73.0					2																	46587815		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.493G>C	2.37:g.46587815G>C	ENSP00000263734:p.Glu165Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS	p.E165Q	ENST00000263734.3	37	c.493	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018202	0.75275	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.27890	1.64;1.64	4.7	4.7	0.59300	.	0.158784	0.56097	D	0.000035	T	0.62146	0.2404	M	0.90542	3.125	0.52501	D	0.999952	D	0.76494	0.999	D	0.74674	0.984	T	0.65829	-0.6073	10	0.30078	T	0.28	.	17.8897	0.88867	0.0:0.0:1.0:0.0	.	165	Q99814	EPAS1_HUMAN	Q	165	ENSP00000406137:E165Q;ENSP00000263734:E165Q	ENSP00000263734:E165Q	E	+	1	0	EPAS1	46441319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.744000	0.85034	2.468000	0.83385	0.555000	0.69702	GAG	EPAS1	-	NULL	ENSG00000116016		0.498	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	83	0.00	0	G	NM_001430		46587815	46587815	+1	no_errors	ENST00000263734	ensembl	human	known	69_37n	missense	63	25.88	22	SNP	0.999	C
FAM208B	54906	genome.wustl.edu	37	10	5789754	5789754	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr10:5789754G>T	ENST00000328090.5	+	15	4995	c.4370G>T	c.(4369-4371)gGt>gTt	p.G1457V		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1457																	GTTTTTGTTGGTCCTACCCAT	0.403																																						dbGAP											0													76.0	72.0	73.0					10																	5789754		1876	4108	5984	-	-	-	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4370G>T	10.37:g.5789754G>T	ENSP00000328426:p.Gly1457Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.G1457V	ENST00000328090.5	37	c.4370	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266429	0.23136	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.05717	3.4	5.27	3.35	0.38373	.	0.825637	0.10932	N	0.618263	T	0.10294	0.0252	L	0.56769	1.78	0.19300	N	0.999977	D	0.54207	0.965	P	0.49012	0.598	T	0.21280	-1.0250	10	0.21014	T	0.42	.	6.653	0.22973	0.0959:0.1835:0.7206:0.0	.	1457	Q5VWN6	F208B_HUMAN	V	1457;652	ENSP00000328426:G1457V	ENSP00000328426:G1457V	G	+	2	0	C10orf18	5829760	0.003000	0.15002	0.018000	0.16275	0.018000	0.09664	0.584000	0.23864	1.313000	0.45069	0.655000	0.94253	GGT	FAM208B	-	NULL	ENSG00000108021		0.403	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	109	0.00	0	G	NM_017782		5789754	5789754	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	missense	116	27.50	44	SNP	0.004	T
HCN3	57657	genome.wustl.edu	37	1	155255046	155255046	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr1:155255046G>T	ENST00000368358.3	+	5	1188	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	394					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGCTACCAGGGCAAGATGTT	0.627																																						dbGAP											0													79.0	69.0	72.0					1																	155255046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1180G>T	1.37:g.155255046G>T	ENSP00000357342:p.Gly394Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.G394C	ENST00000368358.3	37	c.1180	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.069201	0.93950	.	.	ENSG00000143630	ENST00000368358	D	0.96745	-4.11	5.21	5.21	0.72293	Cyclic nucleotide-binding-like (1);	0.000000	0.52532	D	0.000069	D	0.98273	0.9428	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99218	1.0878	10	0.87932	D	0	.	16.5955	0.84795	0.0:0.0:1.0:0.0	.	89;394	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	C	394	ENSP00000357342:G394C	ENSP00000357342:G394C	G	+	1	0	HCN3	153521670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.590000	0.87494	0.563000	0.77884	GGC	HCN3	-	superfamily_cNMP-bd-like	ENSG00000143630		0.627	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	67	0.00	0	G	NM_020897		155255046	155255046	+1	no_errors	ENST00000368358	ensembl	human	known	69_37n	missense	109	16.79	22	SNP	1.000	T
HIST1H1B	3009	genome.wustl.edu	37	6	27834744	27834744	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr6:27834744C>G	ENST00000331442.3	-	1	615	c.564G>C	c.(562-564)aaG>aaC	p.K188N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	188					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TGGCAGGACTCTTGGTTGCCT	0.587																																						dbGAP											0													76.0	75.0	75.0					6																	27834744		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.564G>C	6.37:g.27834744C>G	ENSP00000330074:p.Lys188Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K188N	ENST00000331442.3	37	c.564	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537741	0.27475	.	.	ENSG00000184357	ENST00000331442	T	0.20463	2.07	5.19	2.47	0.30058	.	0.053885	0.64402	D	0.000001	T	0.11024	0.0269	N	0.08118	0	0.58432	D	0.999992	D	0.69078	0.997	P	0.61397	0.888	T	0.11941	-1.0567	10	0.72032	D	0.01	-5.6055	9.7808	0.40647	0.0:0.709:0.0:0.291	.	188	P16401	H15_HUMAN	N	188	ENSP00000330074:K188N	ENSP00000330074:K188N	K	-	3	2	HIST1H1B	27942723	1.000000	0.71417	0.937000	0.37676	0.051000	0.14879	2.393000	0.44442	0.316000	0.23135	-0.136000	0.14681	AAG	HIST1H1B	-	NULL	ENSG00000184357		0.587	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	157	0.00	0	C	NM_005322		27834744	27834744	-1	no_errors	ENST00000331442	ensembl	human	known	69_37n	missense	92	23.97	29	SNP	1.000	G
ITGB4	3691	genome.wustl.edu	37	17	73748569	73748569	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr17:73748569G>A	ENST00000200181.3	+	32	4206	c.4019G>A	c.(4018-4020)gGg>gAg	p.G1340E	ITGB4_ENST00000579662.1_Missense_Mutation_p.G1340E|ITGB4_ENST00000449880.2_Missense_Mutation_p.G1340E|ITGB4_ENST00000339591.3_Missense_Mutation_p.G1340E|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.G1340E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1340					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCAGAGCGGGGAGGACTAC	0.652																																						dbGAP											0													107.0	103.0	104.0					17																	73748569		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4019G>A	17.37:g.73748569G>A	ENSP00000200181:p.Gly1340Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.G1340E	ENST00000200181.3	37	c.4019	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451664	0.43531	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.78003	-1.14;-1.1;-1.1	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85769	0.1354	10	0.87932	D	0	.	16.9575	0.86263	0.0:0.0:1.0:0.0	.	1340;1340;1340	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	E	1340	ENSP00000200181:G1340E;ENSP00000344079:G1340E;ENSP00000400217:G1340E	ENSP00000200181:G1340E	G	+	2	0	ITGB4	71260164	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	7.698000	0.84413	2.207000	0.71202	0.561000	0.74099	GGG	ITGB4	-	pirsf_Integrin_bsu-4	ENSG00000132470		0.652	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	49	0.00	0	G			73748569	73748569	+1	no_errors	ENST00000200181	ensembl	human	known	69_37n	missense	30	42.59	23	SNP	1.000	A
IWS1	55677	genome.wustl.edu	37	2	128250923	128250923	+	Silent	SNP	T	T	G			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr2:128250923T>G	ENST00000295321.4	-	9	2122	c.1863A>C	c.(1861-1863)tcA>tcC	p.S621S	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	621	Interaction with SUPT6H and ALYREF.|TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGGTAGAGGTGAGAGCCATT	0.423																																						dbGAP											0													86.0	77.0	80.0					2																	128250923		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1863A>C	2.37:g.128250923T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.S621	ENST00000295321.4	37	c.1863	CCDS2146.1	2																																																																																			IWS1	-	superfamily_TFIIS_N	ENSG00000163166		0.423	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	117	0.85	1	T	NM_017969		128250923	128250923	-1	no_errors	ENST00000295321	ensembl	human	known	69_37n	silent	103	18.25	23	SNP	0.935	G
KCNH2	3757	genome.wustl.edu	37	7	150645546	150645546	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr7:150645546C>T	ENST00000262186.5	-	11	3079	c.2678G>A	c.(2677-2679)aGg>aAg	p.R893K	KCNH2_ENST00000330883.4_Missense_Mutation_p.R553K|KCNH2_ENST00000392968.2_Missense_Mutation_p.R797K	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	893					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GTCCGTGCGCCTGCGGAAGGA	0.647																																					GBM(137;110 1844 13671 20123 45161)	dbGAP											0													41.0	39.0	40.0					7																	150645546		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2678G>A	7.37:g.150645546C>T	ENSP00000262186:p.Arg893Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R893K	ENST00000262186.5	37	c.2678	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607824	0.46527	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	D;D;D	0.98666	-4.76;-4.85;-5.06	3.87	2.97	0.34412	.	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.66939	2.045	0.80722	D	1	B;B;B	0.22983	0.0;0.0;0.078	B;B;B	0.19666	0.001;0.001;0.026	D	0.92200	0.5767	10	0.06365	T	0.9	.	9.7087	0.40231	0.0:0.8936:0.0:0.1064	.	797;893;553	C4PFH9;Q12809;Q12809-2	.;KCNH2_HUMAN;.	K	553;797;893	ENSP00000328531:R553K;ENSP00000376695:R797K;ENSP00000262186:R893K	ENSP00000262186:R893K	R	-	2	0	KCNH2	150276479	0.117000	0.22190	1.000000	0.80357	0.920000	0.55202	2.406000	0.44557	0.957000	0.37930	0.491000	0.48974	AGG	KCNH2	-	NULL	ENSG00000055118		0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	42	0.00	0	C	NM_000238		150645546	150645546	-1	no_errors	ENST00000262186	ensembl	human	known	69_37n	missense	41	28.81	17	SNP	1.000	T
KCNQ3	3786	genome.wustl.edu	37	8	133182583	133182583	+	Silent	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr8:133182583G>A	ENST00000388996.4	-	8	1653	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	KCNQ3_ENST00000519445.1_Silent_p.F411F|KCNQ3_ENST00000521134.1_Silent_p.F291F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	411					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCACTTGCCTGAAGAAAGGAA	0.547																																						dbGAP											0													58.0	55.0	56.0					8																	133182583		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1233C>T	8.37:g.133182583G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.F411	ENST00000388996.4	37	c.1233	CCDS34943.1	8																																																																																			KCNQ3	-	NULL	ENSG00000184156		0.547	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	74	0.00	0	G	NM_004519		133182583	133182583	-1	no_errors	ENST00000388996	ensembl	human	known	69_37n	silent	57	32.56	28	SNP	1.000	A
KIF1B	23095	genome.wustl.edu	37	1	10364067	10364067	+	Intron	SNP	C	C	T	rs542546734		TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr1:10364067C>T	ENST00000377086.1	+	22	2317				RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377083.1_Missense_Mutation_p.R942C|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377093.4_Missense_Mutation_p.R942C			O60333	KIF1B_HUMAN	kinesin family member 1B						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)		AAAGCAGCTTCGTCGGCAGAA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20116	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													77.0	80.0	79.0					1																	10364067		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			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.2115+6763C>T	1.37:g.10364067C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R942C	ENST00000377086.1	37	c.2824		1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232373	0.58777	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.74209	-0.82;-0.82	5.38	5.38	0.77491	.	.	.	.	.	D	0.86957	0.6058	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.88359	0.2986	8	0.72032	D	0.01	.	19.1359	0.93428	0.0:1.0:0.0:0.0	.	942	O60333-3	.	C	942	ENSP00000366297:R942C;ENSP00000366287:R942C	ENSP00000366287:R942C	R	+	1	0	KIF1B	10286654	1.000000	0.71417	0.848000	0.33437	0.841000	0.47740	5.600000	0.67599	2.517000	0.84864	0.655000	0.94253	CGT	KIF1B	-	NULL	ENSG00000054523		0.507	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	118	0.00	0	C			10364067	10364067	+1	no_errors	ENST00000377083	ensembl	human	known	69_37n	missense	75	38.52	47	SNP	0.998	T
KIAA1804	84451	genome.wustl.edu	37	1	233482294	233482294	+	Silent	SNP	A	A	G			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr1:233482294A>G	ENST00000366624.3	+	2	1173	c.912A>G	c.(910-912)acA>acG	p.T304T	MLK4_ENST00000366623.3_Silent_p.T304T	NM_032435.2	NP_115811.2												p.T304T(1)									AAATGAGCACAGCAGGCACCT	0.463																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											101.0	94.0	96.0					1																	233482294		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000366624.3:c.912A>G	1.37:g.233482294A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.T304	ENST00000366624.3	37	c.912	CCDS1598.1	1																																																																																			RP5-862P8.2	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000143674		0.463	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Clone_based_vega_gene	protein_coding	OTTHUMT00000092495.1	194	0.00	0	A			233482294	233482294	+1	no_errors	ENST00000366624	ensembl	human	known	69_37n	silent	120	23.08	36	SNP	0.357	G
LYG1	129530	genome.wustl.edu	37	2	99907849	99907849	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr2:99907849T>C	ENST00000409448.1	-	6	500	c.184A>G	c.(184-186)Atg>Gtg	p.M62V	LYG1_ENST00000308528.4_Missense_Mutation_p.M62V			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	62					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGGTATGGCATGTCTATTTCA	0.483																																						dbGAP											0													150.0	120.0	130.0					2																	99907849		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.184A>G	2.37:g.99907849T>C	ENSP00000386923:p.Met62Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RV9	Missense_Mutation	SNP	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.M62V	ENST00000409448.1	37	c.184	CCDS2043.1	2	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870247	0.33069	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.68	0.51	0.16983	Lysozyme-like domain (1);	0.483859	0.21094	N	0.080269	T	0.17831	0.0428	N	0.19112	0.55	0.23221	N	0.998096	B	0.24426	0.103	B	0.22601	0.04	T	0.15723	-1.0427	8	.	.	.	-7.5749	5.3575	0.16069	0.1729:0.0:0.3583:0.4687	.	62	Q8N1E2	LYG1_HUMAN	V	62	.	.	M	-	1	0	LYG1	99274281	0.996000	0.38824	0.997000	0.53966	0.952000	0.60782	0.364000	0.20325	0.351000	0.24027	0.454000	0.30748	ATG	LYG1	-	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	ENSG00000144214		0.483	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYG1	HGNC	protein_coding	OTTHUMT00000330315.1	240	0.00	0	T	NM_174898		99907849	99907849	-1	no_errors	ENST00000308528	ensembl	human	known	69_37n	missense	226	23.39	69	SNP	0.996	C
MARCH5	54708	genome.wustl.edu	37	10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	267					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGCACACCGCAAAATTCTG	0.353																																						dbGAP											0													82.0	78.0	79.0					10																	94110927		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.800G>A	10.37:g.94110927G>A	ENSP00000351813:p.Arg267His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R267H	ENST00000358935.2	37	c.800	CCDS7420.1	10	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627017	0.87560	.	.	ENSG00000198060	ENST00000358935	T	0.70986	-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88657	0.3186	10	0.87932	D	0	-4.1613	19.6604	0.95864	0.0:0.0:1.0:0.0	.	267	Q9NX47	MARH5_HUMAN	H	267	ENSP00000351813:R267H	ENSP00000351813:R267H	R	+	2	0	MARCH5	94100907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.648000	0.89879	0.655000	0.94253	CGC	MARCH5	-	NULL	ENSG00000198060		0.353	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH5	HGNC	protein_coding	OTTHUMT00000049388.1	204	0.97	2	G	NM_017824		94110927	94110927	+1	no_errors	ENST00000358935	ensembl	human	known	69_37n	missense	218	12.00	30	SNP	1.000	A
NEAT1	283131	genome.wustl.edu	37	11	65211932	65211932	+	lincRNA	SNP	C	C	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr11:65211932C>A	ENST00000384994.1	+	0	4					NR_030343.1				nuclear paraspeckle assembly transcript 1 (non-protein coding)																		ctctgcttcccatctgGACCC	0.597																																						dbGAP											0													33.0	29.0	30.0					11																	65211932		1512	3474	4986	-	-	-			0			AF080092		11q13.1	2013-11-01	2009-07-24	2009-07-24	ENSG00000245532	ENSG00000245532		"""Long non-coding RNAs"", ""-"""	30815	non-coding RNA	RNA, long non-coding	"""trophoblast derived non-protein coding RNA"", ""nuclear enriched abundant transcript 1"", ""long intergenic non-protein coding RNA 84"", ""virus inducible non-coding RNA"""	612769	"""non-protein coding RNA 84"""	NCRNA00084		9253601, 9858482, 12565840	Standard	NR_028272		Approved	TncRNA, MENepsilon/beta, LINC00084, VINC	uc010rog.2		OTTHUMG00000166321		11.37:g.65211932C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000384994.1	37	NULL		11																																																																																			MIR612	-	-	ENSG00000207727		0.597	NEAT1-201	KNOWN	basic	miRNA	MIR612	HGNC	lincRNA		86	0.00	0	C	NR_028272		65211932	65211932	+1	no_errors	ENST00000384994	ensembl	human	known	69_37n	rna	78	27.10	29	SNP	0.005	A
NKX6-2	84504	genome.wustl.edu	37	10	134598422	134598422	+	Nonstop_Mutation	SNP	A	A	G			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr10:134598422A>G	ENST00000368592.5	-	3	935	c.832T>C	c.(832-834)Tga>Cga	p.*278R	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	0					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		GCGGGTCCTCACAAGGCGTCC	0.622																																						dbGAP											0													27.0	26.0	26.0					10																	134598422		2174	4283	6457	-	-	-	SO:0001578	stop_lost	0			AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"""Homeoboxes / ANTP class : NKL subclass"""	19321	protein-coding gene	gene with protein product		605955	"""NK6 transcription factor related, locus 2 (Drosophila)"""			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.832T>C	10.37:g.134598422A>G	ENSP00000357581:p.*278Glyext*?	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSF3	Nonstop_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain	p.*278R	ENST00000368592.5	37	c.832	CCDS7670.1	10	.	.	.	.	.	.	.	.	.	.	A	11.19	1.567123	0.28003	.	.	ENSG00000148826	ENST00000368592	.	.	.	2.98	1.78	0.24846	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0157	0.30379	0.8172:0.0:0.0:0.1828	.	.	.	.	R	278	.	.	X	-	1	0	NKX6-2	134448412	1.000000	0.71417	0.548000	0.28192	0.778000	0.44026	6.134000	0.71689	0.495000	0.27882	0.379000	0.24179	TGA	NKX6-2	-	NULL	ENSG00000148826		0.622	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX6-2	HGNC	protein_coding	OTTHUMT00000051093.2	70	0.00	0	A			134598422	134598422	-1	no_errors	ENST00000368592	ensembl	human	known	69_37n	nonstop	82	14.43	14	SNP	1.000	G
NRK	203447	genome.wustl.edu	37	X	105152799	105152799	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chrX:105152799C>A	ENST00000243300.9	+	13	1469	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H	NRK_ENST00000428173.2_Missense_Mutation_p.P390H	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	389					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P390Q(1)|p.P390H(1)|p.P389Q(1)|p.P389H(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CATGGGGAACCCTCTCAGCCA	0.542										HNSCC(51;0.14)																												dbGAP											4	Substitution - Missense(4)	lung(4)											47.0	48.0	48.0					X																	105152799		2030	4175	6205	-	-	-	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1166C>A	X.37:g.105152799C>A	ENSP00000434830:p.Pro389His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.P390H	ENST00000243300.9	37	c.1169		X	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567354	0.45694	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78126	-1.15;-1.11	5.05	2.01	0.26516	.	0.145336	0.32548	N	0.005956	T	0.58793	0.2147	N	0.24115	0.695	0.26583	N	0.973333	P;B	0.39181	0.663;0.243	B;B	0.38264	0.269;0.079	T	0.49670	-0.8915	10	0.17369	T	0.5	.	7.0705	0.25175	0.187:0.4553:0.3576:0.0	.	57;389	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	H	389;390	ENSP00000434830:P389H;ENSP00000438378:P390H	ENSP00000434830:P389H	P	+	2	0	NRK	105039455	0.499000	0.26083	0.347000	0.25668	0.988000	0.76386	0.607000	0.24209	0.586000	0.29626	0.600000	0.82982	CCC	NRK	-	NULL	ENSG00000123572		0.542	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	64	0.00	0	C	NM_198465		105152799	105152799	+1	no_errors	ENST00000428173	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	0.255	A
TENM1	10178	genome.wustl.edu	37	X	123556236	123556236	+	Missense_Mutation	SNP	C	C	T	rs202162254		TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chrX:123556236C>T	ENST00000371130.3	-	23	4399	c.4336G>A	c.(4336-4338)Gag>Aag	p.E1446K	TENM1_ENST00000422452.2_Missense_Mutation_p.E1453K|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1446					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACTTTCCTCTCGTCTGTTTCA	0.507													C|||	1	0.000264901	0.0	0.0	3775	,	,		13203	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													173.0	126.0	142.0					X																	123556236		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4336G>A	X.37:g.123556236C>T	ENSP00000360171:p.Glu1446Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.E1453K	ENST00000371130.3	37	c.4357	CCDS14609.1	X	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	34	5.407791	0.96051	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90261	-2.64;-2.64	5.68	4.81	0.61882	Six-bladed beta-propeller, TolB-like (1);	0.056244	0.64402	D	0.000001	D	0.90331	0.6975	M	0.75264	2.295	0.80722	D	1	D;P;D	0.62365	0.991;0.925;0.979	B;B;B	0.43680	0.427;0.195;0.254	D	0.89707	0.3909	10	0.48119	T	0.1	.	13.9826	0.64315	0.0:0.9254:0.0:0.0746	.	1452;1453;1446	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	1446;1453	ENSP00000360171:E1446K;ENSP00000403954:E1453K	ENSP00000360171:E1446K	E	-	1	0	ODZ1	123383917	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	7.818000	0.86416	1.168000	0.42723	0.594000	0.82650	GAG	ODZ1	-	NULL	ENSG00000009694		0.507	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	141	0.00	0	C	NM_014253		123556236	123556236	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	missense	117	15.83	22	SNP	1.000	T
PKHD1L1	93035	genome.wustl.edu	37	8	110461681	110461681	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr8:110461681A>C	ENST00000378402.5	+	40	6244	c.6140A>C	c.(6139-6141)tAc>tCc	p.Y2047S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2047	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGATCTGATTACACAACACTA	0.333										HNSCC(38;0.096)																												dbGAP											0													64.0	62.0	62.0					8																	110461681		1831	4078	5909	-	-	-	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6140A>C	8.37:g.110461681A>C	ENSP00000367655:p.Tyr2047Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.Y2047S	ENST00000378402.5	37	c.6140	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	2.769	-0.256110	0.05829	.	.	ENSG00000205038	ENST00000378402	T	0.72505	-0.66	5.51	-7.61	0.01299	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.759174	0.12316	N	0.479738	T	0.34279	0.0892	N	0.03948	-0.315	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44847	-0.9301	10	0.08381	T	0.77	.	8.389	0.32518	0.308:0.4162:0.2758:0.0	.	2047	Q86WI1	PKHL1_HUMAN	S	2047	ENSP00000367655:Y2047S	ENSP00000367655:Y2047S	Y	+	2	0	PKHD1L1	110530857	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	-0.145000	0.10265	-0.867000	0.04063	0.482000	0.46254	TAC	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000205038		0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	234	0.00	0	A	NM_177531		110461681	110461681	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	179	13.11	27	SNP	0.000	C
PNPLA7	375775	genome.wustl.edu	37	9	140400143	140400143	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr9:140400143C>T	ENST00000277531.4	-	13	1507	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	PNPLA7_ENST00000371457.1_Missense_Mutation_p.E47K|PNPLA7_ENST00000406427.1_Missense_Mutation_p.E466K	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	441				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCAGGGTCTCATCCGTGTGA	0.582																																						dbGAP											0													161.0	143.0	149.0					9																	140400143		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1321G>A	9.37:g.140400143C>T	ENSP00000277531:p.Glu441Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E466K	ENST00000277531.4	37	c.1396	CCDS7045.1	9	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255061	0.22965	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.70869	-0.52;0.3;0.29;0.3	4.26	2.37	0.29283	.	13.730300	0.00166	N	0.000000	T	0.70666	0.3250	M	0.78801	2.425	0.58432	D	0.999995	P;B	0.43352	0.804;0.049	B;B	0.40375	0.327;0.01	T	0.59847	-0.7377	10	0.11182	T	0.66	-8.4433	6.8757	0.24145	0.0:0.7257:0.1768:0.0975	.	466;441	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	K	47;441;466;441;432	ENSP00000360512:E47K;ENSP00000277531:E441K;ENSP00000384610:E466K;ENSP00000400582:E432K	ENSP00000277531:E441K	E	-	1	0	PNPLA7	139519964	0.208000	0.23494	0.010000	0.14722	0.020000	0.10135	1.911000	0.39937	0.255000	0.21593	-0.225000	0.12378	GAG	PNPLA7	-	NULL	ENSG00000130653		0.582	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	163	0.00	0	C	NM_152286		140400143	140400143	-1	no_errors	ENST00000406427	ensembl	human	known	69_37n	missense	81	48.10	76	SNP	0.677	T
SEPT1	1731	genome.wustl.edu	37	16	30392785	30392785	+	Silent	SNP	C	C	A	rs371180473		TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr16:30392785C>A	ENST00000571393.1	-	6	501	c.315G>T	c.(313-315)ccG>ccT	p.P105P	SEPT1_ENST00000321367.3_Silent_p.P152P|SEPT1_ENST00000605106.1_Silent_p.P110P|SEPT1_ENST00000570039.1_5'Flank			Q8WYJ6	SEPT1_HUMAN	septin 1	105	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			ATTTCACCACCGGAAGCCAGC	0.557																																						dbGAP											0													90.0	86.0	88.0					16																	30392785		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.315G>T	16.37:g.30392785C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.R69L	ENST00000571393.1	37	c.206		16																																																																																			SEPT1	-	NULL	ENSG00000180096		0.557	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		113	0.00	0	C	NM_052838		30392785	30392785	-1	no_errors	ENST00000572252	ensembl	human	known	69_37n	missense	111	23.29	34	SNP	0.001	A
SHANK2	22941	genome.wustl.edu	37	11	70338443	70338443	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr11:70338443C>A	ENST00000423696.2	-	12	1335	c.1299G>T	c.(1297-1299)atG>atT	p.M433I	SHANK2_ENST00000449116.2_Missense_Mutation_p.M214I|SHANK2_ENST00000409161.1_Missense_Mutation_p.M216I|SHANK2_ENST00000409530.1_Missense_Mutation_p.M223I|SHANK2_ENST00000449833.2_Missense_Mutation_p.M217I|SHANK2_ENST00000338508.4_Missense_Mutation_p.M813I|SHANK2_ENST00000357171.3_Missense_Mutation_p.M224I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	433					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CACTCACGTTCATGTCTGAGC	0.662																																						dbGAP											0													29.0	30.0	30.0					11																	70338443		2199	4291	6490	-	-	-	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1299G>T	11.37:g.70338443C>A	ENSP00000394536:p.Met433Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E223*	ENST00000423696.2	37	c.667		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.581|9.581	1.123667|1.123667	0.20959|0.20959	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000412252|ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171	.|T;T;T;T;T;T;T;T;T	.|0.54071	.|2.59;2.59;3.32;1.28;2.72;2.71;0.97;0.59;0.98	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|2.279510	.|0.01828	.|N	.|0.034515	.|T	.|0.44456	.|0.1294	N|N	0.25286|0.25286	0.73|0.73	0.46011|0.46011	D|D	0.998818|0.998818	.|B;B;B;B	.|0.13594	.|0.0;0.0;0.008;0.0	.|B;B;B;B	.|0.20184	.|0.001;0.002;0.028;0.004	.|T	.|0.05053	.|-1.0909	.|10	.|0.21540	.|T	.|0.41	.|.	11.2369|11.2369	0.48946|0.48946	0.0:0.9152:0.0:0.0848|0.0:0.9152:0.0:0.0848	.|.	.|214;433;812;217	.|B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4	.|.;SHAN2_HUMAN;.;.	X|I	223|217;216;91;813;433;451;436;223;214;224	.|ENSP00000399423:M217I;ENSP00000386491:M216I;ENSP00000402944:M91I;ENSP00000345193:M813I;ENSP00000394536:M433I;ENSP00000294018:M436I;ENSP00000387324:M223I;ENSP00000394939:M214I;ENSP00000349694:M224I	.|ENSP00000294018:M436I	E|M	-|-	1|3	0|0	SHANK2|SHANK2	70016091|70016091	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.287000|0.287000	0.27160|0.27160	1.665000|1.665000	0.37449|0.37449	2.238000|2.238000	0.73509|0.73509	0.650000|0.650000	0.86243|0.86243	GAA|ATG	SHANK2	-	NULL	ENSG00000162105		0.662	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		22	0.00	0	C	NM_012309		70338443	70338443	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000412252	ensembl	human	novel	69_37n	nonsense	19	44.12	15	SNP	1.000	A
SIGLEC8	27181	genome.wustl.edu	37	19	51961309	51961309	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr19:51961309G>C	ENST00000321424.3	-	1	399	c.333C>G	c.(331-333)atC>atG	p.I111M	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.I111M|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.I111M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	111	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCGTCTCTGATGCTCAGGG	0.498																																						dbGAP											0													161.0	152.0	155.0					19																	51961309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.333C>G	19.37:g.51961309G>C	ENSP00000321077:p.Ile111Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z728	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I111M	ENST00000321424.3	37	c.333	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	11.07	1.530456	0.27387	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.74947	-0.89;-0.89;-0.89	2.56	1.49	0.22878	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.39909	N	0.001237	D	0.87140	0.6103	H	0.95079	3.62	0.09310	N	1	D;D;D	0.89917	0.99;0.996;1.0	D;D;D	0.91635	0.995;0.998;0.999	T	0.76523	-0.2928	10	0.87932	D	0	.	5.424	0.16415	0.1714:0.0:0.8286:0.0	.	111;111;111	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	M	111	ENSP00000389142:I111M;ENSP00000321077:I111M;ENSP00000339448:I111M	ENSP00000321077:I111M	I	-	3	3	SIGLEC8	56653121	0.459000	0.25768	0.092000	0.20876	0.023000	0.10783	1.067000	0.30616	0.397000	0.25310	-0.506000	0.04501	ATC	SIGLEC8	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000105366		0.498	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	350	0.00	0	G	NM_014442		51961309	51961309	-1	no_errors	ENST00000321424	ensembl	human	known	69_37n	missense	205	43.84	160	SNP	0.077	C
SLC1A4	6509	genome.wustl.edu	37	2	65217239	65217239	+	Silent	SNP	G	G	T			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr2:65217239G>T	ENST00000234256.3	+	1	705	c.462G>T	c.(460-462)ggG>ggT	p.G154G	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	154					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GCGACCTGGGGCTGGAGGACT	0.647																																						dbGAP											0													22.0	23.0	23.0					2																	65217239		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.462G>T	2.37:g.65217239G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3C0|D6W5F0	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.G154	ENST00000234256.3	37	c.462	CCDS1879.1	2																																																																																			SLC1A4	-	pfam_Na-dicarboxylate_symporter	ENSG00000115902		0.647	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A4	HGNC	protein_coding	OTTHUMT00000251726.2	41	0.00	0	G	NM_003038		65217239	65217239	+1	no_errors	ENST00000234256	ensembl	human	known	69_37n	silent	9	52.63	10	SNP	0.736	T
TANC1	85461	genome.wustl.edu	37	2	160006902	160006902	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr2:160006902A>C	ENST00000263635.6	+	7	754	c.517A>C	c.(517-519)Atc>Ctc	p.I173L	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	173	Ser-rich.				dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAGTCAAGGCATCAGTCCTTG	0.502																																						dbGAP											0													56.0	57.0	57.0					2																	160006902		2134	4243	6377	-	-	-	SO:0001583	missense	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.517A>C	2.37:g.160006902A>C	ENSP00000263635:p.Ile173Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.I173L	ENST00000263635.6	37	c.517	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944368	0.53079	.	.	ENSG00000115183	ENST00000263635	T	0.45276	0.9	5.46	3.1	0.35709	.	0.352369	0.28176	N	0.016301	T	0.36908	0.0984	L	0.58101	1.795	0.80722	D	1	B;B	0.15141	0.012;0.0	B;B	0.11329	0.006;0.003	T	0.17319	-1.0373	10	0.54805	T	0.06	.	8.0664	0.30663	0.7156:0.0:0.2844:0.0	.	172;173	B9EK39;Q9C0D5	.;TANC1_HUMAN	L	173	ENSP00000263635:I173L	ENSP00000263635:I173L	I	+	1	0	TANC1	159715148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.920000	0.63390	0.470000	0.27294	0.533000	0.62120	ATC	TANC1	-	NULL	ENSG00000115183		0.502	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	114	0.00	0	A			160006902	160006902	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	missense	103	17.60	22	SNP	1.000	C
TNN	63923	genome.wustl.edu	37	1	175046741	175046741	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr1:175046741C>G	ENST00000239462.4	+	2	300	c.187C>G	c.(187-189)Cag>Gag	p.Q63E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	63					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)		CGCTGACCCTCAGCCCCTCAG	0.597																																						dbGAP											0													79.0	54.0	62.0					1																	175046741		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.187C>G	1.37:g.175046741C>G	ENSP00000239462:p.Gln63Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.Q63E	ENST00000239462.4	37	c.187	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.309127	0.01342	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.23754	1.89	5.51	3.53	0.40419	.	0.882121	0.10020	N	0.726095	T	0.13072	0.0317	N	0.24115	0.695	0.09310	N	1	B;B	0.29716	0.255;0.031	B;B	0.29598	0.104;0.013	T	0.31280	-0.9949	10	0.02654	T	1	.	4.8806	0.13677	0.2694:0.5275:0.1306:0.0724	.	63;63	B3KXB6;Q9UQP3	.;TENN_HUMAN	E	63	ENSP00000239462:Q63E	ENSP00000239462:Q63E	Q	+	1	0	TNN	173313364	0.000000	0.05858	0.130000	0.21974	0.731000	0.41821	0.275000	0.18698	1.294000	0.44707	0.655000	0.94253	CAG	TNN	-	NULL	ENSG00000120332		0.597	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	40	0.00	0	C	XM_040527		175046741	175046741	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	0.001	G
TOPBP1	11073	genome.wustl.edu	37	3	133347430	133347430	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr3:133347430G>C	ENST00000260810.5	-	15	2799	c.2668C>G	c.(2668-2670)Caa>Gaa	p.Q890E		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	890					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTCAGTTGAGGGCTGGCA	0.393								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													64.0	61.0	62.0					3																	133347430		1918	4139	6057	-	-	-	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2668C>G	3.37:g.133347430G>C	ENSP00000260810:p.Gln890Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.Q890E	ENST00000260810.5	37	c.2668	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	G	6.892	0.534054	0.13188	.	.	ENSG00000163781	ENST00000260810	T	0.11821	2.74	5.31	4.38	0.52667	.	0.380247	0.32473	N	0.006050	T	0.13329	0.0323	L	0.55481	1.735	0.38800	D	0.955173	B	0.14805	0.011	B	0.12837	0.008	T	0.08764	-1.0706	10	0.02654	T	1	.	16.5688	0.84606	0.0:0.1301:0.8699:0.0	.	890	Q92547	TOPB1_HUMAN	E	890	ENSP00000260810:Q890E	ENSP00000260810:Q890E	Q	-	1	0	TOPBP1	134830120	1.000000	0.71417	0.978000	0.43139	0.451000	0.32288	2.531000	0.45650	2.628000	0.89032	0.650000	0.86243	CAA	TOPBP1	-	NULL	ENSG00000163781		0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	253	0.00	0	G	NM_007027		133347430	133347430	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	missense	176	21.33	48	SNP	0.996	C
TRIM14	9830	genome.wustl.edu	37	9	100862335	100862335	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr9:100862335G>A	ENST00000341469.2	-	3	424	c.415C>T	c.(415-417)Ctt>Ttt	p.L139F	TRIM14_ENST00000342043.3_Missense_Mutation_p.L139F|TRIM14_ENST00000375098.3_Missense_Mutation_p.L139F	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	139					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				TGGAGGGTAAGCTGCGTGTTT	0.473																																					Colon(14;460 597 13826 51781)	dbGAP											0													136.0	129.0	131.0					9																	100862335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.415C>T	9.37:g.100862335G>A	ENSP00000344208:p.Leu139Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.L139F	ENST00000341469.2	37	c.415	CCDS6734.1	9	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262830	0.59431	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	T;T;T	0.58506	0.33;0.33;0.33	5.12	3.21	0.36854	.	0.395398	0.21807	N	0.068840	T	0.67748	0.2926	M	0.65975	2.015	0.44417	D	0.99733	P;D;D	0.71674	0.94;0.995;0.998	P;P;D	0.64321	0.534;0.89;0.924	T	0.68644	-0.5354	10	0.59425	D	0.04	.	8.1222	0.30978	0.0848:0.0:0.7586:0.1566	.	139;139;139	Q14142-2;Q548W9;Q14142	.;.;TRI14_HUMAN	F	139	ENSP00000364239:L139F;ENSP00000344208:L139F;ENSP00000343990:L139F	ENSP00000344208:L139F	L	-	1	0	TRIM14	99902156	0.803000	0.28956	0.794000	0.32065	0.024000	0.10985	2.561000	0.45905	1.385000	0.46445	-0.251000	0.11542	CTT	TRIM14	-	NULL	ENSG00000106785		0.473	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM14	HGNC	protein_coding	OTTHUMT00000053350.1	337	0.00	0	G	NM_014788		100862335	100862335	-1	no_errors	ENST00000341469	ensembl	human	known	69_37n	missense	212	24.01	67	SNP	0.601	A
TRPC5	7224	genome.wustl.edu	37	X	111097215	111097215	+	Silent	SNP	C	C	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chrX:111097215C>A	ENST00000262839.2	-	4	1938	c.1020G>T	c.(1018-1020)ctG>ctT	p.L340L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	340					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCATGGGAAACAGGAACCCAA	0.512																																						dbGAP											0													93.0	79.0	84.0					X																	111097215		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1020G>T	X.37:g.111097215C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.L340	ENST00000262839.2	37	c.1020	CCDS14561.1	X																																																																																			TRPC5	-	tigrfam_TRP_channel	ENSG00000072315		0.512	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	130	0.00	0	C	NM_012471		111097215	111097215	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	silent	114	25.97	40	SNP	1.000	A
TYW3	127253	genome.wustl.edu	37	1	75229641	75229641	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr1:75229641C>G	ENST00000370867.3	+	6	713	c.624C>G	c.(622-624)atC>atG	p.I208M	TYW3_ENST00000421739.2_Missense_Mutation_p.I124M|TYW3_ENST00000479111.1_Missense_Mutation_p.I88M|TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000457880.2_Missense_Mutation_p.I175M	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	208					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ATCCCAAGATCAAAGAGAAAA	0.333																																						dbGAP											0													85.0	91.0	89.0					1																	75229641		2203	4299	6502	-	-	-	SO:0001583	missense	0			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.624C>G	1.37:g.75229641C>G	ENSP00000359904:p.Ile208Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising	p.I208M	ENST00000370867.3	37	c.624	CCDS666.1	1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064903	0.55432	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T	0.44482	0.92;1.5	5.17	2.1	0.27182	.	0.958902	0.08773	N	0.895988	T	0.30727	0.0774	M	0.62723	1.935	0.09310	N	1	D;P;P	0.61697	0.99;0.913;0.947	P;B;B	0.53593	0.73;0.339;0.339	T	0.10200	-1.0640	10	0.42905	T	0.14	0.267	3.802	0.08761	0.1685:0.5779:0.1631:0.0905	.	124;175;208	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	M	175;208;124	ENSP00000407025:I175M;ENSP00000359904:I208M	ENSP00000359904:I208M	I	+	3	3	TYW3	75002229	0.117000	0.22190	0.273000	0.24645	0.641000	0.38312	0.335000	0.19806	0.739000	0.32628	0.655000	0.94253	ATC	TYW3	-	NULL	ENSG00000162623		0.333	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW3	HGNC	protein_coding	OTTHUMT00000026573.1	175	0.00	0	C	NM_138467		75229641	75229641	+1	no_errors	ENST00000370867	ensembl	human	known	69_37n	missense	77	36.36	44	SNP	0.052	G
UNC119B	84747	genome.wustl.edu	37	12	121148295	121148295	+	Silent	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr12:121148295G>A	ENST00000344651.4	+	1	58	c.18G>A	c.(16-18)ccG>ccA	p.P6P		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	6					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGTCTAACCCGAAGGCTGCGG	0.751																																						dbGAP											0													3.0	4.0	4.0					12																	121148295		1648	3605	5253	-	-	-	SO:0001819	synonymous_variant	0				CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog B (Chlamydomonas)"""		"""unc119 (C.elegans) homolog B"""				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.18G>A	12.37:g.121148295G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_GMP_PDE_delta,superfamily_Ig_E-set	p.P6	ENST00000344651.4	37	c.18	CCDS31914.1	12																																																																																			UNC119B	-	NULL	ENSG00000175970		0.751	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC119B	HGNC	protein_coding	OTTHUMT00000402857.1	12	0.00	0	G	NM_001080533		121148295	121148295	+1	no_errors	ENST00000344651	ensembl	human	known	69_37n	silent	10	47.37	9	SNP	0.836	A
VPS45	11311	genome.wustl.edu	37	1	150054883	150054883	+	Silent	SNP	A	A	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr1:150054883A>C	ENST00000369130.3	+	10	1566	c.1020A>C	c.(1018-1020)cgA>cgC	p.R340R	VPS45_ENST00000535106.1_Silent_p.R271R|VPS45_ENST00000369128.5_Silent_p.R235R	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	340					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGTCTCGATTGGTCAGTG	0.453																																						dbGAP											0													151.0	146.0	148.0					1																	150054883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1020A>C	1.37:g.150054883A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.R340	ENST00000369130.3	37	c.1020	CCDS944.1	1																																																																																			VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.453	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	254	0.00	0	A	NM_007259		150054883	150054883	+1	no_errors	ENST00000369130	ensembl	human	known	69_37n	silent	347	12.78	51	SNP	0.998	C
WBSCR22	114049	genome.wustl.edu	37	7	73100970	73100970	+	Silent	SNP	C	C	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr7:73100970C>A	ENST00000265758.2	+	3	149	c.91C>A	c.(91-93)Cgg>Agg	p.R31R	WBSCR22_ENST00000423166.2_Silent_p.R54R|WBSCR22_ENST00000423497.1_Silent_p.R31R|WBSCR22_ENST00000464615.1_3'UTR	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	31					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R31W(1)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				TACCAGCTCACGGATGATTGA	0.448																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											170.0	170.0	170.0					7																	73100970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.91C>A	7.37:g.73100970C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Silent	SNP	pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11	p.R31	ENST00000265758.2	37	c.91	CCDS5557.1	7																																																																																			WBSCR22	-	NULL	ENSG00000071462		0.448	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR22	HGNC	protein_coding	OTTHUMT00000252303.1	354	0.00	0	C			73100970	73100970	+1	no_errors	ENST00000265758	ensembl	human	known	69_37n	silent	241	24.45	78	SNP	0.991	A
ZNF611	81856	genome.wustl.edu	37	19	53208630	53208630	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr19:53208630G>C	ENST00000319783.1	-	7	1994	c.1678C>G	c.(1678-1680)Cat>Gat	p.H560D	ZNF611_ENST00000602162.1_Missense_Mutation_p.H491D|ZNF611_ENST00000543227.1_Missense_Mutation_p.H560D|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000453741.2_Missense_Mutation_p.H491D|ZNF611_ENST00000595798.1_Missense_Mutation_p.H491D|ZNF611_ENST00000540744.1_Missense_Mutation_p.H560D	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	560					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(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCACTATGAATTCTAGTA	0.408																																						dbGAP											0													198.0	193.0	195.0					19																	53208630		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1678C>G	19.37:g.53208630G>C	ENSP00000322427:p.His560Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRD5|Q69YG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H560D	ENST00000319783.1	37	c.1678	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	12.33	1.904903	0.33628	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	1.47	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85474	0.5705	H	0.96518	3.835	0.28516	N	0.9133	D	0.89917	1.0	D	0.97110	1.0	T	0.76889	-0.2792	9	0.87932	D	0	.	9.8976	0.41329	0.0:0.0:1.0:0.0	.	560	Q8N823	ZN611_HUMAN	D	560;560;491;560	ENSP00000437616:H560D;ENSP00000439211:H560D;ENSP00000443505:H491D;ENSP00000322427:H560D	ENSP00000322427:H560D	H	-	1	0	ZNF611	57900442	1.000000	0.71417	0.407000	0.26434	0.244000	0.25665	5.608000	0.67654	0.788000	0.33755	0.194000	0.17425	CAT	ZNF611	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213020		0.408	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	271	0.37	1	G	NM_030972		53208630	53208630	-1	no_errors	ENST00000319783	ensembl	human	known	69_37n	missense	193	39.31	125	SNP	1.000	C
ZNF665	79788	genome.wustl.edu	37	19	53668314	53668314	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1AZ-01A-11D-A12Q-09	TCGA-E2-A1AZ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f961c932-cf37-47c8-8520-8d0d444dc94f	d486a6d4-f7b9-4df1-b14f-df434c457363	g.chr19:53668314G>A	ENST00000600412.1	-	2	1349	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	ZNF665_ENST00000396424.3_Missense_Mutation_p.R477W|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	412					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(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCCCCGATGACTTGCA	0.423																																						dbGAP											0													84.0	88.0	87.0					19																	53668314		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1234C>T	19.37:g.53668314G>A	ENSP00000469154:p.Arg412Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5T8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R477W	ENST00000600412.1	37	c.1429		19	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045909	0.36085	.	.	ENSG00000197497	ENST00000396424	T	0.07688	3.17	2.55	-3.81	0.04294	.	.	.	.	.	T	0.09949	0.0244	L	0.43757	1.38	0.09310	N	1	D	0.60160	0.987	P	0.54100	0.742	T	0.10268	-1.0637	9	0.87932	D	0	.	1.222	0.01926	0.2119:0.3197:0.3059:0.1625	.	477	Q9H7R5-2	.	W	477	ENSP00000379702:R477W	ENSP00000379702:R477W	R	-	1	2	ZNF665	58360126	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	-0.055000	0.11807	-0.896000	0.03915	-0.300000	0.09419	CGG	ZNF665	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197497		0.423	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	HGNC	protein_coding	OTTHUMT00000464179.1	120	0.00	0	G	NM_024733		53668314	53668314	-1	no_errors	ENST00000396424	ensembl	human	known	69_37n	missense	130	17.20	27	SNP	0.007	A
