#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_ORegAnno_bin	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
ABCA13	154664	genome.wustl.edu	37	7	48315435	48315435	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr7:48315435C>G	ENST00000435803.1	+	17	6196	c.6172C>G	c.(6172-6174)Cta>Gta	p.L2058V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2058					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L2058V(1)|p.L2003V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTTGAAGAACTATGGCCCAA	0.333																																						dbGAP											2	Substitution - Missense(2)	breast(2)											43.0	40.0	41.0					7																	48315435		1819	4086	5905	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6172C>G	7.37:g.48315435C>G	ENSP00000411096:p.Leu2058Val		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2058V	ENST00000435803.1	37	c.6172	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634602	0.29068	.	.	ENSG00000179869	ENST00000435803	T	0.15603	2.41	4.65	3.76	0.43208	.	0.955958	0.08510	N	0.935046	T	0.22859	0.0552	L	0.59436	1.845	0.09310	N	1	D	0.62365	0.991	P	0.49387	0.609	T	0.24584	-1.0156	9	.	.	.	.	3.9872	0.09521	0.2065:0.6212:0.0:0.1722	.	2058	Q86UQ4	ABCAD_HUMAN	V	2058	ENSP00000411096:L2058V	.	L	+	1	2	ABCA13	48285981	0.000000	0.05858	0.004000	0.12327	0.075000	0.17131	0.082000	0.14847	2.308000	0.77769	0.484000	0.47621	CTA	ABCA13	-	NULL	ENSG00000179869		0.333	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	78	0.00	0	C	NM_152701		48315435	48315435	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	96	20.66	25	SNP	0.001	G
AMBRA1	55626	genome.wustl.edu	37	11	46419132	46419132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr11:46419132delG	ENST00000458649.2	-	18	4183	c.3765delC	c.(3763-3765)cccfs	p.P1255fs	AMBRA1_ENST00000533727.1_Frame_Shift_Del_p.P1136fs|AMBRA1_ENST00000314845.3_Frame_Shift_Del_p.P1165fs|AMBRA1_ENST00000534300.1_Frame_Shift_Del_p.P1195fs|AMBRA1_ENST00000426438.1_Frame_Shift_Del_p.P1226fs|AMBRA1_ENST00000528950.1_Frame_Shift_Del_p.P1226fs|AMBRA1_ENST00000298834.3_Frame_Shift_Del_p.P1195fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1255					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AAACAGGAATGGGGACAGGGG	0.647																																						dbGAP											0													67.0	67.0	67.0					11																	46419132		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3765delC	11.37:g.46419132delG	ENSP00000415327:p.Pro1255fs		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1256fs	ENST00000458649.2	37	c.3765		11																																																																																			AMBRA1	-	NULL	ENSG00000110497		0.647	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	111	0.00	0	G	NM_017749		46419132	46419132	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	frame_shift_del	127	25.84	46	DEL	0.003	-
ANKRD17	26057	genome.wustl.edu	37	4	74124127	74124127	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr4:74124127C>T	ENST00000358602.4	-	1	375	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E87K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	87					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E87K(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ctgctgcTTTCGCTGCTGCTG	0.667																																						dbGAP											1	Substitution - Missense(1)	breast(1)											32.0	32.0	32.0					4																	74124127		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.259G>A	4.37:g.74124127C>T	ENSP00000351416:p.Glu87Lys		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.E87K	ENST00000358602.4	37	c.259	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646833	0.67358	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000411811	T;T	0.65178	-0.14;-0.13	3.91	3.91	0.45181	.	0.476347	0.15615	U	0.253193	T	0.40546	0.1121	N	0.08118	0	0.28557	N	0.91134	B;B;B	0.24533	0.105;0.105;0.064	B;B;B	0.10450	0.005;0.005;0.002	T	0.34925	-0.9809	10	0.45353	T	0.12	.	11.5887	0.50933	0.0:1.0:0.0:0.0	.	87;87;87	O75179-2;G5E964;O75179	.;.;ANR17_HUMAN	K	87	ENSP00000351416:E87K;ENSP00000332265:E87K	ENSP00000332265:E87K	E	-	1	0	ANKRD17	74342991	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	1.776000	0.38594	2.153000	0.67306	0.491000	0.48974	GAA	ANKRD17	-	NULL	ENSG00000132466		0.667	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	90	0.00	0	C	NM_032217		74124127	74124127	-1	no_errors	ENST00000358602	ensembl	human	known	69_37n	missense	28	46.15	24	SNP	1.000	T
ARHGDIB	397	genome.wustl.edu	37	12	15095600	15095600	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr12:15095600C>A	ENST00000228945.4	-	6	606	c.462G>T	c.(460-462)gaG>gaT	p.E154D	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.E154D|ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.E154D	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	154					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)	p.E154D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GAGTGAGGAACTCATACTCCT	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											148.0	116.0	127.0					12																	15095600		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.462G>T	12.37:g.15095600C>A	ENSP00000228945:p.Glu154Asp		B5BU79	Missense_Mutation	SNP	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	p.E154D	ENST00000228945.4	37	c.462	CCDS8671.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.587|9.587	1.125109|1.125109	0.20959|0.20959	.|.	.|.	ENSG00000111348|ENSG00000111348	ENST00000228945;ENST00000541644;ENST00000541546;ENST00000545895|ENST00000536592	.|.	.|.	.|.	4.41|4.41	2.53|2.53	0.30540|0.30540	Immunoglobulin E-set (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.48218|0.48218	1.51|1.51	0.48087|0.48087	D|D	0.999582|0.999582	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.48031|0.48031	-0.9070|-0.9070	9|5	0.25751|.	T|.	0.34|.	-30.6128|-30.6128	9.231|9.231	0.37437|0.37437	0.0:0.817:0.0:0.183|0.0:0.817:0.0:0.183	.|.	154|.	P52566|.	GDIR2_HUMAN|.	D|F	154|148	.|.	ENSP00000228945:E154D|.	E|V	-|-	3|1	2|0	ARHGDIB|ARHGDIB	14986867|14986867	0.965000|0.965000	0.33210|0.33210	1.000000|1.000000	0.80357|0.80357	0.331000|0.331000	0.28603|0.28603	0.100000|0.100000	0.15231|0.15231	0.579000|0.579000	0.29504|0.29504	0.650000|0.650000	0.86243|0.86243	GAG|GTT	ARHGDIB	-	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	ENSG00000111348		0.507	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGDIB	HGNC	protein_coding	OTTHUMT00000400871.1	87	0.00	0	C	NM_001175		15095600	15095600	-1	no_errors	ENST00000228945	ensembl	human	known	69_37n	missense	51	20.31	13	SNP	1.000	A
ARHGEF12	23365	genome.wustl.edu	37	11	120352172	120352172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr11:120352172G>T	ENST00000397843.2	+	39	4607	c.4441G>T	c.(4441-4443)Gga>Tga	p.G1481*	ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.G1378*|ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.G1462*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1481					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1481*(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GCAGCGCTGGGGAGCTATGGA	0.502			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - Nonsense(1)	breast(1)											89.0	91.0	90.0					11																	120352172		1914	4138	6052	-	-	-	SO:0001587	stop_gained	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4441G>T	11.37:g.120352172G>T	ENSP00000380942:p.Gly1481*		O15086|Q6P526	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G1462*	ENST00000397843.2	37	c.4384	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	46	12.888270	0.99704	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	6.08	5.15	0.70609	.	0.143577	0.31847	N	0.006970	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6294	15.3264	0.74168	0.0:0.2629:0.7371:0.0	.	.	.	.	X	1481;1462;1378	.	ENSP00000349056:G1462X	G	+	1	0	ARHGEF12	119857382	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.180000	0.32005	1.525000	0.49052	0.655000	0.94253	GGA	ARHGEF12	-	NULL	ENSG00000196914		0.502	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	115	0.00	0	G	NM_015313		120352172	120352172	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	nonsense	92	34.29	48	SNP	1.000	T
ATP2B4	493	genome.wustl.edu	37	1	203702418	203702418	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr1:203702418G>T	ENST00000341360.2	+	20	3774	c.3377G>T	c.(3376-3378)gGt>gTt	p.G1126V	ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1114V|ATP2B4_ENST00000357681.5_Intron|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1126V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.G1090V			P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1126					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.G1126V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAACATGGGTCAACACCTT	0.458																																						dbGAP											1	Substitution - Missense(1)	breast(1)											220.0	194.0	203.0					1																	203702418		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000341360.2:c.3377G>T	1.37:g.203702418G>T	ENSP00000340930:p.Gly1126Val		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	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,pfam_ATP_Ca_trans_C,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.G1126V	ENST00000341360.2	37	c.3377	CCDS30977.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.39|14.39	2.521540|2.521540	0.44866|0.44866	.|.	.|.	ENSG00000058668|ENSG00000058668	ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360|ENST00000356729	T;T;T;T|.	0.75821|.	-0.97;-0.97;-0.97;-0.97|.	4.8|4.8	1.75|1.75	0.24633|0.24633	.|.	0.442764|.	0.16777|.	N|.	0.199969|.	T|T	0.41442|0.41442	0.1159|0.1159	N|N	0.22421|0.22421	0.69|0.69	0.48901|0.48901	D|D	0.999728|0.999728	B;B|.	0.32653|.	0.379;0.379|.	B;B|.	0.35182|.	0.129;0.197|.	T|T	0.11591|0.11591	-1.0581|-1.0581	10|5	0.18710|.	T|.	0.47|.	.|.	10.1905|10.1905	0.43024|0.43024	0.0729:0.2524:0.6747:0.0|0.0729:0.2524:0.6747:0.0	.|.	1126;1126|.	P23634;B1APW5|.	AT2B4_HUMAN;.|.	V|F	1126;1114;1090;1126|91	ENSP00000356187:G1126V;ENSP00000356188:G1114V;ENSP00000375816:G1090V;ENSP00000340930:G1126V|.	ENSP00000340930:G1126V|.	G|V	+|+	2|1	0|0	ATP2B4|ATP2B4	201969041|201969041	1.000000|1.000000	0.71417|0.71417	0.830000|0.830000	0.32933|0.32933	0.984000|0.984000	0.73092|0.73092	3.571000|3.571000	0.53841|0.53841	0.596000|0.596000	0.29794|0.29794	-0.176000|-0.176000	0.13171|0.13171	GGT|GTC	ATP2B4	-	pfam_ATP_Ca_trans_C	ENSG00000058668		0.458	ATP2B4-002	KNOWN	basic|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087463.1	215	0.00	0	G	NM_001001396		203702418	203702418	+1	no_errors	ENST00000341360	ensembl	human	known	69_37n	missense	289	12.42	41	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76949382	76949382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chrX:76949382delC	ENST00000373344.5	-	6	629	c.415delG	c.(415-417)gatfs	p.D140fs	ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000373341.1_Frame_Shift_Del_p.D101fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	140					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.D139fs*14(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAAAATCATCTTTGTCTTCA	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Deletion - Frameshift(2)|Unknown(1)	breast(2)|bone(1)											167.0	148.0	154.0					X																	76949382		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.415delG	X.37:g.76949382delC	ENSP00000362441:p.Asp140fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D139fs	ENST00000373344.5	37	c.415	CCDS14434.1	X																																																																																			ATRX	-	NULL	ENSG00000085224		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	537	0.00	0	C	NM_000489		76949382	76949382	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	frame_shift_del	320	17.33	70	DEL	1.000	-
CACNA1A	773	genome.wustl.edu	37	19	13340904	13340904	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr19:13340904delG	ENST00000360228.5	-	36	5519	c.5520delC	c.(5518-5520)cccfs	p.P1840fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.P1841fs|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1841					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCAAGCTGCGGGGTCATACT	0.592																																						dbGAP											0													59.0	66.0	64.0					19																	13340904		2051	4220	6271	-	-	-	SO:0001589	frameshift_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5520delC	19.37:g.13340904delG	ENSP00000353362:p.Pro1840fs		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.A1841fs	ENST00000360228.5	37	c.5520	CCDS45998.1	19																																																																																			CACNA1A	-	NULL	ENSG00000141837		0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	85	0.00	0	G	NM_000068		13340904	13340904	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	frame_shift_del	97	25.74	35	DEL	0.997	-
CASC4	113201	genome.wustl.edu	37	15	44630015	44630015	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr15:44630015C>G	ENST00000345795.2	+	5	901	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E	CASC4_ENST00000299957.6_Missense_Mutation_p.Q211E|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	211						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q211E(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TATAAACAATCAAGTAGTACC	0.308																																						dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	66.0	66.0					15																	44630015		2198	4295	6493	-	-	-	SO:0001583	missense	0			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.631C>G	15.37:g.44630015C>G	ENSP00000335063:p.Gln211Glu		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	NULL	p.Q211E	ENST00000345795.2	37	c.631	CCDS10109.1	15	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.074338	0.00379	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	D;D	0.84146	-1.81;-1.81	4.85	3.93	0.45458	.	0.393157	0.24978	N	0.034100	T	0.73590	0.3606	L	0.40543	1.245	0.80722	D	1	B;B;B	0.28055	0.034;0.007;0.199	B;B;B	0.29862	0.036;0.009;0.108	T	0.62581	-0.6824	10	0.06625	T	0.88	.	5.7114	0.17937	0.1937:0.7087:0.0:0.0976	.	211;211;211	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	E	211;211;190	ENSP00000299957:Q211E;ENSP00000335063:Q211E	ENSP00000299957:Q211E	Q	+	1	0	CASC4	42417307	1.000000	0.71417	0.997000	0.53966	0.074000	0.17049	0.765000	0.26546	1.273000	0.44346	0.561000	0.74099	CAA	CASC4	-	NULL	ENSG00000166734		0.308	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC4	HGNC	protein_coding	OTTHUMT00000253816.1	122	0.00	0	C	NM_138423		44630015	44630015	+1	no_errors	ENST00000299957	ensembl	human	known	69_37n	missense	128	39.05	82	SNP	0.981	G
CDK17	5128	genome.wustl.edu	37	12	96728499	96728499	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr12:96728499T>C	ENST00000261211.3	-	2	719	c.116A>G	c.(115-117)aAt>aGt	p.N39S	CDK17_ENST00000543119.2_Missense_Mutation_p.N39S|CDK17_ENST00000542666.1_Intron	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	39					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.N39S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ATATTTACCATTATCCTTGCT	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											149.0	146.0	147.0					12																	96728499		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.116A>G	12.37:g.96728499T>C	ENSP00000261211:p.Asn39Ser		A8K1U6|B2RCQ2|Q8NEB8	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,pfscan_Prot_kinase_cat_dom	p.N39S	ENST00000261211.3	37	c.116	CCDS9061.1	12	.	.	.	.	.	.	.	.	.	.	T	9.037	0.988615	0.18966	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000551816;ENST00000552496;ENST00000548734;ENST00000552262	T;T;T;T;T	0.71103	-0.52;-0.54;0.88;0.86;0.61	5.64	5.64	0.86602	.	0.090226	0.85682	D	0.000000	T	0.47764	0.1463	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48222	-0.9054	10	0.09590	T	0.72	-14.5751	15.8513	0.78934	0.0:0.0:0.0:1.0	.	39;39	A8K1U6;Q00537	.;CDK17_HUMAN	S	39;39;39;39;59;39	ENSP00000261211:N39S;ENSP00000444459:N39S;ENSP00000450058:N39S;ENSP00000447282:N39S;ENSP00000447441:N59S	ENSP00000261211:N39S	N	-	2	0	CDK17	95252630	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	3.431000	0.52814	2.152000	0.67230	0.533000	0.62120	AAT	CDK17	-	NULL	ENSG00000059758		0.353	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	328	0.00	0	T	NM_002595		96728499	96728499	-1	no_errors	ENST00000261211	ensembl	human	known	69_37n	missense	296	19.13	70	SNP	1.000	C
CEP164	22897	genome.wustl.edu	37	11	117263223	117263223	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr11:117263223C>G	ENST00000278935.3	+	19	2520	c.2373C>G	c.(2371-2373)agC>agG	p.S791R	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	791	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S791R(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGTCTCCAGCCTCCAGAAGA	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	73.0	74.0					11																	117263223		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2373C>G	11.37:g.117263223C>G	ENSP00000278935:p.Ser791Arg		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S791R	ENST00000278935.3	37	c.2373	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633212	0.47049	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.42900	0.96	4.3	3.37	0.38596	.	0.937420	0.09021	N	0.860211	T	0.46946	0.1419	L	0.29908	0.895	0.27084	N	0.963016	D;P;D;P	0.55385	0.971;0.95;0.971;0.815	P;P;P;B	0.58454	0.502;0.648;0.839;0.387	T	0.36335	-0.9752	10	0.23302	T	0.38	-0.0736	12.1001	0.53778	0.0:0.6676:0.3324:0.0	.	765;565;791;794	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	R	791;765;672	ENSP00000278935:S791R	ENSP00000278935:S791R	S	+	3	2	CEP164	116768433	0.725000	0.28048	0.941000	0.38009	0.903000	0.53119	0.644000	0.24766	1.002000	0.39104	0.462000	0.41574	AGC	CEP164	-	NULL	ENSG00000110274		0.567	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	111	0.00	0	C	NM_014956		117263223	117263223	+1	no_errors	ENST00000278935	ensembl	human	known	69_37n	missense	75	36.44	43	SNP	0.922	G
COL1A1	1277	genome.wustl.edu	37	17	48270012	48270012	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr17:48270012G>T	ENST00000225964.5	-	28	2036	c.1918C>A	c.(1918-1920)Ccc>Acc	p.P640T		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	640	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P640T(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TGGAATCCGGGGGAGCCAGCA	0.607			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															dbGAP		Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	1	Substitution - Missense(1)	breast(1)											90.0	105.0	100.0					17																	48270012		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1918C>A	17.37:g.48270012G>T	ENSP00000225964:p.Pro640Thr		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P640T	ENST00000225964.5	37	c.1918	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	G	9.860	1.195936	0.22037	.	.	ENSG00000108821	ENST00000225964	D	0.96856	-4.15	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	L	0.45137	1.4	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	D	0.90430	0.4423	10	0.10636	T	0.68	.	17.1172	0.86692	0.0:0.0:1.0:0.0	.	640	P02452	CO1A1_HUMAN	T	640	ENSP00000225964:P640T	ENSP00000225964:P640T	P	-	1	0	COL1A1	45625011	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	3.395000	0.52558	2.343000	0.79666	0.650000	0.86243	CCC	COL1A1	-	NULL	ENSG00000108821		0.607	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	137	0.00	0	G			48270012	48270012	-1	no_errors	ENST00000225964	ensembl	human	known	69_37n	missense	99	40.00	66	SNP	1.000	T
COL5A2	1290	genome.wustl.edu	37	2	189898939	189898939	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr2:189898939G>A	ENST00000374866.3	-	54	4631	c.4357C>T	c.(4357-4359)Cgg>Tgg	p.R1453W		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1453	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1453W(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTTCCATTCCGCTTCTGAAAT	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											82.0	73.0	76.0					2																	189898939		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4357C>T	2.37:g.189898939G>A	ENSP00000364000:p.Arg1453Trp		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.R1453W	ENST00000374866.3	37	c.4357	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861064	0.32884	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.74737	-0.87	4.8	3.91	0.45181	Fibrillar collagen, C-terminal (4);	0.000000	0.43579	D	0.000547	D	0.84479	0.5481	M	0.77712	2.385	0.46336	D	0.998998	D;D	0.76494	0.997;0.999	P;D	0.64321	0.875;0.924	D	0.86989	0.2109	10	0.72032	D	0.01	.	14.7825	0.69776	0.0:0.0:0.8545:0.1455	.	1093;1453	Q5PR22;P05997	.;CO5A2_HUMAN	W	1453;1093	ENSP00000364000:R1453W	ENSP00000364000:R1453W	R	-	1	2	COL5A2	189607184	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.249000	0.78278	1.354000	0.45846	-0.188000	0.12872	CGG	COL5A2	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000204262		0.403	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	138	0.00	0	G	NM_000393		189898939	189898939	-1	no_errors	ENST00000374866	ensembl	human	known	69_37n	missense	87	19.27	21	SNP	1.000	A
CPAMD8	27151	genome.wustl.edu	37	19	17015133	17015133	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr19:17015133A>G	ENST00000443236.1	-	32	4326	c.4295T>C	c.(4294-4296)cTg>cCg	p.L1432P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1385						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L1432P(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGTGTAGGTCAGAAGGGCGTA	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	71.0	70.0					19																	17015133		2078	4217	6295	-	-	-	SO:0001583	missense	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4295T>C	19.37:g.17015133A>G	ENSP00000402505:p.Leu1432Pro		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.L1432P	ENST00000443236.1	37	c.4295	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.58|16.58	3.162545|3.162545	0.57368|0.57368	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.02|3.02	3.02|3.02	0.34903|0.34903	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);|.	0.000000|.	0.56097|.	U|.	0.000039|.	D|.	0.86611|.	0.5974|.	H|H	0.97540|0.97540	4.025|4.025	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|.	0.89243|.	0.3585|.	9|.	0.87932|.	D|.	0|.	.|.	11.2269|11.2269	0.48888|0.48888	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1385|.	Q8IZJ3|.	CPMD8_HUMAN|.	P|R	1432|1443	.|.	ENSP00000291440:L1432P|.	L|X	-|-	2|1	0|0	CPAMD8|CPAMD8	16876133|16876133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.652000|0.652000	0.38707|0.38707	7.347000|7.347000	0.79356|0.79356	1.035000|1.035000	0.39972|0.39972	0.374000|0.374000	0.22700|0.22700	CTG|TGA	CPAMD8	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000160111		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	65	0.00	0	A	NM_015692		17015133	17015133	-1	no_errors	ENST00000291440	ensembl	human	known	69_37n	missense	58	17.14	12	SNP	1.000	G
CYB5R4	51167	genome.wustl.edu	37	6	84574045	84574045	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr6:84574045G>C	ENST00000369681.5	+	2	367	c.227G>C	c.(226-228)aGa>aCa	p.R76T	CYB5R4_ENST00000369679.4_Missense_Mutation_p.R42T	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	76	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.R76T(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATATGCATAAGAGGTAGGTGG	0.323																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	79.0	80.0					6																	84574045		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.227G>C	6.37:g.84574045G>C	ENSP00000358695:p.Arg76Thr		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	pfam_Cyt_B5,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_domain,superfamily_Cyt_B5,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Cyt_B5,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5	p.R76T	ENST00000369681.5	37	c.227	CCDS5000.2	6	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558620	0.86231	.	.	ENSG00000065615	ENST00000369681;ENST00000369679	D;D	0.81499	-1.5;-1.5	5.41	5.41	0.78517	Cytochrome b5 (4);	0.046351	0.85682	D	0.000000	D	0.91250	0.7242	M	0.93550	3.43	0.80722	D	1	D	0.58620	0.983	D	0.63597	0.916	D	0.92865	0.6309	10	0.66056	D	0.02	.	19.183	0.93630	0.0:0.0:1.0:0.0	.	76	Q7L1T6	NB5R4_HUMAN	T	76;42	ENSP00000358695:R76T;ENSP00000358693:R42T	ENSP00000358693:R42T	R	+	2	0	CYB5R4	84630764	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.357000	0.97099	2.530000	0.85305	0.585000	0.79938	AGA	CYB5R4	-	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5	ENSG00000065615		0.323	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R4	HGNC	protein_coding	OTTHUMT00000041362.4	105	0.00	0	G	NM_016230		84574045	84574045	+1	no_errors	ENST00000369681	ensembl	human	known	69_37n	missense	119	31.61	55	SNP	1.000	C
CYHR1	50626	genome.wustl.edu	37	8	145678614	145678614	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr8:145678614C>T	ENST00000438911.2	-	3	609	c.476G>A	c.(475-477)tGc>tAc	p.C159Y	CYHR1_ENST00000530374.1_Missense_Mutation_p.C201Y	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	159						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)	p.C159Y(1)		haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTGTCCTGGCATTCCTCTTT	0.652																																						dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	57.0	56.0					8																	145678614		692	1591	2283	-	-	-	SO:0001583	missense	0			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.476G>A	8.37:g.145678614C>T	ENSP00000387426:p.Cys159Tyr		B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	superfamily_TRAF-like,pfscan_Znf_TRAF	p.C159Y	ENST00000438911.2	37	c.476	CCDS47943.1	8	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555842	0.86231	.	.	ENSG00000187954	ENST00000438911;ENST00000530374;ENST00000526887;ENST00000533173	T;T;T	0.69806	-0.43;-0.43;-0.43	5.7	5.7	0.88788	Zinc finger, TRAF-type (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85493	0.1186	10	0.87932	D	0	-35.2272	17.3409	0.87296	0.0:1.0:0.0:0.0	.	159	Q6ZMK1	CYHR1_HUMAN	Y	159;201;108;71	ENSP00000387426:C159Y;ENSP00000433769:C201Y;ENSP00000434470:C108Y	ENSP00000387426:C159Y	C	-	2	0	CYHR1	145649422	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.436000	0.80404	2.688000	0.91661	0.655000	0.94253	TGC	CYHR1	-	superfamily_TRAF-like,pfscan_Znf_TRAF	ENSG00000187954		0.652	CYHR1-001	KNOWN	basic|CCDS	protein_coding	CYHR1	HGNC	protein_coding	OTTHUMT00000382438.1	38	0.00	0	C	NM_032687		145678614	145678614	-1	no_errors	ENST00000438911	ensembl	human	known	69_37n	missense	80	44.06	63	SNP	1.000	T
DAPK1	1612	genome.wustl.edu	37	9	90252867	90252867	+	Silent	SNP	T	T	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr9:90252867T>A	ENST00000408954.3	+	4	629	c.294T>A	c.(292-294)ggT>ggA	p.G98G	DAPK1_ENST00000469640.2_Silent_p.G98G|DAPK1_ENST00000358077.5_Silent_p.G98G|DAPK1_ENST00000472284.1_Silent_p.G98G|DAPK1_ENST00000491893.1_Silent_p.G98G	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G98G(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCGTTGCAGGTGGCGAGCTGT	0.413									Chronic Lymphocytic Leukemia, Familial Clustering of																													dbGAP											2	Substitution - coding silent(2)	breast(2)											106.0	106.0	106.0					9																	90252867		2079	4243	6322	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.294T>A	9.37:g.90252867T>A			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.G98	ENST00000408954.3	37	c.294	CCDS43842.1	9																																																																																			DAPK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000196730		0.413	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	196	0.00	0	T	NM_004938		90252867	90252867	+1	no_errors	ENST00000469640	ensembl	human	known	69_37n	silent	98	24.62	32	SNP	0.994	A
EDEM2	55741	genome.wustl.edu	37	20	33711728	33711728	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr20:33711728G>T	ENST00000374492.3	-	9	1184	c.1079C>A	c.(1078-1080)aCa>aAa	p.T360K	EDEM2_ENST00000541621.1_Missense_Mutation_p.T139K|EDEM2_ENST00000540582.1_Missense_Mutation_p.T319K|EDEM2_ENST00000542871.1_Missense_Mutation_p.T84K|EDEM2_ENST00000374491.3_Missense_Mutation_p.T323K	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	360					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T360K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTCTCCACTGTGTATCCCTG	0.537																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	dbGAP											1	Substitution - Missense(1)	breast(1)											105.0	91.0	96.0					20																	33711728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1079C>A	20.37:g.33711728G>T	ENSP00000363616:p.Thr360Lys		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.T360K	ENST00000374492.3	37	c.1079	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955040	0.53293	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	L	0.54323	1.7	0.80722	D	1	B;P;P;P	0.51147	0.028;0.935;0.935;0.942	B;P;P;P	0.53401	0.039;0.713;0.653;0.725	T	0.29731	-1.0002	10	0.19147	T	0.46	-9.5818	20.3248	0.98698	0.0:0.0:1.0:0.0	.	319;139;323;360	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	K	323;360;139;84;319	ENSP00000363615:T323K;ENSP00000363616:T360K;ENSP00000443528:T139K;ENSP00000441642:T84K;ENSP00000441548:T319K	ENSP00000363615:T323K	T	-	2	0	EDEM2	33175389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.818000	0.97014	0.655000	0.94253	ACA	EDEM2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000088298		0.537	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	103	0.00	0	G	NM_018217		33711728	33711728	-1	no_errors	ENST00000374492	ensembl	human	known	69_37n	missense	144	19.44	35	SNP	1.000	T
DDX27	55661	genome.wustl.edu	37	20	47839853	47839853	+	Nonsense_Mutation	SNP	G	G	T	rs200942195		TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr20:47839853G>T	ENST00000371764.4	+	4	451	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	148	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E148*(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGAAGCAAAGGAAGGCTCTGA	0.438																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											101.0	97.0	98.0					20																	47839853		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.442G>T	20.37:g.47839853G>T	ENSP00000360828:p.Glu148*		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E148*	ENST00000371764.4	37	c.442	CCDS13416.1	20	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328898	0.24167	.	.	ENSG00000124228	ENST00000371764	.	.	.	5.95	1.42	0.22433	.	0.797225	0.12219	N	0.488561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-4.6592	3.7379	0.08518	0.0852:0.1415:0.4823:0.2909	.	.	.	.	X	148	.	ENSP00000360828:E148X	E	+	1	0	DDX27	47273260	0.019000	0.18553	0.002000	0.10522	0.040000	0.13550	1.956000	0.40382	0.348000	0.23949	-0.122000	0.15005	GAA	DDX27	-	NULL	ENSG00000124228		0.438	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	76	0.00	0	G			47839853	47839853	+1	no_errors	ENST00000371764	ensembl	human	known	69_37n	nonsense	130	35.15	71	SNP	0.004	T
BRINP3	339479	genome.wustl.edu	37	1	190068153	190068153	+	Silent	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr1:190068153C>T	ENST00000367462.3	-	8	1527	c.1296G>A	c.(1294-1296)caG>caA	p.Q432Q	BRINP3_ENST00000534846.1_Silent_p.Q330Q	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	432					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.Q432Q(1)									TGCAGACCACCTGGTCATTCG	0.602																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											57.0	44.0	48.0					1																	190068153		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1296G>A	1.37:g.190068153C>T			B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	pfam_MACPF,smart_MACPF	p.Q432	ENST00000367462.3	37	c.1296	CCDS1373.1	1																																																																																			FAM5C	-	NULL	ENSG00000162670		0.602	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	31	0.00	0	C	NM_199051		190068153	190068153	-1	no_errors	ENST00000367462	ensembl	human	known	69_37n	silent	40	11.11	5	SNP	1.000	T
FASTKD2	22868	genome.wustl.edu	37	2	207656516	207656516	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr2:207656516G>C	ENST00000236980.6	+	12	2471	c.2123G>C	c.(2122-2124)aGc>aCc	p.S708T	FASTKD2_ENST00000403094.3_Missense_Mutation_p.S708T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.S708T	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	708					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.S708T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AATGTGCAAAGCACACAATAA	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											102.0	96.0	98.0					2																	207656516		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.2123G>C	2.37:g.207656516G>C	ENSP00000236980:p.Ser708Thr		Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP	p.S708T	ENST00000236980.6	37	c.2123	CCDS2371.1	2	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236083	0.58886	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.17528	2.27;2.27;2.27	5.97	2.6	0.31112	.	1.416560	0.04077	N	0.308912	T	0.11836	0.0288	L	0.27053	0.805	0.09310	N	1	P	0.38922	0.651	B	0.33521	0.165	T	0.23868	-1.0176	10	0.66056	D	0.02	-15.7339	3.4211	0.07393	0.2341:0.0:0.5703:0.1956	.	708	Q9NYY8	FAKD2_HUMAN	T	708	ENSP00000236980:S708T;ENSP00000385990:S708T;ENSP00000384929:S708T	ENSP00000236980:S708T	S	+	2	0	FASTKD2	207364761	0.214000	0.23563	0.072000	0.20136	0.069000	0.16628	0.613000	0.24299	1.529000	0.49120	0.655000	0.94253	AGC	FASTKD2	-	NULL	ENSG00000118246		0.348	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD2	HGNC	protein_coding	OTTHUMT00000256428.2	165	0.00	0	G	NM_014929		207656516	207656516	+1	no_errors	ENST00000236980	ensembl	human	known	69_37n	missense	143	20.99	38	SNP	0.005	C
GPR108	56927	genome.wustl.edu	37	19	6731903	6731903	+	Splice_Site	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr19:6731903C>T	ENST00000264080.7	-	14	1325	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Splice_Site_p.K191K	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	433						integral component of membrane (GO:0016021)		p.K433K(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGGCCTCACCCTTCCCGTCTG	0.662																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											26.0	35.0	32.0					19																	6731903		2115	4213	6328	-	-	-	SO:0001630	splice_region_variant	0				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1300+1G>A	19.37:g.6731903C>T			B9EJD7	Silent	SNP	pfam_TM_rcpt_euk	p.K433	ENST00000264080.7	37	c.1299	CCDS42479.1	19																																																																																			GPR108	-	pfam_TM_rcpt_euk	ENSG00000125734		0.662	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR108	HGNC	protein_coding	OTTHUMT00000407508.2	24	0.00	0	C		Silent	6731903	6731903	-1	no_errors	ENST00000264080	ensembl	human	known	69_37n	silent	25	24.24	8	SNP	1.000	T
SARS2	54938	genome.wustl.edu	37	19	39409429	39409429	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr19:39409429C>T	ENST00000221431.6	-	8	943	c.784G>A	c.(784-786)Gac>Aac	p.D262N	SARS2_ENST00000600042.1_Missense_Mutation_p.D264N|SARS2_ENST00000430193.3_Missense_Mutation_p.D262N|SARS2_ENST00000448145.2_Missense_Mutation_p.D262N|SARS2_ENST00000594171.1_Missense_Mutation_p.D72N|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.R331K|SARS2_ENST00000598831.1_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	262					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)	p.D262N(1)|p.D264N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGGAGAAGGTCTGGCACCGTC	0.652																																						dbGAP											2	Substitution - Missense(2)	breast(2)											58.0	40.0	46.0					19																	39409429		2190	4270	6460	-	-	-	SO:0001583	missense	0			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.784G>A	19.37:g.39409429C>T	ENSP00000221431:p.Asp262Asn		A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	pirsf_Ser-tRNA-synth_IIa,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-synth_IIa	p.D264N	ENST00000221431.6	37	c.790	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618768	0.87460	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	T;T	0.67523	-0.27;-0.27	4.03	4.03	0.46877	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.81927	0.4926	M	0.83012	2.62	.	.	.	D;D;D;D	0.89917	1.0;1.0;0.992;0.997	D;D;D;D	0.97110	1.0;1.0;0.951;0.988	D	0.85222	0.1027	9	0.42905	T	0.14	.	15.1145	0.72392	0.0:1.0:0.0:0.0	.	262;264;262;262	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	N	264;262;262	ENSP00000221431:D262N;ENSP00000399330:D262N	ENSP00000221431:D262N	D	-	1	0	FBXO17	44101269	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.442000	0.73443	2.084000	0.62774	0.305000	0.20034	GAC	FBXO17	-	pirsf_Ser-tRNA-synth_IIa,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-synth_IIa	ENSG00000104835		0.652	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO17	HGNC	protein_coding	OTTHUMT00000463139.1	42	0.00	0	C	NM_017827		39409429	39409429	-1	no_errors	ENST00000430193	ensembl	human	known	69_37n	missense	17	62.22	28	SNP	1.000	T
H6PD	9563	genome.wustl.edu	37	1	9322166	9322166	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr1:9322166A>C	ENST00000377403.2	+	4	1096	c.794A>C	c.(793-795)cAg>cCg	p.Q265P	H6PD_ENST00000602477.1_Missense_Mutation_p.Q276P	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	265	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)	p.Q265P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GACGTCCTCCAGAACCATCTG	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	70.0	72.0					1																	9322166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.794A>C	1.37:g.9322166A>C	ENSP00000366620:p.Gln265Pro		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.Q265P	ENST00000377403.2	37	c.794	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242297	0.79912	.	.	ENSG00000049239	ENST00000377403	D	0.99898	-7.61	5.25	5.25	0.73442	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96076	0.9050	10	0.72032	D	0.01	-35.4367	14.3339	0.66576	1.0:0.0:0.0:0.0	.	265	O95479	G6PE_HUMAN	P	265	ENSP00000366620:Q265P	ENSP00000366620:Q265P	Q	+	2	0	H6PD	9244753	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	8.895000	0.92512	1.991000	0.58162	0.459000	0.35465	CAG	H6PD	-	pfam_G6P_DH_C,prints_G6P_DH	ENSG00000049239		0.597	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	HGNC	protein_coding	OTTHUMT00000004928.2	55	0.00	0	A	NM_004285		9322166	9322166	+1	no_errors	ENST00000377403	ensembl	human	known	69_37n	missense	9	65.52	19	SNP	1.000	C
HS3ST5	222537	genome.wustl.edu	37	6	114378677	114378677	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr6:114378677G>A	ENST00000312719.5	-	5	1973	c.785C>T	c.(784-786)cCt>cTt	p.P262L	HS3ST5_ENST00000411826.1_Missense_Mutation_p.P262L|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	262					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.P262H(1)|p.P262L(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TTCTGGCAGAGGTTCCGTGAT	0.433																																						dbGAP											2	Substitution - Missense(2)	lung(1)|breast(1)											121.0	120.0	120.0					6																	114378677		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.785C>T	6.37:g.114378677G>A	ENSP00000427888:p.Pro262Leu		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.P262L	ENST00000312719.5	37	c.785	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623483	0.66901	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.63580	-0.05;-0.05	5.93	5.93	0.95920	Sulfotransferase domain (1);	0.052569	0.85682	N	0.000000	D	0.84037	0.5384	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86950	0.2085	10	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	262	Q8IZT8	HS3S5_HUMAN	L	262	ENSP00000427888:P262L;ENSP00000440332:P262L	ENSP00000427888:P262L	P	-	2	0	HS3ST5	114485370	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	CCT	HS3ST5	-	pfam_Sulfotransferase_dom	ENSG00000249853		0.433	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	258	0.00	0	G	NM_153612		114378677	114378677	-1	no_errors	ENST00000312719	ensembl	human	known	69_37n	missense	179	31.15	81	SNP	1.000	A
IGHG3	3502	genome.wustl.edu	37	14	106237474	106237474	+	RNA	SNP	G	G	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr14:106237474G>C	ENST00000390551.2	-	0	268							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGGTGTTGCTGGGCTTGT	0.627																																						dbGAP											0													192.0	166.0	175.0					14																	106237474		2113	4228	6341	-	-	-			0			M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237474G>C			A2NU35	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.A90G	ENST00000390551.2	37	c.269		14																																																																																			IGHG3	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211897		0.627	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHG3	HGNC	IG_C_gene	OTTHUMT00000326654.1	347	0.00	0	G	NG_001019		106237474	106237474	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390551	ensembl	human	known	69_37n	missense	277	11.78	37	SNP	0.199	C
KIAA0195	9772	genome.wustl.edu	37	17	73490986	73490987	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr17:73490986_73490987insA	ENST00000314256.7	+	20	2993_2994	c.2599_2600insA	c.(2599-2601)gaafs	p.E867fs	KIAA0195_ENST00000579208.1_Frame_Shift_Ins_p.E518fs|KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.E877fs|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	867						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTGTTTGCAGAAAAAATGGGC	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2605dupA	17.37:g.73490992_73490992dupA	ENSP00000313885:p.Glu867fs		O75536|Q86XF1	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_cation-transptr_C	p.M869fs	ENST00000314256.7	37	c.2599_2600	CCDS32732.1	17																																																																																			KIAA0195	-	NULL	ENSG00000177728		0.589	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	27	0.00	0	-	NM_014738		73490986	73490987	+1	no_errors	ENST00000314256	ensembl	human	known	69_37n	frame_shift_ins	14	56.25	18	INS	1.000:1.000	A
KIAA0232	9778	genome.wustl.edu	37	4	6865167	6865167	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr4:6865167G>T	ENST00000307659.5	+	7	3513	c.3058G>T	c.(3058-3060)Gac>Tac	p.D1020Y	KIAA0232_ENST00000425103.1_Missense_Mutation_p.D1020Y	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1020							ATP binding (GO:0005524)	p.D1020Y(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CTTCCATGAAGACTTACTAGG	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											75.0	69.0	71.0					4																	6865167		1834	4085	5919	-	-	-	SO:0001583	missense	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3058G>T	4.37:g.6865167G>T	ENSP00000303928:p.Asp1020Tyr		A7E2D2	Missense_Mutation	SNP	NULL	p.D1020Y	ENST00000307659.5	37	c.3058	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721748	0.48728	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	L	0.56769	1.78	0.58432	D	0.999998	D	0.89917	1.0	D	0.74348	0.983	T	0.71517	-0.4569	9	0.87932	D	0	-23.144	9.9529	0.41649	0.1545:0.0:0.8455:0.0	.	1020	Q92628	K0232_HUMAN	Y	1020	.	ENSP00000303928:D1020Y	D	+	1	0	KIAA0232	6916068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.155000	0.71833	1.476000	0.48215	0.655000	0.94253	GAC	KIAA0232	-	NULL	ENSG00000170871		0.393	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	106	0.00	0	G	NM_014743		6865167	6865167	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	missense	63	26.74	23	SNP	1.000	T
KRT86	3892	genome.wustl.edu	37	12	52700002	52700002	+	Silent	SNP	C	C	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr12:52700002C>G	ENST00000423955.2	+	9	1363	c.1185C>G	c.(1183-1185)tcC>tcG	p.S395S	RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000544024.1_Silent_p.S395S|KRT86_ENST00000293525.5_Silent_p.S395S			O43790	KRT86_HUMAN	keratin 86	395	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S395S(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGATGAACTCCAAGCTGGGCC	0.637											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	breast(1)											77.0	76.0	77.0					12																	52700002		2203	4295	6498	-	-	-	SO:0001819	synonymous_variant	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1185C>G	12.37:g.52700002C>G		987	P78387	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S395	ENST00000423955.2	37	c.1185	CCDS41785.1	12																																																																																			AC021066.1	-	pfam_F	ENSG00000170442		0.637	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000404911.1	87	0.00	0	C	NM_002284		52700002	52700002	+1	no_errors	ENST00000293525	ensembl	human	known	69_37n	silent	69	23.33	21	SNP	1.000	G
LCP1	3936	genome.wustl.edu	37	13	46701847	46701847	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr13:46701847G>A	ENST00000398576.2	-	19	2151	c.1763C>T	c.(1762-1764)tCt>tTt	p.S588F	LCP1_ENST00000435666.2_Missense_Mutation_p.S157F|LCP1_ENST00000323076.2_Missense_Mutation_p.S588F			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	588	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.S588F(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGGCCATAGAGATGGCATA	0.493			T	BCL6	NHL																																	dbGAP		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	1	Substitution - Missense(1)	breast(1)											143.0	138.0	139.0					13																	46701847		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1763C>T	13.37:g.46701847G>A	ENSP00000381581:p.Ser588Phe		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.S588F	ENST00000398576.2	37	c.1763	CCDS9403.1	13	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918251	0.92249	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.95342	-3.68;-3.68;-3.68	5.54	5.54	0.83059	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.978;1.0	D	0.98942	1.0791	10	0.87932	D	0	-14.243	18.8301	0.92135	0.0:0.0:1.0:0.0	.	157;588	B4DUA0;P13796	.;PLSL_HUMAN	F	588;588;157	ENSP00000315757:S588F;ENSP00000381581:S588F;ENSP00000405134:S157F	ENSP00000315757:S588F	S	-	2	0	LCP1	45599848	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.813000	0.99286	2.764000	0.94973	0.655000	0.94253	TCT	LCP1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000136167		0.493	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP1	HGNC	protein_coding	OTTHUMT00000044800.3	135	0.00	0	G	NM_002298		46701847	46701847	-1	no_errors	ENST00000323076	ensembl	human	known	69_37n	missense	96	32.39	46	SNP	1.000	A
LRMP	4033	genome.wustl.edu	37	12	25254214	25254214	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr12:25254214G>T	ENST00000354454.3	+	15	1673	c.844G>T	c.(844-846)Gtt>Ttt	p.V282F	LRMP_ENST00000548766.1_Missense_Mutation_p.V282F|RP11-713N11.4_ENST00000555862.1_RNA|LRMP_ENST00000547044.1_Missense_Mutation_p.V282F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	338					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V282F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ACTGAAACAGGTTCTTCTGCA	0.363																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	94.0	94.0					12																	25254214		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.844G>T	12.37:g.25254214G>T	ENSP00000346442:p.Val282Phe		A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	pfam_MRVI1	p.V282F	ENST00000354454.3	37	c.844	CCDS8701.1	12	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382386	0.42207	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.51	4.56	0.56223	.	0.422527	0.26210	N	0.025688	T	0.34337	0.0894	L	0.56769	1.78	0.26791	N	0.969402	D	0.63046	0.992	D	0.63703	0.917	T	0.03662	-1.1015	10	0.51188	T	0.08	-14.6426	13.6642	0.62384	0.0:0.2731:0.7269:0.0	.	338	Q12912	LRMP_HUMAN	F	282;229;282;282	ENSP00000346442:V282F;ENSP00000444056:V229F;ENSP00000446496:V282F;ENSP00000450246:V282F	ENSP00000346442:V282F	V	+	1	0	LRMP	25145481	1.000000	0.71417	0.991000	0.47740	0.332000	0.28634	2.327000	0.43858	2.748000	0.94277	0.462000	0.41574	GTT	LRMP	-	pfam_MRVI1	ENSG00000118308		0.363	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRMP	HGNC	protein_coding	OTTHUMT00000407870.1	105	0.00	0	G	NM_006152		25254214	25254214	+1	no_errors	ENST00000354454	ensembl	human	known	69_37n	missense	145	18.08	32	SNP	0.986	T
LRIG3	121227	genome.wustl.edu	37	12	59271267	59271267	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr12:59271267G>C	ENST00000320743.3	-	15	2737	c.2451C>G	c.(2449-2451)tgC>tgG	p.C817W	LRIG3_ENST00000379141.4_Missense_Mutation_p.C757W	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	817					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C817W(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCACCACACAGCAAACCACGG	0.542			T	ROS1	NSCLC																																	dbGAP		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	1	Substitution - Missense(1)	breast(1)											233.0	132.0	166.0					12																	59271267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2451C>G	12.37:g.59271267G>C	ENSP00000326759:p.Cys817Trp		Q6UXL7|Q8NC72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.C817W	ENST00000320743.3	37	c.2451	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526795	0.85706	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.63913	-0.02;-0.07	5.59	5.59	0.84812	.	0.000000	0.40469	N	0.001100	T	0.80778	0.4688	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.80002	-0.1565	9	.	.	.	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	757;817	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	W	757;817	ENSP00000368436:C757W;ENSP00000326759:C817W	.	C	-	3	2	LRIG3	57557534	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.634000	0.74290	2.783000	0.95769	0.655000	0.94253	TGC	LRIG3	-	NULL	ENSG00000139263		0.542	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	113	0.00	0	G	NM_153377		59271267	59271267	-1	no_errors	ENST00000320743	ensembl	human	known	69_37n	missense	116	33.33	58	SNP	1.000	C
MUC16	94025	genome.wustl.edu	37	19	9057075	9057075	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr19:9057075G>C	ENST00000397910.4	-	3	30574	c.30371C>G	c.(30370-30372)tCg>tGg	p.S10124W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10126	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S10124W(1)|p.S5757W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGGCTCCGAGTGGATTGA	0.453																																						dbGAP											2	Substitution - Missense(2)	breast(2)											71.0	70.0	70.0					19																	9057075		1936	4136	6072	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30371C>G	19.37:g.9057075G>C	ENSP00000381008:p.Ser10124Trp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S10124W	ENST00000397910.4	37	c.30371	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.180	-0.387709	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	2.85	-1.01	0.10169	.	.	.	.	.	T	0.20941	0.0504	L	0.34521	1.04	.	.	.	B	0.27013	0.166	B	0.32149	0.141	T	0.31166	-0.9953	8	0.87932	D	0	.	3.4827	0.07609	0.1121:0.1598:0.5657:0.1624	.	10124	B5ME49	.	W	10124	ENSP00000381008:S10124W	ENSP00000381008:S10124W	S	-	2	0	MUC16	8918075	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.100000	0.15231	-0.379000	0.07906	-1.119000	0.02030	TCG	MUC16	-	NULL	ENSG00000181143		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	127	0.00	0	G	NM_024690		9057075	9057075	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	59	35.16	32	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9064046	9064046	+	Silent	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr19:9064046G>A	ENST00000397910.4	-	3	23603	c.23400C>T	c.(23398-23400)acC>acT	p.T7800T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7802	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T7800T(2)|p.T3433T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATGGTGGAGGTGGTACACA	0.507																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											258.0	249.0	252.0					19																	9064046		2121	4230	6351	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23400C>T	19.37:g.9064046G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T7800	ENST00000397910.4	37	c.23400	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	290	0.00	0	G	NM_024690		9064046	9064046	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	142	26.04	50	SNP	0.001	A
MXD1	4084	genome.wustl.edu	37	2	70165429	70165429	+	3'UTR	SNP	T	T	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr2:70165429T>G	ENST00000264444.2	+	0	939				MXD1_ENST00000540449.1_3'UTR|MXD1_ENST00000465446.1_3'UTR	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1						cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GAGTGGGCACTGCGGCTGTCT	0.527																																						dbGAP											0													67.0	66.0	66.0					2																	70165429		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.*13T>G	2.37:g.70165429T>G			B2R6V8|B7ZLI6|D6W5G2|Q6FI41	RNA	SNP	-	NULL	ENST00000264444.2	37	NULL	CCDS1896.1	2																																																																																			MXD1	-	-	ENSG00000059728		0.527	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXD1	HGNC	protein_coding	OTTHUMT00000251845.3	60	0.00	0	T	NM_002357		70165429	70165429	+1	no_errors	ENST00000465446	ensembl	human	putative	69_37n	rna	57	17.39	12	SNP	0.000	G
MYO7B	4648	genome.wustl.edu	37	2	128386057	128386057	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr2:128386057G>T	ENST00000409816.2	+	32	4525	c.4493G>T	c.(4492-4494)gGc>gTc	p.G1498V	RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000428314.1_Missense_Mutation_p.G1498V|MYO7B_ENST00000389524.4_Missense_Mutation_p.G1498V|MYO7B_ENST00000409090.1_Missense_Mutation_p.G351V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1498	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G1498V(1)|p.G1741V(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTCCTGGAGGGCCTGAAGGAG	0.657																																						dbGAP											2	Substitution - Missense(2)	breast(2)											22.0	25.0	24.0					2																	128386057		2077	4159	6236	-	-	-	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4493G>T	2.37:g.128386057G>T	ENSP00000386461:p.Gly1498Val		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.G1498V	ENST00000409816.2	37	c.4493	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	g	17.46	3.395522	0.62066	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.03	5.03	0.67393	FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.83043	-0.0156	10	0.87932	D	0	.	9.2785	0.37714	0.1585:0.0:0.8415:0.0	.	1498	Q6PIF6	MYO7B_HUMAN	V	1498;1498;593;1498;351	ENSP00000374175:G1498V;ENSP00000415090:G1498V;ENSP00000386461:G1498V;ENSP00000386850:G351V	ENSP00000272666:G593V	G	+	2	0	MYO7B	128102527	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	6.287000	0.72671	2.608000	0.88229	0.455000	0.32223	GGC	MYO7B	-	pfscan_FERM_domain	ENSG00000169994		0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	25	0.00	0	G	XM_291001		128386057	128386057	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	T
NCKAP1L	3071	genome.wustl.edu	37	12	54917613	54917613	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr12:54917613G>A	ENST00000293373.6	+	20	2108	c.2029G>A	c.(2029-2031)Gac>Aac	p.D677N	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.D627N	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	677					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.D677N(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCTAGCATGGACAAGCTACA	0.458																																						dbGAP											1	Substitution - Missense(1)	breast(1)											145.0	121.0	129.0					12																	54917613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2029G>A	12.37:g.54917613G>A	ENSP00000293373:p.Asp677Asn		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.D677N	ENST00000293373.6	37	c.2029	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.158288	0.94686	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.38722	1.12;1.12	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68187	-0.5475	10	0.46703	T	0.11	-24.8144	16.1086	0.81244	0.0:0.0:1.0:0.0	.	677	P55160	NCKPL_HUMAN	N	677;627	ENSP00000293373:D677N;ENSP00000445596:D627N	ENSP00000293373:D677N	D	+	1	0	NCKAP1L	53203880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.008000	0.93601	2.565000	0.86533	0.655000	0.94253	GAC	NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.458	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	142	0.00	0	G	NM_005337		54917613	54917613	+1	no_errors	ENST00000293373	ensembl	human	known	69_37n	missense	106	20.74	28	SNP	1.000	A
NCSTN	23385	genome.wustl.edu	37	1	160327968	160327968	+	Silent	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr1:160327968C>T	ENST00000294785.5	+	17	2162	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	NCSTN_ENST00000535857.1_Silent_p.I541I|NCSTN_ENST00000368063.1_Silent_p.I659I|NCSTN_ENST00000368065.4_Silent_p.I421I|NCSTN_ENST00000392212.4_Silent_p.I659I	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	679					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.I679I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTTCGGCATCCTCATCTTCT	0.527																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											238.0	194.0	209.0					1																	160327968		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.2037C>T	1.37:g.160327968C>T			Q5T207|Q5T208|Q86VV5	Silent	SNP	pfam_Nicastrin	p.I679	ENST00000294785.5	37	c.2037	CCDS1203.1	1																																																																																			NCSTN	-	NULL	ENSG00000162736		0.527	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	155	0.00	0	C	NM_015331		160327968	160327968	+1	no_errors	ENST00000294785	ensembl	human	known	69_37n	silent	106	16.54	21	SNP	1.000	T
NFU1	27247	genome.wustl.edu	37	2	69642366	69642366	+	Silent	SNP	A	A	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr2:69642366A>G	ENST00000410022.2	-	5	640	c.435T>C	c.(433-435)ttT>ttC	p.F145F	NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000394305.1_Silent_p.F4F|NFU1_ENST00000462320.1_Silent_p.F4F|NFU1_ENST00000303698.3_Silent_p.F121F	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	145					iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)	p.F145F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						AGCCAGATGCAAAGAAGTCCA	0.338																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											92.0	90.0	91.0					2																	69642366		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.435T>C	2.37:g.69642366A>G			B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Silent	SNP	pfam_NIF_FeS_clus_asmbl_NifU-like_N,pfam_NIF_FeS_clus_asmbl_NifU_C,superfamily_NIF_FeS_clus_asmbl_NifU-like_N,smart_NIF_FeS_clus_asmbl_NifU-like_N,pirsf_HIRA-interacting_protein_5	p.F145	ENST00000410022.2	37	c.435	CCDS33217.1	2																																																																																			NFU1	-	pfam_NIF_FeS_clus_asmbl_NifU-like_N,superfamily_NIF_FeS_clus_asmbl_NifU-like_N,smart_NIF_FeS_clus_asmbl_NifU-like_N,pirsf_HIRA-interacting_protein_5	ENSG00000169599		0.338	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFU1	HGNC	protein_coding	OTTHUMT00000327279.3	170	0.00	0	A	NM_015700		69642366	69642366	-1	no_errors	ENST00000410022	ensembl	human	known	69_37n	silent	205	15.29	37	SNP	1.000	G
NRP1	8829	genome.wustl.edu	37	10	33502337	33502337	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr10:33502337C>T	ENST00000265371.4	-	10	2116	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	NRP1_ENST00000374816.3_Missense_Mutation_p.D531N|NRP1_ENST00000374822.4_Missense_Mutation_p.D531N|NRP1_ENST00000374821.5_Missense_Mutation_p.D531N|NRP1_ENST00000374823.5_Missense_Mutation_p.D531N|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000432372.2_Missense_Mutation_p.D531N|NRP1_ENST00000395995.1_Missense_Mutation_p.D531N|NRP1_ENST00000374875.1_Missense_Mutation_p.D350N|NRP1_ENST00000374867.2_Missense_Mutation_p.D531N			O14786	NRP1_HUMAN	neuropilin 1	531	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D531N(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGCTGTCATCCATGATCATC	0.537																																					Melanoma(104;886 1489 44640 45944 51153)	dbGAP											1	Substitution - Missense(1)	breast(1)											208.0	180.0	189.0					10																	33502337		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1591G>A	10.37:g.33502337C>T	ENSP00000265371:p.Asp531Asn		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.D531N	ENST00000265371.4	37	c.1591	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.754660	0.96890	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374814;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26	5.95	5.95	0.96441	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.040549	0.85682	D	0.000000	D	0.98927	0.9636	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.71674	0.993;0.986;0.988;0.975;0.997;0.998;0.988;0.996;0.985	D;P;D;D;D;D;D;D;P	0.81914	0.949;0.892;0.955;0.916;0.992;0.995;0.919;0.972;0.774	D	0.99902	1.1165	10	0.87932	D	0	-29.5643	20.3697	0.98890	0.0:1.0:0.0:0.0	.	531;531;531;531;531;531;531;350;531	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	N	531;350;531;531;2;531;531;531;531;204	ENSP00000265371:D531N;ENSP00000364009:D350N;ENSP00000364001:D531N;ENSP00000379317:D531N;ENSP00000363955:D531N;ENSP00000363954:D531N;ENSP00000363956:D531N;ENSP00000363949:D531N;ENSP00000408911:D204N	ENSP00000265371:D531N	D	-	1	0	NRP1	33542343	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	3.967000	0.56802	2.811000	0.96726	0.655000	0.94253	GAT	NRP1	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000099250		0.537	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	109	0.00	0	C			33502337	33502337	-1	no_errors	ENST00000265371	ensembl	human	known	69_37n	missense	70	27.55	27	SNP	1.000	T
NRP1	8829	genome.wustl.edu	37	10	33545247	33545247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr10:33545247C>A	ENST00000265371.4	-	6	1336	c.811G>T	c.(811-813)Gaa>Taa	p.E271*	NRP1_ENST00000374816.3_Nonsense_Mutation_p.E271*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.E271*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.E271*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.E271*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.E271*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.E271*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.E90*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.E271*			O14786	NRP1_HUMAN	neuropilin 1	271					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E271*(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CACTGACCTTCTGAGACACTG	0.438																																					Melanoma(104;886 1489 44640 45944 51153)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											119.0	115.0	116.0					10																	33545247		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.811G>T	10.37:g.33545247C>A	ENSP00000265371:p.Glu271*		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Nonsense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.E271*	ENST00000265371.4	37	c.811	CCDS7177.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.511169|6.511169	0.97624|0.97624	.|.	.|.	ENSG00000099250|ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818|ENST00000455749	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.044716|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80082	.|0.4558	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77584	.|-0.2533	.|3	0.49607|.	T|.	0.09|.	.|.	20.1731|20.1731	0.98165|0.98165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	271;90;271;271;271;271;271;271;90|71	.|.	ENSP00000265371:E271X|.	E|R	-|-	1|2	0|0	NRP1|NRP1	33585253|33585253	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.832000|0.832000	0.47134|0.47134	7.788000|7.788000	0.85771|0.85771	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GAA|AGA	NRP1	-	pirsf_Neuropilin	ENSG00000099250		0.438	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	92	0.00	0	C			33545247	33545247	-1	no_errors	ENST00000265371	ensembl	human	known	69_37n	nonsense	81	30.77	36	SNP	1.000	A
NT5E	4907	genome.wustl.edu	37	6	86201757	86201757	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr6:86201757C>G	ENST00000257770.3	+	8	1472	c.1423C>G	c.(1423-1425)Ctt>Gtt	p.L475V	NT5E_ENST00000369651.3_Missense_Mutation_p.L425V	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	475					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.L475V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	ATTAGATGTTCTTTGCACCAA	0.438																																					Melanoma(140;797 1765 2035 2752 18208)	dbGAP											1	Substitution - Missense(1)	breast(1)											173.0	169.0	170.0					6																	86201757		2203	4300	6503	-	-	-	SO:0001583	missense	0			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1423C>G	6.37:g.86201757C>G	ENSP00000257770:p.Leu475Val		B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase	p.L475V	ENST00000257770.3	37	c.1423	CCDS5002.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.295|5.295	0.239883|0.239883	0.10023|0.10023	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334|ENST00000257770;ENST00000369651	.|T;T	.|0.56444	.|0.46;0.46	5.66|5.66	5.66|5.66	0.87406|0.87406	.|5&apos (3);-Nucleotidase, C-terminal (3);	.|0.105878	.|0.64402	.|D	.|0.000003	T|T	0.26991|0.26991	0.0661|0.0661	L|L	0.41356|0.41356	1.27|1.27	0.52501|0.52501	D|D	0.999954|0.999954	.|B;B	.|0.27951	.|0.195;0.043	.|B;B	.|0.25987	.|0.065;0.065	T|T	0.06625|0.06625	-1.0816|-1.0816	5|10	.|0.12103	.|T	.|0.63	-16.2165|-16.2165	14.9098|14.9098	0.70746|0.70746	0.1432:0.8568:0.0:0.0|0.1432:0.8568:0.0:0.0	.|.	.|425;475	.|B3KQI8;P21589	.|.;5NTD_HUMAN	L|V	189|475;425	.|ENSP00000257770:L475V;ENSP00000358665:L425V	.|ENSP00000257770:L475V	F|L	+|+	3|1	2|0	NT5E|NT5E	86258476|86258476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.217000|0.217000	0.24651|0.24651	3.497000|3.497000	0.53295|0.53295	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	TTC|CTT	NT5E	-	pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C	ENSG00000135318		0.438	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5E	HGNC	protein_coding	OTTHUMT00000041388.1	180	0.00	0	C			86201757	86201757	+1	no_errors	ENST00000257770	ensembl	human	known	69_37n	missense	115	26.28	41	SNP	0.999	G
PCLO	27445	genome.wustl.edu	37	7	82582602	82582602	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr7:82582602G>A	ENST00000333891.9	-	5	8004	c.7667C>T	c.(7666-7668)tCc>tTc	p.S2556F	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.S2556F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S2556F(3)|p.S2487F(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGGTAGGGGAAGGCAATTT	0.398																																						dbGAP											5	Substitution - Missense(5)	breast(3)|skin(2)											98.0	97.0	97.0					7																	82582602		1874	4102	5976	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7667C>T	7.37:g.82582602G>A	ENSP00000334319:p.Ser2556Phe			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S2556F	ENST00000333891.9	37	c.7667	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556827	0.27827	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.25749	1.78;1.8	4.66	4.66	0.58398	.	.	.	.	.	T	0.48960	0.1529	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53049	-0.8493	9	0.87932	D	0	.	17.5217	0.87789	0.0:0.0:1.0:0.0	.	2556;2556	Q9Y6V0-5;Q9Y6V0-6	.;.	F	2487;2556;2556	ENSP00000334319:S2556F;ENSP00000388393:S2556F	ENSP00000334319:S2556F	S	-	2	0	PCLO	82420538	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.194000	0.94962	2.147000	0.66899	0.484000	0.47621	TCC	PCLO	-	NULL	ENSG00000186472		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	122	0.00	0	G	NM_014510		82582602	82582602	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	55	47.66	51	SNP	1.000	A
PDE6C	5146	genome.wustl.edu	37	10	95422824	95422824	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr10:95422824A>T	ENST00000371447.3	+	21	2545	c.2407A>T	c.(2407-2409)Agt>Tgt	p.S803C	PDE6C_ENST00000475427.2_Intron	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	803					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.S803C(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	ACCTATGCTGAGTGGTCTTCA	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											82.0	85.0	84.0					10																	95422824		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.2407A>T	10.37:g.95422824A>T	ENSP00000360502:p.Ser803Cys		A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S803C	ENST00000371447.3	37	c.2407	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878067	0.72294	.	.	ENSG00000095464	ENST00000371447	D	0.81659	-1.52	5.02	2.68	0.31781	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.229469	0.50627	D	0.000119	T	0.71804	0.3383	L	0.27053	0.805	0.24535	N	0.994091	P	0.49783	0.928	P	0.49752	0.621	T	0.64123	-0.6481	10	0.87932	D	0	.	4.6607	0.12641	0.5823:0.0:0.4177:0.0	.	803	P51160	PDE6C_HUMAN	C	803	ENSP00000360502:S803C	ENSP00000360502:S803C	S	+	1	0	PDE6C	95412814	0.950000	0.32346	0.985000	0.45067	0.890000	0.51754	2.850000	0.48294	0.948000	0.37687	0.533000	0.62120	AGT	PDE6C	-	pfam_PDEase_catalytic_dom	ENSG00000095464		0.373	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	154	0.00	0	A	NM_006204		95422824	95422824	+1	no_errors	ENST00000371447	ensembl	human	known	69_37n	missense	245	17.23	51	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	19	Substitution - Missense(16)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	endometrium(8)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)											137.0	130.0	132.0					3																	178928079		1829	4090	5919	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1357G>A	3.37:g.178928079G>A	ENSP00000263967:p.Glu453Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E453K	ENST00000263967.3	37	c.1357	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.164616	0.94727	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.68317	2.08	0.80722	D	1	P	0.50528	0.936	P	0.50970	0.655	T	0.72500	-0.4274	10	0.20046	T	0.44	-22.2286	19.6973	0.96031	0.0:0.0:1.0:0.0	.	453	P42336	PK3CA_HUMAN	K	453	ENSP00000263967:E453K	ENSP00000263967:E453K	E	+	1	0	PIK3CA	180410773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GAA	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000121879		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	192	0.00	0	G			178928079	178928079	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	205	34.50	108	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	139	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	135	34.78	72	SNP	1.000	A
PITRM1	10531	genome.wustl.edu	37	10	3181215	3181215	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr10:3181215T>A	ENST00000224949.4	-	25	2832	c.2798A>T	c.(2797-2799)cAg>cTg	p.Q933L	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.Q835L|PITRM1_ENST00000380994.1_Missense_Mutation_p.Q491L|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.Q934L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	933					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q934L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CCCAAAAGACTGGAGCGTCTC	0.458																																						dbGAP											1	Substitution - Missense(1)	breast(1)											142.0	141.0	141.0					10																	3181215		1862	4093	5955	-	-	-	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2798A>T	10.37:g.3181215T>A	ENSP00000224949:p.Gln933Leu		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	p.Q934L	ENST00000224949.4	37	c.2801	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	t	9.112	1.006772	0.19199	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0	5.54	5.54	0.83059	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.303719	0.35870	N	0.002933	T	0.13372	0.0324	M	0.61703	1.905	0.09310	N	1	B;B;B;B;B;B	0.32939	0.078;0.271;0.166;0.166;0.391;0.166	B;B;B;B;B;B	0.35770	0.045;0.21;0.21;0.21;0.196;0.21	T	0.24657	-1.0154	10	0.59425	D	0.04	-19.6971	6.9641	0.24613	0.0:0.0751:0.1508:0.7741	.	926;835;934;933;868;926	E9PDX6;E7ES23;C9JSL2;Q5JRX3;E9PDX7;B4DH07	.;.;.;PREP_HUMAN;.;.	L	933;926;934;491;835;114	ENSP00000224949:Q933L;ENSP00000370377:Q934L;ENSP00000370382:Q491L;ENSP00000401201:Q835L;ENSP00000399307:Q114L	ENSP00000224949:Q933L	Q	-	2	0	PITRM1	3171215	0.924000	0.31332	0.040000	0.18447	0.002000	0.02628	3.809000	0.55606	2.100000	0.63781	0.379000	0.24179	CAG	PITRM1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	ENSG00000107959		0.458	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	145	0.00	0	T			3181215	3181215	-1	no_errors	ENST00000380989	ensembl	human	known	69_37n	missense	50	61.54	80	SNP	0.120	A
PRAMEF2	65122	genome.wustl.edu	37	1	12921147	12921147	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr1:12921147T>C	ENST00000240189.2	+	4	1025	c.938T>C	c.(937-939)cTc>cCc	p.L313P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	313					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L313P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGAAGTGTCTCTCCCAGTTC	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											139.0	141.0	141.0					1																	12921147		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.938T>C	1.37:g.12921147T>C	ENSP00000240189:p.Leu313Pro			Missense_Mutation	SNP	NULL	p.L313P	ENST00000240189.2	37	c.938	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293426	0.23564	.	.	ENSG00000120952	ENST00000240189	T	0.01887	4.58	0.824	0.824	0.18818	.	0.000000	0.64402	D	0.000013	T	0.10551	0.0258	M	0.88775	2.98	0.19300	N	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.04579	-1.0941	10	0.87932	D	0	.	3.9396	0.09321	0.0:0.0:0.0:1.0	.	313	O60811	PRAM2_HUMAN	P	313	ENSP00000240189:L313P	ENSP00000240189:L313P	L	+	2	0	PRAMEF2	12843734	0.124000	0.22315	0.025000	0.17156	0.095000	0.18619	1.815000	0.38981	0.624000	0.30286	0.145000	0.16022	CTC	PRAMEF2	-	NULL	ENSG00000120952		0.493	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	152	0.00	0	T	NM_023014		12921147	12921147	+1	no_errors	ENST00000240189	ensembl	human	known	69_37n	missense	126	21.74	35	SNP	0.029	C
RBBP6	5930	genome.wustl.edu	37	16	24582488	24582488	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr16:24582488T>G	ENST00000319715.4	+	18	4533	c.4101T>G	c.(4099-4101)agT>agG	p.S1367R	RBBP6_ENST00000348022.2_Missense_Mutation_p.S1333R|RBBP6_ENST00000381039.3_Missense_Mutation_p.S527R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1367					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1367R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGAAAGAAAGTGAGCCATCCG	0.358																																						dbGAP											1	Substitution - Missense(1)	breast(1)											40.0	40.0	40.0					16																	24582488		2195	4300	6495	-	-	-	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4101T>G	16.37:g.24582488T>G	ENSP00000317872:p.Ser1367Arg		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.S1367R	ENST00000319715.4	37	c.4101	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	T	9.757	1.169141	0.21621	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.19938	2.11;2.4;2.38	5.38	1.57	0.23409	.	0.401311	0.25338	N	0.031394	T	0.11239	0.0274	N	0.24115	0.695	0.09310	N	0.999996	B;B;B	0.16603	0.018;0.018;0.01	B;B;B	0.23419	0.046;0.046;0.021	T	0.22138	-1.0225	10	0.62326	D	0.03	-3.1463	1.0785	0.01638	0.2151:0.2978:0.1155:0.3716	.	527;1333;1367	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	R	527;1367;1333	ENSP00000370427:S527R;ENSP00000317872:S1367R;ENSP00000316291:S1333R	ENSP00000317872:S1367R	S	+	3	2	RBBP6	24489989	0.896000	0.30565	0.864000	0.33941	0.598000	0.36846	0.094000	0.15107	0.351000	0.24027	0.460000	0.39030	AGT	RBBP6	-	NULL	ENSG00000122257		0.358	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	32	0.00	0	T	NM_006910		24582488	24582488	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	missense	63	32.26	30	SNP	0.047	G
RGS20	8601	genome.wustl.edu	37	8	54866817	54866817	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr8:54866817G>C	ENST00000297313.3	+	5	1017	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	RGS20_ENST00000344277.6_Missense_Mutation_p.E194Q|RGS20_ENST00000522225.1_Missense_Mutation_p.E43Q|RGS20_ENST00000276500.4_Missense_Mutation_p.E162Q|RGS20_ENST00000517405.1_3'UTR	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	309	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E309Q(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CATTATTGAAGAGAAAGCAAG	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											77.0	76.0	76.0					8																	54866817		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.925G>C	8.37:g.54866817G>C	ENSP00000297313:p.Glu309Gln		Q96BG9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.E309Q	ENST00000297313.3	37	c.925	CCDS6155.1	8	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652566	0.88056	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.01887	4.58;4.58;4.58;4.58	4.8	4.8	0.61643	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	M	0.62016	1.91	0.80722	D	1	B;B;P;P;P	0.38250	0.139;0.451;0.624;0.624;0.488	B;P;P;P;B	0.53450	0.242;0.456;0.61;0.726;0.439	T	0.04811	-1.0925	10	0.46703	T	0.11	.	18.247	0.89989	0.0:0.0:1.0:0.0	.	73;101;162;194;309	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	Q	309;194;43;162	ENSP00000297313:E309Q;ENSP00000344630:E194Q;ENSP00000430627:E43Q;ENSP00000276500:E162Q	ENSP00000276500:E162Q	E	+	1	0	RGS20	55029370	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	9.813000	0.99286	2.357000	0.79964	0.655000	0.94253	GAG	RGS20	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000147509		0.383	RGS20-001	KNOWN	basic|CCDS	protein_coding	RGS20	HGNC	protein_coding	OTTHUMT00000380058.1	39	0.00	0	G			54866817	54866817	+1	no_errors	ENST00000297313	ensembl	human	known	69_37n	missense	116	13.43	18	SNP	1.000	C
RGS4	5999	genome.wustl.edu	37	1	163043400	163043400	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr1:163043400G>C	ENST00000367909.6	+	4	706	c.366G>C	c.(364-366)caG>caC	p.Q122H	RGS4_ENST00000421743.2_Missense_Mutation_p.Q219H|RGS4_ENST00000527809.1_Missense_Mutation_p.Q104H|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367906.3_Missense_Mutation_p.Q104H	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	122	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.Q122H(1)|p.Q219H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TCTCAGTCCAGGCAACCAAAG	0.338																																					Ovarian(76;1257 1738 3039 6086)	dbGAP											2	Substitution - Missense(2)	breast(2)											70.0	65.0	67.0					1																	163043400		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.366G>C	1.37:g.163043400G>C	ENSP00000356885:p.Gln122His		A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q219H	ENST00000367909.6	37	c.657	CCDS1243.1	1	.	.	.	.	.	.	.	.	.	.	g	14.04	2.417385	0.42918	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906;ENST00000528938	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;4.52	4.99	-1.11	0.09840	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.123193	0.53938	D	0.000053	T	0.45296	0.1335	N	0.26042	0.785	0.36924	D	0.891537	B;D	0.63046	0.137;0.992	B;P	0.60068	0.078;0.868	T	0.51442	-0.8705	9	0.59425	D	0.04	.	9.531	0.39193	0.4515:0.0:0.5485:0.0	.	122;219	P49798;A7XA59	RGS4_HUMAN;.	H	219;122;104;104;104	ENSP00000397181:Q219H;ENSP00000356885:Q122H;ENSP00000433261:Q104H;ENSP00000356882:Q104H;ENSP00000432194:Q104H	ENSP00000356882:Q104H	Q	+	3	2	RGS4	161310024	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	1.655000	0.37345	-0.393000	0.07739	-0.127000	0.14921	CAG	RGS4	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000117152		0.338	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	145	0.00	0	G	NM_005613		163043400	163043400	+1	no_errors	ENST00000421743	ensembl	human	known	69_37n	missense	126	20.99	34	SNP	1.000	C
RNF38	152006	genome.wustl.edu	37	9	36344831	36344831	+	Silent	SNP	A	A	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr9:36344831A>G	ENST00000259605.6	-	10	1490	c.1383T>C	c.(1381-1383)acT>acC	p.T461T	RNF38_ENST00000350199.4_Silent_p.T378T|RNF38_ENST00000357058.3_Silent_p.T378T|RNF38_ENST00000353739.4_Silent_p.T411T|RNF38_ENST00000377885.2_Silent_p.T378T|RNF38_ENST00000377877.4_Silent_p.T385T	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	461					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T461T(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TTACTTACAAAGTCTGTTCTG	0.378																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											106.0	104.0	104.0					9																	36344831		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1383T>C	9.37:g.36344831A>G			A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T461	ENST00000259605.6	37	c.1383	CCDS6603.1	9																																																																																			RNF38	-	NULL	ENSG00000137075		0.378	RNF38-001	KNOWN	basic|CCDS	protein_coding	RNF38	HGNC	protein_coding	OTTHUMT00000052422.3	213	0.00	0	A	NM_022781		36344831	36344831	-1	no_errors	ENST00000259605	ensembl	human	known	69_37n	silent	152	24.38	49	SNP	1.000	G
RPLP0P2	113157	genome.wustl.edu	37	11	61404918	61404918	+	RNA	SNP	A	A	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr11:61404918A>T	ENST00000496593.1	+	0	1522					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		GTGGAGACTGATGACAACTTC	0.562																																						dbGAP											0																																										-	-	-			0			BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404918A>T				RNA	SNP	-	NULL	ENST00000496593.1	37	NULL		11																																																																																			RPLP0P2	-	-	ENSG00000243742		0.562	RPLP0P2-002	KNOWN	basic	processed_transcript	RPLP0P2	HGNC	pseudogene	OTTHUMT00000350911.1	31	0.00	0	A	NR_002775		61404918	61404918	+1	no_errors	ENST00000496593	ensembl	human	known	69_37n	rna	42	12.50	6	SNP	1.000	T
RUNX2	860	genome.wustl.edu	37	6	45513000	45513000	+	Silent	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr6:45513000C>T	ENST00000371438.1	+	7	1426	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	RUNX2_ENST00000359524.5_Silent_p.L342L|RUNX2_ENST00000541979.1_Intron|RUNX2_ENST00000352853.5_Silent_p.L424L|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371436.6_Intron|RUNX2_ENST00000465038.2_Silent_p.L356L|RUNX2_ENST00000371432.3_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	356	Interaction with KAT6A. {ECO:0000250}.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L424L(1)|p.L356L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCCACTCTCAGTAAGAAGA	0.517																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											41.0	39.0	40.0					6																	45513000		1327	2309	3636	-	-	-	SO:0001819	synonymous_variant	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1068C>T	6.37:g.45513000C>T			O14614|O14615|O95181	Silent	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L424	ENST00000371438.1	37	c.1272	CCDS43467.2	6																																																																																			RUNX2	-	NULL	ENSG00000124813		0.517	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	75	0.00	0	C	NM_004348		45513000	45513000	+1	no_errors	ENST00000352853	ensembl	human	known	69_37n	silent	42	36.36	24	SNP	1.000	T
SBF2	81846	genome.wustl.edu	37	11	10014057	10014057	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr11:10014057T>G	ENST00000256190.8	-	12	1338	c.1201A>C	c.(1201-1203)Aat>Cat	p.N401H	SBF2_ENST00000527019.1_5'Flank	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	401	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.N401H(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AGGAAATCATTCTCGACCAAA	0.378																																						dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	66.0	68.0					11																	10014057		2200	4294	6494	-	-	-	SO:0001583	missense	0			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1201A>C	11.37:g.10014057T>G	ENSP00000256190:p.Asn401His		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.N401H	ENST00000256190.8	37	c.1201	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319843	0.81469	.	.	ENSG00000133812	ENST00000256190	T	0.41400	1.0	5.58	5.58	0.84498	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	N	0.14661	0.345	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	T	0.48375	-0.9041	10	0.39692	T	0.17	.	15.7546	0.78013	0.0:0.0:0.0:1.0	.	401	Q86WG5	MTMRD_HUMAN	H	401	ENSP00000256190:N401H	ENSP00000256190:N401H	N	-	1	0	SBF2	9970633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.118000	0.64928	0.460000	0.39030	AAT	SBF2	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000133812		0.378	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	127	0.00	0	T	NM_030962		10014057	10014057	-1	no_errors	ENST00000256190	ensembl	human	known	69_37n	missense	97	34.01	50	SNP	1.000	G
SDK2	54549	genome.wustl.edu	37	17	71410870	71410870	+	Silent	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr17:71410870G>A	ENST00000392650.3	-	18	2397	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	SDK2_ENST00000388726.3_Silent_p.H799H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	799	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.H799H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTTCCGCGTGCACATTGC	0.597																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											90.0	75.0	80.0					17																	71410870		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2397C>T	17.37:g.71410870G>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H799	ENST00000392650.3	37	c.2397	CCDS45769.1	17																																																																																			SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.597	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	86	0.00	0	G	NM_019064		71410870	71410870	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	silent	95	17.39	20	SNP	0.682	A
SEMA4F	10505	genome.wustl.edu	37	2	74902498	74902498	+	Silent	SNP	C	C	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr2:74902498C>G	ENST00000357877.2	+	10	1508	c.1359C>G	c.(1357-1359)ctC>ctG	p.L453L	SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Silent_p.L298L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	453	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.L453L(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						ATGATGTGCTCTACCTGGGGA	0.512											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	breast(1)											40.0	40.0	40.0					2																	74902498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1359C>G	2.37:g.74902498C>G		1156	Q542Y7|Q9NS35	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.L453	ENST00000357877.2	37	c.1359	CCDS1955.1	2																																																																																			SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000135622		0.512	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	83	0.00	0	C	NM_004263		74902498	74902498	+1	no_errors	ENST00000357877	ensembl	human	known	69_37n	silent	79	28.18	31	SNP	0.995	G
SF3B1	23451	genome.wustl.edu	37	2	198274677	198274677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr2:198274677C>A	ENST00000335508.6	-	7	812	c.721G>T	c.(721-723)Gga>Tga	p.G241*		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	241	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.G241*(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTCGCTTCCCTTTGCACGA	0.493			Mis		myelodysplastic syndrome																																	dbGAP		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	1	Substitution - Nonsense(1)	breast(1)											115.0	109.0	111.0					2																	198274677		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.721G>T	2.37:g.198274677C>A	ENSP00000335321:p.Gly241*		E9PCH3	Nonsense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.G241*	ENST00000335508.6	37	c.721	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.768322	0.96914	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.1054	0.97890	0.0:1.0:0.0:0.0	.	.	.	.	X	241	.	ENSP00000335321:G241X	G	-	1	0	SF3B1	197982922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.588000	0.82629	2.757000	0.94681	0.655000	0.94253	GGA	SF3B1	-	NULL	ENSG00000115524		0.493	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	222	0.00	0	C			198274677	198274677	-1	no_errors	ENST00000335508	ensembl	human	known	69_37n	nonsense	205	11.26	26	SNP	1.000	A
SHC3	53358	genome.wustl.edu	37	9	91660705	91660705	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr9:91660705C>T	ENST00000375835.4	-	9	1463	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	386	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)	p.G386E(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AAAAGTGTCTCCTAAGTGTCT	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											172.0	154.0	160.0					9																	91660705		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1157G>A	9.37:g.91660705C>T	ENSP00000364995:p.Gly386Glu		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.G386E	ENST00000375835.4	37	c.1157	CCDS6681.1	9	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335247	0.41398	.	.	ENSG00000148082	ENST00000375835	T	0.28069	1.63	5.25	4.35	0.52113	.	0.174068	0.50627	N	0.000102	T	0.28896	0.0717	M	0.67397	2.05	0.80722	D	1	B	0.27286	0.174	B	0.21917	0.037	T	0.07328	-1.0778	10	0.30854	T	0.27	-26.6166	8.7556	0.34643	0.1497:0.7751:0.0:0.0752	.	386	Q92529	SHC3_HUMAN	E	386	ENSP00000364995:G386E	ENSP00000364995:G386E	G	-	2	0	SHC3	90850525	1.000000	0.71417	0.986000	0.45419	0.878000	0.50629	2.380000	0.44327	1.450000	0.47717	0.557000	0.71058	GGA	SHC3	-	NULL	ENSG00000148082		0.393	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC3	HGNC	protein_coding	OTTHUMT00000052986.1	349	0.00	0	C	NM_016848		91660705	91660705	-1	no_errors	ENST00000375835	ensembl	human	known	69_37n	missense	190	29.37	79	SNP	1.000	T
SHROOM2	357	genome.wustl.edu	37	X	9863794	9863794	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chrX:9863794G>A	ENST00000380913.3	+	4	1936	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	616					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.V616M(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGACGCCCACGTGGGCAAGCC	0.657																																						dbGAP											1	Substitution - Missense(1)	breast(1)											16.0	20.0	18.0					X																	9863794		2198	4292	6490	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1846G>A	X.37:g.9863794G>A	ENSP00000370299:p.Val616Met		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V616M	ENST00000380913.3	37	c.1846	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	g	14.14	2.447596	0.43429	.	.	ENSG00000146950	ENST00000380913	T	0.15372	2.43	5.14	3.33	0.38152	.	0.854162	0.10259	N	0.696142	T	0.22513	0.0543	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	P	0.52481	0.7	T	0.14254	-1.0479	10	0.42905	T	0.14	-12.4277	3.7902	0.08716	0.0886:0.2956:0.4613:0.1545	.	616	Q13796	SHRM2_HUMAN	M	616	ENSP00000370299:V616M	ENSP00000370299:V616M	V	+	1	0	SHROOM2	9823794	0.002000	0.14202	0.001000	0.08648	0.021000	0.10359	1.234000	0.32660	0.396000	0.25283	-0.169000	0.13324	GTG	SHROOM2	-	NULL	ENSG00000146950		0.657	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	11	0.00	0	G	NM_001649		9863794	9863794	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	0.007	A
SIGLEC16	400709	genome.wustl.edu	37	19	50474185	50474185	+	RNA	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr19:50474185C>T	ENST00000602139.1	+	0	734							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						TTGCAGATGCCCCCAAAGACC	0.507																																						dbGAP											0																																										-	-	-			0			BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474185C>T				Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A250	ENST00000602139.1	37	c.750		19																																																																																			SIGLEC16	-	NULL	ENSG00000161643		0.507	SIGLEC16-001	KNOWN	basic	processed_transcript	SIGLEC16	HGNC	pseudogene	OTTHUMT00000464979.1	8	0.00	0	C	NR_002825		50474185	50474185	+1	no_stop_codon	ENST00000417280	ensembl	human	known	69_37n	silent	5	58.33	7	SNP	0.070	T
SLC5A4	6527	genome.wustl.edu	37	22	32631034	32631034	+	Silent	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr22:32631034C>T	ENST00000266086.4	-	8	722	c.711G>A	c.(709-711)gtG>gtA	p.V237V	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	237					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.V237V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGTGGCATTCACGTACTTCT	0.468																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											191.0	173.0	179.0					22																	32631034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.711G>A	22.37:g.32631034C>T			O15279	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V237	ENST00000266086.4	37	c.711	CCDS13903.1	22																																																																																			SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000100191		0.468	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	136	0.00	0	C	NM_014227		32631034	32631034	-1	no_errors	ENST00000266086	ensembl	human	known	69_37n	silent	53	51.38	56	SNP	1.000	T
SMC2	10592	genome.wustl.edu	37	9	106887243	106887243	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr9:106887243G>A	ENST00000286398.7	+	18	2596	c.2308G>A	c.(2308-2310)Gaa>Aaa	p.E770K	SMC2_ENST00000374787.3_Missense_Mutation_p.E770K|SMC2_ENST00000374793.3_Missense_Mutation_p.E770K|SMC2_ENST00000303219.8_Missense_Mutation_p.E770K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	770					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E770K(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAGAAAAGCAGAAGAAAAATA	0.348																																						dbGAP											2	Substitution - Missense(2)	breast(2)											48.0	51.0	50.0					9																	106887243		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2308G>A	9.37:g.106887243G>A	ENSP00000286398:p.Glu770Lys		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E770K	ENST00000286398.7	37	c.2308	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165075	0.57476	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;D;T	0.85013	-1.28;-1.28;-1.93;-1.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78947	0.4364	L	0.29908	0.895	0.58432	D	0.999999	B	0.24186	0.099	B	0.29353	0.101	T	0.72297	-0.4335	10	0.15952	T	0.53	-26.6298	17.6198	0.88077	0.0:0.0:1.0:0.0	.	770	O95347	SMC2_HUMAN	K	770	ENSP00000286398:E770K;ENSP00000363925:E770K;ENSP00000306152:E770K;ENSP00000363919:E770K	ENSP00000286398:E770K	E	+	1	0	SMC2	105927064	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.759000	0.74934	2.818000	0.97014	0.591000	0.81541	GAA	SMC2	-	NULL	ENSG00000136824		0.348	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	73	0.00	0	G			106887243	106887243	+1	no_errors	ENST00000286398	ensembl	human	known	69_37n	missense	79	41.48	56	SNP	1.000	A
STAT6	6778	genome.wustl.edu	37	12	57500358	57500358	+	Silent	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr12:57500358G>A	ENST00000300134.3	-	6	809	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	STAT6_ENST00000543873.2_Silent_p.L162L|STAT6_ENST00000454075.3_Silent_p.L162L|STAT6_ENST00000556155.1_Silent_p.L162L|STAT6_ENST00000537215.2_Silent_p.L52L|STAT6_ENST00000538913.2_Silent_p.L52L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	162					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L162L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGCTGTGCAGAGACACTGAG	0.522																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											120.0	118.0	119.0					12																	57500358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.484C>T	12.37:g.57500358G>A			A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L162	ENST00000300134.3	37	c.484	CCDS8931.1	12																																																																																			STAT6	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000166888		0.522	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	273	0.00	0	G	NM_003153		57500358	57500358	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	silent	120	33.33	60	SNP	0.984	A
STOML2	30968	genome.wustl.edu	37	9	35101259	35101259	+	Silent	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr9:35101259C>T	ENST00000356493.5	-	7	659	c.597G>A	c.(595-597)cgG>cgA	p.R199R	STOML2_ENST00000452248.2_Silent_p.R154R|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	199					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)	p.R199R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGGCCCGTTTCCGCCGCTCTG	0.552																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											65.0	66.0	66.0					9																	35101259		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.597G>A	9.37:g.35101259C>T			B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Silent	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.R199	ENST00000356493.5	37	c.597	CCDS6577.1	9																																																																																			STOML2	-	pfam_Band_7,prints_Stomatin	ENSG00000165283		0.552	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML2	HGNC	protein_coding	OTTHUMT00000052273.1	119	0.00	0	C	NM_013442		35101259	35101259	-1	no_errors	ENST00000356493	ensembl	human	known	69_37n	silent	78	25.71	27	SNP	1.000	T
SYCP2L	221711	genome.wustl.edu	37	6	10926595	10926595	+	Silent	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr6:10926595C>T	ENST00000283141.6	+	16	1538	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Silent_p.I255I	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	414						nucleus (GO:0005634)		p.I414I(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGACGAAAATCTCCTCAGAAC	0.358																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											149.0	144.0	145.0					6																	10926595		1811	4074	5885	-	-	-	SO:0001819	synonymous_variant	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1242C>T	6.37:g.10926595C>T			A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	NULL	p.I414	ENST00000283141.6	37	c.1242	CCDS43423.1	6																																																																																			SYCP2L	-	NULL	ENSG00000153157		0.358	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	139	0.00	0	C	NM_194299		10926595	10926595	+1	no_errors	ENST00000283141	ensembl	human	known	69_37n	silent	159	18.69	37	SNP	0.000	T
TMEM70	54968	genome.wustl.edu	37	8	74893669	74893669	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr8:74893669A>G	ENST00000312184.5	+	3	669	c.596A>G	c.(595-597)gAt>gGt	p.D199G	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	199					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)		p.D199G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CACCAGAATGATGTGAAGATT	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											147.0	134.0	138.0					8																	74893669		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.596A>G	8.37:g.74893669A>G	ENSP00000312599:p.Asp199Gly		E9PDY9|Q9NWY5	Missense_Mutation	SNP	pfam_DUF1301_TMEM70	p.D199G	ENST00000312184.5	37	c.596	CCDS6215.1	8	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247936	0.59103	.	.	ENSG00000175606	ENST00000312184	T	0.70045	-0.45	5.38	5.38	0.77491	.	0.116371	0.64402	D	0.000012	D	0.82318	0.5011	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85055	0.0931	10	0.87932	D	0	-16.6689	15.5629	0.76262	1.0:0.0:0.0:0.0	.	199	Q9BUB7	TMM70_HUMAN	G	199	ENSP00000312599:D199G	ENSP00000312599:D199G	D	+	2	0	TMEM70	75056223	1.000000	0.71417	0.864000	0.33941	0.151000	0.21798	8.632000	0.90995	2.261000	0.74972	0.533000	0.62120	GAT	TMEM70	-	pfam_DUF1301_TMEM70	ENSG00000175606		0.373	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM70	HGNC	protein_coding	OTTHUMT00000379028.1	141	0.00	0	A	NM_017866		74893669	74893669	+1	no_errors	ENST00000312184	ensembl	human	known	69_37n	missense	203	10.57	24	SNP	1.000	G
TMEM74	157753	genome.wustl.edu	37	8	109796543	109796543	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr8:109796543C>T	ENST00000297459.3	-	2	963	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	262					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.R262Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AAATCTGTTTCGACGATAGAG	0.507																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|breast(1)											87.0	82.0	84.0					8																	109796543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.785G>A	8.37:g.109796543C>T	ENSP00000297459:p.Arg262Gln			Missense_Mutation	SNP	NULL	p.R262Q	ENST00000297459.3	37	c.785	CCDS6310.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.142467	0.94560	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.80054	-0.1543	9	0.72032	D	0.01	-10.8688	20.3404	0.98760	0.0:1.0:0.0:0.0	.	262	Q96NL1	TMM74_HUMAN	Q	262	.	ENSP00000297459:R262Q	R	-	2	0	TMEM74	109865719	1.000000	0.71417	0.201000	0.23476	0.988000	0.76386	6.085000	0.71343	2.812000	0.96745	0.637000	0.83480	CGA	TMEM74	-	NULL	ENSG00000164841		0.507	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	142	0.00	0	C	NM_153015		109796543	109796543	-1	no_errors	ENST00000297459	ensembl	human	known	69_37n	missense	291	12.84	43	SNP	0.978	T
TP53	7157	genome.wustl.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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"""	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)											48.0	46.0	47.0					17																	7578370		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.559+1G>T	17.37:g.7578370C>A			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	-	e4+1	ENST00000269305.4	37	c.559+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.	TP53	-	-	ENSG00000141510		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	82	0.00	0	C	NM_000546	Intron	7578370	7578370	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	29	57.35	39	SNP	1.000	A
TRPC3	7222	genome.wustl.edu	37	4	122853549	122853549	+	Silent	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr4:122853549G>A	ENST00000379645.3	-	2	937	c.864C>T	c.(862-864)atC>atT	p.I288I	TRPC3_ENST00000513531.1_Silent_p.I215I|TRPC3_ENST00000264811.5_Silent_p.I215I	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	203					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.I215I(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTAGGCATTGATCCTCGAGC	0.622																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											47.0	42.0	44.0					4																	122853549		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.864C>T	4.37:g.122853549G>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.I288	ENST00000379645.3	37	c.864	CCDS47130.1	4																																																																																			TRPC3	-	pfam_TRP_dom,tigrfam_TRP_channel	ENSG00000138741		0.622	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	39	0.00	0	G	NM_003305		122853549	122853549	-1	no_errors	ENST00000379645	ensembl	human	known	69_37n	silent	10	70.27	26	SNP	1.000	A
WDR93	56964	genome.wustl.edu	37	15	90258281	90258281	+	Silent	SNP	C	C	T			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr15:90258281C>T	ENST00000268130.7	+	6	812	c.711C>T	c.(709-711)ccC>ccT	p.P237P	WDR93_ENST00000560294.1_Silent_p.P237P|RNU6-132P_ENST00000383863.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	237					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.P237P(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TAGAGCACCCCCAACTCACTT	0.468																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											90.0	83.0	86.0					15																	90258281		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.711C>T	15.37:g.90258281C>T			Q8N7Y8|Q9NP89	Silent	SNP	superfamily_WD40_repeat_dom	p.P237	ENST00000268130.7	37	c.711	CCDS32326.1	15																																																																																			WDR93	-	superfamily_WD40_repeat_dom	ENSG00000140527		0.468	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	184	0.00	0	C	NM_020212		90258281	90258281	+1	no_errors	ENST00000268130	ensembl	human	known	69_37n	silent	210	13.22	32	SNP	0.014	T
YTHDF3	253943	genome.wustl.edu	37	8	64099880	64099880	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr8:64099880C>G	ENST00000539294.1	+	4	1624	c.1308C>G	c.(1306-1308)atC>atG	p.I436M	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.I247M|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	437	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AATACTCTATCTGGTGTAGTA	0.403																																						dbGAP											0													101.0	98.0	99.0					8																	64099880		1943	4153	6096	-	-	-	SO:0001583	missense	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1308C>G	8.37:g.64099880C>G	ENSP00000473496:p.Ile436Met		B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000539294.1	37	NULL		8																																																																																			YTHDF3	-	-	ENSG00000185728		0.403	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	YTHDF3	HGNC	protein_coding		196	0.00	0	C	NM_152758		64099880	64099880	+1	no_errors	ENST00000339066	ensembl	human	known	69_37n	rna	231	13.48	36	SNP	1.000	G
ZSCAN32	54925	genome.wustl.edu	37	16	3432953	3432953	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr16:3432953G>A	ENST00000396852.4	-	7	2300	c.1993C>T	c.(1993-1995)Cac>Tac	p.H665Y	ZSCAN32_ENST00000439568.2_Missense_Mutation_p.H376Y|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.H453Y|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.H665Y	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	665					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H453Y(1)|p.V15V(1)									CTCTCACAGTGAGAACACCTG	0.483																																						dbGAP											2	Substitution - Missense(1)|Substitution - coding silent(1)	breast(2)											123.0	110.0	114.0					16																	3432953		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1993C>T	16.37:g.3432953G>A	ENSP00000380061:p.His665Tyr		B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H665Y	ENST00000396852.4	37	c.1993		16	.	.	.	.	.	.	.	.	.	.	G	1.957	-0.439768	0.04636	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	3.6	2.62	0.31277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15089	0.0364	N	0.17723	0.515	0.09310	N	1	D;P	0.56035	0.974;0.919	P;B	0.47786	0.557;0.365	T	0.10894	-1.0610	9	0.87932	D	0	.	9.9154	0.41430	0.0:0.4424:0.5576:0.0	.	453;665	Q9NX65;Q6WMU8	ZN434_HUMAN;.	Y	453;665;665;376	ENSP00000302502:H453Y;ENSP00000380061:H665Y;ENSP00000380057:H665Y;ENSP00000391787:H376Y	ENSP00000302502:H453Y	H	-	1	0	ZNF434	3372954	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.115000	0.10741	0.493000	0.27837	0.655000	0.94253	CAC	ZNF434	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140987		0.483	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	209	0.00	0	G	NM_017810		3432953	3432953	-1	no_errors	ENST00000396846	ensembl	human	known	69_37n	missense	145	30.95	65	SNP	0.000	A
ZFP69	339559	genome.wustl.edu	37	1	40947462	40947462	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A075-01A-11D-A099-09	TCGA-A8-A075-10B-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	085dd125-1f95-46aa-a480-2965090e8591	d67faef9-d467-4476-bbe9-181225c15e7b	g.chr1:40947462T>A	ENST00000372706.1	+	3	1161	c.155T>A	c.(154-156)gTa>gAa	p.V52E	ZFP69_ENST00000372705.3_Missense_Mutation_p.V52E			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V52E(1)									GCTGAGGACGTAAAGACCCAG	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	105.0	106.0					1																	40947462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.155T>A	1.37:g.40947462T>A	ENSP00000361791:p.Val52Glu		Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V52E	ENST00000372706.1	37	c.155	CCDS30686.1	1	.	.	.	.	.	.	.	.	.	.	.	5.385	0.256233	0.10185	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04970	3.52;3.52	0.158	0.158	0.14942	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.45659	-0.9246	8	0.30078	T	0.28	.	.	.	.	.	52	Q49AA0	ZN642_HUMAN	E	52	ENSP00000361791:V52E;ENSP00000361790:V52E	ENSP00000361790:V52E	V	+	2	0	ZNF642	40720049	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.215000	0.17562	0.175000	0.19841	0.172000	0.16884	GTA	ZNF642	-	NULL	ENSG00000187815		0.488	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF642	HGNC	protein_coding	OTTHUMT00000019082.1	100	0.00	0	T	NM_198494		40947462	40947462	+1	no_errors	ENST00000372705	ensembl	human	known	69_37n	missense	48	45.56	41	SNP	0.002	A
