#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
ABHD2	11057	genome.wustl.edu	37	15	89731456	89731456	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr15:89731456C>T	ENST00000352732.5	+	8	1368	c.848C>T	c.(847-849)cCc>cTc	p.P283L	ABHD2_ENST00000565973.1_Missense_Mutation_p.P283L|ABHD2_ENST00000355100.3_Missense_Mutation_p.P283L	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	283					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GTTAAGAAACCCCAGAGCCTG	0.498																																					Colon(11;252 417 24570 33239 41878)	dbGAP											0													116.0	102.0	107.0					15																	89731456		2200	4299	6499	-	-	-	SO:0001583	missense	0			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.848C>T	15.37:g.89731456C>T	ENSP00000268129:p.Pro283Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.P283L	ENST00000352732.5	37	c.848	CCDS10348.1	15	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171619	0.38315	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.60171	0.21;0.21	5.59	5.59	0.84812	Alpha/beta hydrolase fold-1 (1);	0.360115	0.33092	N	0.005281	T	0.38321	0.1036	N	0.08118	0	0.53688	D	0.99997	B	0.16166	0.016	B	0.21151	0.033	T	0.21415	-1.0246	10	0.27785	T	0.31	0.3965	14.4423	0.67325	0.1472:0.8528:0.0:0.0	.	283	P08910	ABHD2_HUMAN	L	283	ENSP00000268129:P283L;ENSP00000347217:P283L	ENSP00000268129:P283L	P	+	2	0	ABHD2	87532460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.417000	0.44653	2.622000	0.88805	0.650000	0.86243	CCC	ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	ENSG00000140526		0.498	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	111	0.89	1	C			89731456	89731456	+1	no_errors	ENST00000352732	ensembl	human	known	69_37n	missense	109	14.17	18	SNP	1.000	T
AKAP11	11215	genome.wustl.edu	37	13	42876522	42876522	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr13:42876522G>A	ENST00000025301.2	+	8	3815	c.3640G>A	c.(3640-3642)Gca>Aca	p.A1214T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1214					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.A1214T(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AACTGAAATGGCAGCTTCCCA	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											57.0	62.0	60.0					13																	42876522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3640G>A	13.37:g.42876522G>A	ENSP00000025301:p.Ala1214Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.A1214T	ENST00000025301.2	37	c.3640	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148099	0.78001	.	.	ENSG00000023516	ENST00000025301	T	0.60040	0.22	5.8	4.95	0.65309	.	0.071061	0.53938	D	0.000044	T	0.71375	0.3332	M	0.71581	2.175	0.45946	D	0.998774	D	0.63046	0.992	P	0.56865	0.808	T	0.76019	-0.3112	10	0.72032	D	0.01	.	16.8169	0.85736	0.0:0.1287:0.8713:0.0	.	1214	Q9UKA4	AKA11_HUMAN	T	1214	ENSP00000025301:A1214T	ENSP00000025301:A1214T	A	+	1	0	AKAP11	41774522	1.000000	0.71417	0.904000	0.35570	0.989000	0.77384	6.778000	0.75043	1.417000	0.47077	0.655000	0.94253	GCA	AKAP11	-	NULL	ENSG00000023516		0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	57	0.00	0	G	NM_016248		42876522	42876522	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	1.000	A
AKNAD1	254268	genome.wustl.edu	37	1	109394956	109394956	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr1:109394956C>G	ENST00000370001.3	-	2	599	c.331G>C	c.(331-333)Gat>Cat	p.D111H	AKNAD1_ENST00000369994.1_Missense_Mutation_p.D111H|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.D111H	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	111						cytoplasm (GO:0005737)		p.D111H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGTAAAATATCAGAAATGCTT	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)											85.0	86.0	86.0					1																	109394956		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.331G>C	1.37:g.109394956C>G	ENSP00000359018:p.Asp111His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	pfam_TF_AT-hook	p.D111H	ENST00000370001.3	37	c.331	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	C	9.952	1.220360	0.22457	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.12465	2.72;2.78;2.68	5.92	1.84	0.25277	.	0.488932	0.21058	N	0.080861	T	0.10208	0.0250	M	0.69823	2.125	0.09310	N	0.999999	D	0.63880	0.993	P	0.52031	0.688	T	0.09292	-1.0681	10	0.87932	D	0	-1.9316	5.0712	0.14608	0.1337:0.5115:0.0:0.3548	.	111	Q5T1N1	AKND1_HUMAN	H	111	ENSP00000359018:D111H;ENSP00000359011:D111H;ENSP00000359012:D111H	ENSP00000359011:D111H	D	-	1	0	AKNAD1	109196479	0.960000	0.32886	0.022000	0.16811	0.006000	0.05464	0.635000	0.24629	0.080000	0.16959	0.655000	0.94253	GAT	AKNAD1	-	NULL	ENSG00000162641		0.398	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	109	0.00	0	C	NM_152763		109394956	109394956	-1	no_errors	ENST00000370001	ensembl	human	known	69_37n	missense	45	52.13	49	SNP	0.066	G
CARF	79800	genome.wustl.edu	37	2	203826027	203826027	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr2:203826027A>G	ENST00000402905.3	+	8	1031	c.710A>G	c.(709-711)cAc>cGc	p.H237R	CARF_ENST00000471271.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.H237R|CARF_ENST00000320443.8_Missense_Mutation_p.H237R|CARF_ENST00000428585.1_Missense_Mutation_p.H161R|CARF_ENST00000545253.1_Missense_Mutation_p.H149R|CARF_ENST00000545262.1_Missense_Mutation_p.H161R|CARF_ENST00000434998.1_Missense_Mutation_p.H135R|CARF_ENST00000414439.1_Missense_Mutation_p.H135R|CARF_ENST00000456821.2_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.H237R	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	237					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H237R(1)									CTAACATTTCACAAGCAGCAA	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											84.0	81.0	82.0					2																	203826027		1890	4127	6017	-	-	-	SO:0001583	missense	0			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.710A>G	2.37:g.203826027A>G	ENSP00000384006:p.His237Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.H237R	ENST00000402905.3	37	c.710	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430398	0.83776	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.60534	0.2276	L	0.34521	1.04	0.50632	D	0.999881	D;D;D;D	0.58970	0.978;0.978;0.978;0.984	P;P;P;P	0.55303	0.773;0.773;0.773;0.656	T	0.64879	-0.6303	9	0.72032	D	0.01	-9.7876	14.4433	0.67333	1.0:0.0:0.0:0.0	.	149;161;237;237	B4DIA7;G3V1K7;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	R	237;237;135;161;149;161;135;237;237	.	ENSP00000316224:H237R	H	+	2	0	ALS2CR8	203534272	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.147000	0.77382	2.004000	0.58718	0.460000	0.39030	CAC	ALS2CR8	-	NULL	ENSG00000138380		0.433	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CR8	HGNC	protein_coding	OTTHUMT00000335768.5	83	0.00	0	A	NM_001104586		203826027	203826027	+1	no_errors	ENST00000320443	ensembl	human	known	69_37n	missense	79	35.25	43	SNP	1.000	G
ARAP3	64411	genome.wustl.edu	37	5	141059669	141059669	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr5:141059669G>C	ENST00000239440.4	-	2	450	c.385C>G	c.(385-387)Cca>Gca	p.P129A	ARAP3_ENST00000508305.1_Missense_Mutation_p.P51A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	129	Pro-rich.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.P129A(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGGGCTCTGGGCTCCTGGAC	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											82.0	103.0	96.0					5																	141059669		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.385C>G	5.37:g.141059669G>C	ENSP00000239440:p.Pro129Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.P129A	ENST00000239440.4	37	c.385	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381690	0.24944	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.19250	2.62;3.14;2.16	4.17	3.21	0.36854	.	0.462115	0.18403	N	0.142320	T	0.10680	0.0261	N	0.19112	0.55	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.11329	0.006;0.003	T	0.14144	-1.0483	10	0.15066	T	0.55	.	5.0042	0.14280	0.2123:0.0:0.7877:0.0	.	51;129	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	A	51;51;129;129	ENSP00000421826:P51A;ENSP00000239440:P129A;ENSP00000421148:P129A	ENSP00000239440:P129A	P	-	1	0	ARAP3	141039853	0.943000	0.32029	0.998000	0.56505	0.779000	0.44077	1.430000	0.34914	0.797000	0.33971	0.313000	0.20887	CCA	ARAP3	-	NULL	ENSG00000120318		0.617	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	23	0.00	0	G	NM_022481		141059669	141059669	-1	no_errors	ENST00000239440	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	0.998	C
ATP11B	23200	genome.wustl.edu	37	3	182554293	182554293	+	Intron	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr3:182554293G>A	ENST00000323116.5	+	6	812				ATP11B_ENST00000493826.1_Silent_p.*196*|ATP11B_ENST00000482794.1_Intron	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B						aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGCTCTTGGTGAACAAAGTGT	0.343																																						dbGAP											0													128.0	121.0	124.0					3																	182554293		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.552+35G>A	3.37:g.182554293G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FN1|Q9UKK7	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr	p.*196	ENST00000323116.5	37	c.587	CCDS33896.1	3																																																																																			ATP11B	-	NULL	ENSG00000058063		0.343	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	101	0.00	0	G	NM_014616		182554293	182554293	+1	no_errors	ENST00000493826	ensembl	human	putative	69_37n	silent	68	40.35	46	SNP	0.000	A
ATP12A	479	genome.wustl.edu	37	13	25265155	25265155	+	Missense_Mutation	SNP	C	C	T	rs200347989		TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr13:25265155C>T	ENST00000381946.3	+	8	1002	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	ATP12A_ENST00000218548.6_Missense_Mutation_p.R285C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	279					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R279C(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CACGGGTGACCGCACCATCAT	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22535	0.0		0.0	False		,,,				2504	0.0				Pancreas(156;1582 1935 18898 22665 26498)	dbGAP											1	Substitution - Missense(1)	breast(1)											173.0	152.0	159.0					13																	25265155		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.835C>T	13.37:g.25265155C>T	ENSP00000371372:p.Arg279Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.R285C	ENST00000381946.3	37	c.853	CCDS31948.1	13	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.5	4.160478	0.78226	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.88509	-2.39;-2.39	5.02	5.02	0.67125	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.074956	0.56097	D	0.000025	D	0.95211	0.8447	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.62649	0.905;0.734	D	0.96120	0.9084	10	0.87932	D	0	.	15.8788	0.79185	0.0:1.0:0.0:0.0	.	285;279	P54707-2;P54707	.;AT12A_HUMAN	C	285;279	ENSP00000218548:R285C;ENSP00000371372:R279C	ENSP00000218548:R285C	R	+	1	0	ATP12A	24163155	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	4.621000	0.61233	2.600000	0.87896	0.462000	0.41574	CGC	ATP12A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000075673		0.542	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	60	0.00	0	C	NM_001676		25265155	25265155	+1	no_errors	ENST00000218548	ensembl	human	known	69_37n	missense	18	61.70	29	SNP	1.000	T
ATP4B	496	genome.wustl.edu	37	13	114303807	114303807	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr13:114303807A>C	ENST00000335288.4	-	7	799	c.758T>G	c.(757-759)aTc>aGc	p.I253S		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	253	immunoglobulin-like.				cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)	p.I253S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			GTTCCTGGGGATGTTGAGGAG	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											63.0	47.0	52.0					13																	114303807		2202	4296	6498	-	-	-	SO:0001583	missense	0				CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.758T>G	13.37:g.114303807A>C	ENSP00000334216:p.Ile253Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0N8	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.I253S	ENST00000335288.4	37	c.758	CCDS9539.1	13	.	.	.	.	.	.	.	.	.	.	A	8.361	0.833144	0.16820	.	.	ENSG00000186009	ENST00000335288	T	0.29142	1.58	4.73	3.52	0.40303	.	0.729661	0.11855	N	0.522940	T	0.24198	0.0586	L	0.38838	1.175	0.20821	N	0.999847	B	0.32010	0.351	B	0.37780	0.258	T	0.28364	-1.0046	10	0.09084	T	0.74	-4.9204	7.9507	0.30012	0.837:0.0:0.163:0.0	.	253	P51164	ATP4B_HUMAN	S	253	ENSP00000334216:I253S	ENSP00000334216:I253S	I	-	2	0	ATP4B	113351808	0.986000	0.35501	0.630000	0.29268	0.005000	0.04900	4.952000	0.63618	0.631000	0.30412	0.397000	0.26171	ATC	ATP4B	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	ENSG00000186009		0.542	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4B	HGNC	protein_coding	OTTHUMT00000276703.2	56	0.00	0	A	NM_000705		114303807	114303807	-1	no_errors	ENST00000335288	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	0.560	C
ATXN7L2	127002	genome.wustl.edu	37	1	110031008	110031008	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr1:110031008A>G	ENST00000369870.3	+	6	719	c.704A>G	c.(703-705)aAg>aGg	p.K235R		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	235	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.							p.K235R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCACAGGGAAGGAGTGCGAC	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	83.0	91.0					1																	110031008		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.704A>G	1.37:g.110031008A>G	ENSP00000358886:p.Lys235Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SCA7_dom	p.K235R	ENST00000369870.3	37	c.704	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762708	0.31228	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.21543	2.0	5.67	5.67	0.87782	SCA7 domain (2);	0.000000	0.64402	D	0.000016	T	0.03959	0.0111	N	0.01751	-0.74	0.80722	D	1	P	0.42296	0.775	P	0.46758	0.526	T	0.18429	-1.0337	10	0.02654	T	1	-13.3518	13.4275	0.61035	1.0:0.0:0.0:0.0	.	235	Q5T6C5	AT7L2_HUMAN	R	235	ENSP00000358886:K235R	ENSP00000358886:K235R	K	+	2	0	ATXN7L2	109832531	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.796000	0.62496	2.169000	0.68431	0.459000	0.35465	AAG	ATXN7L2	-	pfam_SCA7_dom	ENSG00000162650		0.527	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	51	0.00	0	A	NM_153340		110031008	110031008	+1	no_errors	ENST00000369870	ensembl	human	known	69_37n	missense	28	53.33	32	SNP	1.000	G
ARPIN	348110	genome.wustl.edu	37	15	90447196	90447196	+	Silent	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr15:90447196G>A	ENST00000357484.5	-	4	441	c.321C>T	c.(319-321)gaC>gaT	p.D107D	C15orf38-AP3S2_ENST00000398333.3_Silent_p.D107D|C15orf38_ENST00000460685.1_Silent_p.D11D|C15orf38-AP3S2_ENST00000560224.1_5'Flank	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		107					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)		p.D107D(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GCCTGTCAGTGTCCCCCTTGG	0.637																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											42.0	46.0	45.0					15																	90447196		2112	4224	6336	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000357484.5:c.321C>T	15.37:g.90447196G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E2QRD5	Silent	SNP	pfam_UPF0552	p.D107	ENST00000357484.5	37	c.321	CCDS42080.1	15																																																																																			C15orf38	-	pfam_UPF0552	ENSG00000242498		0.637	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf38	HGNC	protein_coding	OTTHUMT00000335629.1	10	0.00	0	G			90447196	90447196	-1	no_errors	ENST00000357484	ensembl	human	known	69_37n	silent	6	66.67	12	SNP	0.786	A
CACNA2D2	9254	genome.wustl.edu	37	3	50402899	50402899	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr3:50402899C>T	ENST00000479441.1	-	36	3006	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E996K|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E996K|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E927K|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.E1003K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E997K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E1004K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E996K|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1003					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E996K(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGGCTCCCCTCGGCCTCCGCG	0.672																																						dbGAP											1	Substitution - Missense(1)	breast(1)											44.0	40.0	41.0					3																	50402899		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.3007G>A	3.37:g.50402899C>T	ENSP00000418081:p.Glu1003Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E1003K	ENST00000479441.1	37	c.3007	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752969	0.89753	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.2	5.2	0.72013	.	0.067517	0.56097	D	0.000022	T	0.82181	0.4981	M	0.66939	2.045	0.53688	D	0.999978	D;D	0.63046	0.992;0.991	P;P	0.58077	0.705;0.832	T	0.80968	-0.1145	10	0.33940	T	0.23	-14.3578	17.3474	0.87313	0.0:1.0:0.0:0.0	.	1003;996	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	K	1004;997;996;927;1003;996;996;1003	ENSP00000407393:E1004K;ENSP00000404631:E997K;ENSP00000266039:E996K;ENSP00000354228:E927K;ENSP00000390526:E1003K;ENSP00000378519:E996K;ENSP00000390329:E996K;ENSP00000418081:E1003K	ENSP00000266039:E996K	E	-	1	0	CACNA2D2	50377903	0.913000	0.31002	0.875000	0.34327	0.701000	0.40568	3.102000	0.50291	2.422000	0.82143	0.655000	0.94253	GAG	CACNA2D2	-	NULL	ENSG00000007402		0.672	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	14	0.00	0	C	NM_006030		50402899	50402899	-1	no_errors	ENST00000435965	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	1.000	T
CAD	790	genome.wustl.edu	37	2	27454419	27454419	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr2:27454419G>C	ENST00000403525.1	+	15	2326	c.2182G>C	c.(2182-2184)Gat>Cat	p.D728H	CAD_ENST00000264705.4_Missense_Mutation_p.D791H|CAD_ENST00000464159.1_3'UTR			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.D791H(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGGGCTTTGATCACACAGT	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											144.0	119.0	128.0					2																	27454419		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2182G>C	2.37:g.27454419G>C	ENSP00000384510:p.Asp728His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.D791H	ENST00000403525.1	37	c.2371		2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672304	0.88348	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.92397	-3.03;-3.03	5.37	5.37	0.77165	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.000000	0.85682	D	0.000000	D	0.95319	0.8481	M	0.71581	2.175	0.80722	D	1	P;D	0.76494	0.713;0.999	B;D	0.64042	0.18;0.921	D	0.95321	0.8420	10	0.62326	D	0.03	-4.1422	18.0198	0.89252	0.0:0.0:1.0:0.0	.	728;791	F8VPD4;P27708	.;PYR1_HUMAN	H	791;728	ENSP00000264705:D791H;ENSP00000384510:D728H	ENSP00000264705:D791H	D	+	1	0	CAD	27307923	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	9.094000	0.94168	2.686000	0.91538	0.655000	0.94253	GAT	CAD	-	superfamily_CarbamoylP_synth_lsu_oligo,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.537	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	52	0.00	0	G			27454419	27454419	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	missense	57	37.36	34	SNP	1.000	C
CCDC80	151887	genome.wustl.edu	37	3	112358633	112358633	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr3:112358633C>A	ENST00000206423.3	-	2	1073	c.120G>T	c.(118-120)ttG>ttT	p.L40F	CCDC80_ENST00000439685.2_Missense_Mutation_p.L40F|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	40					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.L40F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCGGAGAAACCAAAGGCACTT	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	68.0	71.0					3																	112358633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.120G>T	3.37:g.112358633C>A	ENSP00000206423:p.Leu40Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.L40F	ENST00000206423.3	37	c.120	CCDS2968.1	3	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250202	0.39797	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.46063	0.88;0.88	5.03	3.0	0.34707	.	0.613109	0.14859	N	0.294202	T	0.26593	0.0650	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33171	0.4;0.278;0.278	B;B;B	0.30646	0.118;0.088;0.055	T	0.16867	-1.0388	10	0.66056	D	0.02	-5.4619	7.4658	0.27320	0.0:0.7227:0.1757:0.1015	.	51;40;40	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	F	40	ENSP00000206423:L40F;ENSP00000411814:L40F	ENSP00000206423:L40F	L	-	3	2	CCDC80	113841323	0.000000	0.05858	0.014000	0.15608	0.769000	0.43574	0.311000	0.19380	1.279000	0.44446	0.650000	0.86243	TTG	CCDC80	-	NULL	ENSG00000091986		0.567	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	17	0.00	0	C	NM_199511		112358633	112358633	-1	no_errors	ENST00000206423	ensembl	human	known	69_37n	missense	16	37.04	10	SNP	0.002	A
COPG1	22820	genome.wustl.edu	37	3	128973853	128973853	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr3:128973853G>C	ENST00000314797.6	+	7	529	c.425G>C	c.(424-426)cGc>cCc	p.R142P		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	142					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.R142P(1)									GCTATTGAGCGCTACATGAAA	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											120.0	94.0	103.0					3																	128973853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.425G>C	3.37:g.128973853G>C	ENSP00000325002:p.Arg142Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.R142P	ENST00000314797.6	37	c.425	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635566	0.87760	.	.	ENSG00000181789	ENST00000314797	T	0.09817	2.94	4.15	4.15	0.48705	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.094101	0.47852	D	0.000205	T	0.42381	0.1200	M	0.93150	3.385	0.58432	D	0.999999	D	0.65815	0.995	D	0.79108	0.992	T	0.57359	-0.7825	10	0.87932	D	0	-23.8379	13.9738	0.64257	0.0:0.0:1.0:0.0	.	142	Q9Y678	COPG_HUMAN	P	142	ENSP00000325002:R142P	ENSP00000325002:R142P	R	+	2	0	COPG	130456543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.252000	0.95491	2.151000	0.67156	0.591000	0.81541	CGC	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu	ENSG00000181789		0.582	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	53	0.00	0	G	NM_016128		128973853	128973853	+1	no_errors	ENST00000314797	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	1.000	C
CORO7	79585	genome.wustl.edu	37	16	4408084	4408084	+	Silent	SNP	G	G	A	rs555588403		TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr16:4408084G>A	ENST00000251166.4	-	25	2623	c.2478C>T	c.(2476-2478)gaC>gaT	p.D826D	PAM16_ENST00000576217.1_5'Flank|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Silent_p.D826D|CORO7_ENST00000539968.1_Silent_p.D606D|CORO7_ENST00000574025.1_Silent_p.D741D|CORO7_ENST00000537233.2_Silent_p.D808D	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	826					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.D826D(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CTGGGAACACGTCATCCTGGA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		19663	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	breast(1)											58.0	62.0	60.0					16																	4408084		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2478C>T	16.37:g.4408084G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D826	ENST00000251166.4	37	c.2478	CCDS10513.1	16																																																																																			CORO7	-	pfam_DUF1900	ENSG00000103426		0.622	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7	HGNC	protein_coding	OTTHUMT00000251628.2	10	0.00	0	G	NM_024535		4408084	4408084	-1	no_errors	ENST00000572467	ensembl	human	known	69_37n	silent	11	31.25	5	SNP	0.980	A
CYB5R1	51706	genome.wustl.edu	37	1	202931677	202931677	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr1:202931677T>A	ENST00000367249.4	-	9	970	c.896A>T	c.(895-897)cAa>cTa	p.Q299L	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	299					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.Q299L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TCGCATCTTTTGTGAGTAGCC	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											167.0	152.0	157.0					1																	202931677		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.896A>T	1.37:g.202931677T>A	ENSP00000356218:p.Gln299Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	p.Q299L	ENST00000367249.4	37	c.896	CCDS1431.1	1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.680298	0.47886	.	.	ENSG00000159348	ENST00000367249	D	0.94417	-3.42	6.08	3.69	0.42338	.	0.211690	0.39909	N	0.001230	D	0.90017	0.6883	L	0.35341	1.055	0.43226	D	0.995115	B	0.09022	0.002	B	0.14023	0.01	D	0.83888	0.0283	10	0.49607	T	0.09	-2.9973	11.5215	0.50553	0.0:0.0:0.2854:0.7146	.	299	Q9UHQ9	NB5R1_HUMAN	L	299	ENSP00000356218:Q299L	ENSP00000356218:Q299L	Q	-	2	0	CYB5R1	201198300	0.998000	0.40836	0.926000	0.36857	0.989000	0.77384	2.552000	0.45828	0.499000	0.27970	0.482000	0.46254	CAA	CYB5R1	-	NULL	ENSG00000159348		0.547	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	22	0.00	0	T	NM_016243		202931677	202931677	-1	no_errors	ENST00000367249	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	0.998	A
CYP3A4	1576	genome.wustl.edu	37	7	99366036	99366036	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr7:99366036A>C	ENST00000336411.2	-	7	794	c.611T>G	c.(610-612)gTg>gGg	p.V204G	RP11-757A13.1_ENST00000608397.1_RNA|CYP3A4_ENST00000354593.2_Missense_Mutation_p.V54G	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	204					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.V204G(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GGTGTTTTCCACAAAGGGGTC	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)											133.0	126.0	129.0					7																	99366036		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.611T>G	7.37:g.99366036A>C	ENSP00000337915:p.Val204Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P05184|Q16757|Q9UK50	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.V204G	ENST00000336411.2	37	c.611	CCDS5674.1	7	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009723	0.54361	.	.	ENSG00000160868	ENST00000354593;ENST00000336411;ENST00000544160	T;T	0.70631	-0.5;-0.5	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	D;D;D;D;D	0.77557	0.986;0.99;0.981;0.981;0.981	D	0.85651	0.1282	10	0.87932	D	0	.	11.4075	0.49906	1.0:0.0:0.0:0.0	.	54;131;204;204;204	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	G	54;204;60	ENSP00000346607:V54G;ENSP00000337915:V204G	ENSP00000337915:V204G	V	-	2	0	CYP3A4	99203972	1.000000	0.71417	0.984000	0.44739	0.643000	0.38383	5.680000	0.68168	1.578000	0.49821	0.402000	0.26972	GTG	CYP3A4	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160868		0.398	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	HGNC	protein_coding	OTTHUMT00000345059.1	270	0.00	0	A			99366036	99366036	-1	no_errors	ENST00000336411	ensembl	human	known	69_37n	missense	188	32.86	92	SNP	0.989	C
DMRTC1	63947	genome.wustl.edu	37	X	72092354	72092354	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chrX:72092354G>C	ENST00000373529.5	-	6	790	c.511C>G	c.(511-513)Cgc>Ggc	p.R171G	DMRTC1_ENST00000373530.1_Missense_Mutation_p.R106G|DMRTC1_ENST00000290273.5_Missense_Mutation_p.R106G	NM_033053.2	NP_149042.2	Q5HYR2	DMRTC_HUMAN	DMRT-like family C1	171					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R171G(1)		breast(1)|large_intestine(1)	2	Renal(35;0.156)					GGCCTGGGGCGGAGAGAGGGG	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											10.0	15.0	14.0					X																	72092354		2050	4207	6257	-	-	-	SO:0001583	missense	0			AJ291670	CCDS35333.2	Xq13.2	2010-05-12			ENSG00000159123	ENSG00000269502			13910	protein-coding gene	gene with protein product		300878					Standard	NM_033053		Approved		uc004ebb.3	Q5HYR2	OTTHUMG00000021820	ENST00000373529.5:c.511C>G	X.37:g.72092354G>C	ENSP00000362629:p.Arg171Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYR0|Q5U5K2|Q8N6L3|Q96SD3	Missense_Mutation	SNP	NULL	p.R171G	ENST00000373529.5	37	c.511	CCDS35333.2	X	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682312	0.47991	.	.	ENSG00000159123	ENST00000290273;ENST00000373529;ENST00000373530	.	.	.	2.98	-3.51	0.04696	.	2.493230	0.02548	U	0.095379	T	0.24392	0.0591	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08126	-1.0737	6	0.49607	T	0.09	-0.9616	0.4583	0.00512	0.2586:0.3092:0.2153:0.2169	.	.	.	.	G	106;171;106	.	ENSP00000290273:R106G	R	-	1	0	DMRTC1	72009079	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	-1.092000	0.03366	-1.115000	0.02973	0.523000	0.50628	CGC	DMRTC1	-	NULL	ENSG00000159123		0.587	DMRTC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTC1	HGNC	protein_coding	OTTHUMT00000057216.3	32	0.00	0	G	NM_033053		72092354	72092354	-1	no_errors	ENST00000373529	ensembl	human	known	69_37n	missense	43	14.00	7	SNP	0.000	C
DPP4	1803	genome.wustl.edu	37	2	162849872	162849872	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr2:162849872C>T	ENST00000360534.3	-	26	2782	c.2222G>A	c.(2221-2223)gGa>gAa	p.G741E	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	741					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G741E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GCTAGCTATTCCATGGTCTTC	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											282.0	259.0	267.0					2																	162849872		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2222G>A	2.37:g.162849872C>T	ENSP00000353731:p.Gly741Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.G741E	ENST00000360534.3	37	c.2222	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501154	0.64298	.	.	ENSG00000197635	ENST00000360534	T	0.36699	1.24	6.08	5.2	0.72013	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.098369	0.64402	D	0.000001	T	0.59851	0.2224	M	0.73372	2.23	0.42549	D	0.993109	D	0.71674	0.998	D	0.69307	0.963	T	0.64964	-0.6283	10	0.62326	D	0.03	-30.2963	17.0917	0.86624	0.0:0.7622:0.2378:0.0	.	741	P27487	DPP4_HUMAN	E	741	ENSP00000353731:G741E	ENSP00000353731:G741E	G	-	2	0	DPP4	162558118	0.008000	0.16893	0.927000	0.36925	0.988000	0.76386	1.977000	0.40589	1.563000	0.49615	0.655000	0.94253	GGA	DPP4	-	pfam_Peptidase_S9	ENSG00000197635		0.348	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	380	0.00	0	C			162849872	162849872	-1	no_errors	ENST00000360534	ensembl	human	known	69_37n	missense	105	55.70	132	SNP	0.861	T
DPPA3P2	400206	genome.wustl.edu	37	14	36841315	36841315	+	RNA	SNP	T	T	A	rs200173949		TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr14:36841315T>A	ENST00000557188.1	+	0	946									developmental pluripotency associated 3 pseudogene 2																		CTGTTTGATTTGACCCAAAGA	0.338																																						dbGAP											0																																										-	-	-			0					14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36841315T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000557188.1	37	NULL		14																																																																																			DPPA3P2	-	-	ENSG00000188831		0.338	DPPA3P2-002	KNOWN	basic	processed_transcript	DPPA3P2	HGNC	pseudogene	OTTHUMT00000410122.1	9	0.00	0	T			36841315	36841315	+1	no_errors	ENST00000557188	ensembl	human	known	69_37n	rna	4	55.56	5	SNP	0.291	A
EPHB3	2049	genome.wustl.edu	37	3	184297496	184297496	+	Missense_Mutation	SNP	G	G	C	rs534204009		TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr3:184297496G>C	ENST00000330394.2	+	11	2398	c.1946G>C	c.(1945-1947)cGt>cCt	p.R649P	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.R649P(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GAAGTGTGCCGTGGTCGACTG	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											59.0	59.0	59.0					3																	184297496		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1946G>C	3.37:g.184297496G>C	ENSP00000332118:p.Arg649Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z740	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R649P	ENST00000330394.2	37	c.1946	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404583	0.83230	.	.	ENSG00000182580	ENST00000330394	T	0.63913	-0.07	4.6	4.6	0.57074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.119212	0.56097	D	0.000024	T	0.80014	0.4546	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82362	-0.0495	10	0.52906	T	0.07	.	16.7938	0.85596	0.0:0.0:1.0:0.0	.	649	P54753	EPHB3_HUMAN	P	649	ENSP00000332118:R649P	ENSP00000332118:R649P	R	+	2	0	EPHB3	185780190	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.992000	0.88273	2.271000	0.75665	0.551000	0.68910	CGT	EPHB3	-	pirsf_Tyr_kinase_ephrin_rcpt,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	ENSG00000182580		0.617	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	33	0.00	0	G	NM_004443		184297496	184297496	+1	no_errors	ENST00000330394	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	1.000	C
FCRL5	83416	genome.wustl.edu	37	1	157516898	157516898	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr1:157516898G>A	ENST00000361835.3	-	3	299	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	FCRL5_ENST00000368189.3_Missense_Mutation_p.R48C|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.R48C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R48C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R48C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	48	Ig-like C2-type 1.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.R48C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGTAGAAGCGAAATCCCTTG	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											151.0	141.0	144.0					1																	157516898		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.142C>T	1.37:g.157516898G>A	ENSP00000354691:p.Arg48Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R48C	ENST00000361835.3	37	c.142	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670146	0.29693	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189;ENST00000368188	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	5.01	-3.4	0.04853	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	D;B;B;B	0.55800	0.973;0.285;0.299;0.285	P;B;B;B	0.52710	0.707;0.109;0.014;0.067	T	0.29971	-0.9994	9	0.38643	T	0.18	.	8.7195	0.34432	0.0:0.3293:0.3719:0.2988	.	48;48;48;48	Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;FCRL5_HUMAN	C	48	ENSP00000354691:R48C;ENSP00000349434:R48C;ENSP00000357173:R48C;ENSP00000357172:R48C;ENSP00000357171:R48C	ENSP00000349434:R48C	R	-	1	0	FCRL5	155783522	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.136000	0.10405	-0.483000	0.06772	-0.810000	0.03169	CGC	FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143297		0.478	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	114	0.00	0	G	NM_031281		157516898	157516898	-1	no_errors	ENST00000356953	ensembl	human	known	69_37n	missense	78	40.91	54	SNP	0.000	A
FOXB2	442425	genome.wustl.edu	37	9	79634614	79634614	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr9:79634614C>T	ENST00000376708.1	+	1	44	c.44C>T	c.(43-45)cCc>cTc	p.P15L		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	15					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P15L(3)		breast(1)|lung(8)|ovary(1)	10						CAAAAACCGCCCTACTCTTAC	0.637																																						dbGAP											3	Substitution - Missense(3)	breast(3)											47.0	42.0	44.0					9																	79634614		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.44C>T	9.37:g.79634614C>T	ENSP00000365898:p.Pro15Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1	p.P15L	ENST00000376708.1	37	c.44	CCDS35045.1	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960475	0.74016	.	.	ENSG00000204612	ENST00000376708	D	0.98381	-4.9	4.41	4.41	0.53225	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99072	1.0834	10	0.87932	D	0	.	16.976	0.86313	0.0:1.0:0.0:0.0	.	15	Q5VYV0	FOXB2_HUMAN	L	15	ENSP00000365898:P15L	ENSP00000365898:P15L	P	+	2	0	FOXB2	78824434	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.598000	0.82745	2.177000	0.69029	0.561000	0.74099	CCC	FOXB2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000204612		0.637	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXB2	HGNC	protein_coding	OTTHUMT00000052745.1	11	0.00	0	C	NM_001013735		79634614	79634614	+1	no_errors	ENST00000376708	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	T
GDPD2	54857	genome.wustl.edu	37	X	69650939	69650939	+	Intron	SNP	C	C	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chrX:69650939C>G	ENST00000374382.3	+	12	1558				GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000472623.1_Intron|GDPD2_ENST00000536730.1_Intron|GDPD2_ENST00000453994.2_Missense_Mutation_p.P475A	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2						glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.P475A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					cccccCTCAGCCTCCCGGTTA	0.517																																						dbGAP											1	Substitution - Missense(1)	breast(1)											128.0	101.0	109.0					X																	69650939		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1307+1026C>G	X.37:g.69650939C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.P475A	ENST00000374382.3	37	c.1423	CCDS14402.1	X	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.398028	0.00198	.	.	ENSG00000130055	ENST00000453994	T	0.09817	2.94	0.554	0.554	0.17241	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	P	0.43392	0.805	P	0.47134	0.539	T	0.24012	-1.0172	6	.	.	.	.	.	.	.	.	475	B4DVC9	.	A	475	ENSP00000414019:P475A	.	P	+	1	0	GDPD2	69567664	0.005000	0.15991	0.013000	0.15412	0.014000	0.08584	-0.180000	0.09754	0.491000	0.27793	0.292000	0.19580	CCT	GDPD2	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000130055		0.517	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	HGNC	protein_coding	OTTHUMT00000057070.1	70	0.00	0	C	NM_017711		69650939	69650939	+1	no_errors	ENST00000453994	ensembl	human	known	69_37n	missense	63	35.05	34	SNP	0.013	G
GPATCH8	23131	genome.wustl.edu	37	17	42476445	42476445	+	Silent	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr17:42476445G>A	ENST00000591680.1	-	8	3030	c.3000C>T	c.(2998-3000)tcC>tcT	p.S1000S	GPATCH8_ENST00000434000.1_Silent_p.S922S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1000	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1000S(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTGATCTCTGGGAAGGGCTCC	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											34.0	34.0	34.0					17																	42476445		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3000C>T	17.37:g.42476445G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGP9|O60300|Q8TB99	Silent	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.S1000	ENST00000591680.1	37	c.3000	CCDS32666.1	17																																																																																			GPATCH8	-	NULL	ENSG00000186566		0.617	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	35	0.00	0	G	NM_001002909		42476445	42476445	-1	no_errors	ENST00000591680	ensembl	human	known	69_37n	silent	13	68.29	28	SNP	0.996	A
GRIN2A	2903	genome.wustl.edu	37	16	9934882	9934883	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr16:9934882_9934883insA	ENST00000396573.2	-	7	1716_1717	c.1407_1408insT	c.(1405-1410)agaactfs	p.T470fs	GRIN2A_ENST00000330684.3_Frame_Shift_Ins_p.T470fs|GRIN2A_ENST00000396575.2_Frame_Shift_Ins_p.T470fs|GRIN2A_ENST00000562109.1_Frame_Shift_Ins_p.T470fs|GRIN2A_ENST00000535259.1_Frame_Shift_Ins_p.T313fs|GRIN2A_ENST00000404927.2_Frame_Shift_Ins_p.T470fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	470					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T470fs*21(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACTTCACAGTTCTGGAAAGCT	0.411																																						dbGAP											1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1407_1408insT	16.37:g.9934882_9934883insA	ENSP00000379818:p.Thr470fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00669|Q17RZ6	Frame_Shift_Ins	INS	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T469fs	ENST00000396573.2	37	c.1408_1407	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000183454		0.411	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	120	0.00	0	-			9934882	9934883	-1	no_errors	ENST00000330684	ensembl	human	known	69_37n	frame_shift_ins	97	19.83	24	INS	0.838:0.008	A
HERC2P2	400322	genome.wustl.edu	37	15	23318586	23318586	+	RNA	SNP	C	C	A	rs199761523	byFrequency	TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr15:23318586C>A	ENST00000560464.1	-	0	2497									hect domain and RLD 2 pseudogene 2																		ATCATGGCAGCCAGTTCTGGC	0.493													c|||	72	0.014377	0.0023	0.0101	5008	,	,		20509	0.0337		0.0179	False		,,,				2504	0.0102					dbGAP											0																																										-	-	-			0			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23318586C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			HERC2P2	-	-	ENSG00000140181		0.493	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	40	0.00	0	C			23318586	23318586	-1	no_errors	ENST00000560464	ensembl	human	known	69_37n	rna	20	13.04	3	SNP	1.000	A
HK3	3101	genome.wustl.edu	37	5	176308510	176308510	+	Missense_Mutation	SNP	C	C	T	rs543207235		TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr5:176308510C>T	ENST00000292432.5	-	18	2511	c.2420G>A	c.(2419-2421)cGa>cAa	p.R807Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	807	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.R807Q(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGATGGCTCGGACCTGCCG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16477	0.0		0.0	False		,,,				2504	0.001					dbGAP											2	Substitution - Missense(2)	breast(2)											20.0	23.0	22.0					5																	176308510		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2420G>A	5.37:g.176308510C>T	ENSP00000292432:p.Arg807Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1E7	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R807Q	ENST00000292432.5	37	c.2420	CCDS4407.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226785	0.79576	.	.	ENSG00000160883	ENST00000292432	D	0.96427	-4.01	5.35	5.35	0.76521	Hexokinase, C-terminal (1);	0.000000	0.42964	D	0.000634	D	0.97804	0.9279	M	0.72479	2.2	0.47949	D	0.999557	D	0.89917	1.0	D	0.76071	0.987	D	0.98006	1.0363	10	0.54805	T	0.06	.	18.0067	0.89211	0.0:1.0:0.0:0.0	.	807	P52790	HXK3_HUMAN	Q	807	ENSP00000292432:R807Q	ENSP00000292432:R807Q	R	-	2	0	HK3	176241116	0.990000	0.36364	1.000000	0.80357	0.967000	0.64934	2.986000	0.49370	2.667000	0.90743	0.561000	0.74099	CGA	HK3	-	pfam_Hexokinase_C	ENSG00000160883		0.632	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	HGNC	protein_coding	OTTHUMT00000253428.1	14	0.00	0	C			176308510	176308510	-1	no_errors	ENST00000292432	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	T
ITIH2	3698	genome.wustl.edu	37	10	7769038	7769038	+	Silent	SNP	T	T	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr10:7769038T>G	ENST00000358415.4	+	10	1276	c.1110T>G	c.(1108-1110)gtT>gtG	p.V370V	ITIH2_ENST00000379587.4_Silent_p.V359V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	370	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V370V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAACACAGGTTGCAGATGCCA	0.423																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											84.0	86.0	85.0					10																	7769038		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1110T>G	10.37:g.7769038T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14659|Q15484|Q5T986	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.V370	ENST00000358415.4	37	c.1110	CCDS31141.1	10																																																																																			ITIH2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151655		0.423	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	127	0.00	0	T	NM_002216		7769038	7769038	+1	no_errors	ENST00000358415	ensembl	human	known	69_37n	silent	143	25.13	48	SNP	0.000	G
MASP1	5648	genome.wustl.edu	37	3	186953802	186953802	+	Intron	SNP	A	A	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr3:186953802A>T	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000296280.6_Nonsense_Mutation_p.Y619*|MASP1_ENST00000392472.2_Nonsense_Mutation_p.Y506*	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.Y619*(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTAACTTGACATACTGCAGGA	0.557																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											109.0	93.0	99.0					3																	186953802		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5466T>A	3.37:g.186953802A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.Y619*	ENST00000337774.5	37	c.1857	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	A	39	7.632653	0.98399	.	.	ENSG00000127241	ENST00000296280;ENST00000392472	.	.	.	6.17	-3.9	0.04181	.	0.356561	0.33382	N	0.004966	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4796	0.67573	0.4631:0.0:0.5369:0.0	.	.	.	.	X	619;506	.	ENSP00000296280:Y619X	Y	-	3	2	MASP1	188436496	0.000000	0.05858	0.980000	0.43619	0.830000	0.47004	-1.521000	0.02239	-0.535000	0.06307	-0.256000	0.11100	TAT	MASP1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000127241		0.557	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	22	0.00	0	A	NM_001879		186953802	186953802	-1	no_errors	ENST00000296280	ensembl	human	known	69_37n	nonsense	23	25.81	8	SNP	0.816	T
MDN1	23195	genome.wustl.edu	37	6	90402230	90402230	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr6:90402230G>A	ENST00000369393.3	-	63	10634	c.10519C>T	c.(10519-10521)Cgc>Tgc	p.R3507C	MDN1_ENST00000428876.1_Missense_Mutation_p.R3507C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3507					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R3507C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACGTGGGAGCGCAGGTAAAGG	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											64.0	61.0	62.0					6																	90402230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10519C>T	6.37:g.90402230G>A	ENSP00000358400:p.Arg3507Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R3507C	ENST00000369393.3	37	c.10519	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815190	0.50527	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03607	3.87;3.87	5.64	5.64	0.86602	.	0.235559	0.40064	N	0.001190	T	0.06325	0.0163	M	0.76574	2.34	0.53688	D	0.999978	D	0.67145	0.996	P	0.46885	0.53	T	0.22906	-1.0203	10	0.49607	T	0.09	.	19.7137	0.96107	0.0:0.0:1.0:0.0	.	3507	Q9NU22	MDN1_HUMAN	C	3507	ENSP00000358400:R3507C;ENSP00000413970:R3507C	ENSP00000358400:R3507C	R	-	1	0	MDN1	90458951	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	9.476000	0.97823	2.655000	0.90218	0.462000	0.41574	CGC	MDN1	-	pirsf_Midasin	ENSG00000112159		0.592	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	10	0.00	0	G			90402230	90402230	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	1.000	A
CALCR	799	genome.wustl.edu	37	7	93112145	93112145	+	Intron	SNP	T	T	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr7:93112145T>G	ENST00000394441.1	-	3	367				CALCR_ENST00000421592.1_Intron|CALCR_ENST00000360249.4_Intron|CALCR_ENST00000426151.1_Intron|MIR489_ENST00000384923.1_RNA|MIR653_ENST00000385279.1_RNA|CALCR_ENST00000359558.2_Intron	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CAGTAGAGATTGTTTCAACAC	0.363																																						dbGAP											0													99.0	96.0	97.0					7																	93112145		1567	3582	5149	-	-	-	SO:0001627	intron_variant	0			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.52-3326A>C	7.37:g.93112145T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	RNA	SNP	-	NULL	ENST00000394441.1	37	NULL	CCDS5631.1	7																																																																																			MIR653	-	-	ENSG00000208014		0.363	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	MIR653	HGNC	protein_coding	OTTHUMT00000254661.2	118	0.00	0	T	NM_001742		93112145	93112145	-1	no_errors	ENST00000385279	ensembl	human	known	69_37n	rna	75	44.53	61	SNP	0.994	G
MYLK	4638	genome.wustl.edu	37	3	123337588	123337588	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr3:123337588C>T	ENST00000475616.1	-	30	5397	c.5398G>A	c.(5398-5400)Gtt>Att	p.V1800I	MYLK_ENST00000354792.5_Missense_Mutation_p.V600I|MYLK_ENST00000578202.1_Missense_Mutation_p.V39I|MYLK_ENST00000346322.5_Missense_Mutation_p.V1731I|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Missense_Mutation_p.V40I|MYLK_ENST00000418370.2_Missense_Mutation_p.V40I|MYLK_ENST00000360772.3_Missense_Mutation_p.V1749I|MYLK_ENST00000359169.1_Missense_Mutation_p.V1749I|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.V1800I			Q15746	MYLK_HUMAN	myosin light chain kinase	1800					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.V1800I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCTCAGCAACAGCCTCAAGG	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											110.0	110.0	110.0					3																	123337588		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5398G>A	3.37:g.123337588C>T	ENSP00000418335:p.Val1800Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V1800I	ENST00000475616.1	37	c.5398	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985440	0.74589	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;0.16;-0.18;0.02;-0.2	5.37	5.37	0.77165	.	.	.	.	.	T	0.68668	0.3026	N	0.22421	0.69	0.46849	D	0.999229	P;D;P;D;P;P	0.67145	0.926;0.989;0.926;0.996;0.879;0.642	P;D;P;D;P;B	0.80764	0.771;0.914;0.719;0.994;0.596;0.053	T	0.70375	-0.4889	9	0.52906	T	0.07	.	17.4827	0.87677	0.0:1.0:0.0:0.0	.	1799;1680;1749;1731;1800;112	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	I	1749;1800;1749;40;1731;600;1800	ENSP00000354004:V1749I;ENSP00000353452:V1800I;ENSP00000352088:V1749I;ENSP00000428967:V40I;ENSP00000320622:V1731I;ENSP00000346846:V600I;ENSP00000418335:V1800I	ENSP00000320622:V1731I	V	-	1	0	MYLK	124820278	0.986000	0.35501	0.825000	0.32803	0.993000	0.82548	2.819000	0.48049	2.788000	0.95919	0.650000	0.86243	GTT	MYLK	-	NULL	ENSG00000065534		0.443	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	102	0.00	0	C	NM_053025		123337588	123337588	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	missense	63	44.25	50	SNP	0.933	T
MUC20	200958	genome.wustl.edu	37	3	195451697	195451697	+	Missense_Mutation	SNP	A	A	G	rs200209995	byFrequency	TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr3:195451697A>G	ENST00000447234.2	+	2	349	c.223A>G	c.(223-225)Att>Gtt	p.I75V	MUC20_ENST00000445522.2_Missense_Mutation_p.I40V|MUC20_ENST00000436408.1_Missense_Mutation_p.I75V|MUC20_ENST00000320736.6_Missense_Mutation_p.I75V	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	75				I -> V (in Ref. 5; AAH29267). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGCCGGCCCCATTCCAGAAGC	0.572																																						dbGAP											0													3.0	3.0	3.0					3																	195451697		1363	3036	4399	-	-	-	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.223A>G	3.37:g.195451697A>G	ENSP00000414350:p.Ile75Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.I75V	ENST00000447234.2	37	c.223		3	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386613	0.42308	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.16324	2.77;2.82;2.93;2.35	4.46	-2.57	0.06248	.	1.903170	0.02582	N	0.099019	T	0.13072	0.0317	L	0.34521	1.04	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.32534	-0.9903	10	0.44086	T	0.13	1.0852	5.031	0.14409	0.4181:0.1766:0.4053:0.0	.	75	E9PH32	.	V	75;75;75;40	ENSP00000414350:I75V;ENSP00000325431:I75V;ENSP00000396774:I75V;ENSP00000405629:I40V	ENSP00000325431:I75V	I	+	1	0	MUC20	196937368	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.457000	0.06745	-0.198000	0.10333	-0.476000	0.04901	ATT	MUC20	-	NULL	ENSG00000176945		0.572	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	11	0.00	0	A	NM_152673		195451697	195451697	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.000	G
NSMCE4A	54780	genome.wustl.edu	37	10	123727171	123727171	+	Splice_Site	SNP	G	G	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr10:123727171G>C	ENST00000369023.3	-	4	703	c.652C>G	c.(652-654)Ctg>Gtg	p.L218V	NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000538652.1_Splice_Site_p.L59V|NSMCE4A_ENST00000369017.5_Splice_Site_p.L218V	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	218					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)		p.L218V(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TAATCTTACAGAAAGTGGAAT	0.338																																						dbGAP											1	Substitution - Missense(1)	breast(1)											152.0	153.0	153.0					10																	123727171		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"""chromosome 10 open reading frame 86"""	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.653+1C>G	10.37:g.123727171G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Missense_Mutation	SNP	pfam_Nse4	p.L218V	ENST00000369023.3	37	c.652	CCDS7624.1	10	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674234	0.47781	.	.	ENSG00000107672	ENST00000369023;ENST00000538652;ENST00000369017	T;T	0.56275	0.47;1.65	5.49	3.52	0.40303	.	0.045349	0.85682	D	0.000000	T	0.47507	0.1449	L	0.41710	1.295	0.35011	D	0.756896	B;P;P	0.49090	0.195;0.919;0.587	B;P;B	0.50082	0.164;0.63;0.381	T	0.57843	-0.7741	10	0.54805	T	0.06	-6.5127	6.2137	0.20644	0.0901:0.0:0.5738:0.3361	.	59;218;218	B4DWS2;Q9NXX6-2;Q9NXX6	.;.;NSE4A_HUMAN	V	218;59;218	ENSP00000358019:L218V;ENSP00000358013:L218V	ENSP00000358013:L218V	L	-	1	2	NSMCE4A	123717161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.895000	0.56258	2.733000	0.93635	0.655000	0.94253	CTG	NSMCE4A	-	pfam_Nse4	ENSG00000107672		0.338	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE4A	HGNC	protein_coding	OTTHUMT00000050749.1	425	0.00	0	G	NM_017615	Missense_Mutation	123727171	123727171	-1	no_errors	ENST00000369023	ensembl	human	known	69_37n	missense	249	37.59	150	SNP	1.000	C
OR2T5	401993	genome.wustl.edu	37	1	248652151	248652151	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr1:248652151G>A	ENST00000366473.2	+	1	267	c.262G>A	c.(262-264)Gac>Aac	p.D88N		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D88N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGCTCCTGGACCAGGTCAT	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											8.0	12.0	11.0					1																	248652151		1988	4171	6159	-	-	-	SO:0001583	missense	0			BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"""GPCR / Class A : Olfactory receptors"""	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.262G>A	1.37:g.248652151G>A	ENSP00000355429:p.Asp88Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D88N	ENST00000366473.2	37	c.262	CCDS31118.1	1	.	.	.	.	.	.	.	.	.	.	g	4.618	0.114948	0.08831	.	.	ENSG00000203661	ENST00000366473	T	0.00717	5.79	2.64	-0.145	0.13436	GPCR, rhodopsin-like superfamily (1);	0.409334	0.20633	N	0.088552	T	0.00412	0.0013	N	0.10733	0.035	0.09310	N	1	B	0.17852	0.024	B	0.18871	0.023	T	0.45716	-0.9242	10	0.11794	T	0.64	.	3.149	0.06481	0.3546:0.0:0.4439:0.2014	.	88	Q6IEZ7	OR2T5_HUMAN	N	88	ENSP00000355429:D88N	ENSP00000355429:D88N	D	+	1	0	OR2T5	246718774	0.000000	0.05858	0.995000	0.50966	0.958000	0.62258	-0.419000	0.07071	0.241000	0.21283	0.413000	0.27773	GAC	OR2T5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000203661		0.507	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T5	HGNC	protein_coding	OTTHUMT00000097422.1	44	0.00	0	G	NM_001004697		248652151	248652151	+1	no_errors	ENST00000366473	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	0.000	A
OR5AK2	390181	genome.wustl.edu	37	11	56756447	56756447	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr11:56756447delA	ENST00000326855.2	+	1	101	c.59delA	c.(58-60)cagfs	p.Q20fs		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q20fs*17(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTTGGTGCCCAGCATGAGTTT	0.408																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											149.0	142.0	145.0					11																	56756447		2201	4296	6497	-	-	-	SO:0001589	frameshift_variant	0			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.59delA	11.37:g.56756447delA	ENSP00000322784:p.Gln20fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNZ9	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Q20fs	ENST00000326855.2	37	c.59	CCDS31538.1	11																																																																																			OR5AK2	-	NULL	ENSG00000181273		0.408	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	HGNC	protein_coding	OTTHUMT00000392446.1	166	0.00	0	A	NM_001005323		56756447	56756447	+1	no_errors	ENST00000326855	ensembl	human	known	69_37n	frame_shift_del	109	39.58	76	DEL	0.028	-
OR5AK2	390181	genome.wustl.edu	37	11	56756448	56756448	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr11:56756448G>C	ENST00000326855.2	+	1	102	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q20H(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGGTGCCCAGCATGAGTTTT	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											150.0	143.0	145.0					11																	56756448		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.60G>C	11.37:g.56756448G>C	ENSP00000322784:p.Gln20His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNZ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Q20H	ENST00000326855.2	37	c.60	CCDS31538.1	11	.	.	.	.	.	.	.	.	.	.	G	1.158	-0.644714	0.03531	.	.	ENSG00000181273	ENST00000326855	T	0.01335	5.0	3.66	-3.31	0.04988	.	0.446761	0.16291	U	0.220910	T	0.02083	0.0065	L	0.28776	0.89	0.09310	N	1	D	0.56968	0.978	P	0.60345	0.873	T	0.44590	-0.9318	10	0.25106	T	0.35	-6.3727	6.4602	0.21952	0.366:0.0:0.4927:0.1413	.	20	Q8NH90	O5AK2_HUMAN	H	20	ENSP00000322784:Q20H	ENSP00000322784:Q20H	Q	+	3	2	OR5AK2	56513024	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.551000	0.00433	-0.425000	0.07371	-1.050000	0.02344	CAG	OR5AK2	-	NULL	ENSG00000181273		0.408	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	HGNC	protein_coding	OTTHUMT00000392446.1	171	0.00	0	G	NM_001005323		56756448	56756448	+1	no_errors	ENST00000326855	ensembl	human	known	69_37n	missense	109	42.63	81	SNP	0.000	C
OR8B2	26595	genome.wustl.edu	37	11	124252746	124252746	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr11:124252746C>G	ENST00000375013.2	-	1	512	c.494G>C	c.(493-495)aGa>aCa	p.R165T		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAGGTGAGTCTAAGCATGCA	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											22.0	23.0	22.0					11																	124252746		2200	4280	6480	-	-	-	SO:0001583	missense	0			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.494G>C	11.37:g.124252746C>G	ENSP00000364152:p.Arg165Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NGH2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R165T	ENST00000375013.2	37	c.494	CCDS31708.1	11	.	.	.	.	.	.	.	.	.	.	c	13.75	2.331160	0.41297	.	.	ENSG00000204293	ENST00000375013	T	0.00158	8.65	3.86	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00300	0.0009	L	0.50847	1.595	0.09310	N	1	D	0.69078	0.997	D	0.80764	0.994	T	0.54173	-0.8333	10	0.66056	D	0.02	.	9.3957	0.38401	0.0:0.702:0.298:0.0	.	165	Q96RD0	OR8B2_HUMAN	T	165	ENSP00000364152:R165T	ENSP00000364152:R165T	R	-	2	0	OR8B2	123757956	0.000000	0.05858	0.036000	0.18154	0.856000	0.48823	-0.271000	0.08572	2.175000	0.68902	0.194000	0.17425	AGA	OR8B2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204293		0.502	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	HGNC	protein_coding	OTTHUMT00000387290.1	45	0.00	0	C	NM_001005468		124252746	124252746	-1	no_errors	ENST00000375013	ensembl	human	known	69_37n	missense	13	63.89	23	SNP	0.077	G
OSBP2	23762	genome.wustl.edu	37	22	31302270	31302270	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr22:31302270G>A	ENST00000332585.6	+	14	2799	c.2695G>A	c.(2695-2697)Ggc>Agc	p.G899S	OSBP2_ENST00000535268.1_Missense_Mutation_p.G443S|OSBP2_ENST00000407373.1_Missense_Mutation_p.G726S|OSBP2_ENST00000382310.3_3'UTR|OSBP2_ENST00000403222.3_Missense_Mutation_p.G733S|OSBP2_ENST00000437268.2_Missense_Mutation_p.G642S|OSBP2_ENST00000446658.2_Missense_Mutation_p.G898S|OSBP2_ENST00000401475.1_Missense_Mutation_p.G532S	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	899					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.G899S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTACAAGGGCGGCTACTGGGA	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											83.0	101.0	95.0					22																	31302270		2146	4246	6392	-	-	-	SO:0001583	missense	0				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2695G>A	22.37:g.31302270G>A	ENSP00000332576:p.Gly899Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G899S	ENST00000332585.6	37	c.2695	CCDS43002.1	22	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453101	0.84209	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.77	2.63	0.31362	.	0.174236	0.50627	N	0.000109	T	0.50956	0.1646	M	0.80332	2.49	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.991;0.998;0.998	D;D;P;P;P	0.66716	0.91;0.946;0.876;0.883;0.883	T	0.51521	-0.8695	10	0.33141	T	0.24	-23.031	10.7525	0.46217	0.1602:0.0:0.8398:0.0	.	642;733;726;898;899	F5H2A3;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;OSBP2_HUMAN	S	733;726;899;898;532;642;443	ENSP00000384213:G733S;ENSP00000385237:G726S;ENSP00000332576:G899S;ENSP00000392080:G898S;ENSP00000385254:G532S;ENSP00000389200:G642S;ENSP00000438713:G443S	ENSP00000332576:G899S	G	+	1	0	OSBP2	29632270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.234000	0.72326	1.226000	0.43582	0.555000	0.69702	GGC	OSBP2	-	pfam_Oxysterol-bd	ENSG00000184792		0.607	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	HGNC	protein_coding	OTTHUMT00000321547.2	23	0.00	0	G	NM_030758		31302270	31302270	+1	no_errors	ENST00000332585	ensembl	human	known	69_37n	missense	13	58.06	18	SNP	1.000	A
OSMR	9180	genome.wustl.edu	37	5	38881757	38881757	+	Silent	SNP	C	C	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr5:38881757C>G	ENST00000274276.3	+	4	711	c.309C>G	c.(307-309)ctC>ctG	p.L103L	OSMR_ENST00000502536.1_Silent_p.L103L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	103					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.L103L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AATCTGAGCTCCCTTTGGAAT	0.473																																						dbGAP											2	Substitution - coding silent(2)	lung(1)|breast(1)											116.0	110.0	112.0					5																	38881757		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.309C>G	5.37:g.38881757C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4E8|Q96QJ6	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L103	ENST00000274276.3	37	c.309	CCDS3928.1	5																																																																																			OSMR	-	NULL	ENSG00000145623		0.473	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	113	0.00	0	C	NM_003999		38881757	38881757	+1	no_errors	ENST00000274276	ensembl	human	known	69_37n	silent	75	38.52	47	SNP	0.128	G
PCDHB12	56124	genome.wustl.edu	37	5	140588586	140588586	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr5:140588586T>C	ENST00000239450.2	+	1	296	c.107T>C	c.(106-108)aTg>aCg	p.M36T	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.M36T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTTGGTGATGGAGGAATTG	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											100.0	106.0	104.0					5																	140588586		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.107T>C	5.37:g.140588586T>C	ENSP00000239450:p.Met36Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.M36T	ENST00000239450.2	37	c.107	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	T	0.045	-1.270920	0.01421	.	.	ENSG00000120328	ENST00000239450	T	0.37235	1.21	4.15	-1.39	0.08997	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.12008	0.0292	N	0.02539	-0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.27157	-1.0082	9	0.23302	T	0.38	.	4.4303	0.11524	0.1445:0.4946:0.0:0.3609	.	36	Q9Y5F1	PCDBC_HUMAN	T	36	ENSP00000239450:M36T	ENSP00000239450:M36T	M	+	2	0	PCDHB12	140568770	0.000000	0.05858	0.028000	0.17463	0.035000	0.12851	0.213000	0.17521	-0.293000	0.08986	-0.366000	0.07423	ATG	PCDHB12	-	pfam_Cadherin_N,superfamily_Cadherin-like	ENSG00000120328		0.532	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	152	0.00	0	T	NM_018932		140588586	140588586	+1	no_errors	ENST00000239450	ensembl	human	known	69_37n	missense	38	60.00	57	SNP	0.007	C
PGM2L1	283209	genome.wustl.edu	37	11	74058348	74058348	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr11:74058348G>T	ENST00000298198.4	-	7	1095	c.784C>A	c.(784-786)Cac>Aac	p.H262N		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	262					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.H262N(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAAGATGTGTGCACAAATTTC	0.363																																						dbGAP											1	Substitution - Missense(1)	breast(1)											79.0	72.0	74.0					11																	74058348		2200	4293	6493	-	-	-	SO:0001583	missense	0			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.784C>A	11.37:g.74058348G>T	ENSP00000298198:p.His262Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MQ7|Q9UIK3	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III	p.H262N	ENST00000298198.4	37	c.784	CCDS8231.1	11	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717259	0.89205	.	.	ENSG00000165434	ENST00000298198	T	0.63096	-0.02	5.43	5.43	0.79202	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (3);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.66439	2.03	0.80722	D	1	D	0.64830	0.994	D	0.67725	0.953	T	0.78628	-0.2130	10	0.62326	D	0.03	-17.223	16.7553	0.85498	0.0:0.0:1.0:0.0	.	262	Q6PCE3	PGM2L_HUMAN	N	262	ENSP00000298198:H262N	ENSP00000298198:H262N	H	-	1	0	PGM2L1	73735996	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	9.869000	0.99810	2.523000	0.85059	0.655000	0.94253	CAC	PGM2L1	-	pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000165434		0.363	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	HGNC	protein_coding	OTTHUMT00000398324.1	125	0.00	0	G	NM_173582		74058348	74058348	-1	no_errors	ENST00000298198	ensembl	human	known	69_37n	missense	136	30.96	61	SNP	1.000	T
PIEZO2	63895	genome.wustl.edu	37	18	10761002	10761002	+	Silent	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr18:10761002G>A	ENST00000503781.3	-	22	3281	c.3282C>T	c.(3280-3282)atC>atT	p.I1094I	PIEZO2_ENST00000383408.2_Silent_p.I382I|PIEZO2_ENST00000580640.1_Silent_p.I1119I|PIEZO2_ENST00000302079.6_Silent_p.I1094I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1094					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.I1094I(1)									TGTCATGAAAGATAGTTCTAG	0.403																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											79.0	67.0	70.0					18																	10761002		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.3282C>T	18.37:g.10761002G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.I1108	ENST00000503781.3	37	c.3324		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.403	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	98	0.00	0	G	NM_022068		10761002	10761002	-1	no_errors	ENST00000582913	ensembl	human	known	69_37n	silent	23	51.06	24	SNP	0.999	A
POLR2C	5432	genome.wustl.edu	37	16	57503883	57503883	+	Silent	SNP	C	C	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr16:57503883C>T	ENST00000219252.5	+	7	788	c.450C>T	c.(448-450)atC>atT	p.I150I	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	150					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.I150I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ACATCCTCATCGTCAAGTTGA	0.537																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											53.0	50.0	51.0					16																	57503883		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.450C>T	16.37:g.57503883C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15161	Silent	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.I150	ENST00000219252.5	37	c.450	CCDS10782.1	16																																																																																			POLR2C	-	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000102978		0.537	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2C	HGNC	protein_coding	OTTHUMT00000257340.3	24	0.00	0	C	NM_032940		57503883	57503883	+1	no_errors	ENST00000219252	ensembl	human	known	69_37n	silent	10	56.52	13	SNP	0.852	T
PRKX	5613	genome.wustl.edu	37	X	3592796	3592796	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chrX:3592796A>C	ENST00000262848.5	-	2	532	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ACCCGCCCGAACGTCCCAGTG	0.557																																						dbGAP											0													117.0	92.0	101.0					X																	3592796		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.178T>G	X.37:g.3592796A>C	ENSP00000262848:p.Phe60Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F60V	ENST00000262848.5	37	c.178	CCDS14125.1	X	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129596	0.37630	.	.	ENSG00000183943	ENST00000262848	T	0.12774	2.65	2.62	2.62	0.31277	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.41396	0.1157	M	0.93550	3.43	0.80722	D	1	D	0.63046	0.992	D	0.65010	0.931	T	0.47407	-0.9120	10	0.87932	D	0	-19.8203	9.1861	0.37172	1.0:0.0:0.0:0.0	.	60	P51817	PRKX_HUMAN	V	60	ENSP00000262848:F60V	ENSP00000262848:F60V	F	-	1	0	PRKX	3602796	1.000000	0.71417	0.095000	0.20976	0.334000	0.28698	7.392000	0.79840	0.763000	0.33175	0.229000	0.17801	TTC	PRKX	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000183943		0.557	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKX	HGNC	protein_coding	OTTHUMT00000055659.1	52	0.00	0	A	NM_005044		3592796	3592796	-1	no_errors	ENST00000262848	ensembl	human	known	69_37n	missense	58	26.58	21	SNP	0.991	C
RBM41	55285	genome.wustl.edu	37	X	106331858	106331858	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chrX:106331858C>G	ENST00000372479.3	-	5	765	c.735G>C	c.(733-735)caG>caC	p.Q245H	RBM41_ENST00000372487.1_Missense_Mutation_p.Q245H|RBM41_ENST00000203616.8_Intron	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	245							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q245H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GGCCTTTACCCTGTGCTGCCT	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											85.0	68.0	73.0					X																	106331858		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.735G>C	X.37:g.106331858C>G	ENSP00000361557:p.Gln245His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q245H	ENST00000372479.3	37	c.735	CCDS14526.1	X	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705069	0.48412	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	T;T	0.25912	1.8;1.77	6.17	6.17	0.99709	.	0.308386	0.33980	N	0.004372	T	0.18425	0.0442	N	0.14661	0.345	0.80722	D	1	B	0.25609	0.13	B	0.26094	0.066	T	0.04885	-1.0920	10	0.49607	T	0.09	.	14.9686	0.71213	0.0:1.0:0.0:0.0	.	245	Q96IZ5	RBM41_HUMAN	H	245	ENSP00000361565:Q245H;ENSP00000361557:Q245H	ENSP00000361557:Q245H	Q	-	3	2	RBM41	106218514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.522000	0.35921	2.618000	0.88619	0.600000	0.82982	CAG	RBM41	-	NULL	ENSG00000089682		0.507	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM41	HGNC	protein_coding	OTTHUMT00000057819.1	127	0.00	0	C	NM_018301		106331858	106331858	-1	no_errors	ENST00000372479	ensembl	human	known	69_37n	missense	75	41.41	53	SNP	1.000	G
RCN1	5954	genome.wustl.edu	37	11	32119986	32119986	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr11:32119986T>A	ENST00000054950.3	+	3	832	c.539T>A	c.(538-540)cTc>cAc	p.L180H	RCN1_ENST00000532942.1_Missense_Mutation_p.L129H|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	180	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.L180H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					GCTGCAGACCTCAATGGTGAC	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	79.0	81.0					11																	32119986		2202	4299	6501	-	-	-	SO:0001583	missense	0			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.539T>A	11.37:g.32119986T>A	ENSP00000054950:p.Leu180His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1M1|D3DR00	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L180H	ENST00000054950.3	37	c.539	CCDS7876.1	11	.	.	.	.	.	.	.	.	.	.	t	12.70	2.015171	0.35511	.	.	ENSG00000049449	ENST00000530348;ENST00000532942;ENST00000054950;ENST00000532721	T;T;T	0.71817	0.85;-0.6;-0.6	5.45	3.0	0.34707	EF-hand-like domain (1);	0.130732	0.52532	D	0.000065	T	0.79621	0.4477	M	0.83012	2.62	0.58432	D	0.999999	P;P	0.48834	0.84;0.916	P;P	0.57425	0.72;0.82	T	0.78391	-0.2222	10	0.44086	T	0.13	-10.0324	8.7937	0.34866	0.1265:0.0:0.1328:0.7407	.	180;129	Q15293;B7Z1M1	RCN1_HUMAN;.	H	14;129;180;14	ENSP00000436482:L14H;ENSP00000436422:L129H;ENSP00000054950:L180H	ENSP00000054950:L180H	L	+	2	0	RCN1	32076562	1.000000	0.71417	0.717000	0.30585	0.114000	0.19823	4.257000	0.58816	0.898000	0.36418	0.482000	0.46254	CTC	RCN1	-	pfscan_EF_HAND_2	ENSG00000049449		0.448	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN1	HGNC	protein_coding	OTTHUMT00000388510.1	134	0.00	0	T	NM_002901		32119986	32119986	+1	no_errors	ENST00000054950	ensembl	human	known	69_37n	missense	98	39.13	63	SNP	0.990	A
RSPH10B2	728194	genome.wustl.edu	37	7	6820477	6820477	+	Silent	SNP	C	C	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr7:6820477C>T	ENST00000403107.1	+	13	1954	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L	RSPH10B2_ENST00000404077.1_Silent_p.L523L|RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000297186.3_Silent_p.L523L|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000433859.2_Silent_p.L523L			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	523								p.L523L(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TTTTACAAAACTGATGACCGA	0.363																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											142.0	147.0	145.0					7																	6820477		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.1567C>T	7.37:g.6820477C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Silent	SNP	pfam_MORN,smart_MORN	p.L523	ENST00000403107.1	37	c.1567	CCDS43552.1	7																																																																																			RSPH10B2	-	NULL	ENSG00000169402		0.363	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	269	0.00	0	C	NM_001099697		6820477	6820477	+1	no_errors	ENST00000297186	ensembl	human	known	69_37n	silent	61	68.21	133	SNP	0.929	T
SCFD2	152579	genome.wustl.edu	37	4	54011747	54011747	+	Silent	SNP	G	G	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr4:54011747G>A	ENST00000401642.3	-	5	1447	c.1314C>T	c.(1312-1314)agC>agT	p.S438S	SCFD2_ENST00000388940.4_Silent_p.S438S	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	438					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.S438S(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACTCCCCAATGCTCTAAAATA	0.378																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											77.0	82.0	80.0					4																	54011747		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1314C>T	4.37:g.54011747G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.S438	ENST00000401642.3	37	c.1314	CCDS33984.1	4																																																																																			SCFD2	-	superfamily_Sec1-like	ENSG00000184178		0.378	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	108	0.00	0	G	NM_152540		54011747	54011747	-1	no_errors	ENST00000401642	ensembl	human	known	69_37n	silent	78	30.36	34	SNP	0.974	A
SEC14L5	9717	genome.wustl.edu	37	16	5038173	5038173	+	Silent	SNP	C	C	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr16:5038173C>T	ENST00000251170.7	+	4	417	c.237C>T	c.(235-237)gtC>gtT	p.V79V		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	79	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.V79V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGCACGTGGTCTTCGTGCAGA	0.622																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											54.0	56.0	55.0					16																	5038173		2137	4241	6378	-	-	-	SO:0001819	synonymous_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.237C>T	16.37:g.5038173C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.V79	ENST00000251170.7	37	c.237	CCDS45403.1	16																																																																																			SEC14L5	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	ENSG00000103184		0.622	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	10	0.00	0	C			5038173	5038173	+1	no_errors	ENST00000251170	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	1.000	T
SNAPC3	6619	genome.wustl.edu	37	9	15451369	15451369	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr9:15451369A>G	ENST00000380821.3	+	6	960	c.784A>G	c.(784-786)Aaa>Gaa	p.K262E	SNAPC3_ENST00000380799.1_Missense_Mutation_p.K59E	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	262					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K262E(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TTATAATGATAAAAGATACCC	0.303																																						dbGAP											1	Substitution - Missense(1)	breast(1)											52.0	55.0	54.0					9																	15451369		2202	4295	6497	-	-	-	SO:0001583	missense	0			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.784A>G	9.37:g.15451369A>G	ENSP00000370200:p.Lys262Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	pfam_snRNA-activating_su3	p.K262E	ENST00000380821.3	37	c.784	CCDS6478.1	9	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606968	0.28623	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000421710;ENST00000380799	T;T;T	0.42513	0.97;0.97;0.97	5.27	5.27	0.74061	.	0.466534	0.25663	N	0.029127	T	0.26882	0.0658	N	0.19112	0.55	0.35340	D	0.786408	B	0.25390	0.125	B	0.27715	0.082	T	0.17531	-1.0366	10	0.05436	T	0.98	-11.5808	14.8863	0.70572	1.0:0.0:0.0:0.0	.	262	Q92966	SNPC3_HUMAN	E	262;212;212;59	ENSP00000370200:K262E;ENSP00000391832:K212E;ENSP00000370177:K59E	ENSP00000370177:K59E	K	+	1	0	SNAPC3	15441369	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.684000	0.68197	2.005000	0.58758	0.379000	0.24179	AAA	SNAPC3	-	pfam_snRNA-activating_su3	ENSG00000164975		0.303	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC3	HGNC	protein_coding	OTTHUMT00000051763.2	230	0.00	0	A	NM_001039697		15451369	15451369	+1	no_errors	ENST00000380821	ensembl	human	known	69_37n	missense	176	41.00	123	SNP	1.000	G
TLE2	7089	genome.wustl.edu	37	19	3028349	3028349	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr19:3028349C>T	ENST00000262953.6	-	3	416	c.154G>A	c.(154-156)Gag>Aag	p.E52K	TLE2_ENST00000586422.1_5'UTR|TLE2_ENST00000443826.3_5'UTR|TLE2_ENST00000590536.1_Missense_Mutation_p.E52K|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000591529.1_Missense_Mutation_p.E65K|TLE2_ENST00000426948.2_Missense_Mutation_p.E65K|TLE2_ENST00000447365.2_5'Flank	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	52	Gln-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.E52K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGTCTTCTCGCTGGCCAGC	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	55.0	57.0					19																	3028349		1990	4187	6177	-	-	-	SO:0001583	missense	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.154G>A	19.37:g.3028349C>T	ENSP00000262953:p.Glu52Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E52K	ENST00000262953.6	37	c.154	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.163645	0.94727	.	.	ENSG00000065717	ENST00000262953;ENST00000450017;ENST00000426948;ENST00000439015	T;T	0.68331	-0.32;-0.14	4.12	4.12	0.48240	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84392	0.5462	M	0.91090	3.175	0.51233	D	0.999916	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.995;0.909;0.995	D	0.88370	0.2994	10	0.87932	D	0	4.8473	14.237	0.65934	0.0:1.0:0.0:0.0	.	52;65;52	B4DZU9;F8WCH2;Q04725	.;.;TLE2_HUMAN	K	52;45;65;52	ENSP00000262953:E52K;ENSP00000392869:E65K	ENSP00000262953:E52K	E	-	1	0	TLE2	2979349	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	4.492000	0.60334	2.006000	0.58801	0.491000	0.48974	GAG	TLE2	-	pfam_Groucho/TLE_N	ENSG00000065717		0.592	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	23	0.00	0	C	NM_003260		3028349	3028349	-1	no_errors	ENST00000262953	ensembl	human	known	69_37n	missense	15	44.44	12	SNP	1.000	T
TM6SF2	53345	genome.wustl.edu	37	19	19377377	19377377	+	Silent	SNP	C	C	A			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr19:19377377C>A	ENST00000389363.4	-	9	918	c.846G>T	c.(844-846)ctG>ctT	p.L282L	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'Flank	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	282						integral component of membrane (GO:0016021)		p.L282L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CATAGGCAGCCAGGCCGCAGA	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											61.0	73.0	69.0					19																	19377377		2138	4253	6391	-	-	-	SO:0001819	synonymous_variant	0			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.846G>T	19.37:g.19377377C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0IJ64	Silent	SNP	pfam_Transmembrane_6/97	p.L282	ENST00000389363.4	37	c.846	CCDS42528.1	19																																																																																			TM6SF2	-	pfam_Transmembrane_6/97	ENSG00000213996		0.617	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	HGNC	protein_coding	OTTHUMT00000460122.2	21	0.00	0	C	NM_203510		19377377	19377377	-1	no_errors	ENST00000389363	ensembl	human	known	69_37n	silent	10	54.55	12	SNP	0.999	A
TMC3	342125	genome.wustl.edu	37	15	81625444	81625444	+	Silent	SNP	C	C	G	rs201930890		TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr15:81625444C>G	ENST00000359440.5	-	22	2754	c.2619G>C	c.(2617-2619)tcG>tcC	p.S873S	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Silent_p.S874S|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.S877S(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCAGCAAAGTCGAGGCCTGTG	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20161	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											122.0	118.0	119.0					15																	81625444		1936	4143	6079	-	-	-	SO:0001819	synonymous_variant	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2619G>C	15.37:g.81625444C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TMC	p.S873	ENST00000359440.5	37	c.2619	CCDS45324.1	15																																																																																			TMC3	-	NULL	ENSG00000188869		0.468	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	74	0.00	0	C	NM_181841		81625444	81625444	-1	no_errors	ENST00000359440	ensembl	human	known	69_37n	silent	63	32.98	31	SNP	0.000	G
TP53	7157	genome.wustl.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	A	rs11575997		TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr17:7576852C>A	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(24)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGACTTAGTACCTGAAGGGTG	0.458		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	GRCh37	CD002536	TP53	D	rs11575997						115.0	108.0	111.0					17																	7576852		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1G>T	17.37:g.7576852C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e8+1	ENST00000269305.4	37	c.993+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301218	0.40694	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	rs11575997	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.	TP53	-	-	ENSG00000141510		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	141	0.00	0	C	NM_000546	Intron	7576852	7576852	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	52	59.06	75	SNP	1.000	A
TP73-AS1	57212	genome.wustl.edu	37	1	3662660	3662660	+	RNA	SNP	G	G	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr1:3662660G>C	ENST00000452079.1	-	0	1226				TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											GACTGCCTGAGAGAATGAGCT	0.642																																						dbGAP											0													81.0	92.0	88.0					1																	3662660		2198	4284	6482	-	-	-			0					1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662660G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000452079.1	37	NULL		1																																																																																			TP73-AS1	-	-	ENSG00000227372		0.642	TP73-AS1-003	KNOWN	basic	antisense	TP73-AS1	HGNC	antisense	OTTHUMT00000009558.1	34	0.00	0	G	NR_033708		3662660	3662660	-1	no_errors	ENST00000418088	ensembl	human	known	69_37n	rna	28	30.00	12	SNP	0.012	C
TRIM67	440730	genome.wustl.edu	37	1	231344862	231344862	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr1:231344862C>G	ENST00000366653.5	+	8	1989	c.1989C>G	c.(1987-1989)caC>caG	p.H663Q	TRIM67_ENST00000449018.3_Missense_Mutation_p.H601Q|TRIM67_ENST00000366652.2_Missense_Mutation_p.H663Q|TRIM67_ENST00000444294.3_Missense_Mutation_p.H661Q			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	663	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.H663Q(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACGACAACCACCCAGACCCCG	0.637																																						dbGAP											2	Substitution - Missense(2)	breast(2)											87.0	97.0	93.0					1																	231344862		2186	4293	6479	-	-	-	SO:0001583	missense	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1989C>G	1.37:g.231344862C>G	ENSP00000355613:p.His663Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.H663Q	ENST00000366653.5	37	c.1989	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398111	0.83120	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.73	4.81	0.61882	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	L	0.59436	1.845	0.53005	D	0.999966	D	0.55385	0.971	P	0.61722	0.893	T	0.72316	-0.4330	10	0.31617	T	0.26	.	9.8089	0.40810	0.0:0.7813:0.0:0.2187	.	663	Q6ZTA4	TRI67_HUMAN	Q	661;663;601;663	ENSP00000412124:H661Q;ENSP00000355612:H663Q;ENSP00000400163:H601Q;ENSP00000355613:H663Q	ENSP00000355612:H663Q	H	+	3	2	TRIM67	229411485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.537000	0.45702	2.854000	0.98071	0.655000	0.94253	CAC	TRIM67	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000119283		0.637	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	22	0.00	0	C	NM_001004342		231344862	231344862	+1	no_errors	ENST00000366652	ensembl	human	known	69_37n	missense	28	37.78	17	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179613845	179613845	+	Intron	SNP	A	A	G			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr2:179613845A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S4428P|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACTGTCAGAAATTCTCTCA	0.338																																						dbGAP											0													50.0	52.0	51.0					2																	179613845		2202	4298	6500	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4005T>C	2.37:g.179613845A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S4428P	ENST00000591111.1	37	c.13282		2	.	.	.	.	.	.	.	.	.	.	A	16.71	3.197952	0.58126	.	.	ENSG00000155657	ENST00000360870	T	0.59772	0.24	5.95	-3.06	0.05379	.	.	.	.	.	T	0.32376	0.0827	N	0.19112	0.55	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.19910	-1.0291	9	0.42905	T	0.14	.	0.6608	0.00842	0.2449:0.3137:0.1496:0.2918	.	4428	Q8WZ42-6	.	P	4428	ENSP00000354117:S4428P	ENSP00000354117:S4428P	S	-	1	0	TTN	179322090	0.000000	0.05858	0.001000	0.08648	0.409000	0.31022	0.173000	0.16724	-0.072000	0.12864	0.460000	0.39030	TCT	TTN	-	NULL	ENSG00000155657		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	130	0.00	0	A	NM_133378		179613845	179613845	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	66	43.22	51	SNP	0.000	G
UNC5D	137970	genome.wustl.edu	37	8	35608205	35608205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr8:35608205G>T	ENST00000404895.2	+	13	2369	c.2041G>T	c.(2041-2043)Gag>Tag	p.E681*	UNC5D_ENST00000449677.1_Nonsense_Mutation_p.E257*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.E686*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.E614*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.E676*|UNC5D_ENST00000287272.2_Nonsense_Mutation_p.E612*	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	681					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E676*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCTCACTGGAGAGCCAATCAC	0.502																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											255.0	212.0	226.0					8																	35608205		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2041G>T	8.37:g.35608205G>T	ENSP00000385143:p.Glu681*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Nonsense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.E681*	ENST00000404895.2	37	c.2041	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	38	7.175297	0.98114	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	.	.	.	5.9	5.9	0.94986	.	0.043130	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-22.2006	20.2822	0.98520	0.0:0.0:1.0:0.0	.	.	.	.	X	681;614;612;686;676;257	.	ENSP00000287272:E612X	E	+	1	0	UNC5D	35727747	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GAG	UNC5D	-	NULL	ENSG00000156687		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	112	0.00	0	G			35608205	35608205	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	nonsense	30	75.81	94	SNP	1.000	T
UROS	7390	genome.wustl.edu	37	10	127505059	127505059	+	Missense_Mutation	SNP	G	G	A	rs121908015		TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr10:127505059G>A	ENST00000368797.4	-	2	234	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	UROS_ENST00000368786.1_Missense_Mutation_p.L4F|UROS_ENST00000368774.1_Missense_Mutation_p.L4F|UROS_ENST00000368778.3_Missense_Mutation_p.L4F	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	4			L -> F (in CEP). {ECO:0000269|PubMed:1733834}.		cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TTCAGTAAAAGAACCTTCATT	0.453																																						dbGAP											0			GRCh37	CM920704	UROS	M	rs121908015						138.0	122.0	128.0					10																	127505059		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.10C>T	10.37:g.127505059G>A	ENSP00000357787:p.Leu4Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth	p.L4F	ENST00000368797.4	37	c.10	CCDS7648.1	10	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227654	0.79576	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761;ENST00000368778;ENST00000368774	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.17	5.17	0.71159	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (1);	0.000000	0.85682	D	0.000000	D	0.96454	0.8843	M	0.81239	2.535	0.58432	A	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.95902	0.8916	9	0.45353	T	0.12	-18.8131	15.6934	0.77473	0.0:0.0:1.0:0.0	.	4	P10746	HEM4_HUMAN	F	4	ENSP00000357787:L4F;ENSP00000357775:L4F;ENSP00000414833:L4F;ENSP00000357767:L4F;ENSP00000357763:L4F	ENSP00000357763:L4F	L	-	1	0	UROS	127495049	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.188000	0.58351	2.678000	0.91216	0.655000	0.94253	CTT	UROS	-	superfamily_4pyrrol_synth_uPrphyn_synth	ENSG00000188690		0.453	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROS	HGNC	protein_coding	OTTHUMT00000050929.1	111	0.00	0	G	NM_000375		127505059	127505059	-1	no_errors	ENST00000368786	ensembl	human	known	69_37n	missense	34	69.37	77	SNP	1.000	A
USP43	124739	genome.wustl.edu	37	17	9586235	9586236	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr17:9586235_9586236delCT	ENST00000285199.7	+	7	1297_1298	c.1201_1202delCT	c.(1201-1203)ctcfs	p.L401fs	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Frame_Shift_Del_p.L401fs	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	401	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.F403fs*2(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGTGCTAATCCTCTTCTGTAAC	0.54																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1201_1202delCT	17.37:g.9586237_9586238delCT	ENSP00000285199:p.Leu401fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F402fs	ENST00000285199.7	37	c.1201_1202	CCDS45610.1	17																																																																																			USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000154914		0.540	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	101	0.00	0	CT	NM_153210		9586235	9586236	+1	no_errors	ENST00000285199	ensembl	human	known	69_37n	frame_shift_del	34	58.33	49	DEL	1.000:1.000	-
WDR45	11152	genome.wustl.edu	37	X	48932526	48932526	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chrX:48932526T>C	ENST00000376372.3	-	11	1200	c.1019A>G	c.(1018-1020)gAt>gGt	p.D340G	WDR45_ENST00000473974.1_Nonstop_Mutation_p.*257W|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.D326G|WDR45_ENST00000376368.2_Missense_Mutation_p.D341G|WDR45_ENST00000356463.3_Missense_Mutation_p.D341G|WDR45_ENST00000322995.8_Missense_Mutation_p.D351G|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.D305G|PRAF2_ENST00000376386.3_5'Flank|PRAF2_ENST00000491199.1_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	340					autophagy (GO:0006914)|cell death (GO:0008219)			p.D341G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GCAGTTTCCATCAGGAGTGAA	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											93.0	89.0	91.0					X																	48932526		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.1019A>G	X.37:g.48932526T>C	ENSP00000365551:p.Asp340Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D351G	ENST00000376372.3	37	c.1052	CCDS35250.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.87|17.87	3.493873|3.493873	0.64186|0.64186	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681|ENST00000486337;ENST00000367375;ENST00000473974;ENST00000475977	T;T;T;T;T;T|.	0.77358|.	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.052431|.	0.64402|.	D|.	0.000001|.	T|.	0.63295|.	0.2499|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;B|.	0.58620|.	0.983;0.97;0.983;0.006|.	D;P;P;B|.	0.64144|.	0.922;0.697;0.841;0.017|.	T|.	0.61931|.	-0.6961|.	10|.	0.26408|.	T|.	0.33|.	-11.0423|-11.0423	13.1655|13.1655	0.59569|0.59569	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	351;305;341;340|.	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|.	.;.;.;WIPI4_HUMAN|.	G|W	340;351;341;305;341;326|60;266;257;119	ENSP00000365551:D340G;ENSP00000365543:D351G;ENSP00000348848:D341G;ENSP00000419897:D305G;ENSP00000365546:D341G;ENSP00000379913:D326G|.	ENSP00000365543:D351G|.	D|X	-|-	2|3	0|0	WDR45|WDR45	48819470|48819470	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	7.268000|7.268000	0.78473|0.78473	1.912000|1.912000	0.55364|0.55364	0.486000|0.486000	0.48141|0.48141	GAT|TGA	WDR45	-	NULL	ENSG00000196998		0.547	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	78	0.00	0	T	NM_007075		48932526	48932526	-1	no_errors	ENST00000322995	ensembl	human	known	69_37n	missense	56	41.05	39	SNP	1.000	C
XPO6	23214	genome.wustl.edu	37	16	28187312	28187312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B6-A0X1-01A-11D-A10G-09	TCGA-B6-A0X1-10A-01D-A117-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a492abf9-0cd3-402c-89e2-c49d650ef540	8c39f4bf-c997-41a9-8b36-37e9e9e6124b	g.chr16:28187312G>T	ENST00000304658.5	-	4	812	c.312C>A	c.(310-312)taC>taA	p.Y104*	XPO6_ENST00000565698.1_Nonsense_Mutation_p.Y90*	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	104					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.Y104*(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCCGGATAAAGTAAGGTAAGG	0.418																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											87.0	81.0	83.0					16																	28187312		1871	4112	5983	-	-	-	SO:0001587	stop_gained	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.312C>A	16.37:g.28187312G>T	ENSP00000302790:p.Tyr104*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Nonsense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Y104*	ENST00000304658.5	37	c.312	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764075	0.69878	.	.	ENSG00000169180	ENST00000304658	.	.	.	5.42	0.612	0.17591	.	0.180776	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6171	8.5882	0.33670	0.3859:0.0:0.6141:0.0	.	.	.	.	X	104	.	ENSP00000302790:Y104X	Y	-	3	2	XPO6	28094813	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.469000	0.45110	0.343000	0.23821	-0.136000	0.14681	TAC	XPO6	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000169180		0.418	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	104	0.00	0	G	XM_055195		28187312	28187312	-1	no_errors	ENST00000304658	ensembl	human	known	69_37n	nonsense	68	44.72	55	SNP	1.000	T
