#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A2M	2	genome.wustl.edu	37	12	9256962	9256962	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr12:9256962G>T	ENST00000318602.7	-	11	1446	c.1139C>A	c.(1138-1140)cCa>cAa	p.P380Q		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	380					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.P380Q(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GACTTTATTTGGTATAGGGAC	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											133.0	125.0	127.0					12																	9256962		1881	4119	6000	-	-	-	SO:0001583	missense	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1139C>A	12.37:g.9256962G>T	ENSP00000323929:p.Pro380Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.P380Q	ENST00000318602.7	37	c.1139	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616577	0.28801	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.28454	1.61	5.87	4.97	0.65823	.	0.356017	0.27504	N	0.019067	T	0.38825	0.1055	M	0.83118	2.625	0.37490	D	0.916349	P	0.39157	0.662	B	0.37387	0.248	T	0.52975	-0.8503	10	0.59425	D	0.04	.	12.6806	0.56920	0.0:0.0:0.835:0.165	.	380	P01023	A2MG_HUMAN	Q	380;395	ENSP00000323929:P380Q	ENSP00000323929:P380Q	P	-	2	0	A2M	9148229	0.786000	0.28738	0.898000	0.35279	0.114000	0.19823	2.235000	0.43044	1.595000	0.50050	0.655000	0.94253	CCA	A2M	-	NULL	ENSG00000175899		0.388	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	234	0.00	0	G	NM_000014		9256962	9256962	-1	no_errors	ENST00000318602	ensembl	human	known	69_37n	missense	197	19.84	49	SNP	0.957	T
AIM1	202	genome.wustl.edu	37	6	107016426	107016426	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr6:107016426G>A	ENST00000369066.3	+	20	5644	c.5157G>A	c.(5155-5157)atG>atA	p.M1719I	AIM1_ENST00000535438.1_Missense_Mutation_p.M538I	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.M1719I(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGGAAGCCATGGTCCTATATA	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											136.0	129.0	131.0					6																	107016426		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.5157G>A	6.37:g.107016426G>A	ENSP00000358062:p.Met1719Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.M1719I	ENST00000369066.3	37	c.5157	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034177	0.54896	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	T;T	0.72282	-0.56;-0.64	6.07	6.07	0.98685	Ricin B lectin (1);	0.508193	0.24820	N	0.035326	T	0.42743	0.1216	N	0.08118	0	0.38250	D	0.941582	B;B	0.27380	0.036;0.177	B;B	0.29942	0.008;0.109	T	0.42816	-0.9429	10	0.34782	T	0.22	.	18.8398	0.92177	0.0:0.0:1.0:0.0	.	538;1719	B4DU04;Q9Y4K1	.;AIM1_HUMAN	I	1719;538	ENSP00000358062:M1719I;ENSP00000439183:M538I	ENSP00000358062:M1719I	M	+	3	0	AIM1	107123119	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.239000	0.43079	2.885000	0.99019	0.655000	0.94253	ATG	AIM1	-	pfscan_Ricin_B_lectin	ENSG00000112297		0.408	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	115	0.00	0	G			107016426	107016426	+1	no_errors	ENST00000369066	ensembl	human	known	69_37n	missense	92	15.60	17	SNP	1.000	A
ANKRD30B	374860	genome.wustl.edu	37	18	14763786	14763786	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr18:14763786C>G	ENST00000358984.4	+	7	1102	c.922C>G	c.(922-924)Cgc>Ggc	p.R308G	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R308G	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	308								p.R308G(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CGAGGCTGCACGCTTGGTGGA	0.483																																						dbGAP											2	Substitution - Missense(2)	breast(2)											59.0	58.0	58.0					18																	14763786		692	1591	2283	-	-	-	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.922C>G	18.37:g.14763786C>G	ENSP00000351875:p.Arg308Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R308G	ENST00000358984.4	37	c.922	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	0.055	-1.240155	0.01493	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.32753	1.47;1.44	0.235	0.235	0.15431	.	.	.	.	.	T	0.14960	0.0361	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29731	-1.0002	8	0.22109	T	0.4	.	.	.	.	.	308	F8WAG3	.	G	308	ENSP00000351875:R308G;ENSP00000399031:R308G	ENSP00000351875:R308G	R	+	1	0	ANKRD30B	14753786	0.008000	0.16893	0.011000	0.14972	0.011000	0.07611	0.260000	0.18424	0.308000	0.22923	0.313000	0.20887	CGC	ANKRD30B	-	NULL	ENSG00000180777		0.483	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	44	0.00	0	C	NM_001145029		14763786	14763786	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	missense	84	13.40	13	SNP	0.012	G
B3GALT2	8707	genome.wustl.edu	37	1	193150454	193150454	+	Missense_Mutation	SNP	C	C	T	rs576603378		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr1:193150454C>T	ENST00000367434.4	-	2	994	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	80					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R80Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CCAAATGTTCCGAAGGGAGCT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		18057	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - Missense(1)	breast(1)											185.0	175.0	178.0					1																	193150454		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.239G>A	1.37:g.193150454C>T	ENSP00000356404:p.Arg80Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.R80Q	ENST00000367434.4	37	c.239	CCDS1383.1	1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522862	0.27211	.	.	ENSG00000162630	ENST00000367434	T	0.39787	1.06	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	L	0.53249	1.67	0.58432	D	0.999999	P	0.35011	0.48	B	0.15484	0.013	T	0.23154	-1.0196	10	0.13853	T	0.58	.	19.1227	0.93369	0.0:1.0:0.0:0.0	.	80	O43825	B3GT2_HUMAN	Q	80	ENSP00000356404:R80Q	ENSP00000356404:R80Q	R	-	2	0	B3GALT2	191417077	1.000000	0.71417	0.986000	0.45419	0.002000	0.02628	5.707000	0.68370	2.581000	0.87130	0.655000	0.94253	CGG	B3GALT2	-	NULL	ENSG00000162630		0.483	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT2	HGNC	protein_coding	OTTHUMT00000086759.1	156	0.64	1	C	NM_003783		193150454	193150454	-1	no_errors	ENST00000367434	ensembl	human	known	69_37n	missense	145	21.08	39	SNP	1.000	T
C17orf77	146723	genome.wustl.edu	37	17	72588188	72588188	+	Start_Codon_SNP	SNP	G	G	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr17:72588188G>T	ENST00000392620.1	+	3	365	c.3G>T	c.(1-3)atG>atT	p.M1I	C17orf77_ENST00000328023.2_Start_Codon_SNP_p.M1I|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	1						extracellular region (GO:0005576)		p.M1I(1)		breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGGCATGGATGGATGAATTGG	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											102.0	104.0	103.0					17																	72588188		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0				CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.3G>T	17.37:g.72588188G>T	ENSP00000376396:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.M1I	ENST00000392620.1	37	c.3	CCDS32721.1	17	.	.	.	.	.	.	.	.	.	.	G	4.959	0.178159	0.09443	.	.	ENSG00000182352	ENST00000524389;ENST00000392620;ENST00000328023	T;T	0.48201	0.82;0.82	2.95	0.783	0.18572	.	.	.	.	.	T	0.37293	0.0998	.	.	.	0.80722	D	1	B	0.24823	0.112	B	0.23574	0.047	T	0.26916	-1.0089	8	0.87932	D	0	.	8.7856	0.34818	0.0:0.4587:0.5413:0.0	.	1	Q96MU5	CQ077_HUMAN	I	1	ENSP00000376396:M1I;ENSP00000329353:M1I	ENSP00000329353:M1I	M	+	3	0	C17orf77	70099783	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.448000	0.21726	0.257000	0.21650	0.609000	0.83330	ATG	C17orf77	-	NULL	ENSG00000182352		0.433	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf77	HGNC	protein_coding	OTTHUMT00000145090.2	110	0.00	0	G	NM_152460	Missense_Mutation	72588188	72588188	+1	no_errors	ENST00000328023	ensembl	human	known	69_37n	missense	53	18.46	12	SNP	0.000	T
CATSPER4	378807	genome.wustl.edu	37	1	26527420	26527420	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr1:26527420G>A	ENST00000456354.2	+	8	1154	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	363					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.G363R(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCTTGCGGGAGGCCCCCT	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											68.0	68.0	68.0					1																	26527420		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1087G>A	1.37:g.26527420G>A	ENSP00000390423:p.Gly363Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4W6|Q5VY71	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.G363R	ENST00000456354.2	37	c.1087	CCDS30645.1	1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158062	0.57368	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97553	-4.42;-4.43	4.65	2.74	0.32292	.	0.485574	0.17274	N	0.180254	D	0.96571	0.8881	L	0.59436	1.845	0.09310	N	1	D;D	0.67145	0.993;0.996	D;D	0.68483	0.909;0.958	D	0.89757	0.3944	10	0.11485	T	0.65	-17.7298	5.6359	0.17536	0.1078:0.2032:0.689:0.0	.	363;347	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	R	363	ENSP00000341006:G363R;ENSP00000390423:G363R	ENSP00000341006:G363R	G	+	1	0	CATSPER4	26400007	0.108000	0.22018	0.019000	0.16419	0.068000	0.16541	0.846000	0.27682	0.948000	0.37687	0.313000	0.20887	GGA	CATSPER4	-	NULL	ENSG00000188782		0.567	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER4	HGNC	protein_coding	OTTHUMT00000019849.2	127	0.00	0	G	NM_198137		26527420	26527420	+1	no_errors	ENST00000456354	ensembl	human	known	69_37n	missense	79	15.96	15	SNP	0.003	A
CCDC84	338657	genome.wustl.edu	37	11	118869807	118869807	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr11:118869807A>G	ENST00000334418.1	+	3	427	c.371A>G	c.(370-372)cAg>cGg	p.Q124R	CCDC84_ENST00000580556.1_3'UTR|RP11-110I1.12_ENST00000526453.1_lincRNA	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	124								p.Q124R(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GTCACTCCCCAGGATTATGCG	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	81.0	83.0					11																	118869807		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.371A>G	11.37:g.118869807A>G	ENSP00000334767:p.Gln124Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.Q124R	ENST00000334418.1	37	c.371	CCDS8405.1	11	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754330	0.49362	.	.	ENSG00000186166	ENST00000334418	T	0.42513	0.97	4.97	3.82	0.43975	.	0.234553	0.42053	D	0.000777	T	0.29588	0.0738	N	0.22421	0.69	0.25163	N	0.990339	B	0.22146	0.065	B	0.24848	0.056	T	0.27606	-1.0069	10	0.72032	D	0.01	-10.7699	9.9783	0.41797	0.8302:0.1698:0.0:0.0	.	124	Q86UT8	CCD84_HUMAN	R	124	ENSP00000334767:Q124R	ENSP00000334767:Q124R	Q	+	2	0	CCDC84	118375017	0.984000	0.35163	0.983000	0.44433	0.834000	0.47266	3.079000	0.50104	0.906000	0.36621	0.449000	0.29647	CAG	CCDC84	-	NULL	ENSG00000186166		0.463	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC84	HGNC	protein_coding	OTTHUMT00000389315.1	264	0.38	1	A	NM_198489		118869807	118869807	+1	no_errors	ENST00000334418	ensembl	human	known	69_37n	missense	167	17.33	35	SNP	0.789	G
CD2BP2	10421	genome.wustl.edu	37	16	30365584	30365585	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr16:30365584_30365585delAG	ENST00000305596.3	-	3	312_313	c.137_138delCT	c.(136-138)tctfs	p.S46fs	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Frame_Shift_Del_p.S46fs	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	46					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)	p.S46fs*3(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CGCTATCCAAAGAGTGTTTGCC	0.525																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.137_138delCT	16.37:g.30365586_30365587delAG	ENSP00000304903:p.Ser46fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDX2|Q9ULP2	Frame_Shift_Del	DEL	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.S46fs	ENST00000305596.3	37	c.138_137	CCDS10675.1	16																																																																																			CD2BP2	-	NULL	ENSG00000169217		0.525	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2BP2	HGNC	protein_coding	OTTHUMT00000255528.1	156	0.00	0	AG	NM_006110		30365584	30365585	-1	no_errors	ENST00000305596	ensembl	human	known	69_37n	frame_shift_del	137	13.29	21	DEL	0.998:1.000	-
CD97	976	genome.wustl.edu	37	19	14508712	14508712	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr19:14508712delT	ENST00000242786.5	+	8	864	c.784delT	c.(784-786)tccfs	p.S262fs	CD97_ENST00000357355.3_Frame_Shift_Del_p.S213fs|CD97_ENST00000358600.3_Frame_Shift_Del_p.S169fs	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	262					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TATGACTTTCTCCACCTGGAC	0.612																																						dbGAP											0													8.0	13.0	11.0					19																	14508712		1772	3762	5534	-	-	-	SO:0001589	frameshift_variant	0				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.784delT	19.37:g.14508712delT	ENSP00000242786:p.Ser262fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.S262fs	ENST00000242786.5	37	c.784	CCDS32929.1	19																																																																																			CD97	-	prints_GPCR_2_CD97	ENSG00000123146		0.612	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	27	0.00	0	T	NM_078481		14508712	14508712	+1	no_errors	ENST00000242786	ensembl	human	known	69_37n	frame_shift_del	16	38.46	10	DEL	0.011	-
CDC42BPB	9578	genome.wustl.edu	37	14	103416191	103416191	+	Silent	SNP	G	G	T	rs148759838	byFrequency	TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr14:103416191G>T	ENST00000361246.2	-	26	3648	c.3360C>A	c.(3358-3360)gtC>gtA	p.V1120V		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.V1120V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGTCACAGACGACTGCATATG	0.552																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											147.0	134.0	138.0					14																	103416191		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3360C>A	14.37:g.103416191G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Citron,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd	p.S368*	ENST00000361246.2	37	c.1103	CCDS9978.1	14																																																																																			CDC42BPB	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000198752		0.552	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	13	0.00	0	G	NM_006035		103416191	103416191	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559043	ensembl	human	novel	69_37n	nonsense	2	66.67	4	SNP	0.890	T
CEACAM6	4680	genome.wustl.edu	37	19	42260867	42260867	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr19:42260867C>T	ENST00000199764.6	+	2	642	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	142	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P142S(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCATGTATACCGTGAGTATTT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											242.0	241.0	241.0					19																	42260867		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.424+1C>T	19.37:g.42260867C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P142S	ENST00000199764.6	37	c.424	CCDS12585.1	19	.	.	.	.	.	.	.	.	.	.	C	5.781	0.328519	0.10956	.	.	ENSG00000086548	ENST00000199764	T	0.21191	2.02	2.15	-0.876	0.10624	.	.	.	.	.	T	0.10895	0.0266	N	0.25992	0.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40496	-0.9560	9	0.07813	T	0.8	.	7.1362	0.25529	0.0:0.4392:0.5608:0.0	.	142	P40199	CEAM6_HUMAN	S	142	ENSP00000199764:P142S	ENSP00000199764:P142S	P	+	1	0	CEACAM6	46952707	0.001000	0.12720	0.010000	0.14722	0.046000	0.14306	-1.270000	0.02831	0.164000	0.19529	0.305000	0.20034	CCG	CEACAM6	-	NULL	ENSG00000086548		0.488	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM6	HGNC	protein_coding	OTTHUMT00000321147.1	347	0.29	1	C		Missense_Mutation	42260867	42260867	+1	no_errors	ENST00000199764	ensembl	human	known	69_37n	missense	165	39.11	106	SNP	0.100	T
CERS2	29956	genome.wustl.edu	37	1	150939291	150939291	+	Silent	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr1:150939291G>A	ENST00000271688.6	-	9	1175	c.789C>T	c.(787-789)aaC>aaT	p.N263N	RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Silent_p.N263N|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Silent_p.N254N|RP11-316M1.12_ENST00000560481.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	263	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.N263N(1)									CGATGAAGATGTTGTTGCAGG	0.502																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											185.0	152.0	164.0					1																	150939291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.789C>T	1.37:g.150939291G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain	p.N263	ENST00000271688.6	37	c.789	CCDS973.1	1																																																																																			CERS2	-	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000143418		0.502	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084897.2	425	0.00	0	G	NM_022075		150939291	150939291	-1	no_errors	ENST00000271688	ensembl	human	known	69_37n	silent	320	54.65	388	SNP	1.000	A
CTNND2	1501	genome.wustl.edu	37	5	10981909	10981909	+	Frame_Shift_Del	DEL	G	G	-	rs571416843		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr5:10981909delG	ENST00000304623.8	-	21	3582	c.3393delC	c.(3391-3393)cccfs	p.P1131fs	CTNND2_ENST00000359640.2_Frame_Shift_Del_p.P1073fs|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.P1040fs|CTNND2_ENST00000458100.2_Frame_Shift_Del_p.P698fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.P794fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1131					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A1132fs*79(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTCTTCAGCGGGCGCACCAT	0.333																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											166.0	161.0	163.0					5																	10981909		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3393delC	5.37:g.10981909delG	ENSP00000307134:p.Pro1131fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A1132fs	ENST00000304623.8	37	c.3393	CCDS3881.1	5																																																																																			CTNND2	-	NULL	ENSG00000169862		0.333	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	370	0.00	0	G	NM_001332		10981909	10981909	-1	no_errors	ENST00000304623	ensembl	human	known	69_37n	frame_shift_del	289	30.99	132	DEL	0.985	-
CTNND2	1501	genome.wustl.edu	37	5	11110989	11110991	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr5:11110989_11110991delTTC	ENST00000304623.8	-	14	2631_2633	c.2442_2444delGAA	c.(2440-2445)aagaaa>aaa	p.814_815KK>K	CTNND2_ENST00000359640.2_In_Frame_Del_p.814_815KK>K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_In_Frame_Del_p.723_724KK>K|CTNND2_ENST00000458100.2_In_Frame_Del_p.381_382KK>K|CTNND2_ENST00000503622.1_In_Frame_Del_p.477_478KK>K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	814	Poly-Lys.				cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATTTCTTTTTCTTCTTCTTCT	0.502																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2442_2444delGAA	5.37:g.11110998_11111000delTTC	ENSP00000307134:p.Lys817del	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	In_Frame_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K817in_frame_del	ENST00000304623.8	37	c.2444_2442	CCDS3881.1	5																																																																																			CTNND2	-	superfamily_ARM-type_fold	ENSG00000169862		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	41	0.00	0	TTC	NM_001332		11110989	11110991	-1	no_errors	ENST00000304623	ensembl	human	known	69_37n	in_frame_del	23	11.54	3	DEL	1.000:1.000:1.000	-
CYP2B6	1555	genome.wustl.edu	37	19	41518287	41518287	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr19:41518287A>G	ENST00000324071.4	+	7	1056	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	CYP2B6_ENST00000593831.1_Missense_Mutation_p.E114G|CYP2B6_ENST00000330446.5_Missense_Mutation_p.E150G	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	350					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.E350G(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCATACACAGAGGCAGTCATC	0.517																																						dbGAP											1	Substitution - Missense(1)	breast(1)											116.0	90.0	99.0					19																	41518287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1049A>G	19.37:g.41518287A>G	ENSP00000324648:p.Glu350Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like	p.E350G	ENST00000324071.4	37	c.1049	CCDS12570.1	19	.	.	.	.	.	.	.	.	.	.	.	13.48	2.249721	0.39797	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.70282	-0.47;-0.47	4.3	4.3	0.51218	.	0.108387	0.64402	D	0.000013	T	0.81479	0.4831	M	0.89534	3.04	0.42879	D	0.99416	B;D	0.58268	0.356;0.982	B;P	0.53102	0.194;0.718	D	0.85718	0.1323	10	0.87932	D	0	.	11.4609	0.50211	1.0:0.0:0.0:0.0	.	150;350	B4DWP3;P20813	.;CP2B6_HUMAN	G	350;150	ENSP00000324648:E350G;ENSP00000330650:E150G	ENSP00000324648:E350G	E	+	2	0	CYP2B6	46210127	1.000000	0.71417	0.052000	0.19188	0.467000	0.32768	6.699000	0.74613	1.800000	0.52685	0.248000	0.18094	GAG	CYP2B6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000197408		0.517	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	HGNC	protein_coding	OTTHUMT00000463260.1	458	0.22	1	A	NM_000767		41518287	41518287	+1	no_errors	ENST00000324071	ensembl	human	known	69_37n	missense	321	23.39	98	SNP	0.989	G
DDB1	1642	genome.wustl.edu	37	11	61068352	61068352	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr11:61068352C>T	ENST00000301764.7	-	26	3665	c.3268G>A	c.(3268-3270)Gac>Aac	p.D1090N	DDB1_ENST00000538470.1_Missense_Mutation_p.D137N|DDB1_ENST00000451943.2_Missense_Mutation_p.D77N|DDB1_ENST00000450997.2_Missense_Mutation_p.D401N	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1090	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.D1090N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGTCACCGTCGATGAAACCT	0.532								Nucleotide excision repair (NER)																														dbGAP											1	Substitution - Missense(1)	breast(1)											177.0	150.0	159.0					11																	61068352		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3268G>A	11.37:g.61068352C>T	ENSP00000301764:p.Asp1090Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.D1090N	ENST00000301764.7	37	c.3268	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361159	0.61403	.	.	ENSG00000167986	ENST00000301764;ENST00000451943;ENST00000450997;ENST00000538470	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.95	5.95	0.96441	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.098701	0.64402	D	0.000003	D	0.86598	0.5971	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88373	0.2996	10	0.87932	D	0	-24.332	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1090	Q16531	DDB1_HUMAN	N	1090;77;401;137	ENSP00000301764:D1090N;ENSP00000399813:D77N;ENSP00000388705:D401N;ENSP00000441522:D137N	ENSP00000301764:D1090N	D	-	1	0	DDB1	60824928	1.000000	0.71417	0.995000	0.50966	0.785000	0.44390	7.378000	0.79679	2.824000	0.97209	0.655000	0.94253	GAC	DDB1	-	pfam_Cleavage/polyA-sp_fac_asu_C	ENSG00000167986		0.532	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	330	0.00	0	C	NM_001923		61068352	61068352	-1	no_errors	ENST00000301764	ensembl	human	known	69_37n	missense	140	23.50	43	SNP	1.000	T
DENND4C	55667	genome.wustl.edu	37	9	19372133	19372133	+	Missense_Mutation	SNP	G	G	C	rs147925167		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr9:19372133G>C	ENST00000380432.2	+	28	5017	c.4984G>C	c.(4984-4986)Gag>Cag	p.E1662Q	RP11-513M16.7_ENST00000609609.1_RNA|DENND4C_ENST00000602925.1_Missense_Mutation_p.E1898Q|DENND4C_ENST00000434457.2_Missense_Mutation_p.E1947Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1662					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E1662Q(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGCCAGTGTCGAGTGGTGCAG	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											120.0	126.0	124.0					9																	19372133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4984G>C	9.37:g.19372133G>C	ENSP00000369797:p.Glu1662Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1662Q	ENST00000380432.2	37	c.4984		9	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230050	0.39399	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000540671;ENST00000380432;ENST00000361024	T;T	0.22134	1.98;1.97	5.46	5.46	0.80206	.	0.176390	0.49916	D	0.000128	T	0.20659	0.0497	L	0.36672	1.1	0.38339	D	0.944021	P;P	0.39326	0.567;0.668	B;B	0.37650	0.255;0.1	T	0.03829	-1.1000	9	.	.	.	-8.6633	19.3045	0.94155	0.0:0.0:1.0:0.0	.	992;1662	B7Z660;Q5VZ89	.;DEN4C_HUMAN	Q	1662;1135;992;1135;659	ENSP00000305795:E1135Q;ENSP00000443804:E992Q	.	E	+	1	0	DENND4C	19362133	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	4.605000	0.61119	2.564000	0.86499	0.591000	0.81541	GAG	DENND4C	-	NULL	ENSG00000137145		0.408	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		202	0.00	0	G	NM_017925		19372133	19372133	+1	no_errors	ENST00000380437	ensembl	human	known	69_37n	missense	175	17.37	37	SNP	1.000	C
DGKI	9162	genome.wustl.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr7:137263039G>A	ENST00000288490.5	-	16	1675	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.R559*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.R559*|DGKI_ENST00000453654.2_Nonsense_Mutation_p.R259*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	559					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R559*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											66.0	67.0	67.0					7																	137263039		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1675C>T	7.37:g.137263039G>A	ENSP00000288490:p.Arg559*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R559*	ENST00000288490.5	37	c.1675	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.960103	0.99018	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.15	3.16	0.36331	.	0.061993	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0951	0.65016	0.0:0.0:0.6495:0.3505	.	.	.	.	X	259;507;559;559;559	.	ENSP00000288490:R559X	R	-	1	2	DGKI	136913579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.259000	0.32956	1.248000	0.43934	0.462000	0.41574	CGA	DGKI	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000157680		0.338	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	48	0.00	0	G	NM_004717		137263039	137263039	-1	no_errors	ENST00000424189	ensembl	human	known	69_37n	nonsense	97	13.39	15	SNP	1.000	A
DNAH1	25981	genome.wustl.edu	37	3	52386030	52386030	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr3:52386030delC	ENST00000420323.2	+	17	3043	c.2782delC	c.(2782-2784)cagfs	p.Q930fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	930	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAGCTGGTGCAGCAGCAGCA	0.552																																						dbGAP											0													39.0	41.0	40.0					3																	52386030		2031	4191	6222	-	-	-	SO:0001589	frameshift_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2782delC	3.37:g.52386030delC	ENSP00000401514:p.Gln930fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.Q928fs	ENST00000420323.2	37	c.2782	CCDS46842.1	3																																																																																			DNAH1	-	NULL	ENSG00000114841		0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	55	0.00	0	C	NM_015512		52386030	52386030	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	1.000	-
DOPEY1	23033	genome.wustl.edu	37	6	83845441	83845441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr6:83845441C>T	ENST00000349129.2	+	20	3234	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.R973*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.R983*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	992					protein transport (GO:0015031)			p.R992*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGATATTGCACGAGTTTTGGA	0.443																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											179.0	158.0	165.0					6																	83845441		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2974C>T	6.37:g.83845441C>T	ENSP00000195654:p.Arg992*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.R992*	ENST00000349129.2	37	c.2974	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	42	9.176784	0.99091	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.5	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9956	0.53201	0.713:0.287:0.0:0.0	.	.	.	.	X	992;973;973	.	ENSP00000237163:R973X	R	+	1	2	DOPEY1	83902160	0.783000	0.28701	0.999000	0.59377	0.692000	0.40212	1.337000	0.33862	0.929000	0.37192	-0.397000	0.06425	CGA	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.443	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	98	0.00	0	C	NM_015018		83845441	83845441	+1	no_errors	ENST00000349129	ensembl	human	known	69_37n	nonsense	59	46.36	51	SNP	1.000	T
FER1L6	654463	genome.wustl.edu	37	8	125033835	125033836	+	Frame_Shift_Del	DEL	AA	AA	-	rs369973685		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr8:125033835_125033836delAA	ENST00000522917.1	+	17	2265_2266	c.2059_2060delAA	c.(2059-2061)aaafs	p.K688fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.K688fs|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	688						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCAGCAGAAGAAAAAGTTATCT	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2059_2060delAA	8.37:g.125033837_125033838delAA	ENSP00000428280:p.Lys688fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K688fs	ENST00000522917.1	37	c.2059_2060	CCDS43767.1	8																																																																																			FER1L6	-	NULL	ENSG00000214814		0.426	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	122	0.00	0	AA	NM_001039112		125033835	125033836	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	frame_shift_del	120	17.24	25	DEL	1.000:1.000	-
FLG2	388698	genome.wustl.edu	37	1	152323181	152323181	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr1:152323181A>G	ENST00000388718.5	-	3	7153	c.7081T>C	c.(7081-7083)Tat>Cat	p.Y2361H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2361					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Y2361H(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGGCCCATACCCAGTGTGC	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											224.0	212.0	216.0					1																	152323181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.7081T>C	1.37:g.152323181A>G	ENSP00000373370:p.Tyr2361His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Y2361H	ENST00000388718.5	37	c.7081	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.963468	0.53507	.	.	ENSG00000143520	ENST00000388718	T	0.03272	3.99	4.96	3.81	0.43845	.	.	.	.	.	T	0.02342	0.0072	N	0.22421	0.69	0.18873	N	0.999985	D	0.69078	0.997	D	0.65573	0.936	T	0.46871	-0.9160	9	0.15066	T	0.55	-2.4636	8.9012	0.35497	0.8112:0.1888:0.0:0.0	.	2361	Q5D862	FILA2_HUMAN	H	2361	ENSP00000373370:Y2361H	ENSP00000373370:Y2361H	Y	-	1	0	FLG2	150589805	0.366000	0.25014	0.931000	0.37212	0.057000	0.15508	3.949000	0.56668	1.001000	0.39076	-0.449000	0.05564	TAT	FLG2	-	NULL	ENSG00000143520		0.453	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	194	0.00	0	A	NM_001014342		152323181	152323181	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	missense	301	15.60	56	SNP	0.876	G
GDPD4	220032	genome.wustl.edu	37	11	76990360	76990360	+	Silent	SNP	T	T	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr11:76990360T>A	ENST00000376217.2	-	3	388	c.138A>T	c.(136-138)tcA>tcT	p.S46S	GDPD4_ENST00000315938.4_Silent_p.S46S|GDPD4_ENST00000527489.1_Intron			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	46					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.S46S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CCAACAGCAATGAAGAGTAGG	0.433																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	91.0	95.0					11																	76990360		2200	4292	6492	-	-	-	SO:0001819	synonymous_variant	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.138A>T	11.37:g.76990360T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5B0	Silent	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.S46	ENST00000376217.2	37	c.138		11																																																																																			GDPD4	-	NULL	ENSG00000178795		0.433	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	254	0.00	0	T	NM_182833		76990360	76990360	-1	no_errors	ENST00000376217	ensembl	human	known	69_37n	silent	236	35.87	132	SNP	0.417	A
GPR32	2854	genome.wustl.edu	37	19	51274647	51274647	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr19:51274647G>A	ENST00000270590.4	+	1	927	c.790G>A	c.(790-792)Gct>Act	p.A264T		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	264					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A264T(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCTGGTGAGCGCTTTCTTTAT	0.597																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	dbGAP											1	Substitution - Missense(1)	breast(1)											71.0	74.0	73.0					19																	51274647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.790G>A	19.37:g.51274647G>A	ENSP00000270590:p.Ala264Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.A264T	ENST00000270590.4	37	c.790	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	6.965	0.547965	0.13312	.	.	ENSG00000142511	ENST00000270590	T	0.72394	-0.65	2.56	0.0417	0.14214	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.67906	0.2943	L	0.43554	1.36	0.23492	N	0.99757	D	0.56287	0.975	P	0.56127	0.792	T	0.56202	-0.8018	9	0.49607	T	0.09	.	3.0053	0.06026	0.282:0.0:0.5083:0.2097	.	264	O75388	GPR32_HUMAN	T	264	ENSP00000270590:A264T	ENSP00000270590:A264T	A	+	1	0	GPR32	55966459	0.011000	0.17503	0.022000	0.16811	0.885000	0.51271	0.071000	0.14594	-0.057000	0.13199	0.313000	0.20887	GCT	GPR32	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000142511		0.597	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	125	0.00	0	G			51274647	51274647	+1	no_errors	ENST00000270590	ensembl	human	known	69_37n	missense	85	33.59	43	SNP	0.416	A
HAUS6	54801	genome.wustl.edu	37	9	19096764	19096764	+	Missense_Mutation	SNP	G	G	C	rs145845392		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr9:19096764G>C	ENST00000380502.3	-	2	599	c.132C>G	c.(130-132)aaC>aaG	p.N44K		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	44					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.N44K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTCAAACATGTTCCTAGTGG	0.308																																						dbGAP											1	Substitution - Missense(1)	breast(1)											40.0	44.0	43.0					9																	19096764		2203	4296	6499	-	-	-	SO:0001583	missense	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.132C>G	9.37:g.19096764G>C	ENSP00000369871:p.Asn44Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.N44K	ENST00000380502.3	37	c.132	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324249	0.60634	.	.	ENSG00000147874	ENST00000380502	T	0.26223	1.75	5.25	3.39	0.38822	.	0.137964	0.64402	D	0.000005	T	0.45816	0.1361	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	T	0.43015	-0.9417	10	0.72032	D	0.01	-4.0427	9.4604	0.38781	0.2389:0.0:0.7611:0.0	.	44	Q7Z4H7	HAUS6_HUMAN	K	44	ENSP00000369871:N44K	ENSP00000369871:N44K	N	-	3	2	HAUS6	19086764	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.616000	0.24344	0.685000	0.31468	0.650000	0.86243	AAC	HAUS6	-	NULL	ENSG00000147874		0.308	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	59	0.00	0	G	NM_017645		19096764	19096764	-1	no_errors	ENST00000380502	ensembl	human	known	69_37n	missense	60	20.00	15	SNP	1.000	C
IFITM1	8519	genome.wustl.edu	37	11	314286	314286	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr11:314286delG	ENST00000408968.3	+	1	434	c.116delG	c.(115-117)tggfs	p.W39fs	IFITM1_ENST00000328221.5_Frame_Shift_Del_p.W39fs|IFITM1_ENST00000528780.1_Frame_Shift_Del_p.W39fs	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	39					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATGTCGTCTGGTCCCTGTTC	0.602																																						dbGAP											0													128.0	135.0	132.0					11																	314286		2043	4190	6233	-	-	-	SO:0001589	frameshift_variant	0			J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.116delG	11.37:g.314286delG	ENSP00000386187:p.Trp39fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15322|Q53XZ0	Frame_Shift_Del	DEL	pfam_Interferon-induced_TM_protein	p.W39fs	ENST00000408968.3	37	c.116	CCDS41584.1	11																																																																																			IFITM1	-	pfam_Interferon-induced_TM_protein	ENSG00000185885		0.602	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFITM1	HGNC	protein_coding	OTTHUMT00000383595.1	58	0.00	0	G	NM_003641		314286	314286	+1	no_errors	ENST00000328221	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
KCNQ2	3785	genome.wustl.edu	37	20	62065225	62065225	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr20:62065225G>A	ENST00000359125.2	-	8	1229	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	KCNQ2_ENST00000354587.3_Missense_Mutation_p.S352L|KCNQ2_ENST00000344425.5_Missense_Mutation_p.S352L|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000370224.1_Missense_Mutation_p.S352L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.S352L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.S352L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.S352L|KCNQ2_ENST00000344462.4_Missense_Mutation_p.S352L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	352					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S352L(3)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTGTGCGCGAGAGGTTGGT	0.672																																						dbGAP											3	Substitution - Missense(3)	breast(2)|biliary_tract(1)											121.0	99.0	107.0					20																	62065225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1055C>T	20.37:g.62065225G>A	ENSP00000352035:p.Ser352Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.S352L	ENST00000359125.2	37	c.1055	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841477	0.91197	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99220	-5.34;-5.49;-5.47;-5.27;-5.5;-5.33;-5.35;-5.41;-5.28;-5.37;-5.58;-5.15	4.93	4.93	0.64822	.	0.365309	0.25975	N	0.027115	D	0.99146	0.9705	M	0.61703	1.905	0.41240	D	0.986639	P;D;D;D;D;D	0.89917	0.953;0.958;1.0;1.0;1.0;1.0	P;B;D;D;D;D	0.91635	0.475;0.407;0.984;0.999;0.975;0.961	D	0.99418	1.0932	10	0.40728	T	0.16	-10.4994	14.6203	0.68579	0.0:0.1463:0.8537:0.0	.	352;352;352;352;352;352	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	L	352	ENSP00000349789:S352L;ENSP00000352035:S352L;ENSP00000359246:S352L;ENSP00000346601:S352L;ENSP00000352718:S352L;ENSP00000399612:S352L;ENSP00000353668:S352L;ENSP00000339611:S352L;ENSP00000359244:S352L;ENSP00000359242:S352L;ENSP00000359241:S352L;ENSP00000345523:S352L	ENSP00000345523:S352L	S	-	2	0	KCNQ2	61535669	0.395000	0.25254	0.852000	0.33557	0.919000	0.55068	2.588000	0.46137	2.305000	0.77605	0.655000	0.94253	TCG	KCNQ2	-	NULL	ENSG00000075043		0.672	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	51	0.00	0	G	NM_172109		62065225	62065225	-1	no_errors	ENST00000354587	ensembl	human	known	69_37n	missense	40	11.11	5	SNP	0.833	A
KGFLP2	654466	genome.wustl.edu	37	9	41962384	41962384	+	lincRNA	SNP	T	T	C	rs200074620		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr9:41962384T>C	ENST00000454645.1	-	0	1120					NR_003670.1																						TAATGCAGTGTCTTAAAACAA	0.294																																						dbGAP											0																																										-	-	-			0																															9.37:g.41962384T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000454645.1	37	NULL		9																																																																																			RP11-204M4.2	-	-	ENSG00000204837		0.294	RP11-204M4.2-001	KNOWN	basic	lincRNA	KGFLP2	Clone_based_vega_gene	lincRNA	OTTHUMT00000143738.1	17	0.00	0	T			41962384	41962384	-1	no_errors	ENST00000454645	ensembl	human	known	69_37n	rna	13	23.53	4	SNP	1.000	C
LEKR1	389170	genome.wustl.edu	37	3	156742606	156742606	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr3:156742606G>A	ENST00000470811.1	+	12	1684	c.349G>A	c.(349-351)Gct>Act	p.A117T	LEKR1_ENST00000356539.4_Missense_Mutation_p.A421T			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	117								p.A421T(1)|p.A117T(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGAAGAGCAAGCTCTTCTCTT	0.338																																						dbGAP											2	Substitution - Missense(2)	breast(2)											66.0	69.0	68.0					3																	156742606		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.349G>A	3.37:g.156742606G>A	ENSP00000418214:p.Ala117Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Ribosomal_L29	p.A421T	ENST00000470811.1	37	c.1261		3	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366986	0.41902	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.45276	0.9;0.9	5.49	3.67	0.42095	.	0.362253	0.23838	N	0.044079	T	0.32912	0.0845	L	0.50919	1.6	0.22199	N	0.99929	B	0.22909	0.077	B	0.23275	0.045	T	0.09862	-1.0655	10	0.16420	T	0.52	-0.3884	9.8054	0.40791	0.1468:0.0:0.8532:0.0	.	117	Q6ZMV7	LEKR1_HUMAN	T	117;421	ENSP00000418214:A117T;ENSP00000348936:A421T	ENSP00000348936:A421T	A	+	1	0	LEKR1	158225300	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.478000	0.35442	2.575000	0.86900	0.462000	0.41574	GCT	LEKR1	-	NULL	ENSG00000178110		0.338	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3	118	0.00	0	G	NM_001004316		156742606	156742606	+1	no_errors	ENST00000356539	ensembl	human	known	69_37n	missense	191	12.73	28	SNP	1.000	A
MAMSTR	284358	genome.wustl.edu	37	19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G	rs373516785		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.486dupC	19.37:g.49218113_49218113dupG	ENSP00000324175:p.Pro162fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKX4|Q3KQU9|Q8N9Y3	Frame_Shift_Ins	INS	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.H163fs	ENST00000318083.6	37	c.486_485	CCDS46137.1	19																																																																																			MAMSTR	-	NULL	ENSG00000176909		0.569	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMSTR	HGNC	protein_coding	OTTHUMT00000466179.1	61	0.00	0	-	NM_182574		49218105	49218106	-1	no_errors	ENST00000318083	ensembl	human	known	69_37n	frame_shift_ins	27	12.90	4	INS	0.043:0.036	G
MFSD4	148808	genome.wustl.edu	37	1	205549057	205549057	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr1:205549057G>A	ENST00000367147.4	+	2	502	c.409G>A	c.(409-411)Gac>Aac	p.D137N	MFSD4_ENST00000539267.1_Missense_Mutation_p.D137N|MFSD4_ENST00000536357.1_Missense_Mutation_p.D137N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	137					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GTACCAGAAGGACTCGGCCGT	0.662																																						dbGAP											0													69.0	56.0	61.0					1																	205549057		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.409G>A	1.37:g.205549057G>A	ENSP00000356115:p.Asp137Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.D137N	ENST00000367147.4	37	c.409	CCDS1455.1	1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514138	0.44763	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80824	0.37;0.37;-1.42	4.18	4.18	0.49190	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	M	0.68593	2.085	0.53688	D	0.999973	D;P;D	0.89917	1.0;0.578;0.996	D;B;D	0.91635	0.999;0.1;0.936	D	0.84197	0.0448	10	0.18276	T	0.48	-22.1708	15.2431	0.73485	0.0:0.0:1.0:0.0	.	82;137;137	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	N	137	ENSP00000356115:D137N;ENSP00000445329:D137N;ENSP00000440183:D137N	ENSP00000356115:D137N	D	+	1	0	MFSD4	203815680	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	7.298000	0.78815	2.173000	0.68751	0.549000	0.68633	GAC	MFSD4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000174514		0.662	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	HGNC	protein_coding	OTTHUMT00000090391.1	42	0.00	0	G	NM_181644		205549057	205549057	+1	no_errors	ENST00000367147	ensembl	human	known	69_37n	missense	12	55.56	15	SNP	1.000	A
MT1A	4489	genome.wustl.edu	37	16	56673227	56673227	+	Missense_Mutation	SNP	C	C	G	rs11640851	byFrequency	TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr16:56673227C>G	ENST00000290705.8	+	2	153	c.80C>G	c.(79-81)aCc>aGc	p.T27S	MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	27	Beta.		T -> N (in dbSNP:rs11640851). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:6327055}.		cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGCAAATGCACCTCCTGCAAG	0.522																																						dbGAP											0			GRCh37	CM087031	MT1A	M	rs11640851						72.0	68.0	69.0					16																	56673227		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731		ENST00000290705.8:c.80C>G	16.37:g.56673227C>G	ENSP00000290705:p.Thr27Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YX5	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.T27S	ENST00000290705.8	37	c.80	CCDS32454.1	16	.	.	.	.	.	.	.	.	.	.	C	5.038	0.192649	0.09599	.	.	ENSG00000205362	ENST00000290705	T	0.09445	2.98	2.93	1.96	0.26148	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000013	T	0.10294	0.0252	.	.	.	0.40304	D	0.978649	P	0.38711	0.643	B	0.39152	0.292	T	0.09662	-1.0664	9	0.62326	D	0.03	.	7.5905	0.28019	0.0:0.8689:0.0:0.1311	.	27	P04731	MT1A_HUMAN	S	27	ENSP00000290705:T27S	ENSP00000290705:T27S	T	+	2	0	MT1A	55230728	0.886000	0.30341	0.839000	0.33178	0.005000	0.04900	1.566000	0.36396	0.552000	0.29026	-0.380000	0.06706	ACC	MT1A	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000205362		0.522	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1A	HGNC	protein_coding	OTTHUMT00000434324.1	56	0.00	0	C	NM_005946		56673227	56673227	+1	no_errors	ENST00000290705	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.976	G
NOTCH3	4854	genome.wustl.edu	37	19	15272363	15272363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr19:15272363G>A	ENST00000263388.2	-	33	6151	c.6076C>T	c.(6076-6078)Caa>Taa	p.Q2026*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2026					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Q2026*(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACTGGGTTGATCCAGCAAG	0.687																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											25.0	26.0	25.0					19																	15272363		2199	4296	6495	-	-	-	SO:0001587	stop_gained	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6076C>T	19.37:g.15272363G>A	ENSP00000263388:p.Gln2026*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.Q2026*	ENST00000263388.2	37	c.6076	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	46	12.294947	0.99654	.	.	ENSG00000074181	ENST00000263388	.	.	.	3.81	2.67	0.31697	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.1951	0.43049	0.0:0.3941:0.6059:0.0	.	.	.	.	X	2026	.	ENSP00000263388:Q2026X	Q	-	1	0	NOTCH3	15133363	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.573000	0.74009	2.142000	0.66516	0.650000	0.86243	CAA	NOTCH3	-	pirsf_Notch	ENSG00000074181		0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	47	0.00	0	G	NM_000435		15272363	15272363	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	nonsense	29	69.15	65	SNP	1.000	A
NR1I2	8856	genome.wustl.edu	37	3	119531721	119531721	+	Silent	SNP	C	C	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr3:119531721C>T	ENST00000337940.4	+	5	873	c.825C>T	c.(823-825)atC>atT	p.I275I	NR1I2_ENST00000466380.1_Silent_p.I199I|NR1I2_ENST00000393716.2_Silent_p.I236I	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	236	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.I275I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GGAAAGAGATCTTCTCCCTGC	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											56.0	57.0	57.0					3																	119531721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.825C>T	3.37:g.119531721C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.I275	ENST00000337940.4	37	c.825	CCDS2995.1	3																																																																																			NR1I2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000144852		0.532	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	79	0.00	0	C			119531721	119531721	+1	no_errors	ENST00000337940	ensembl	human	known	69_37n	silent	23	30.30	10	SNP	0.394	T
TENM1	10178	genome.wustl.edu	37	X	123779072	123779072	+	Silent	SNP	T	T	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chrX:123779072T>A	ENST00000371130.3	-	10	1860	c.1797A>T	c.(1795-1797)ccA>ccT	p.P599P	TENM1_ENST00000422452.2_Silent_p.P599P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	599	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P601P(1)									CAAAGCATGTTGGATCAATGC	0.507																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											239.0	205.0	216.0					X																	123779072		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1797A>T	X.37:g.123779072T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.P599	ENST00000371130.3	37	c.1797	CCDS14609.1	X																																																																																			ODZ1	-	pfam_EGF_extracell,smart_EGF-like,pfscan_EG-like_dom	ENSG00000009694		0.507	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	182	0.00	0	T	NM_014253		123779072	123779072	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	silent	138	17.86	30	SNP	1.000	A
OLFML2B	25903	genome.wustl.edu	37	1	161953618	161953618	+	Silent	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr1:161953618G>A	ENST00000294794.3	-	8	2523	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	OLFML2B_ENST00000367940.2_Silent_p.F701F|OLFML2B_ENST00000367938.1_Silent_p.F183F	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	700	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.F700F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTGGGTGTCGAAAGCGTAGG	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											378.0	351.0	360.0					1																	161953618		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2100C>T	1.37:g.161953618G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	p.F700	ENST00000294794.3	37	c.2100	CCDS1236.1	1																																																																																			OLFML2B	-	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.542	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	522	0.00	0	G	NM_015441		161953618	161953618	-1	no_errors	ENST00000294794	ensembl	human	known	69_37n	silent	184	61.26	291	SNP	0.992	A
OR4A15	81328	genome.wustl.edu	37	11	55135638	55135638	+	Silent	SNP	T	T	C			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr11:55135638T>C	ENST00000314706.3	+	1	279	c.279T>C	c.(277-279)tcT>tcC	p.S93S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTCTGGCTTCTTTATCATTCA	0.428																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											115.0	112.0	113.0					11																	55135638		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.279T>C	11.37:g.55135638T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFL4|Q96R65	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S93	ENST00000314706.3	37	c.279	CCDS31500.1	11																																																																																			OR4A15	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181958		0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	122	0.00	0	T	NM_001005275		55135638	55135638	+1	no_errors	ENST00000314706	ensembl	human	known	69_37n	silent	131	17.09	27	SNP	0.001	C
OR7D4	125958	genome.wustl.edu	37	19	9324863	9324863	+	Silent	SNP	G	G	T	rs8109935	byFrequency	TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr19:9324863G>T	ENST00000308682.2	-	1	679	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCTGAGAGTAGGAGAAGAGGA	0.512																																						dbGAP											0													82.0	77.0	79.0					19																	9324863		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.651C>A	19.37:g.9324863G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S217	ENST00000308682.2	37	c.651	CCDS32901.1	19																																																																																			OR7D4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000174667		0.512	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	HGNC	protein_coding	OTTHUMT00000449004.1	123	0.00	0	G			9324863	9324863	-1	no_errors	ENST00000308682	ensembl	human	known	69_37n	silent	80	25.93	28	SNP	0.934	T
GSAP	54103	genome.wustl.edu	37	7	77006204	77006204	+	Silent	SNP	T	T	C			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr7:77006204T>C	ENST00000257626.7	-	10	780	c.702A>G	c.(700-702)aaA>aaG	p.K234K		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	234					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.K234K(1)									ACTGGATACATTTTAAGATAC	0.303																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											71.0	73.0	73.0					7																	77006204		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.702A>G	7.37:g.77006204T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	NULL	p.K234	ENST00000257626.7	37	c.702	CCDS34672.2	7																																																																																			PION	-	NULL	ENSG00000186088		0.303	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PION	HGNC	protein_coding	OTTHUMT00000318672.2	103	0.00	0	T	NM_017439		77006204	77006204	-1	no_errors	ENST00000257626	ensembl	human	known	69_37n	silent	109	19.26	26	SNP	1.000	C
PMS1	5378	genome.wustl.edu	37	2	190682855	190682855	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr2:190682855G>C	ENST00000441310.2	+	5	764	c.531G>C	c.(529-531)atG>atC	p.M177I	PMS1_ENST00000432292.3_Start_Codon_SNP_p.M1I|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.M177I|PMS1_ENST00000447232.2_Missense_Mutation_p.M177I|PMS1_ENST00000418224.3_Start_Codon_SNP_p.M1I	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	177					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.M177I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ATCTCCTCATGAGCTTTGGTA	0.284			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														dbGAP	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	1	Substitution - Missense(1)	breast(1)											40.0	40.0	40.0					2																	190682855		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.531G>C	2.37:g.190682855G>C	ENSP00000406490:p.Met177Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N	p.M177I	ENST00000441310.2	37	c.531	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	G	4.942	0.175023	0.09391	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000424766;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	T;D;T;T;T;D;D;D	0.96554	-0.69;-2.06;-0.69;-0.69;-0.69;-2.06;-2.52;-4.05	5.36	-0.155	0.13395	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.350989	0.38778	N	0.001580	D	0.85287	0.5662	N	0.04636	-0.2	0.80722	D	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.002;0.001;0.001;0.001	T	0.72418	-0.4300	10	0.08599	T	0.76	-4.4069	6.2516	0.20850	0.4473:0.1426:0.4101:0.0	.	177;177;177;177;1;177;177;177	Q4VAL4;B4DMF4;Q5FBZ4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;.;PMS1_HUMAN	I	1;177;1;177;177;177;1;116;1	ENSP00000406490:M177I;ENSP00000404492:M1I;ENSP00000387125:M177I;ENSP00000410082:M177I;ENSP00000401064:M177I;ENSP00000398378:M1I;ENSP00000389938:M116I;ENSP00000387169:M1I	ENSP00000376149:M1I	M	+	3	0	PMS1	190391100	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	1.474000	0.35398	0.032000	0.15435	-0.225000	0.12378	ATG	PMS1	-	superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N	ENSG00000064933		0.284	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	94	0.00	0	G			190682855	190682855	+1	no_errors	ENST00000441310	ensembl	human	known	69_37n	missense	72	18.18	16	SNP	0.988	C
PPP2R4	5524	genome.wustl.edu	37	9	131897091	131897091	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr9:131897091G>T	ENST00000337738.1	+	7	850	c.583G>T	c.(583-585)Gct>Tct	p.A195S	PPP2R4_ENST00000452489.2_Missense_Mutation_p.A195S|PPP2R4_ENST00000393370.2_Missense_Mutation_p.A160S|PPP2R4_ENST00000357197.4_Missense_Mutation_p.A131S|PPP2R4_ENST00000348141.5_Missense_Mutation_p.A166S|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.A160S|PPP2R4_ENST00000355007.3_Missense_Mutation_p.A118S	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	195					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)	p.A195S(1)		breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGCAGCCTTCGCTGCTTTCCT	0.498																																					Colon(158;2158 2504 4450 20433)	dbGAP											1	Substitution - Missense(1)	breast(1)											114.0	103.0	106.0					9																	131897091		2203	4300	6503	-	-	-	SO:0001583	missense	0			X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.583G>T	9.37:g.131897091G>T	ENSP00000337448:p.Ala195Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	p.A195S	ENST00000337738.1	37	c.583		9	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497915	0.85069	.	.	ENSG00000119383	ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000357197;ENST00000445241;ENST00000355007;ENST00000414331;ENST00000417728;ENST00000453358	T;T;T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.37	5.37	0.77165	.	0.103582	0.64402	D	0.000003	T	0.58075	0.2097	M	0.82716	2.605	0.80722	D	1	D;P;D;D;P;P	0.67145	0.996;0.947;0.979;0.971;0.953;0.884	D;P;D;P;P;P	0.66497	0.942;0.775;0.944;0.797;0.892;0.806	T	0.61912	-0.6965	10	0.56958	D	0.05	-14.4098	16.621	0.84930	0.0:0.0:1.0:0.0	.	118;131;195;118;195;160	B4DLX5;Q15257-3;B4DZF8;Q15257-4;Q15257;Q15257-2	.;.;.;.;PTPA_HUMAN;.	S	160;195;160;195;166;195;131;195;118;123;125;125	ENSP00000351885:A160S;ENSP00000395499:A195S;ENSP00000377036:A160S;ENSP00000337448:A195S;ENSP00000335200:A166S;ENSP00000394338:A195S;ENSP00000349726:A131S;ENSP00000406997:A195S;ENSP00000347109:A118S;ENSP00000399069:A123S;ENSP00000403542:A125S;ENSP00000393092:A125S	ENSP00000337448:A195S	A	+	1	0	PPP2R4	130936912	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.260000	0.95568	2.666000	0.90696	0.561000	0.74099	GCT	PPP2R4	-	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	ENSG00000119383		0.498	PPP2R4-201	KNOWN	basic	protein_coding	PPP2R4	HGNC	protein_coding		75	0.00	0	G	NM_021131		131897091	131897091	+1	no_errors	ENST00000452489	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	1.000	T
PVRL2	5819	genome.wustl.edu	37	19	45381598	45381600	+	Intron	DEL	GAG	GAG	-	rs375813744		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr19:45381598_45381600delGAG	ENST00000252483.5	+	5	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.R391del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGCTgagggtgaggaggaggagg	0.665																																						dbGAP											0									,	4,172,3746		0,0,4,17,138,1802					,	-2.1	1.0			26	34,410,7168		2,1,29,23,363,3388	no	codingComplex,intron	PVRL2	NM_002856.2,NM_001042724.1	,	2,1,33,40,501,5190	A1A1,A1A2,A1R,A2A2,A2R,RR		5.8329,4.4875,5.3754	,	,		38,582,10914				-	-	-	SO:0001627	intron_variant	0			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1042+3863GAG>-	19.37:g.45381607_45381609delGAG		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R391in_frame_del	ENST00000252483.5	37	c.1161_1163	CCDS42576.1	19																																																																																			PVRL2	-	NULL	ENSG00000130202		0.665	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	45	0.00	0	GAG	NM_002856		45381598	45381600	+1	no_errors	ENST00000252485	ensembl	human	known	69_37n	in_frame_del	17	15.00	3	DEL	0.999:1.000:1.000	-
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037864	10037864	+	RNA	SNP	G	G	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chrY:10037864G>A	ENST00000515896.1	+	0	101									RNA, 5.8S ribosomal pseudogene 6																		TCGACACTTCGAACGCACTTG	0.552																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037864G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		13	0.00	0	G			10037864	10037864	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	7	36.36	4	SNP	1.000	A
RNF13	11342	genome.wustl.edu	37	3	149678699	149678699	+	Silent	SNP	C	C	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr3:149678699C>T	ENST00000344229.3	+	11	1656	c.954C>T	c.(952-954)gtC>gtT	p.V318V	RNF13_ENST00000361785.6_Silent_p.V199V|RNF13_ENST00000392894.3_Silent_p.V318V	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	318					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V318V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TAGCTTCTGTCAGTGCCCAGT	0.438																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											100.0	86.0	91.0					3																	149678699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.954C>T	3.37:g.149678699C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC87|B3KR12|Q05D66|Q6IBJ9	Nonsense_Mutation	SNP	NULL	p.Q120*	ENST00000344229.3	37	c.358	CCDS3146.1	3	.	.	.	.	.	.	.	.	.	.	C	8.084	0.773083	0.16051	.	.	ENSG00000082996	ENST00000468289	.	.	.	5.76	1.79	0.24919	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.719	7.0968	0.25315	0.0:0.5359:0.2039:0.2602	.	.	.	.	X	120	.	.	Q	+	1	0	RNF13	151161389	0.846000	0.29590	0.930000	0.37139	0.996000	0.88848	-0.011000	0.12721	0.895000	0.36342	0.650000	0.86243	CAG	RNF13	-	NULL	ENSG00000082996		0.438	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF13	HGNC	protein_coding	OTTHUMT00000356876.1	126	0.00	0	C	NM_183384		149678699	149678699	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000468289	ensembl	human	novel	69_37n	nonsense	146	11.52	19	SNP	0.878	T
SETD1B	23067	genome.wustl.edu	37	12	122242657	122242658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr12:122242657_122242658insC	ENST00000604567.1	+	2	82_83	c.14_15insC	c.(13-18)caccccfs	p.HP5fs	SETD1B_ENST00000542440.1_Frame_Shift_Ins_p.HP5fs|RP11-347I19.8_ENST00000609067.1_lincRNA|RHOF_ENST00000545544.1_5'Flank|SETD1B_ENST00000267197.5_Frame_Shift_Ins_p.HP5fs			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						GAGAACAGTCACCCCCCCCACC	0.629																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)								9,1819		1,7,906						1.9	1.0			42	13,3745		3,7,1869	no	frameshift	SETD1B	NM_015048.1		4,14,2775	A1A1,A1R,RR		0.3459,0.4923,0.3938				22,5564				-	-	-	SO:0001589	frameshift_variant	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.22dupC	12.37:g.122242665_122242665dupC	ENSP00000474253:p.His5fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F6MFW1	Frame_Shift_Ins	INS	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.H8fs	ENST00000604567.1	37	c.14_15		12																																																																																			SETD1B	-	NULL	ENSG00000139718		0.629	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	30	0.00	0	-	XM_037523		122242657	122242658	+1	no_errors	ENST00000267197	ensembl	human	known	69_37n	frame_shift_ins	24	14.29	4	INS	1.000:1.000	C
SFRP1	6422	genome.wustl.edu	37	8	41166389	41166389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr8:41166389C>T	ENST00000220772.3	-	1	627	c.290G>A	c.(289-291)tGg>tAg	p.W97*	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	97	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.W97*(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CAGGGGCACCCAGCTGCTGGC	0.657																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											35.0	38.0	37.0					8																	41166389		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.290G>A	8.37:g.41166389C>T	ENSP00000220772:p.Trp97*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00546|O14779	Nonsense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.W97*	ENST00000220772.3	37	c.290	CCDS34886.1	8	.	.	.	.	.	.	.	.	.	.	C	41	8.716658	0.98927	.	.	ENSG00000104332	ENST00000220772;ENST00000535263	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0674	0.80893	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000220772:W97X	W	-	2	0	SFRP1	41285546	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.242000	0.78210	1.993000	0.58246	0.467000	0.42956	TGG	SFRP1	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000104332		0.657	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP1	HGNC	protein_coding	OTTHUMT00000377132.1	43	0.00	0	C	NM_003012		41166389	41166389	-1	no_errors	ENST00000220772	ensembl	human	known	69_37n	nonsense	19	17.39	4	SNP	1.000	T
SLC12A4	6560	genome.wustl.edu	37	16	67980499	67980500	+	Frame_Shift_Ins	INS	-	-	T	rs528925357		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr16:67980499_67980500insT	ENST00000316341.3	-	18	2418_2419	c.2278_2279insA	c.(2278-2280)ggcfs	p.G760fs	SLC12A4_ENST00000572037.1_Frame_Shift_Ins_p.G712fs|SLC12A4_ENST00000422611.2_Frame_Shift_Ins_p.G762fs|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Frame_Shift_Ins_p.G754fs|SLC12A4_ENST00000338335.3_Intron|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Frame_Shift_Ins_p.G729fs|SLC12A4_ENST00000576616.1_Frame_Shift_Ins_p.G760fs	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	760					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGCAGAAGCCCTTCACCTTC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2278_2279insA	16.37:g.67980499_67980500insT	ENSP00000318557:p.Gly760fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Frame_Shift_Ins	INS	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.G762fs	ENST00000316341.3	37	c.2285_2284	CCDS10855.1	16																																																																																			SLC12A4	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124067		0.619	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	11	0.00	0	-	NM_005072		67980499	67980500	-1	no_errors	ENST00000422611	ensembl	human	known	69_37n	frame_shift_ins	4	63.64	7	INS	1.000:1.000	T
SLC19A2	10560	genome.wustl.edu	37	1	169446469	169446469	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr1:169446469G>T	ENST00000236137.5	-	2	967	c.731C>A	c.(730-732)tCt>tAt	p.S244Y	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	244					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)	p.S244Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	AAGGTGGTTAGAAGCTGGGGT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											98.0	101.0	100.0					1																	169446469		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.731C>A	1.37:g.169446469G>T	ENSP00000236137:p.Ser244Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	p.S244Y	ENST00000236137.5	37	c.731	CCDS1280.1	1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864151	0.32977	.	.	ENSG00000117479	ENST00000236137	D	0.86497	-2.13	5.34	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);	1.297400	0.04832	N	0.438875	T	0.71451	0.3341	L	0.36672	1.1	0.24962	N	0.991728	B	0.33413	0.411	B	0.37508	0.252	T	0.65936	-0.6047	9	0.62326	D	0.03	-1.8224	2.8578	0.05577	0.1139:0.1771:0.5265:0.1825	.	244	O60779	S19A2_HUMAN	Y	244	ENSP00000236137:S244Y	ENSP00000236137:S244Y	S	-	2	0	SLC19A2	167713093	0.116000	0.22171	0.077000	0.20336	0.967000	0.64934	2.178000	0.42519	1.194000	0.43101	0.650000	0.86243	TCT	SLC19A2	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	ENSG00000117479		0.488	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A2	HGNC	protein_coding	OTTHUMT00000086106.1	65	0.00	0	G	NM_006996		169446469	169446469	-1	no_errors	ENST00000236137	ensembl	human	known	69_37n	missense	56	29.11	23	SNP	0.004	T
SMC1A	8243	genome.wustl.edu	37	X	53423505	53423505	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chrX:53423505C>A	ENST00000322213.4	-	17	2722	c.2595G>T	c.(2593-2595)gaG>gaT	p.E865D		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	865					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.E865D(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GAGCCATGGTCTCATCTATGA	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											172.0	129.0	144.0					X																	53423505		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2595G>T	X.37:g.53423505C>A	ENSP00000323421:p.Glu865Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O14995|Q16351|Q2M228	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.E865D	ENST00000322213.4	37	c.2595	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343529	0.41498	.	.	ENSG00000072501	ENST00000322213	T	0.79940	-1.32	5.15	3.34	0.38264	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.35288	1.05	0.80722	D	1	B	0.14438	0.01	B	0.19666	0.026	T	0.65105	-0.6249	10	0.40728	T	0.16	.	10.5744	0.45219	0.0:0.8214:0.0:0.1786	.	865	Q14683	SMC1A_HUMAN	D	865	ENSP00000323421:E865D	ENSP00000323421:E865D	E	-	3	2	SMC1A	53440230	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.565000	0.60836	1.068000	0.40764	0.600000	0.82982	GAG	SMC1A	-	pfam_RecF/RecN/SMC	ENSG00000072501		0.468	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	278	0.36	1	C	NM_006306		53423505	53423505	-1	no_errors	ENST00000322213	ensembl	human	known	69_37n	missense	225	17.28	47	SNP	1.000	A
ST6GALNAC1	55808	genome.wustl.edu	37	17	74623252	74623252	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr17:74623252C>T	ENST00000156626.7	-	4	1268	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	357					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.A357T(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGGCTCCCAGCGGGGAGGCTG	0.627																																						dbGAP											1	Substitution - Missense(1)	breast(1)											55.0	50.0	51.0					17																	74623252		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1069G>A	17.37:g.74623252C>T	ENSP00000156626:p.Ala357Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW90|Q9NSC6	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.A357T	ENST00000156626.7	37	c.1069	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	C	3.129	-0.178852	0.06380	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.22539	1.95;1.95	4.49	-8.34	0.00988	.	1.564180	0.03704	N	0.249134	T	0.07728	0.0194	N	0.11341	0.13	0.09310	N	1	B	0.20550	0.046	B	0.21360	0.034	T	0.24190	-1.0167	10	0.14656	T	0.56	-0.0018	3.0472	0.06158	0.0917:0.2078:0.3716:0.3289	.	357	Q9NSC7	SIA7A_HUMAN	T	357	ENSP00000156626:A357T;ENSP00000351991:A357T	ENSP00000156626:A357T	A	-	1	0	ST6GALNAC1	72134847	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.820000	0.00749	-0.847000	0.04168	-2.013000	0.00436	GCT	ST6GALNAC1	-	pfam_Glyco_trans_29	ENSG00000070526		0.627	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	33	0.00	0	C	NM_018414		74623252	74623252	-1	no_errors	ENST00000156626	ensembl	human	known	69_37n	missense	8	74.19	23	SNP	0.000	T
TMC4	147798	genome.wustl.edu	37	19	54675769	54675769	+	Missense_Mutation	SNP	C	C	T	rs140898828	byFrequency	TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr19:54675769C>T	ENST00000376591.4	-	2	312	c.181G>A	c.(181-183)Gcg>Acg	p.A61T	TMC4_ENST00000301187.4_Missense_Mutation_p.A55T|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	61					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A55T(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCTCCAGCGCCCCCCAAGGC	0.652																																						dbGAP											1	Substitution - Missense(1)	breast(1)											74.0	72.0	73.0					19																	54675769		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.181G>A	19.37:g.54675769C>T	ENSP00000365776:p.Ala61Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.A55T	ENST00000376591.4	37	c.163	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	c	13.21	2.168829	0.38315	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.72942	-0.7;-0.69	4.09	-5.31	0.02730	.	5.752200	0.00970	N	0.003227	T	0.48314	0.1493	N	0.25647	0.755	0.09310	N	1	B;B	0.16166	0.0;0.016	B;B	0.17098	0.002;0.017	T	0.26849	-1.0091	10	0.12766	T	0.61	0.105	0.2487	0.00202	0.2925:0.2809:0.1444:0.2822	.	61;55	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	T	55;61	ENSP00000301187:A55T;ENSP00000365776:A61T	ENSP00000301187:A55T	A	-	1	0	TMC4	59367581	0.000000	0.05858	0.039000	0.18376	0.921000	0.55340	-0.164000	0.09983	-0.607000	0.05738	0.369000	0.22263	GCG	TMC4	-	NULL	ENSG00000167608		0.652	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	126	0.79	1	C			54675769	54675769	-1	no_errors	ENST00000301187	ensembl	human	known	69_37n	missense	112	19.42	27	SNP	0.013	T
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"""	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132.0	118.0	123.0					17																	7578212		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	486	0.00	0	G	NM_000546		7578212	7578212	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	159	54.96	194	SNP	0.893	A
TRIM9	114088	genome.wustl.edu	37	14	51444032	51444032	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr14:51444032A>T	ENST00000298355.3	-	10	3231	c.2110T>A	c.(2110-2112)Tcc>Acc	p.S704T		NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	704					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S704T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTCTGCTGGAGTAGAAGTCG	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											124.0	101.0	109.0					14																	51444032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.2110T>A	14.37:g.51444032A>T	ENSP00000298355:p.Ser704Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.S704T	ENST00000298355.3	37	c.2110	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313352	0.23908	.	.	ENSG00000100505	ENST00000298355	T	0.67865	-0.29	5.65	5.65	0.86999	.	.	.	.	.	T	0.36054	0.0953	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36163	-0.9759	9	0.10636	T	0.68	.	10.2732	0.43495	0.8209:0.1791:0.0:0.0	.	704	Q9C026	TRIM9_HUMAN	T	704	ENSP00000298355:S704T	ENSP00000298355:S704T	S	-	1	0	TRIM9	50513782	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.744000	0.38268	2.154000	0.67381	0.528000	0.53228	TCC	TRIM9	-	NULL	ENSG00000100505		0.607	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	226	0.00	0	A	NM_015163		51444032	51444032	-1	no_errors	ENST00000298355	ensembl	human	known	69_37n	missense	72	10.00	8	SNP	1.000	T
TRPC6	7225	genome.wustl.edu	37	11	101344347	101344347	+	Silent	SNP	G	G	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr11:101344347G>T	ENST00000344327.3	-	7	2326	c.1902C>A	c.(1900-1902)atC>atA	p.I634I	TRPC6_ENST00000348423.4_Silent_p.I518I|TRPC6_ENST00000532133.1_Silent_p.I556I|TRPC6_ENST00000360497.4_Silent_p.I579I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	634					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.I634I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGAACTTGAAGATGTCTTTGA	0.363																																					Colon(166;1315 1927 11094 12848 34731)	dbGAP											1	Substitution - coding silent(1)	breast(1)											102.0	97.0	99.0					11																	101344347		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1902C>A	11.37:g.101344347G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	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,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.I634	ENST00000344327.3	37	c.1902	CCDS8311.1	11																																																																																			TRPC6	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel	ENSG00000137672		0.363	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	224	0.00	0	G	NM_004621		101344347	101344347	-1	no_errors	ENST00000344327	ensembl	human	known	69_37n	silent	207	21.59	57	SNP	1.000	T
TRPC7	57113	genome.wustl.edu	37	5	135561796	135561796	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr5:135561796T>G	ENST00000513104.1	-	9	2470	c.2188A>C	c.(2188-2190)Ata>Cta	p.I730L	TRPC7_ENST00000355180.3_Missense_Mutation_p.I669L|TRPC7_ENST00000426057.2_Missense_Mutation_p.I614L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	730					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I730L(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGAGTTTTATGAGGCACATC	0.378																																						dbGAP											2	Substitution - Missense(2)	breast(2)											80.0	73.0	75.0					5																	135561796		1878	4097	5975	-	-	-	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2188A>C	5.37:g.135561796T>G	ENSP00000426070:p.Ile730Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.I730L	ENST00000513104.1	37	c.2188	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.85|10.85	1.466728|1.466728	0.26335|0.26335	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|D;D;D	.|0.82081	.|-1.57;-1.57;-1.57	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.051674	.|0.85682	.|D	.|0.000000	T|T	0.74215|0.74215	0.3687|0.3687	L|L	0.36672|0.36672	1.1|1.1	0.33618|0.33618	D|D	0.604472|0.604472	.|B;B;B;B	.|0.06786	.|0.001;0.0;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.002;0.0;0.001;0.001	T|T	0.72147|0.72147	-0.4378|-0.4378	5|10	.|0.11182	.|T	.|0.66	-16.7814|-16.7814	14.8563|14.8563	0.70341|0.70341	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|614;669;675;730	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	P|L	613;668;674|669;614;730;730	.|ENSP00000347312:I669L;ENSP00000441628:I614L;ENSP00000426070:I730L	.|ENSP00000265193:I730L	H|I	-|-	2|1	0|0	TRPC7|TRPC7	135589695|135589695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.521000|3.521000	0.53472|0.53472	2.094000|2.094000	0.63399|0.63399	0.482000|0.482000	0.46254|0.46254	CAT|ATA	TRPC7	-	prints_TRPC7_channel,tigrfam_TRP_channel	ENSG00000069018		0.378	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	109	0.00	0	T	NM_020389		135561796	135561796	-1	no_errors	ENST00000513104	ensembl	human	known	69_37n	missense	74	20.43	19	SNP	1.000	G
UCK2	7371	genome.wustl.edu	37	1	165872483	165872483	+	Silent	SNP	C	C	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr1:165872483C>T	ENST00000367879.4	+	5	867	c.564C>T	c.(562-564)ttC>ttT	p.F188F	RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000469256.2_Silent_p.F38F|UCK2_ENST00000470820.1_Silent_p.F38F|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	188					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)	p.F188F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ACATTACGTTCGTCAAGCCTG	0.383																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											252.0	214.0	227.0					1																	165872483		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.564C>T	1.37:g.165872483C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Silent	SNP	pfam_PRK/URK,pfam_Depp_CoAkinase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.F188	ENST00000367879.4	37	c.564	CCDS1252.1	1																																																																																			UCK2	-	pfam_PRK/URK,tigrfam_Uridine_kinase	ENSG00000143179		0.383	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK2	HGNC	protein_coding	OTTHUMT00000096753.1	432	0.23	1	C	NM_012474		165872483	165872483	+1	no_errors	ENST00000367879	ensembl	human	known	69_37n	silent	379	14.25	63	SNP	1.000	T
VPRBP	9730	genome.wustl.edu	37	3	51458151	51458151	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr3:51458151G>T	ENST00000335891.5	-	7	935	c.926C>A	c.(925-927)gCc>gAc	p.A309D				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	758	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.A762D(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGCTTTGCAGGCCAGGGCCCG	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											135.0	131.0	132.0					3																	51458151		1986	4162	6148	-	-	-	SO:0001583	missense	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.926C>A	3.37:g.51458151G>T	ENSP00000338857:p.Ala309Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.A309D	ENST00000335891.5	37	c.926		3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205120	0.79127	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.72394	-0.65;-0.65	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.87195	0.2237	10	0.87932	D	0	-12.8895	20.0989	0.97860	0.0:0.0:1.0:0.0	.	758	Q9Y4B6	VPRBP_HUMAN	D	329;309	ENSP00000393183:A329D;ENSP00000338857:A309D	ENSP00000338857:A309D	A	-	2	0	VPRBP	51433191	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.199000	0.95003	2.764000	0.94973	0.650000	0.86243	GCC	VPRBP	-	superfamily_ARM-type_fold	ENSG00000145041		0.542	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		182	0.00	0	G	NM_014703		51458151	51458151	-1	no_errors	ENST00000335891	ensembl	human	known	69_37n	missense	79	18.56	18	SNP	1.000	T
XKR9	389668	genome.wustl.edu	37	8	71593433	71593433	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr8:71593433T>G	ENST00000408926.3	+	3	674	c.140T>G	c.(139-141)tTt>tGt	p.F47C	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.F47C	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	47						integral component of membrane (GO:0016021)		p.F47C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GCGTTAAGCTTTATGCTTTTT	0.358																																						dbGAP											1	Substitution - Missense(1)	breast(1)											273.0	269.0	270.0					8																	71593433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.140T>G	8.37:g.71593433T>G	ENSP00000386141:p.Phe47Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS9|B9EH74	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.F47C	ENST00000408926.3	37	c.140	CCDS34905.1	8	.	.	.	.	.	.	.	.	.	.	T	18.22	3.574694	0.65878	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.70516	-0.49;-0.49;-0.49	5.61	4.44	0.53790	.	0.053233	0.85682	D	0.000000	D	0.82453	0.5040	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.82420	-0.0466	10	0.59425	D	0.04	-16.0173	9.0787	0.36538	0.0:0.0844:0.0:0.9156	.	47	Q5GH70	XKR9_HUMAN	C	47	ENSP00000386141:F47C;ENSP00000431088:F47C;ENSP00000428904:F47C	ENSP00000386141:F47C	F	+	2	0	XKR9	71755987	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.319000	0.43788	0.945000	0.37605	0.477000	0.44152	TTT	XKR9	-	pfam_Transport_prot_XK	ENSG00000221947		0.358	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR9	HGNC	protein_coding	OTTHUMT00000378752.1	241	0.00	0	T	NM_001011720		71593433	71593433	+1	no_errors	ENST00000408926	ensembl	human	known	69_37n	missense	231	27.36	87	SNP	1.000	G
ZC3H15	55854	genome.wustl.edu	37	2	187351168	187351170	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr2:187351168_187351170delAGG	ENST00000337859.6	+	1	286_288	c.59_61delAGG	c.(58-63)aaggag>aag	p.E21del	ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	21					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E21delE(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAAAAAAAGAAGGAGAAGATTAT	0.631																																						dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.59_61delAGG	2.37:g.187351168_187351170delAGG	ENSP00000338788:p.Glu21del	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	In_Frame_Del	DEL	pfam_Znf_CCCH,smart_Znf_CCCH	p.E21in_frame_del	ENST00000337859.6	37	c.59_61	CCDS42791.1	2																																																																																			ZC3H15	-	NULL	ENSG00000065548		0.631	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	HGNC	protein_coding	OTTHUMT00000334547.2	75	0.00	0	AGG	NM_018471		187351168	187351170	+1	no_errors	ENST00000337859	ensembl	human	known	69_37n	in_frame_del	83	10.75	10	DEL	1.000:1.000:1.000	-
ZNF462	58499	genome.wustl.edu	37	9	109685755	109685755	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IQ-01A-11W-A050-09	TCGA-B6-A0IQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	583964cf-84ad-4ef1-90d1-2f6bfbeb245a	3f199ef5-ce92-487f-bf42-e16e986dc62c	g.chr9:109685755C>G	ENST00000277225.5	+	2	380	c.91C>G	c.(91-93)Ctg>Gtg	p.L31V	ZNF462_ENST00000457913.1_Missense_Mutation_p.L31V|RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.L31V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	31					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L31V(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACGGCATTTCTGCAGCCAAC	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											236.0	212.0	220.0					9																	109685755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.91C>G	9.37:g.109685755C>G	ENSP00000277225:p.Leu31Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L31V	ENST00000277225.5	37	c.91	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161739	0.38119	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.13901	2.55;3.04	5.93	3.76	0.43208	.	0.000000	0.64402	D	0.000001	T	0.22282	0.0537	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.01884	-1.1254	10	0.87932	D	0	.	10.5585	0.45131	0.0:0.7689:0.0:0.2311	.	31	Q96JM2	ZN462_HUMAN	V	31	ENSP00000277225:L31V;ENSP00000414570:L31V	ENSP00000277225:L31V	L	+	1	2	ZNF462	108725576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.092000	0.30927	1.490000	0.48466	0.561000	0.74099	CTG	ZNF462	-	NULL	ENSG00000148143		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	458	0.00	0	C	NM_021224		109685755	109685755	+1	no_errors	ENST00000457913	ensembl	human	known	69_37n	missense	300	14.29	50	SNP	1.000	G
