#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADCY10	55811	genome.wustl.edu	37	1	167779063	167779063	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:167779063G>C	ENST00000367851.4	-	33	4869	c.4685C>G	c.(4684-4686)tCa>tGa	p.S1562*	ADCY10_ENST00000545172.1_Nonsense_Mutation_p.S1409*|ADCY10_ENST00000367848.1_Nonsense_Mutation_p.S1470*	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1562					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTCAGAGGTTGAGTACCATGA	0.388																																																	0													101.0	94.0	96.0					1																	167779063		2203	4300	6503	SO:0001587	stop_gained	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4685C>G	1.37:g.167779063G>C	ENSP00000356825:p.Ser1562*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Nonsense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.S1562*	ENST00000367851.4	37	c.4685	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.143664	0.99080	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	.	.	.	5.54	5.54	0.83059	.	0.150158	0.31495	N	0.007543	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.2329	14.9801	0.71306	0.0:0.0:1.0:0.0	.	.	.	.	X	1409;1562;1470	.	ENSP00000356822:S1470X	S	-	2	0	ADCY10	166045687	0.987000	0.35691	0.943000	0.38184	0.056000	0.15407	2.211000	0.42825	2.606000	0.88127	0.655000	0.94253	TCA	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.388	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167779063	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	nonsense	SNP	0.981	C
AIM1	202	genome.wustl.edu	37	6	106967421	106967421	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:106967421C>G	ENST00000369066.3	+	2	1601	c.1114C>G	c.(1114-1116)Cag>Gag	p.Q372E		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)				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)		TCTTGGTCCTCAGCCTAACCA	0.453																																																	0													92.0	102.0	99.0					6																	106967421		2203	4300	6503	SO:0001583	missense	202			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.1114C>G	6.37:g.106967421C>G	ENSP00000358062:p.Gln372Glu	Somatic		WXS	Illumina HiSeq	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.Q372E	ENST00000369066.3	37	c.1114	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	C	9.818	1.184920	0.21870	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71222	-0.55	4.72	3.83	0.44106	.	1.302790	0.05443	N	0.548014	T	0.34978	0.0916	N	0.24115	0.695	0.39816	D	0.972775	B	0.06786	0.001	B	0.06405	0.002	T	0.09207	-1.0685	10	0.02654	T	1	.	13.0023	0.58683	0.0:0.8315:0.1685:0.0	.	372	Q9Y4K1	AIM1_HUMAN	E	780;372	ENSP00000358062:Q372E	ENSP00000285105:Q780E	Q	+	1	0	AIM1	107074114	0.051000	0.20477	0.062000	0.19696	0.046000	0.14306	2.853000	0.48317	1.169000	0.42739	0.655000	0.94253	CAG	AIM1	-	NULL		0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	C			106967421	+1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	0.073	G
AK5	26289	genome.wustl.edu	37	1	77952004	77952004	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:77952004G>T	ENST00000354567.2	+	10	1377	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	AK5_ENST00000344720.5_Missense_Mutation_p.D346Y	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	372					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTTCATGGAAGATTTGAGAAA	0.308																																																	0													39.0	41.0	41.0					1																	77952004		2200	4299	6499	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1114G>T	1.37:g.77952004G>T	ENSP00000346577:p.Asp372Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.D372Y	ENST00000354567.2	37	c.1114	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187482	0.38609	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.74947	-0.89;-0.89	4.29	4.29	0.51040	.	0.234455	0.33772	N	0.004579	T	0.46308	0.1386	N	0.19112	0.55	0.80722	D	1	P	0.38565	0.637	B	0.33521	0.165	T	0.61068	-0.7137	10	0.72032	D	0.01	0.0802	12.5368	0.56145	0.0:0.0:1.0:0.0	.	372	Q9Y6K8	KAD5_HUMAN	Y	372;346	ENSP00000346577:D372Y;ENSP00000341430:D346Y	ENSP00000341430:D346Y	D	+	1	0	AK5	77724592	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	3.795000	0.55499	2.682000	0.91365	0.650000	0.86243	GAT	AK5	-	NULL		0.308	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	G	NM_174858		77952004	+1	no_errors	ENST00000354567	ensembl	human	known	70_37	missense	SNP	1.000	T
AKAP13	11214	genome.wustl.edu	37	15	86123894	86123894	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:86123894C>T	ENST00000394518.2	+	7	2690	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.L865L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	865					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATACCAGTCTCACAGGACTTG	0.567																																					Melanoma(94;603 1453 3280 32295 32951)												0													67.0	69.0	68.0					15																	86123894		2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2595C>T	15.37:g.86123894C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.L865	ENST00000394518.2	37	c.2595	CCDS32319.1	15																																																																																			AKAP13	-	NULL		0.567	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86123894	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	silent	SNP	0.001	T
AK9	221264	genome.wustl.edu	37	6	109935385	109935385	+	Splice_Site	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:109935385C>T	ENST00000424296.2	-	15	1686		c.e15+1		AK9_ENST00000368948.2_Splice_Site|AK9_ENST00000341338.6_Splice_Site	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CACTTTGTTACCATCTTTATC	0.363																																																	0													137.0	102.0	112.0					6																	109935385		692	1591	2283	SO:0001630	splice_region_variant	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1609+1G>A	6.37:g.109935385C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Splice_Site	SNP	-	e14+1	ENST00000424296.2	37	c.1609+1	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	3.865	-0.029094	0.07589	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	.	.	.	2.99	0.0362	0.14191	.	.	.	.	.	.	.	.	.	.	.	0.34820	D	0.738619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0467	0.14487	0.0:0.4482:0.424:0.1278	.	.	.	.	.	-1	.	.	.	-	.	.	AKD1	110042078	0.919000	0.31177	0.073000	0.20177	0.023000	0.10783	0.143000	0.16115	-0.018000	0.14079	-0.878000	0.02970	.	AKD1	-	-		0.363	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128	Intron	109935385	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	splice_site	SNP	0.115	T
AKR1C2	1646	genome.wustl.edu	37	10	5040883	5040883	+	Missense_Mutation	SNP	G	G	C	rs141584971		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:5040883G>C	ENST00000380753.4	-	5	691	c.504C>G	c.(502-504)ttC>ttG	p.F168L	RP11-499O7.7_ENST00000440414.1_RNA|AKR1C2_ENST00000421196.3_Missense_Mutation_p.F142L|AKR1C2_ENST00000407674.1_Missense_Mutation_p.F168L|RP11-499O7.7_ENST00000451575.2_RNA	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	168					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	GCCTGTGGTTGAAGTTGGACA	0.517																																																	0													165.0	140.0	148.0					10																	5040883		2203	4300	6503	SO:0001583	missense	1646			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.504C>G	10.37:g.5040883G>C	ENSP00000370129:p.Phe168Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.F168L	ENST00000380753.4	37	c.504	CCDS7062.1	10	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306044	0.40795	.	.	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674	T;T;T	0.55234	0.53;0.53;0.53	2.65	-3.98	0.04082	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000003	T	0.71576	0.3356	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72858	-0.4165	10	0.87932	D	0	.	10.3785	0.44096	0.239:0.0:0.761:0.0	.	142;168	B4DK69;P52895	.;AK1C2_HUMAN	L	168;142;168	ENSP00000370129:F168L;ENSP00000392694:F142L;ENSP00000385221:F168L	ENSP00000370129:F168L	F	-	3	2	AKR1C2	5030883	1.000000	0.71417	0.940000	0.37924	0.301000	0.27625	0.680000	0.25306	-1.001000	0.03434	-0.481000	0.04817	TTC	AKR1C2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.517	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C2	HGNC	protein_coding	OTTHUMT00000046531.1	G	NM_001354		5040883	-1	no_errors	ENST00000380753	ensembl	human	known	70_37	missense	SNP	0.988	C
APCS	325	genome.wustl.edu	37	1	159558217	159558217	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:159558217A>G	ENST00000255040.2	+	2	488	c.391A>G	c.(391-393)Aca>Gca	p.T131A		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	131	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GATCAATGGGACACCTTTGGT	0.483																																																	0													77.0	77.0	77.0					1																	159558217		2203	4300	6503	SO:0001583	missense	325				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.391A>G	1.37:g.159558217A>G	ENSP00000255040:p.Thr131Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.T131A	ENST00000255040.2	37	c.391	CCDS1186.1	1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430881	0.25726	.	.	ENSG00000132703	ENST00000255040	T	0.63096	-0.02	4.14	4.14	0.48551	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.349614	0.28748	N	0.014273	T	0.24851	0.0603	N	0.11201	0.11	0.22253	N	0.999255	B	0.10296	0.003	B	0.15484	0.013	T	0.24119	-1.0169	10	0.72032	D	0.01	-11.8154	11.4351	0.50064	1.0:0.0:0.0:0.0	.	131	P02743	SAMP_HUMAN	A	131	ENSP00000255040:T131A	ENSP00000255040:T131A	T	+	1	0	APCS	157824841	1.000000	0.71417	0.844000	0.33320	0.257000	0.26127	4.932000	0.63476	1.851000	0.53745	0.533000	0.62120	ACA	APCS	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.483	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	HGNC	protein_coding	OTTHUMT00000059024.2	A	NM_001639		159558217	+1	no_errors	ENST00000255040	ensembl	human	known	70_37	missense	SNP	0.993	G
AKT3	10000	genome.wustl.edu	37	1	243777040	243777040	+	Splice_Site	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:243777040G>A	ENST00000366539.1	-	8	829	c.629C>T	c.(628-630)tCc>tTc	p.S210F	AKT3_ENST00000263826.5_Splice_Site_p.S210F|AKT3_ENST00000366540.1_Splice_Site_p.S210F|AKT3_ENST00000336199.5_Splice_Site_p.S210F|AKT3_ENST00000492957.1_5'UTR			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ATATTTCAAGGACTTGAAATA	0.299																																																	0													39.0	41.0	40.0					1																	243777040		2203	4296	6499	SO:0001630	splice_region_variant	10000			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.628-1C>T	1.37:g.243777040G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.S210F	ENST00000366539.1	37	c.629	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380949	0.82792	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056888	0.64402	D	0.000001	T	0.29882	0.0747	L	0.43646	1.37	0.80722	D	1	B;P	0.36110	0.259;0.537	B;B	0.39771	0.285;0.309	T	0.04255	-1.0965	10	0.72032	D	0.01	.	17.5625	0.87911	0.0:0.0:1.0:0.0	.	210;210	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	F	210	ENSP00000336943:S210F;ENSP00000355498:S210F;ENSP00000355497:S210F;ENSP00000263826:S210F	ENSP00000263826:S210F	S	-	2	0	AKT3	241843663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.495000	0.90481	2.663000	0.90544	0.557000	0.71058	TCC	AKT3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.299	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	G	NM_181690	Missense_Mutation	243777040	-1	no_errors	ENST00000263826	ensembl	human	known	70_37	missense	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21246399	21246399	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:21246399T>C	ENST00000233242.1	-	17	2729	c.2602A>G	c.(2602-2604)Aac>Gac	p.N868D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	868					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCTTACGTTGGCTACTTCC	0.403																																																	0													110.0	104.0	106.0					2																	21246399		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2602A>G	2.37:g.21246399T>C	ENSP00000233242:p.Asn868Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.N868D	ENST00000233242.1	37	c.2602	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	6.956	0.546316	0.13312	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.14022	2.54	5.35	-1.59	0.08453	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.565142	0.17890	N	0.158558	T	0.07098	0.0180	N	0.25890	0.77	0.09310	N	0.999996	B	0.06786	0.001	B	0.09377	0.004	T	0.36553	-0.9743	10	0.20519	T	0.43	.	6.1393	0.20251	0.0:0.1946:0.2276:0.5779	.	868	P04114	APOB_HUMAN	D	868	ENSP00000233242:N868D	ENSP00000233242:N868D	N	-	1	0	APOB	21099904	0.962000	0.33011	0.000000	0.03702	0.228000	0.25075	1.933000	0.40153	-0.153000	0.11137	0.533000	0.62120	AAC	APOB	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	T			21246399	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	C
ARHGEF7	8874	genome.wustl.edu	37	13	111870159	111870159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr13:111870159G>A	ENST00000375741.2	+	6	915	c.665G>A	c.(664-666)tGg>tAg	p.W222*	ARHGEF7_ENST00000375736.4_Nonsense_Mutation_p.W44*|ARHGEF7_ENST00000375737.5_Nonsense_Mutation_p.W119*|ARHGEF7_ENST00000218789.5_Nonsense_Mutation_p.W44*|ARHGEF7_ENST00000426073.2_Nonsense_Mutation_p.W44*|ARHGEF7_ENST00000375723.1_Nonsense_Mutation_p.W44*|ARHGEF7_ENST00000375739.2_Nonsense_Mutation_p.W172*|ARHGEF7_ENST00000317133.5_Nonsense_Mutation_p.W201*|ARHGEF7_ENST00000370623.3_Nonsense_Mutation_p.W129*|ARHGEF7_ENST00000544132.1_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	222	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGAGGCTGGTGGGAGGGCACA	0.587																																																	0													84.0	78.0	80.0					13																	111870159		2203	4300	6503	SO:0001587	stop_gained	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.665G>A	13.37:g.111870159G>A	ENSP00000364893:p.Trp222*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.W222*	ENST00000375741.2	37	c.665	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	G	40	7.987706	0.98596	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2835	0.90105	0.0:0.0:1.0:0.0	.	.	.	.	X	201;222;172;44;129;199;44;44;44;44;44;119;119;44	.	ENSP00000218789:W44X	W	+	2	0	ARHGEF7	110668160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.326000	0.96389	2.366000	0.80165	0.655000	0.94253	TGG	ARHGEF7	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.587	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		G	NM_001113511		111870159	+1	no_errors	ENST00000375741	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ATF7IP	55729	genome.wustl.edu	37	12	14577801	14577802	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:14577801_14577802insA	ENST00000540793.1	+	1	1107_1108	c.952_953insA	c.(952-954)gaafs	p.E318fs	ATF7IP_ENST00000543189.1_Frame_Shift_Ins_p.E318fs|ATF7IP_ENST00000536444.1_Frame_Shift_Ins_p.E318fs|ATF7IP_ENST00000544627.1_Frame_Shift_Ins_p.E326fs|ATF7IP_ENST00000261168.4_Frame_Shift_Ins_p.E318fs|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	318					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGATTTTCTTGAAAAAAATGGA	0.317																																																	0																																										SO:0001589	frameshift_variant	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.959dupA	12.37:g.14577808_14577808dupA	ENSP00000444589:p.Glu318fs	Somatic		WXS	Illumina HiSeq	Phase_IV	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Frame_Shift_Ins	INS	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.N320fs	ENST00000540793.1	37	c.952_953	CCDS8663.1	12																																																																																			ATF7IP	-	NULL		0.317	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	-	NM_018179		14577802	+1	no_errors	ENST00000261168	ensembl	human	known	70_37	frame_shift_ins	INS	0.416:0.322	A
ATR	545	genome.wustl.edu	37	3	142272219	142272219	+	Silent	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:142272219T>C	ENST00000350721.4	-	13	2776	c.2655A>G	c.(2653-2655)gtA>gtG	p.V885V	ATR_ENST00000383101.3_Silent_p.V821V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	885					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTGCAAATGGTACCAAATCTC	0.383								Other conserved DNA damage response genes																																									0													61.0	60.0	60.0					3																	142272219		2203	4300	6503	SO:0001819	synonymous_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2655A>G	3.37:g.142272219T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.V885	ENST00000350721.4	37	c.2655	CCDS3124.1	3																																																																																			ATR	-	superfamily_ARM-type_fold		0.383	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	T	NM_001184		142272219	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	silent	SNP	1.000	C
BAZ1B	9031	genome.wustl.edu	37	7	72861622	72861623	+	In_Frame_Ins	INS	-	-	TCC	rs551016129		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:72861622_72861623insTCC	ENST00000339594.4	-	16	4153_4154	c.3815_3816insGGA	c.(3814-3816)gaa>gaGGAa	p.1272_1272E>EE	BAZ1B_ENST00000404251.1_In_Frame_Ins_p.1272_1272E>EE	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1272	Poly-Glu.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATAAtcttcttcctcctcctc	0.45																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0																																										SO:0001652	inframe_insertion	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3813_3815dupGGA	7.37:g.72861629_72861631dupTCC	ENSP00000342434:p.Glu1273dup	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	In_Frame_Ins	INS	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.1274in_frame_insE	ENST00000339594.4	37	c.3816_3815	CCDS5549.1	7																																																																																			BAZ1B	-	superfamily_ARM-type_fold		0.450	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	-	NM_032408		72861623	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	in_frame_ins	INS	0.614:0.989	TCC
BET1	10282	genome.wustl.edu	37	7	93605249	93605249	+	5'UTR	SNP	C	C	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:93605249C>A	ENST00000471446.1	-	0	220				AC006378.2_ENST00000426634.1_RNA|AC006378.2_ENST00000426193.2_RNA			O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)|vesicle fusion with Golgi apparatus (GO:0048280)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			GCTTCAGAGTCATTATTTTGA	0.338																																																	0																																										SO:0001623	5_prime_UTR_variant	10282			AF007551	CCDS5635.1	7q21.1-q22	2013-03-08	2013-03-08		ENSG00000105829	ENSG00000105829			14562	protein-coding gene	gene with protein product	"""Golgi vesicular membrane trafficking protein p18"", ""Bet1p homolog"""	605456	"""Bet1 (S. cerevisiae) homolog"", ""BET1 homolog (S. cerevisiae)"", ""blocked early in transport 1 homolog (S. cerevisiae)"""			9382863, 10449330	Standard	XM_005250109		Approved	hbet1	uc003unf.1	O15155	OTTHUMG00000023487	ENST00000471446.1:c.-315G>T	7.37:g.93605249C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96EA0	RNA	SNP	-	NULL	ENST00000471446.1	37	NULL		7																																																																																			BET1	-	-		0.338	BET1-006	KNOWN	basic	processed_transcript	BET1	HGNC	protein_coding	OTTHUMT00000341560.1	C	NM_005868		93605249	-1	no_errors	ENST00000471446	ensembl	human	known	70_37	rna	SNP	0.100	A
C12orf42	374470	genome.wustl.edu	37	12	103696329	103696329	+	Missense_Mutation	SNP	C	C	T	rs369075296		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:103696329C>T	ENST00000378113.2	-	6	865	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	C12orf42_ENST00000548883.1_Missense_Mutation_p.A214T|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Missense_Mutation_p.A147T	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	214										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GAAGGTCTGGCGGCAGAACCT	0.642																																																	0													24.0	27.0	26.0					12																	103696329		1978	4150	6128	SO:0001583	missense	374470			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.640G>A	12.37:g.103696329C>T	ENSP00000367353:p.Ala214Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49A64|Q4G0S2	Missense_Mutation	SNP	NULL	p.A214T	ENST00000378113.2	37	c.640	CCDS44963.1	12	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614359	0.46631	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.54866	0.55;0.55;0.55	4.24	-8.48	0.00935	.	3.946800	0.01078	N	0.004924	T	0.32224	0.0822	N	0.24115	0.695	0.09310	N	1	B	0.24618	0.107	B	0.13407	0.009	T	0.11227	-1.0596	10	0.33940	T	0.23	8.4401	6.3779	0.21517	0.0842:0.1132:0.5153:0.2873	.	214	Q96LP6	CL042_HUMAN	T	214;147;214	ENSP00000447908:A214T;ENSP00000449362:A147T;ENSP00000367353:A214T	ENSP00000367353:A214T	A	-	1	0	C12orf42	102220459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.243000	0.01194	-2.145000	0.00801	-1.051000	0.02340	GCC	C12orf42	-	NULL		0.642	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	HGNC	protein_coding	OTTHUMT00000406754.1	C	NM_198521		103696329	-1	no_errors	ENST00000378113	ensembl	human	known	70_37	missense	SNP	0.000	T
C14orf39	317761	genome.wustl.edu	37	14	60945082	60945082	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr14:60945082G>A	ENST00000321731.3	-	5	418	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	87					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCATGTTTACGAAAAACATCA	0.269																																																	0													66.0	65.0	66.0					14																	60945082		2201	4297	6498	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.259C>T	14.37:g.60945082G>A	ENSP00000324920:p.Arg87Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AQ4	Missense_Mutation	SNP	NULL	p.R87C	ENST00000321731.3	37	c.259	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739147	0.30774	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.46063	1.9;0.88	5.56	3.71	0.42584	.	0.424204	0.24945	N	0.034343	T	0.26048	0.0635	N	0.22421	0.69	0.25241	N	0.989758	D	0.54964	0.969	B	0.43123	0.409	T	0.10245	-1.0638	10	0.44086	T	0.13	-3.7283	4.8447	0.13507	0.1734:0.0:0.6546:0.172	.	87	Q8N1H7	S6OS1_HUMAN	C	87;58;87	ENSP00000324920:R87C;ENSP00000451665:R58C	ENSP00000324920:R87C	R	-	1	0	C14orf39	60014835	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.320000	0.43797	1.490000	0.48466	-0.142000	0.14014	CGT	C14orf39	-	NULL		0.269	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	G	NM_174978		60945082	-1	no_errors	ENST00000321731	ensembl	human	known	70_37	missense	SNP	1.000	A
CACHD1	57685	genome.wustl.edu	37	1	65117933	65117933	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:65117933G>A	ENST00000371073.2	+	10	1480	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	CACHD1_ENST00000290039.5_Missense_Mutation_p.E443K|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	494	Cache 1.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTACATTCTTGAAGACGTGAC	0.373																																																	0													217.0	186.0	196.0					1																	65117933		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1480G>A	1.37:g.65117933G>A	ENSP00000360113:p.Glu494Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.E494K	ENST00000371073.2	37	c.1480		1	.	.	.	.	.	.	.	.	.	.	G	32	5.106236	0.94292	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22539	1.95;1.96	6.07	5.17	0.71159	Cache (1);	0.042947	0.85682	N	0.000000	T	0.05364	0.0142	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.19386	-1.0307	10	0.12103	T	0.63	-23.7259	15.145	0.72643	0.0671:0.0:0.9329:0.0	.	494	Q5VU97	CAHD1_HUMAN	K	494;443	ENSP00000360113:E494K;ENSP00000290039:E443K	ENSP00000290039:E443K	E	+	1	0	CACHD1	64890521	1.000000	0.71417	0.982000	0.44146	0.924000	0.55760	9.476000	0.97823	1.582000	0.49881	0.655000	0.94253	GAA	CACHD1	-	pfam_Cache_domain		0.373	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		G	NM_020925		65117933	+1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1A	773	genome.wustl.edu	37	19	13482538	13482538	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:13482538C>T	ENST00000360228.5	-	4	594	c.595G>A	c.(595-597)Gtg>Atg	p.V199M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V199M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	199					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCGCAGCACTCGAACTGCC	0.587																																																	0													19.0	23.0	22.0					19																	13482538		1996	4157	6153	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.595G>A	19.37:g.13482538C>T	ENSP00000353362:p.Val199Met	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.V199M	ENST00000360228.5	37	c.595	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985795	0.74589	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98937	-5.25	4.91	4.91	0.64330	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.99324	0.9763	M	0.92459	3.31	0.58432	D	0.999992	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.973	D	0.98858	1.0761	10	0.87932	D	0	.	16.8738	0.86046	0.0:1.0:0.0:0.0	.	199;199	O00555;Q9NS88	CAC1A_HUMAN;.	M	199	ENSP00000353362:V199M	ENSP00000317661:V199M	V	-	1	0	CACNA1A	13343538	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	7.459000	0.80802	2.285000	0.76669	0.655000	0.94253	GTG	CACNA1A	-	pfam_Ion_trans_dom		0.587	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	C	NM_000068		13482538	-1	no_errors	ENST00000360228	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNA1C	775	genome.wustl.edu	37	12	2786778	2786778	+	Intron	SNP	G	G	A	rs530144847		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:2786778G>A	ENST00000347598.4	+	43	5100				CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399591.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGGAGGGTCGACTGGCTGGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16710	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	100652846			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5101-121G>A	12.37:g.2786778G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	RNA	SNP	-	NULL	ENST00000347598.4	37	NULL	CCDS44788.1	12																																																																																			CACNA1C-AS1	-	-		0.632	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C-AS1	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2786778	-1	no_errors	ENST00000501371	ensembl	human	known	70_37	rna	SNP	0.000	A
CALCOCO1	57658	genome.wustl.edu	37	12	54115830	54115830	+	Silent	SNP	C	C	T	rs144845004		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:54115830C>T	ENST00000550804.1	-	5	648	c.588G>A	c.(586-588)acG>acA	p.T196T	CALCOCO1_ENST00000262059.4_Silent_p.T196T|CALCOCO1_ENST00000548263.1_Silent_p.T196T|CALCOCO1_ENST00000430117.2_Silent_p.T163T|CALCOCO1_ENST00000547885.1_5'Flank			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	196					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCATCAGCTCCGTGTGCTCCT	0.602																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	76.0	62.0	67.0		489,588	-9.4	0.0	12	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CALCOCO1	NM_001143682.1,NM_020898.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	163/607,196/692	54115830	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.588G>A	12.37:g.54115830C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	pfam_CoCoA	p.T196	ENST00000550804.1	37	c.588	CCDS8864.1	12																																																																																			CALCOCO1	-	pfam_CoCoA		0.602	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	C	NM_020898		54115830	-1	no_errors	ENST00000550804	ensembl	human	known	70_37	silent	SNP	0.000	T
CAMKMT	79823	genome.wustl.edu	37	2	44981216	44981216	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:44981216G>T	ENST00000378494.3	+	9	765	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	241						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						CCAGTACAGAGCCAGCCTTGT	0.408																																																	0													278.0	280.0	279.0					2																	44981216		2203	4300	6503	SO:0001583	missense	79823				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.721G>T	2.37:g.44981216G>T	ENSP00000367755:p.Ala241Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.A241S	ENST00000378494.3	37	c.721	CCDS1820.1	2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764415	0.31228	.	.	ENSG00000143919	ENST00000378494	T	0.06068	3.35	5.79	4.88	0.63580	.	0.149470	0.64402	D	0.000013	T	0.06005	0.0156	N	0.08118	0	0.80722	D	1	P	0.50819	0.939	P	0.51453	0.67	T	0.45833	-0.9234	10	0.06891	T	0.86	-9.6057	16.9648	0.86282	0.0:0.127:0.873:0.0	.	241	Q7Z624	CMKMT_HUMAN	S	241	ENSP00000367755:A241S	ENSP00000367755:A241S	A	+	1	0	CAMKMT	44834720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.632000	0.83247	2.733000	0.93635	0.655000	0.94253	GCC	CAMKMT	-	pfam_Nicotinamide_N-MeTfrase-like		0.408	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	HGNC	protein_coding	OTTHUMT00000250678.2	G	NM_024766		44981216	+1	no_errors	ENST00000378494	ensembl	human	known	70_37	missense	SNP	1.000	T
CAMSAP3	57662	genome.wustl.edu	37	19	7670187	7670187	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:7670187C>T	ENST00000160298.4	+	2	325	c.224C>T	c.(223-225)aCa>aTa	p.T75I	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.T75I	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	75					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCCCGGTGACACGGCTGCTG	0.652																																																	0													80.0	90.0	87.0					19																	7670187		1987	4147	6134	SO:0001583	missense	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.224C>T	19.37:g.7670187C>T	ENSP00000160298:p.Thr75Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDF1	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.T75I	ENST00000160298.4	37	c.224	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	c	8.075	0.771158	0.16051	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.12465	2.68;2.68	4.45	4.45	0.53987	.	0.067498	0.56097	D	0.000024	T	0.07279	0.0184	N	0.16790	0.44	0.39448	D	0.967354	B;B	0.28350	0.166;0.208	B;B	0.22152	0.017;0.038	T	0.31308	-0.9948	10	0.30078	T	0.28	-24.0365	6.9697	0.24642	0.0:0.8004:0.0:0.1996	.	75;75	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	I	75	ENSP00000416797:T75I;ENSP00000160298:T75I	ENSP00000160298:T75I	T	+	2	0	KIAA1543	7576187	0.155000	0.22806	0.988000	0.46212	0.735000	0.41995	0.718000	0.25866	2.005000	0.58758	0.478000	0.44815	ACA	CAMSAP3	-	NULL		0.652	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	C	XM_048362		7670187	+1	no_errors	ENST00000446248	ensembl	human	known	70_37	missense	SNP	0.968	T
CASKIN2	57513	genome.wustl.edu	37	17	73501032	73501032	+	Silent	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:73501032G>A	ENST00000321617.3	-	11	1639	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	CASKIN2_ENST00000433559.2_Silent_p.I269I	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	351						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCTGCAGGGATGCCCACCC	0.692																																																	0													25.0	25.0	25.0					17																	73501032		2203	4295	6498	SO:0001819	synonymous_variant	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1053C>T	17.37:g.73501032G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.I351	ENST00000321617.3	37	c.1053	CCDS11723.1	17																																																																																			CASKIN2	-	superfamily_SH3_domain		0.692	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	G	NM_020753		73501032	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	silent	SNP	0.000	A
CASP8	841	genome.wustl.edu	37	2	202136248	202136248	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:202136248C>T	ENST00000432109.2	+	4	504	c.315C>T	c.(313-315)ctC>ctT	p.L105L	CASP8_ENST00000358485.4_Silent_p.L164L|CASP8_ENST00000264274.9_Silent_p.L105L|CASP8_ENST00000392259.2_Silent_p.L105L|CASP8_ENST00000392266.3_Silent_p.L105L|CASP8_ENST00000264275.5_Silent_p.L137L|CASP8_ENST00000323492.7_Silent_p.L105L|CASP8_ENST00000392258.3_Silent_p.L105L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	105	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGGTCATGCTCTATCAGATTT	0.393										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													123.0	122.0	122.0					2																	202136248		2203	4300	6503	SO:0001819	synonymous_variant	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.315C>T	2.37:g.202136248C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.L164	ENST00000432109.2	37	c.492	CCDS2342.1	2																																																																																			CASP8	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED		0.393	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228		202136248	+1	no_errors	ENST00000358485	ensembl	human	known	70_37	silent	SNP	0.984	T
CASP8	841	genome.wustl.edu	37	2	202136259	202136259	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:202136259C>T	ENST00000432109.2	+	4	515	c.326C>T	c.(325-327)tCa>tTa	p.S109L	CASP8_ENST00000358485.4_Missense_Mutation_p.S168L|CASP8_ENST00000264274.9_Missense_Mutation_p.S109L|CASP8_ENST00000392259.2_Missense_Mutation_p.S109L|CASP8_ENST00000392266.3_Missense_Mutation_p.S109L|CASP8_ENST00000264275.5_Missense_Mutation_p.S141L|CASP8_ENST00000323492.7_Missense_Mutation_p.S109L|CASP8_ENST00000392258.3_Missense_Mutation_p.S109L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	109	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.S141*(4)|p.S168*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TATCAGATTTCAGAAGAAGTG	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												6	Substitution - Nonsense(6)	cervix(3)|lung(3)											126.0	126.0	126.0					2																	202136259		2203	4300	6503	SO:0001583	missense	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.326C>T	2.37:g.202136259C>T	ENSP00000412523:p.Ser109Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.S168L	ENST00000432109.2	37	c.503	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305746	0.40795	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.84800	-1.88;-1.9;-1.9;-1.9;-1.88;-1.9;-1.9;-1.88;-1.9;-1.9;-1.88;-1.9;-1.88;-1.88	4.71	2.91	0.33838	DEATH-like (2);Death effector (3);	0.709600	0.13250	N	0.402162	D	0.91023	0.7176	M	0.87456	2.885	0.30197	N	0.798968	P;D;D;D;D;D;P;D;P;D	0.65815	0.746;0.965;0.991;0.989;0.995;0.965;0.928;0.972;0.84;0.98	P;P;D;P;D;P;P;P;P;P	0.64506	0.557;0.814;0.92;0.869;0.926;0.814;0.862;0.844;0.713;0.814	D	0.84421	0.0571	10	0.41790	T	0.15	.	6.9251	0.24410	0.0:0.7193:0.154:0.1267	.	109;109;109;109;109;168;109;109;141;109	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	L	109;109;109;109;109;141;6;109;109;109;168;109;109;109;109	ENSP00000376091:S109L;ENSP00000264274:S109L;ENSP00000376088:S109L;ENSP00000376094:S109L;ENSP00000412523:S109L;ENSP00000264275:S141L;ENSP00000391709:S6L;ENSP00000396869:S109L;ENSP00000376087:S109L;ENSP00000388306:S109L;ENSP00000351273:S168L;ENSP00000397528:S109L;ENSP00000325722:S109L;ENSP00000390641:S109L	ENSP00000264274:S109L	S	+	2	0	CASP8	201844504	0.999000	0.42202	0.995000	0.50966	0.028000	0.11728	2.426000	0.44731	0.586000	0.29626	0.563000	0.77884	TCA	CASP8	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED		0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228		202136259	+1	no_errors	ENST00000358485	ensembl	human	known	70_37	missense	SNP	0.992	T
CATSPERG	57828	genome.wustl.edu	37	19	38855535	38855535	+	Missense_Mutation	SNP	C	C	T	rs200588516		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:38855535C>T	ENST00000409235.3	+	21	2595	c.2480C>T	c.(2479-2481)aCg>aTg	p.T827M	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.T787M|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	827					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCCAGATTACGCTCAAGGAT	0.502																																																	0													100.0	100.0	100.0					19																	38855535		2203	4300	6503	SO:0001583	missense	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2480C>T	19.37:g.38855535C>T	ENSP00000386962:p.Thr827Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.T827M	ENST00000409235.3	37	c.2480	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807288	0.50421	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.34472	1.36;1.36	4.5	-0.549	0.11829	.	0.493419	0.18338	N	0.144285	T	0.25269	0.0614	M	0.67953	2.075	0.80722	D	1	P;P	0.47677	0.899;0.777	B;B	0.34242	0.178;0.07	T	0.11348	-1.0591	10	0.72032	D	0.01	-12.5642	3.8129	0.08804	0.3401:0.467:0.0:0.1929	.	827;787	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	787;827;827	ENSP00000387057:T787M;ENSP00000386962:T827M	ENSP00000386962:T827M	T	+	2	0	CATSPERG	43547375	0.000000	0.05858	0.070000	0.20053	0.580000	0.36256	-1.320000	0.02700	0.100000	0.17581	0.561000	0.74099	ACG	CATSPERG	-	NULL		0.502	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	C	NM_021185		38855535	+1	no_errors	ENST00000409235	ensembl	human	known	70_37	missense	SNP	0.004	T
ACKR2	1238	genome.wustl.edu	37	3	42906932	42906932	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:42906932C>T	ENST00000422265.1	+	3	1113	c.938C>T	c.(937-939)gCc>gTc	p.A313V	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.A313V|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.A313V	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	313					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										ATCCTGTATGCCTTCTCCAGT	0.577																																																	0													182.0	140.0	154.0					3																	42906932		2203	4300	6503	SO:0001583	missense	1238			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.938C>T	3.37:g.42906932C>T	ENSP00000416996:p.Ala313Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.A313V	ENST00000422265.1	37	c.938	CCDS2706.1	3	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158710	0.38119	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.38560	1.13;1.13;1.13	4.96	3.87	0.44632	.	0.000000	0.45126	D	0.000392	T	0.41743	0.1172	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.58820	0.846	T	0.16988	-1.0384	9	.	.	.	.	12.9537	0.58415	0.0:0.9036:0.0:0.0964	.	313	O00590	CCBP2_HUMAN	V	313	ENSP00000396150:A313V;ENSP00000416996:A313V;ENSP00000273145:A313V	.	A	+	2	0	CCBP2	42881936	0.050000	0.20438	0.989000	0.46669	0.389000	0.30415	1.012000	0.29924	2.302000	0.77476	0.655000	0.94253	GCC	CCBP2	-	prints_GPCR_Rhodpsn		0.577	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBP2	HGNC	protein_coding	OTTHUMT00000256645.2	C	NM_001296		42906932	+1	no_errors	ENST00000273145	ensembl	human	known	70_37	missense	SNP	1.000	T
CD164	8763	genome.wustl.edu	37	6	109703435	109703435	+	Silent	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:109703435G>A	ENST00000310786.4	-	1	212	c.147C>T	c.(145-147)tcC>tcT	p.S49S	CD164_ENST00000413644.2_Silent_p.S49S|CD164_ENST00000506649.1_5'Flank|CD164_ENST00000324953.5_Silent_p.S49S|CD164_ENST00000512821.1_Silent_p.S49S|CD164_ENST00000504373.1_5'Flank|RP11-425D10.10_ENST00000563105.1_RNA|CD164_ENST00000275080.7_Silent_p.S49S|CD164_ENST00000368961.5_Silent_p.S49S	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	49					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		CCAGCGGGAGGGACGTCACCG	0.711																																																	0													85.0	53.0	64.0					6																	109703435		2189	4293	6482	SO:0001819	synonymous_variant	8763			AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.147C>T	6.37:g.109703435G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Silent	SNP	pfam_CD164_MGC24,prints_CD164_MGC24	p.S49	ENST00000310786.4	37	c.147	CCDS5073.1	6																																																																																			CD164	-	pfam_CD164_MGC24		0.711	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD164	HGNC	protein_coding	OTTHUMT00000041742.1	G	NM_006016		109703435	-1	no_errors	ENST00000310786	ensembl	human	known	70_37	silent	SNP	0.000	A
CD207	50489	genome.wustl.edu	37	2	71058944	71058944	+	Silent	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:71058944G>A	ENST00000410009.3	-	5	769	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	242	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTTTTATACAGAAACTCCTGT	0.532																																																	0													87.0	88.0	88.0					2																	71058944		1938	4146	6084	SO:0001819	synonymous_variant	50489			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.724C>T	2.37:g.71058944G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L242	ENST00000410009.3	37	c.724		2																																																																																			CD207	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.532	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4	G	NM_015717		71058944	-1	no_errors	ENST00000410009	ensembl	human	known	70_37	silent	SNP	1.000	A
PSG9	5678	genome.wustl.edu	37	19	43719419	43719419	+	Intron	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:43719419G>A	ENST00000418820.2	-	5	1063				CEACAMP10_ENST00000489959.1_RNA			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CAGTCTTCCTGAAATAAACTA	0.507																																																	0																																										SO:0001627	intron_variant	1098			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000418820.2:c.965-2792C>T	19.37:g.43719419G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	RNA	SNP	-	NULL	ENST00000418820.2	37	NULL		19																																																																																			CEACAMP10	-	-		0.507	PSG9-011	PUTATIVE	basic	protein_coding	CEACAMP10	HGNC	protein_coding	OTTHUMT00000463916.1	G	NM_002784		43719419	-1	no_errors	ENST00000489959	ensembl	human	known	70_37	rna	SNP	0.048	A
CELF3	11189	genome.wustl.edu	37	1	151681484	151681484	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:151681484C>T	ENST00000290583.4	-	5	1269	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	CELF3_ENST00000290585.4_Missense_Mutation_p.R159Q|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|RIIAD1_ENST00000326413.3_5'Flank|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	159	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGGCAGGGTCCGGCTGCTGTG	0.677																																																	0													62.0	70.0	67.0					1																	151681484		2203	4300	6503	SO:0001583	missense	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.476G>A	1.37:g.151681484C>T	ENSP00000290583:p.Arg159Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R159Q	ENST00000290583.4	37	c.476	CCDS1002.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.471|8.471	0.857528|0.857528	0.17106|0.17106	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|T;T	.|0.16073	.|2.37;2.37	4.08|4.08	4.08|4.08	0.47627|0.47627	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.06416|0.06416	0.0165|0.0165	N|N	0.04686|0.04686	-0.185|-0.185	0.80722|0.80722	D|D	1|1	.|B;B;B;D;P	.|0.89917	.|0.022;0.023;0.28;1.0;0.76	.|B;B;B;D;B	.|0.69654	.|0.008;0.009;0.032;0.965;0.108	T|T	0.19257|0.19257	-1.0311|-1.0311	5|10	.|0.02654	.|T	.|1	-25.0716|-25.0716	9.1029|9.1029	0.36681|0.36681	0.2184:0.7816:0.0:0.0|0.2184:0.7816:0.0:0.0	.|.	.|159;159;158;159;158	.|Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;CELF3_HUMAN;.	R|Q	160|159;159;158	.|ENSP00000290585:R159Q;ENSP00000290583:R159Q	.|ENSP00000290583:R159Q	G|R	-|-	1|2	0|0	CELF3|CELF3	149948108|149948108	0.769000|0.769000	0.28531|0.28531	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	1.284000|1.284000	0.33249|0.33249	2.089000|2.089000	0.63090|0.63090	0.442000|0.442000	0.29010|0.29010	GGA|CGG	CELF3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.677	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	HGNC	protein_coding	OTTHUMT00000036663.2	C	NM_007185		151681484	-1	no_errors	ENST00000290583	ensembl	human	known	70_37	missense	SNP	1.000	T
CFHR1	3078	genome.wustl.edu	37	1	196801126	196801126	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:196801126A>C	ENST00000320493.5	+	6	1078	c.990A>C	c.(988-990)agA>agC	p.R330S	CFHR1_ENST00000367424.4_Missense_Mutation_p.R271S|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	330					complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTGCAAAAAGATAGAATCAAT	0.323																																																	0													71.0	72.0	72.0					1																	196801126		1873	4115	5988	SO:0001583	missense	3078			M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.990A>C	1.37:g.196801126A>C	ENSP00000314299:p.Arg330Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R330S	ENST00000320493.5	37	c.990	CCDS1386.1	1	.	.	.	.	.	.	.	.	.	.	.	8.303	0.820413	0.16678	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.41065	1.01;1.65	2.37	-4.74	0.03249	Complement control module (1);	.	.	.	.	T	0.19327	0.0464	N	0.08118	0	0.09310	N	1	P;P	0.52842	0.911;0.956	B;P	0.46076	0.252;0.503	T	0.09292	-1.0681	9	0.62326	D	0.03	.	0.1082	0.00054	0.3609:0.1917:0.1674:0.2801	.	330;1231	Q03591;A8K5T0	FHR1_HUMAN;.	S	271;330	ENSP00000356394:R271S;ENSP00000314299:R330S	ENSP00000314299:R330S	R	+	3	2	CFHR1	195067749	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.265000	0.08644	-1.680000	0.01450	0.328000	0.21473	AGA	CFHR1	-	superfamily_Complement_control_module		0.323	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR1	HGNC	protein_coding	OTTHUMT00000088251.2	A	NM_002113		196801126	+1	no_errors	ENST00000320493	ensembl	human	known	70_37	missense	SNP	0.000	C
CGB7	94027	genome.wustl.edu	37	19	49558222	49558222	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:49558222G>A	ENST00000597853.1	-	4	2930	c.59C>T	c.(58-60)gCa>gTa	p.A20V	CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000356213.4_Missense_Mutation_p.A18V|CGB7_ENST00000377280.3_Missense_Mutation_p.A20V|CGB7_ENST00000596965.1_Missense_Mutation_p.A20V			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	20					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTCCCTGGATGCCCATGTCCC	0.657																																																	0													92.0	68.0	77.0					19																	49558222		1503	2684	4187	SO:0001583	missense	94027			K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.59C>T	19.37:g.49558222G>A	ENSP00000470813:p.Ala20Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.A20V	ENST00000597853.1	37	c.59	CCDS33071.1	19	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275731	0.40294	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	T;T	0.49139	0.79;0.79	2.0	2.0	0.26442	.	0.471757	0.21086	N	0.080419	T	0.50650	0.1628	.	.	.	0.29269	N	0.870793	P;D	0.53151	0.907;0.958	P;B	0.55055	0.767;0.341	T	0.43343	-0.9397	9	0.42905	T	0.14	-7.0927	7.5905	0.28019	0.0:0.0:1.0:0.0	.	18;50	F5H162;A6NKQ9	.;CGB1_HUMAN	V	20;18	ENSP00000366493:A20V;ENSP00000348545:A18V	ENSP00000348545:A18V	A	-	2	0	CGB7	54250034	0.995000	0.38212	0.701000	0.30321	0.018000	0.09664	4.666000	0.61554	1.442000	0.47568	0.194000	0.17425	GCA	CGB7	-	NULL		0.657	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CGB7	HGNC	protein_coding	OTTHUMT00000466254.1	G	NM_033142		49558222	-1	no_errors	ENST00000377280	ensembl	human	known	70_37	missense	SNP	0.880	A
CIITA	4261	genome.wustl.edu	37	16	11010239	11010239	+	Silent	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr16:11010239T>C	ENST00000324288.8	+	15	3118	c.2985T>C	c.(2983-2985)agT>agC	p.S995S	CIITA_ENST00000381835.5_Silent_p.S411S	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	995					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ATGCGCTGAGTGAGAACAAGA	0.622			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													57.0	45.0	49.0					16																	11010239		2197	4300	6497	SO:0001819	synonymous_variant	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2985T>C	16.37:g.11010239T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.S995	ENST00000324288.8	37	c.2985	CCDS10544.1	16																																																																																			CIITA	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	T	NM_000246		11010239	+1	no_errors	ENST00000324288	ensembl	human	known	70_37	silent	SNP	0.841	C
CLEC5A	23601	genome.wustl.edu	37	7	141635692	141635692	+	Silent	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:141635692T>C	ENST00000546910.1	-	5	463	c.267A>G	c.(265-267)gaA>gaG	p.E89E	CLEC5A_ENST00000438351.1_Silent_p.E66E|CLEC5A_ENST00000551012.2_Silent_p.E66E|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	89	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCCAAGATGATTCAGAAGTGG	0.423																																					GBM(154;1592 2613 3360 42983)												0													128.0	120.0	122.0					7																	141635692		2203	4300	6503	SO:0001819	synonymous_variant	23601				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.267A>G	7.37:g.141635692T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52M11|Q9UKQ0	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E89	ENST00000546910.1	37	c.267	CCDS5870.1	7																																																																																			CLEC5A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.423	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC5A	HGNC	protein_coding	OTTHUMT00000347756.1	T	NM_013252		141635692	-1	no_errors	ENST00000546910	ensembl	human	known	70_37	silent	SNP	0.069	C
COL9A1	1297	genome.wustl.edu	37	6	70978539	70978539	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:70978539G>C	ENST00000357250.6	-	17	1413	c.1255C>G	c.(1255-1257)Cgc>Ggc	p.R419G	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.R176G|COL9A1_ENST00000320755.7_Missense_Mutation_p.R176G	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	419	Collagen-like 4.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.R419G(1)|p.R176G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TATCCTGAGCGACCTGGTGGA	0.458																																																	2	Substitution - Missense(2)	lung(2)											86.0	87.0	87.0					6																	70978539		2203	4300	6503	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1255C>G	6.37:g.70978539G>C	ENSP00000349790:p.Arg419Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R419G	ENST00000357250.6	37	c.1255	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	16.48	3.133931	0.56828	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.92699	-3.09;-3.09;-3.09	5.54	5.54	0.83059	.	0.179276	0.52532	D	0.000063	D	0.86037	0.5837	N	0.12853	0.265	0.48452	D	0.999659	P;P	0.51449	0.945;0.807	P;B	0.54270	0.747;0.323	D	0.85718	0.1323	10	0.23302	T	0.38	.	16.4154	0.83732	0.0:0.0:1.0:0.0	.	419;176	P20849;P20849-2	CO9A1_HUMAN;.	G	419;176;176	ENSP00000349790:R419G;ENSP00000315252:R176G;ENSP00000359530:R176G	ENSP00000315252:R176G	R	-	1	0	COL9A1	71035260	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	5.120000	0.64685	2.598000	0.87819	0.650000	0.86243	CGC	COL9A1	-	pfam_Collagen		0.458	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	G			70978539	-1	no_errors	ENST00000357250	ensembl	human	known	70_37	missense	SNP	1.000	C
CPO	130749	genome.wustl.edu	37	2	207804333	207804333	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:207804333C>T	ENST00000272852.3	+	1	56	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	4						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AATGAAGCCTCTGCTTGAAAC	0.453																																																	0													178.0	174.0	176.0					2																	207804333		2203	4300	6503	SO:0001819	synonymous_variant	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.10C>T	2.37:g.207804333C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M277|Q7RTW7	Silent	SNP	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	p.L4	ENST00000272852.3	37	c.10	CCDS2372.1	2																																																																																			CPO	-	NULL		0.453	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPO	HGNC	protein_coding	OTTHUMT00000202040.2	C	NM_173077		207804333	+1	no_errors	ENST00000272852	ensembl	human	known	70_37	silent	SNP	0.011	T
CR2	1380	genome.wustl.edu	37	1	207648498	207648498	+	Missense_Mutation	SNP	C	C	T	rs199700397		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:207648498C>T	ENST00000367058.3	+	13	2665	c.2476C>T	c.(2476-2478)Cgc>Tgc	p.R826C	CR2_ENST00000458541.2_Missense_Mutation_p.R799C|CR2_ENST00000367059.3_Missense_Mutation_p.R826C|CR2_ENST00000367057.3_Missense_Mutation_p.R885C	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	826	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAATGGTAGTCGCGTGATTAG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		23122	0.0		0.001	False		,,,				2504	0.0																0													162.0	146.0	151.0					1																	207648498		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2476C>T	1.37:g.207648498C>T	ENSP00000356025:p.Arg826Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R885C	ENST00000367058.3	37	c.2653	CCDS1478.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.18	2.161059	0.38119	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.69	-1.29	0.09288	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67524	0.2902	L	0.57536	1.79	0.09310	N	0.999999	D;D;D	0.64830	0.991;0.988;0.994	P;P;P	0.59703	0.862;0.677;0.729	T	0.59107	-0.7516	9	0.49607	T	0.09	.	8.5235	0.33291	0.2776:0.3157:0.4068:0.0	.	826;826;885	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	C	826;885;826;799	ENSP00000356025:R826C;ENSP00000356024:R885C;ENSP00000356026:R826C;ENSP00000404222:R799C	ENSP00000356024:R885C	R	+	1	0	CR2	205715121	0.002000	0.14202	0.012000	0.15200	0.424000	0.31475	-0.090000	0.11163	-0.306000	0.08818	0.650000	0.86243	CGC	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	C	NM_001877		207648498	+1	no_errors	ENST00000367057	ensembl	human	known	70_37	missense	SNP	0.120	T
CYP4F22	126410	genome.wustl.edu	37	19	15648399	15648399	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:15648399C>T	ENST00000269703.3	+	6	674	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	CYP4F22_ENST00000601005.2_Silent_p.L159L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	159						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	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 (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCGTCGCCTGCTGACACCCGC	0.542																																																	0													72.0	73.0	73.0					19																	15648399		2203	4300	6503	SO:0001819	synonymous_variant	126410				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.475C>T	19.37:g.15648399C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N8H4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.L159	ENST00000269703.3	37	c.475	CCDS12331.1	19																																																																																			CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II		0.542	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2	C	NM_173483		15648399	+1	no_errors	ENST00000269703	ensembl	human	known	70_37	silent	SNP	1.000	T
DHRSX	207063	genome.wustl.edu	37	X	2161134	2161134	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:2161134G>A	ENST00000334651.5	-	6	786	c.734C>T	c.(733-735)aCg>aTg	p.T245M		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	245							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTAGACGTCCGTGTTGACCAC	0.612																																																	0													111.0	103.0	106.0					X																	2161134		2203	4296	6499	SO:0001583	missense	207063			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.734C>T	X.37:g.2161134G>A	ENSP00000334113:p.Thr245Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.T245M	ENST00000334651.5	37	c.734	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	g	12.00	1.806144	0.31961	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	T;T	0.39406	1.08;1.08	1.45	1.45	0.22620	NAD(P)-binding domain (1);	0.064498	0.64402	U	0.000011	T	0.74405	0.3712	H	0.98629	4.285	0.22412	N	0.99913	D	0.89917	1.0	D	0.78314	0.991	T	0.68500	-0.5392	10	0.87932	D	0	.	10.968	0.47424	0.0:0.0:1.0:0.0	.	245	Q8N5I4	DHRSX_HUMAN	M	245;222	ENSP00000334113:T245M;ENSP00000391778:T222M	ENSP00000334113:T245M	T	-	2	0	DHRSX	2171134	1.000000	0.71417	0.795000	0.32087	0.195000	0.23768	7.336000	0.79245	0.430000	0.26230	0.054000	0.15206	ACG	DHRSX	-	prints_Glc/ribitol_DH		0.612	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	G	NM_145177		2161134	-1	no_errors	ENST00000334651	ensembl	human	known	70_37	missense	SNP	1.000	A
DDX26B	203522	genome.wustl.edu	37	X	134711238	134711238	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:134711238A>T	ENST00000370752.4	+	14	2228	c.1894A>T	c.(1894-1896)Agg>Tgg	p.R632W	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	632										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTGTTGAGGAAACCACA	0.498																																																	0													249.0	201.0	218.0					X																	134711238		2203	4300	6503	SO:0001583	missense	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1894A>T	X.37:g.134711238A>T	ENSP00000359788:p.Arg632Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.R632W	ENST00000370752.4	37	c.1894	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044852	0.75732	.	.	ENSG00000165359	ENST00000370752	T	0.37915	1.17	5.43	4.26	0.50523	.	0.145674	0.64402	D	0.000015	T	0.45155	0.1328	M	0.70275	2.135	0.33535	D	0.594131	D;P	0.57571	0.98;0.928	P;P	0.52159	0.691;0.566	T	0.61501	-0.7050	10	0.87932	D	0	-2.5336	6.5206	0.22272	0.6465:0.2721:0.0814:0.0	.	632;632	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	W	632	ENSP00000359788:R632W	ENSP00000359788:R632W	R	+	1	2	DDX26B	134538904	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.079000	0.30766	0.796000	0.33947	0.486000	0.48141	AGG	DDX26B	-	NULL		0.498	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	A	NM_182540		134711238	+1	no_errors	ENST00000370752	ensembl	human	known	70_37	missense	SNP	1.000	T
DISP1	84976	genome.wustl.edu	37	1	223116463	223116463	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:223116463T>C	ENST00000284476.6	+	2	462	c.298T>C	c.(298-300)Tgc>Cgc	p.C100R	DISP1_ENST00000360254.2_Missense_Mutation_p.C100R|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	100					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCACCAAGAGTGCCATCCCGA	0.527																																																	0													142.0	124.0	130.0					1																	223116463		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.298T>C	1.37:g.223116463T>C	ENSP00000284476:p.Cys100Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.C100R	ENST00000284476.6	37	c.298	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810935	0.32053	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.93019	0.7;-3.15	5.47	0.438	0.16560	.	0.445029	0.25132	N	0.032892	D	0.89670	0.6782	L	0.59436	1.845	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.81239	-0.1023	10	0.51188	T	0.08	-6.0688	9.4315	0.38612	0.0:0.2737:0.0:0.7263	.	100	Q96F81	DISP1_HUMAN	R	100	ENSP00000355848:C100R;ENSP00000284476:C100R	ENSP00000284476:C100R	C	+	1	0	DISP1	221183086	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	0.373000	0.20484	-0.171000	0.10797	0.528000	0.53228	TGC	DISP1	-	NULL		0.527	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	T	NM_032890		223116463	+1	no_errors	ENST00000284476	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH2	146754	genome.wustl.edu	37	17	7722330	7722330	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:7722330G>T	ENST00000572933.1	+	71	12224	c.10764G>T	c.(10762-10764)gaG>gaT	p.E3588D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3588D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3588	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTGACTGAGCAGCTGGAGA	0.607																																																	0													64.0	57.0	59.0					17																	7722330		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10764G>T	17.37:g.7722330G>T	ENSP00000458355:p.Glu3588Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E3588D	ENST00000572933.1	37	c.10764	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408682	0.62399	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.55052	0.54	4.07	3.1	0.35709	.	0.073331	0.52532	D	0.000065	T	0.62672	0.2447	M	0.81942	2.565	0.80722	D	1	P;P	0.46621	0.881;0.81	P;P	0.52109	0.69;0.492	T	0.64210	-0.6461	10	0.52906	T	0.07	.	9.0268	0.36234	0.1056:0.0:0.8944:0.0	.	3549;3588	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3549;3588	ENSP00000373825:E3588D	ENSP00000353818:E3549D	E	+	3	2	DNAH2	7663055	1.000000	0.71417	0.989000	0.46669	0.797000	0.45037	1.779000	0.38624	0.919000	0.36945	0.462000	0.41574	GAG	DNAH2	-	NULL		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7722330	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	T
DPF3	8110	genome.wustl.edu	37	14	73140900	73140900	+	Intron	SNP	A	A	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr14:73140900A>G	ENST00000556509.1	-	8	871				DPF3_ENST00000546183.1_Intron|DPF3_ENST00000557704.1_Intron|DPF3_ENST00000541685.1_Intron	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATGCAAGAGGAGCATTCCTGG	0.577																																																	0													24.0	28.0	26.0					14																	73140900		2133	4253	6386	SO:0001627	intron_variant	8110			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+47T>C	14.37:g.73140900A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	RNA	SNP	-	NULL	ENST00000556509.1	37	NULL		14																																																																																			DPF3	-	-		0.577	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	A			73140900	-1	no_errors	ENST00000554594	ensembl	human	known	70_37	rna	SNP	0.000	G
EGFLAM	133584	genome.wustl.edu	37	5	38407217	38407217	+	Silent	SNP	C	C	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:38407217C>A	ENST00000354891.3	+	8	1462	c.1116C>A	c.(1114-1116)acC>acA	p.T372T	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.T138T|EGFLAM_ENST00000322350.5_Silent_p.T372T	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	372	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCCAGTGCACCCTGGGCAAAG	0.547																																					Colon(62;485 1295 3347 17454)												0													45.0	46.0	46.0					5																	38407217		2203	4300	6503	SO:0001819	synonymous_variant	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1116C>A	5.37:g.38407217C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.T372	ENST00000354891.3	37	c.1116	CCDS56363.1	5																																																																																			EGFLAM	-	smart_EG-like_dom,pfscan_EG-like_dom		0.547	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	C	NM_152403		38407217	+1	no_errors	ENST00000354891	ensembl	human	known	70_37	silent	SNP	1.000	A
EFNA5	1946	genome.wustl.edu	37	5	106717040	106717040	+	Silent	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:106717040G>A	ENST00000333274.6	-	5	884	c.603C>T	c.(601-603)ggC>ggT	p.G201G	EFNA5_ENST00000509503.1_Silent_p.G174G|EFNA5_ENST00000510359.1_5'UTR	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	201					axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CCGCGTTCTCGCCGCGGGATG	0.493																																																	0													150.0	132.0	138.0					5																	106717040		2202	4300	6502	SO:0001819	synonymous_variant	1946			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.603C>T	5.37:g.106717040G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.G201	ENST00000333274.6	37	c.603	CCDS4097.1	5																																																																																			EFNA5	-	NULL		0.493	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA5	HGNC	protein_coding	OTTHUMT00000250652.1	G	NM_001962		106717040	-1	no_errors	ENST00000333274	ensembl	human	known	70_37	silent	SNP	0.704	A
ELFN1	392617	genome.wustl.edu	37	7	1785391	1785391	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:1785391G>A	ENST00000424383.2	+	3	1646	c.1159G>A	c.(1159-1161)Ggg>Agg	p.G387R	ELFN1_ENST00000541472.1_Missense_Mutation_p.G387R|ELFN1_ENST00000561626.1_Missense_Mutation_p.G387R			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	387	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						CACCAGCGCCGGGCTGCGCCA	0.662																																																	0													47.0	48.0	47.0					7																	1785391		692	1591	2283	SO:0001583	missense	392617				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1159G>A	7.37:g.1785391G>A	ENSP00000456548:p.Gly387Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	H3BS57	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G387R	ENST00000424383.2	37	c.1159	CCDS59046.1	7																																																																																			ELFN1	-	superfamily_Fibronectin_type3		0.662	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	HGNC	protein_coding	OTTHUMT00000322893.2	G	NM_001128636		1785391	+1	no_errors	ENST00000424383	ensembl	human	known	70_37	missense	SNP	0.002	A
EIF4H	7458	genome.wustl.edu	37	7	73609171	73609171	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:73609171C>T	ENST00000265753.8	+	6	709	c.570C>T	c.(568-570)ctC>ctT	p.L190L	EIF4H_ENST00000353999.6_Silent_p.L170L	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	190					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GCCCTCCCCTCCGTGGATCCA	0.607																																																	0													41.0	46.0	44.0					7																	73609171		2203	4300	6503	SO:0001819	synonymous_variant	7458				CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.570C>T	7.37:g.73609171C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3R1|D3DXF6|D3DXF8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L190	ENST00000265753.8	37	c.570	CCDS5564.1	7																																																																																			EIF4H	-	NULL		0.607	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4H	HGNC	protein_coding	OTTHUMT00000252375.2	C	NM_022170		73609171	+1	no_errors	ENST00000265753	ensembl	human	known	70_37	silent	SNP	0.994	T
ENPP3	5169	genome.wustl.edu	37	6	132014695	132014695	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:132014695T>C	ENST00000414305.1	+	16	1671	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	ENPP3_ENST00000357639.3_Missense_Mutation_p.L448P|ENPP3_ENST00000358229.5_Missense_Mutation_p.L448P			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	448	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCAAAGCGACTGCACTATGCC	0.393																																																	0													195.0	173.0	180.0					6																	132014695		2203	4300	6503	SO:0001583	missense	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1343T>C	6.37:g.132014695T>C	ENSP00000406261:p.Leu448Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.L448P	ENST00000414305.1	37	c.1343	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111455	0.77210	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.75260	-0.92;-0.92;-0.92	5.8	5.8	0.92144	Alkaline-phosphatase-like, core domain (1);	0.206020	0.33092	N	0.005285	D	0.86539	0.5957	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89536	0.3789	10	0.87932	D	0	-11.5821	15.1328	0.72539	0.0:0.0:0.0:1.0	.	448	O14638	ENPP3_HUMAN	P	448	ENSP00000406261:L448P;ENSP00000350265:L448P;ENSP00000350964:L448P	ENSP00000350265:L448P	L	+	2	0	ENPP3	132056388	1.000000	0.71417	0.996000	0.52242	0.708000	0.40852	6.868000	0.75516	2.203000	0.70933	0.460000	0.39030	CTG	ENPP3	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.393	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	T			132014695	+1	no_errors	ENST00000357639	ensembl	human	known	70_37	missense	SNP	0.998	C
AC114776.3	0	genome.wustl.edu	37	2	111469895	111469895	+	lincRNA	SNP	G	G	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:111469895G>C	ENST00000414159.2	-	0	1651																											GGTCAGGCAGGAGCTGGGGAA	0.577																																																	0													100.0	98.0	99.0					2																	111469895		692	1591	2283			0																															2.37:g.111469895G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000414159.2	37	NULL		2																																																																																			AC114776.3	-	-		0.577	AC114776.3-001	KNOWN	basic	lincRNA	ENSG00000235881	Clone_based_vega_gene	lincRNA	OTTHUMT00000331943.2	G			111469895	-1	no_errors	ENST00000414159	ensembl	human	known	70_37	rna	SNP	0.002	C
DNM1P47	100216544	genome.wustl.edu	37	15	102303043	102303043	+	RNA	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:102303043G>A	ENST00000561463.1	+	0	11089									DNM1 pseudogene 47																		ACCTGTACTCGCATCGGAACC	0.587																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303043G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	G	NG_009149		102303043	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	1.000	A
EPDR1	54749	genome.wustl.edu	37	7	37989929	37989929	+	Silent	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:37989929G>A	ENST00000199448.4	+	3	985	c.606G>A	c.(604-606)tcG>tcA	p.S202S	EPDR1_ENST00000559325.1_Silent_p.S322S|EPDR1_ENST00000476620.1_Silent_p.S100S|EPDR1_ENST00000425345.1_Silent_p.S141S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	202					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AAGACCCCTCGGTGTTTACCC	0.507																																																	0													51.0	46.0	48.0					7																	37989929		2203	4300	6503	SO:0001819	synonymous_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.606G>A	7.37:g.37989929G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.S322	ENST00000199448.4	37	c.966	CCDS5454.2	7																																																																																			EPDR1	-	pfam_Ependymin,smart_Ependymin,prints_Ependymin		0.507	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	G	NM_017549		37989929	+1	no_errors	ENST00000559325	ensembl	human	known	70_37	silent	SNP	0.002	A
EPS15	2060	genome.wustl.edu	37	1	51875362	51875362	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:51875362G>C	ENST00000371733.3	-	14	1216	c.1120C>G	c.(1120-1122)Caa>Gaa	p.Q374E	EPS15_ENST00000371730.2_Missense_Mutation_p.Q374E|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Missense_Mutation_p.Q51E	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	374					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACTTCATCTTGAAGATCCTAA	0.368			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											77.0	77.0	77.0					1																	51875362		2203	4300	6503	SO:0001583	missense	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1120C>G	1.37:g.51875362G>C	ENSP00000360798:p.Gln374Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.Q374E	ENST00000371733.3	37	c.1120	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170998	0.78452	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;D;T	0.82619	1.6;-1.63;3.12	5.54	5.54	0.83059	.	0.000000	0.31392	N	0.007724	D	0.90317	0.6971	M	0.67700	2.07	0.80722	D	1	D;D;D	0.76494	0.965;0.999;0.996	P;D;D	0.80764	0.637;0.994;0.99	D	0.88832	0.3306	10	0.38643	T	0.18	.	19.4767	0.94992	0.0:0.0:1.0:0.0	.	374;374;60	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	E	374;374;51	ENSP00000360795:Q374E;ENSP00000360798:Q374E;ENSP00000379428:Q51E	ENSP00000360795:Q374E	Q	-	1	0	EPS15	51647950	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.982000	0.93471	2.601000	0.87937	0.563000	0.77884	CAA	EPS15	-	NULL		0.368	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	G	NM_001981		51875362	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	missense	SNP	1.000	C
F8	2157	genome.wustl.edu	37	X	154158444	154158444	+	Missense_Mutation	SNP	G	G	T	rs28370212	byFrequency	TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:154158444G>T	ENST00000360256.4	-	14	3821	c.3621C>A	c.(3619-3621)caC>caA	p.H1207Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1207	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCTTGATTGTGTGTATTAT	0.328																																																	0													27.0	26.0	27.0					X																	154158444		2203	4292	6495	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3621C>A	X.37:g.154158444G>T	ENSP00000353393:p.His1207Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.H1207Q	ENST00000360256.4	37	c.3621	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	2.871	-0.233981	0.05983	.	.	ENSG00000185010	ENST00000360256	D	0.99098	-5.42	5.87	-1.08	0.09936	.	1.469460	0.03480	N	0.214939	D	0.95928	0.8674	N	0.25890	0.77	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	D	0.92115	0.5699	10	0.27082	T	0.32	0.4043	3.4584	0.07524	0.0923:0.3256:0.3818:0.2003	.	1207	P00451	FA8_HUMAN	Q	1207	ENSP00000353393:H1207Q	ENSP00000353393:H1207Q	H	-	3	2	F8	153811638	0.015000	0.18098	0.000000	0.03702	0.287000	0.27160	0.239000	0.18023	-0.055000	0.13244	0.597000	0.82753	CAC	F8	-	NULL		0.328	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	G			154158444	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM131A	131408	genome.wustl.edu	37	3	184059910	184059910	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:184059910C>G	ENST00000310585.4	+	1	1653	c.289C>G	c.(289-291)Cga>Gga	p.R97G	EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Missense_Mutation_p.R43G|FAM131A_ENST00000340957.5_Missense_Mutation_p.R43G|FAM131A_ENST00000450976.1_Missense_Mutation_p.R43G|FAM131A_ENST00000383847.2_Missense_Mutation_p.R128G|FAM131A_ENST00000418281.1_Missense_Mutation_p.R5G			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	97						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCCAGGGCCGAGTGGCTCA	0.602																																																	0													137.0	132.0	134.0					3																	184059910		2203	4300	6503	SO:0001583	missense	131408			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.289C>G	3.37:g.184059910C>G	ENSP00000310135:p.Arg97Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	NULL	p.R128G	ENST00000310585.4	37	c.382		3	.	.	.	.	.	.	.	.	.	.	c	19.89	3.910414	0.72983	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000433578;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.69358	2.11	0.50039	D	0.999845	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.64884	-0.6302	10	0.87932	D	0	-16.5193	13.8624	0.63569	0.1534:0.8466:0.0:0.0	.	97;128;5	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	G	43;5;43;43;43;128;43;97	ENSP00000388551:R43G;ENSP00000414050:R5G;ENSP00000340974:R43G;ENSP00000399875:R43G;ENSP00000414913:R43G;ENSP00000373360:R128G;ENSP00000390588:R43G;ENSP00000310135:R97G	ENSP00000310135:R97G	R	+	1	2	FAM131A	185542604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.557000	0.23454	2.590000	0.87494	0.655000	0.94253	CGA	FAM131A	-	NULL		0.602	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	C	NM_144635		184059910	+1	no_errors	ENST00000383847	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM150A	389658	genome.wustl.edu	37	8	53447151	53447151	+	3'UTR	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr8:53447151T>C	ENST00000358543.4	-	0	662				FAM150A_ENST00000523939.1_Silent_p.*112*	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A							extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				TGTACATTCTTAGGAAATGTC	0.264																																																	0																																										SO:0001624	3_prime_UTR_variant	389658				CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.*22A>G	8.37:g.53447151T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZMG9	Silent	SNP	NULL	p.*112	ENST00000358543.4	37	c.335	CCDS6150.1	8																																																																																			FAM150A	-	NULL		0.264	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM150A	HGNC	protein_coding	OTTHUMT00000377959.1	T	NM_207413		53447151	-1	no_errors	ENST00000523939	ensembl	human	novel	70_37	silent	SNP	0.001	C
FAM214A	56204	genome.wustl.edu	37	15	52892428	52892428	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:52892428G>C	ENST00000261844.7	-	9	2697	c.2545C>G	c.(2545-2547)Cga>Gga	p.R849G	FAM214A_ENST00000546305.2_Missense_Mutation_p.R856G|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	849																	AAACATGGTCGAGGACTATTA	0.368																																																	0													77.0	73.0	74.0					15																	52892428		1831	4079	5910	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2545C>G	15.37:g.52892428G>C	ENSP00000261844:p.Arg849Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.R849G	ENST00000261844.7	37	c.2545	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410005	0.42715	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.32988	1.43;1.43	5.13	5.13	0.70059	.	0.485095	0.23949	N	0.042976	T	0.26629	0.0651	N	0.25647	0.755	0.49389	D	0.99978	B;B	0.27229	0.172;0.108	B;B	0.31547	0.132;0.062	T	0.05115	-1.0905	10	0.36615	T	0.2	.	16.7601	0.85509	0.0:0.0:1.0:0.0	.	856;849	F5H8G0;Q32MH5	.;K1370_HUMAN	G	849;849;848;856	ENSP00000261844:R849G;ENSP00000443598:R856G	ENSP00000261844:R849G	R	-	1	2	KIAA1370	50679720	1.000000	0.71417	0.931000	0.37212	0.993000	0.82548	4.683000	0.61679	2.391000	0.81399	0.557000	0.71058	CGA	FAM214A	-	NULL		0.368	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	G	NM_019600		52892428	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	0.987	C
FAT2	2196	genome.wustl.edu	37	5	150914120	150914120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:150914120G>A	ENST00000261800.5	-	12	9289	c.9277C>T	c.(9277-9279)Cga>Tga	p.R3093*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3093	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCACGATCGGCCACCTCCA	0.577																																																	0													113.0	94.0	101.0					5																	150914120		2203	4300	6503	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9277C>T	5.37:g.150914120G>A	ENSP00000261800:p.Arg3093*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3093*	ENST00000261800.5	37	c.9277	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	51	18.558325	0.99907	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.6	5.6	0.85130	.	0.385617	0.21891	N	0.067584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	14.4565	0.67420	0.0:0.0:0.8528:0.1472	.	.	.	.	X	3093	.	ENSP00000261800:R3093X	R	-	1	2	FAT2	150894313	1.000000	0.71417	0.976000	0.42696	0.935000	0.57460	3.946000	0.56644	2.640000	0.89533	0.563000	0.77884	CGA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150914120	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FGD3	89846	genome.wustl.edu	37	9	95778055	95778055	+	Missense_Mutation	SNP	C	C	T	rs374048614		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:95778055C>T	ENST00000375482.3	+	10	1715	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	FGD3_ENST00000416701.2_Missense_Mutation_p.R407W|FGD3_ENST00000337352.6_Missense_Mutation_p.R407W|FGD3_ENST00000538555.1_Missense_Mutation_p.R10W	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	407	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCCAAGCTGCGGCTCATGGG	0.617																																																	0								C	TRP/ARG,TRP/ARG	1,4187		0,1,2093	82.0	90.0	87.0		1219,1219	1.6	1.0	9		87	0,8444		0,0,4222	no	missense,missense	FGD3	NM_001083536.1,NM_033086.2	101,101	0,1,6315	TT,TC,CC		0.0,0.0239,0.0079	probably-damaging,probably-damaging	407/726,407/726	95778055	1,12631	2094	4222	6316	SO:0001583	missense	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1219C>T	9.37:g.95778055C>T	ENSP00000364631:p.Arg407Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R407W	ENST00000375482.3	37	c.1219	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449092	0.63178	2.39E-4	0.0	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;D	0.88354	-0.99;-0.99;-0.99;-2.37	4.94	1.6	0.23607	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.33938	N	0.004404	D	0.93789	0.8014	M	0.83483	2.645	0.50313	D	0.999865	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.988;1.0;0.993	D	0.92930	0.6363	10	0.62326	D	0.03	.	12.7581	0.57347	0.5937:0.4063:0.0:0.0	.	407;407;407	Q5JSP0-2;F8W7P2;Q5JSP0	.;.;FGD3_HUMAN	W	407;407;407;10	ENSP00000364631:R407W;ENSP00000413833:R407W;ENSP00000336914:R407W;ENSP00000442560:R10W	ENSP00000336914:R407W	R	+	1	2	FGD3	94817876	0.988000	0.35896	0.979000	0.43373	0.786000	0.44442	0.532000	0.23067	0.124000	0.18369	0.455000	0.32223	CGG	FGD3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.617	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	C	NM_033086		95778055	+1	no_errors	ENST00000337352	ensembl	human	known	70_37	missense	SNP	0.999	T
FOLH1	2346	genome.wustl.edu	37	11	49221981	49221981	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:49221981C>G	ENST00000256999.2	-	3	497	c.237G>C	c.(235-237)caG>caC	p.Q79H	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.Q64H|FOLH1_ENST00000340334.7_Missense_Mutation_p.Q64H|FOLH1_ENST00000356696.3_Missense_Mutation_p.Q79H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	79					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AATGTGGTATCTGTGTAAAAT	0.333																																																	0													69.0	67.0	68.0					11																	49221981		2201	4297	6498	SO:0001583	missense	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.237G>C	11.37:g.49221981C>G	ENSP00000256999:p.Gln79His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Q79H	ENST00000256999.2	37	c.237	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896788	0.33535	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724;ENST00000529117	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	4.6	2.73	0.32206	.	0.280795	0.25180	N	0.032526	T	0.33673	0.0871	L	0.39245	1.2	0.58432	D	0.999999	P;B;B;B;B	0.39094	0.659;0.004;0.006;0.238;0.042	B;B;B;B;B	0.41440	0.357;0.01;0.008;0.357;0.078	T	0.10019	-1.0648	10	0.66056	D	0.02	.	5.9943	0.19485	0.0:0.6876:0.0:0.3124	.	64;64;64;79;79	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	H	79;79;64;64;79;22	ENSP00000256999:Q79H;ENSP00000349129:Q79H;ENSP00000344131:Q64H;ENSP00000431463:Q64H;ENSP00000431577:Q22H	ENSP00000256999:Q79H	Q	-	3	2	FOLH1	49178557	0.000000	0.05858	0.994000	0.49952	0.987000	0.75469	-0.191000	0.09601	0.570000	0.29347	0.508000	0.49915	CAG	FOLH1	-	NULL		0.333	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	C	NM_004476		49221981	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	missense	SNP	0.969	G
GAL	51083	genome.wustl.edu	37	11	68453095	68453095	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:68453095G>A	ENST00000265643.3	+	3	373	c.115G>A	c.(115-117)Gcg>Acg	p.A39T		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	39					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		CCTGAACAGCGCGGGCTACCT	0.632																																																	0													76.0	62.0	67.0					11																	68453095		2200	4294	6494	SO:0001583	missense	51083			L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"""Endogenous ligands"""	4114	protein-coding gene	gene with protein product	"""galanin-message-associated peptide"", ""galanin/GMAP prepropeptide"""	137035	"""galanin"", ""galanin prepropeptide"""	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.115G>A	11.37:g.68453095G>A	ENSP00000265643:p.Ala39Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14413	Missense_Mutation	SNP	pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin	p.A39T	ENST00000265643.3	37	c.115	CCDS8183.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121482	0.77436	.	.	ENSG00000069482	ENST00000265643	T	0.60171	0.21	3.36	3.36	0.38483	Galanin (4);	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.78801	2.425	0.37620	D	0.921254	D	0.89917	1.0	D	0.87578	0.998	T	0.78863	-0.2036	10	0.87932	D	0	-32.7007	10.0888	0.42434	0.0:0.0:1.0:0.0	.	39	P22466	GALA_HUMAN	T	39	ENSP00000265643:A39T	ENSP00000265643:A39T	A	+	1	0	GAL	68209671	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	5.020000	0.64066	1.709000	0.51313	0.561000	0.74099	GCG	GAL	-	pfam_Galanin,smart_Galanin_pre,prints_Galanin		0.632	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL	HGNC	protein_coding	OTTHUMT00000396843.2	G	NM_001479		68453095	+1	no_errors	ENST00000265643	ensembl	human	known	70_37	missense	SNP	1.000	A
GLDN	342035	genome.wustl.edu	37	15	51696940	51696940	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:51696940T>G	ENST00000335449.6	+	10	1701	c.1645T>G	c.(1645-1647)Tta>Gta	p.L549V	GLDN_ENST00000396399.2_Missense_Mutation_p.L425V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	549					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GTCAACTACCTTAAATCAGTG	0.418																																																	0													99.0	109.0	106.0					15																	51696940		2196	4290	6486	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1645T>G	15.37:g.51696940T>G	ENSP00000335196:p.Leu549Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.L549V	ENST00000335449.6	37	c.1645	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	T	8.118	0.780337	0.16120	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.91843	-2.92;-2.73	5.93	-0.759	0.11045	.	2.072700	0.02632	N	0.104476	D	0.83078	0.5176	N	0.22421	0.69	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.68957	-0.5272	10	0.15952	T	0.53	.	1.334	0.02141	0.1401:0.3144:0.1645:0.381	.	549	Q6ZMI3	GLDN_HUMAN	V	549;425;425	ENSP00000335196:L549V;ENSP00000379681:L425V	ENSP00000335196:L549V	L	+	1	2	GLDN	49484232	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.274000	0.08537	0.128000	0.18479	0.533000	0.62120	TTA	GLDN	-	NULL		0.418	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	T	NM_181789		51696940	+1	no_errors	ENST00000335449	ensembl	human	known	70_37	missense	SNP	0.000	G
GMIP	51291	genome.wustl.edu	37	19	19753385	19753385	+	Silent	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:19753385G>A	ENST00000203556.4	-	2	200	c.63C>T	c.(61-63)atC>atT	p.I21I	GMIP_ENST00000587238.1_Silent_p.I21I|GMIP_ENST00000445806.2_Silent_p.I21I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	21					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCTCCGGAAGATGTCACTGT	0.592																																																	0													165.0	141.0	150.0					19																	19753385		2203	4300	6503	SO:0001819	synonymous_variant	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.63C>T	19.37:g.19753385G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVN9|B7ZLZ0	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.I21	ENST00000203556.4	37	c.63	CCDS12408.1	19																																																																																			GMIP	-	NULL		0.592	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	G	NM_016573		19753385	-1	no_errors	ENST00000203556	ensembl	human	known	70_37	silent	SNP	1.000	A
GOT1L1	137362	genome.wustl.edu	37	8	37794817	37794817	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr8:37794817T>C	ENST00000307599.4	-	4	596	c.497A>G	c.(496-498)gAc>gGc	p.D166G	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	166					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GAGGAGTATGTCGGGGTCCAT	0.522																																																	0													45.0	44.0	44.0					8																	37794817		1867	4100	5967	SO:0001583	missense	137362			BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.497A>G	8.37:g.37794817T>C	ENSP00000303077:p.Asp166Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWL4	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans	p.D166G	ENST00000307599.4	37	c.497	CCDS47839.1	8	.	.	.	.	.	.	.	.	.	.	T	10.25	1.298554	0.23650	.	.	ENSG00000169154	ENST00000307599	T	0.26373	1.74	5.04	-3.66	0.04489	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.044700	0.07528	N	0.911629	T	0.15219	0.0367	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35699	-0.9778	10	0.66056	D	0.02	-1.2652	6.7919	0.23705	0.1661:0.5744:0.0:0.2595	.	166	Q8NHS2	AATC2_HUMAN	G	166	ENSP00000303077:D166G	ENSP00000303077:D166G	D	-	2	0	GOT1L1	37913974	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.746000	0.04829	-0.606000	0.05746	0.449000	0.29647	GAC	GOT1L1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.522	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1L1	HGNC	protein_coding	OTTHUMT00000376823.1	T	NM_152413		37794817	-1	no_errors	ENST00000307599	ensembl	human	known	70_37	missense	SNP	0.000	C
GPR174	84636	genome.wustl.edu	37	X	78426933	78426933	+	Silent	SNP	G	G	A	rs187883081		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:78426933G>A	ENST00000276077.1	+	1	465	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTGGCTGGCTGATCATCTGCC	0.473										HNSCC(63;0.18)																																							0													192.0	165.0	174.0					X																	78426933		2203	4300	6503	SO:0001819	synonymous_variant	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.429G>A	X.37:g.78426933G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3F7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.L143	ENST00000276077.1	37	c.429	CCDS14443.1	X																																																																																			GPR174	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	G	NM_032553		78426933	+1	no_errors	ENST00000276077	ensembl	human	known	70_37	silent	SNP	0.803	A
GPR112	139378	genome.wustl.edu	37	X	135430288	135430288	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:135430288A>C	ENST00000394143.1	+	6	4714	c.4423A>C	c.(4423-4425)Aat>Cat	p.N1475H	GPR112_ENST00000412101.1_Missense_Mutation_p.N1270H|GPR112_ENST00000370652.1_Missense_Mutation_p.N1475H|GPR112_ENST00000287534.4_Missense_Mutation_p.N1412H|GPR112_ENST00000394141.1_Missense_Mutation_p.N1270H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1475					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGACTATATAATGACGGTTT	0.448																																																	0													102.0	102.0	102.0					X																	135430288		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4423A>C	X.37:g.135430288A>C	ENSP00000377699:p.Asn1475His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.N1475H	ENST00000394143.1	37	c.4423	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	a	6.147	0.395366	0.11638	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32988	1.47;1.47;1.43;1.57;1.43	2.81	-2.01	0.07410	.	.	.	.	.	T	0.12263	0.0298	N	0.08118	0	0.09310	N	1	B;B;B	0.14012	0.004;0.009;0.005	B;B;B	0.10450	0.003;0.005;0.002	T	0.23511	-1.0186	9	0.30854	T	0.27	.	3.3458	0.07134	0.509:0.2089:0.282:0.0	.	1412;1270;1475	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	H	1475;1475;1270;1412;1270	ENSP00000377699:N1475H;ENSP00000359686:N1475H;ENSP00000416526:N1270H;ENSP00000287534:N1412H;ENSP00000377697:N1270H	ENSP00000287534:N1412H	N	+	1	0	GPR112	135257954	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.188000	0.17018	-0.677000	0.05231	0.378000	0.23410	AAT	GPR112	-	NULL		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	A			135430288	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.000	C
GPR42	2866	genome.wustl.edu	37	19	35863116	35863116	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:35863116C>T	ENST00000454971.1	+	2	1056	c.855C>T	c.(853-855)gcC>gcT	p.A285A	GPR42_ENST00000597214.1_Silent_p.A285A			O15529	GPR42_HUMAN	G protein-coupled receptor 42 (gene/pseudogene)	285						integral component of plasma membrane (GO:0005887)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGTTCCAAGCCGACTTTCATG	0.592																																																	0													8.0	11.0	10.0					19																	35863116		1950	3719	5669	SO:0001819	synonymous_variant	2866			AF024689		19q13.12	2012-08-20	2010-02-09	2010-02-09	ENSG00000126251	ENSG00000126251		"""GPCR / Class A : Fatty acid receptors"""	4500	protein-coding gene	gene with protein product		603822	"""G protein-coupled receptor 42 pseudogene"""	GPR42P		9344866, 19630535	Standard	NG_008348		Approved	GPR41L, FFAR3L		O15529	OTTHUMG00000157124	ENST00000454971.1:c.855C>T	19.37:g.35863116C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.A285	ENST00000454971.1	37	c.855		19																																																																																			GPR42	-	NULL		0.592	GPR42-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GPR42	HGNC	protein_coding	OTTHUMT00000347518.1	C	NM_005305		35863116	+1	no_errors	ENST00000454971	ensembl	human	known	70_37	silent	SNP	0.000	T
GRK5	2869	genome.wustl.edu	37	10	121093341	121093341	+	Intron	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:121093341G>T	ENST00000392870.2	+	2	477				RP11-79M19.2_ENST00000457948.3_RNA	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAGACCAACTGAAATTAAGAT	0.507																																																	0													63.0	54.0	57.0					10																	121093341		876	1991	2867	SO:0001627	intron_variant	2869			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.148+7218G>T	10.37:g.121093341G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRD0|Q5T059	Nonsense_Mutation	SNP	NULL	p.E71*	ENST00000392870.2	37	c.211	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	g	19.98	3.927771	0.73327	.	.	ENSG00000198873	ENST00000369106	.	.	.	3.44	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.0995	0.14753	0.2786:0.0:0.7214:0.0	.	.	.	.	X	71	.	ENSP00000358102:E71X	E	+	1	0	GRK5	121083331	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.037000	0.13840	0.449000	0.26747	0.651000	0.88453	GAA	GRK5	-	NULL		0.507	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2	G	NM_005308		121093341	+1	no_errors	ENST00000369106	ensembl	human	known	70_37	nonsense	SNP	0.002	T
GRM2	2912	genome.wustl.edu	37	3	51746865	51746865	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:51746865G>T	ENST00000395052.3	+	3	1061	c.827G>T	c.(826-828)cGg>cTg	p.R276L	GRM2_ENST00000442933.2_Missense_Mutation_p.R276L|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	276					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGGATGCCCGGGAGCTGCTT	0.677																																																	0													27.0	28.0	28.0					3																	51746865		2202	4291	6493	SO:0001583	missense	2912			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.827G>T	3.37:g.51746865G>T	ENSP00000378492:p.Arg276Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.R276L	ENST00000395052.3	37	c.827	CCDS2834.1	3	.	.	.	.	.	.	.	.	.	.	g	25.8	4.676279	0.88445	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.85171	-1.95;-1.95	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	2.444140	0.01830	N	0.034636	D	0.94135	0.8119	M	0.78801	2.425	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	T	0.83261	-0.0048	10	0.87932	D	0	.	19.2131	0.93765	0.0:0.0:1.0:0.0	.	276	Q14416	GRM2_HUMAN	L	276	ENSP00000378492:R276L;ENSP00000408906:R276L	ENSP00000296479:R276L	R	+	2	0	GRM2	51721905	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	8.046000	0.89438	2.633000	0.89246	0.645000	0.84053	CGG	GRM2	-	pfam_ANF_lig-bd_rcpt		0.677	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	G			51746865	+1	no_errors	ENST00000395052	ensembl	human	known	70_37	missense	SNP	1.000	T
GUCY1A2	2977	genome.wustl.edu	37	11	106681012	106681012	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:106681012T>C	ENST00000526355.2	-	5	1867	c.1399A>G	c.(1399-1401)Aaa>Gaa	p.K467E	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.K488E|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.K467E	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	467					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TCCATCCTTTTCTTCAACCCA	0.458																																																	0													120.0	122.0	122.0					11																	106681012		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1399A>G	11.37:g.106681012T>C	ENSP00000431245:p.Lys467Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K467E	ENST00000526355.2	37	c.1399	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424857	0.83667	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.88586	-2.4;-2.4;-2.4	5.47	5.47	0.80525	Haem NO binding associated (1);	0.000000	0.47093	U	0.000252	D	0.91157	0.7215	L	0.45581	1.43	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.998	D;D;D	0.64410	0.925;0.92;0.925	D	0.89347	0.3658	10	0.25751	T	0.34	.	14.7305	0.69377	0.0:0.0:0.0:1.0	.	488;467;467	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	E	467;467;488	ENSP00000431245:K467E;ENSP00000282249:K467E;ENSP00000344874:K488E	ENSP00000282249:K467E	K	-	1	0	GUCY1A2	106186222	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.071000	0.62044	0.528000	0.53228	AAA	GUCY1A2	-	pfam_Haem_no_assoc-bd		0.458	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	T			106681012	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	missense	SNP	1.000	C
HEPH	9843	genome.wustl.edu	37	X	65486376	65486376	+	Silent	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:65486376T>C	ENST00000343002.2	+	20	4003	c.3339T>C	c.(3337-3339)gtT>gtC	p.V1113V	HEPH_ENST00000374727.3_Silent_p.V1116V|HEPH_ENST00000519389.1_Silent_p.V1167V|HEPH_ENST00000441993.2_Silent_p.V1115V|HEPH_ENST00000419594.1_Silent_p.V924V|HEPH_ENST00000336279.5_Silent_p.V846V			Q9BQS7	HEPH_HUMAN	hephaestin	1113					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGTTTTGGTTGCCATTAGTG	0.502																																																	0													336.0	218.0	258.0					X																	65486376		2203	4300	6503	SO:0001819	synonymous_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3339T>C	X.37:g.65486376T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.V1167	ENST00000343002.2	37	c.3501		X																																																																																			HEPH	-	NULL		0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	T	NM_138737		65486376	+1	no_errors	ENST00000519389	ensembl	human	known	70_37	silent	SNP	0.017	C
HTR7	3363	genome.wustl.edu	37	10	92508968	92508968	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:92508968A>G	ENST00000336152.3	-	2	949	c.923T>C	c.(922-924)cTc>cCc	p.L308P	HTR7_ENST00000371719.2_Missense_Mutation_p.L308P|HTR7_ENST00000277874.6_Missense_Mutation_p.L308P|HTR7_ENST00000371721.3_Missense_Mutation_p.L308P	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	308					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ATGCTTGAGGAGTCTCGAAAG	0.537																																																	0													85.0	69.0	75.0					10																	92508968		2203	4300	6503	SO:0001583	missense	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.923T>C	10.37:g.92508968A>G	ENSP00000337949:p.Leu308Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.L308P	ENST00000336152.3	37	c.923	CCDS7408.1	10	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616347	0.46736	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.66995	-0.24;-0.2;-0.17;-0.24	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.171895	0.38663	N	0.001602	T	0.75576	0.3868	L	0.51853	1.615	0.80722	D	1	D;B	0.76494	0.999;0.113	D;B	0.71184	0.972;0.044	T	0.72030	-0.4413	10	0.22706	T	0.39	.	15.3243	0.74147	1.0:0.0:0.0:0.0	.	308;308	P34969;P34969-2	5HT7R_HUMAN;.	P	308	ENSP00000337949:L308P;ENSP00000277874:L308P;ENSP00000360784:L308P;ENSP00000360786:L308P	ENSP00000277874:L308P	L	-	2	0	HTR7	92498948	1.000000	0.71417	0.904000	0.35570	0.733000	0.41908	7.572000	0.82409	2.021000	0.59480	0.528000	0.53228	CTC	HTR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt		0.537	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	A	NM_000872		92508968	-1	no_errors	ENST00000336152	ensembl	human	known	70_37	missense	SNP	0.999	G
IGSF9	57549	genome.wustl.edu	37	1	159900133	159900133	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:159900133C>T	ENST00000368094.1	-	15	2107	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	IGSF9_ENST00000361509.3_Missense_Mutation_p.R621Q|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	637	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTACCCCCCGGGGTGTCCT	0.672																																																	0													67.0	75.0	72.0					1																	159900133		2202	4300	6502	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1910G>A	1.37:g.159900133C>T	ENSP00000357073:p.Arg637Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R637Q	ENST00000368094.1	37	c.1910	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	6.823	0.521008	0.13005	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.57436	0.4;0.4	5.3	3.38	0.38709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.222777	0.22378	N	0.060852	T	0.12774	0.0310	N	0.15975	0.35	0.29753	N	0.836188	B	0.31655	0.334	B	0.31812	0.136	T	0.13899	-1.0492	9	.	.	.	-9.9285	5.2217	0.15371	0.1647:0.6634:0.0:0.1718	.	637	Q9P2J2	TUTLA_HUMAN	Q	621;637	ENSP00000355049:R621Q;ENSP00000357073:R637Q	.	R	-	2	0	IGSF9	158166757	0.951000	0.32395	1.000000	0.80357	0.990000	0.78478	1.678000	0.37586	0.573000	0.29400	0.555000	0.69702	CGG	IGSF9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.672	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	C	NM_020789		159900133	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	missense	SNP	0.968	T
IMPAD1	54928	genome.wustl.edu	37	8	57905808	57905808	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr8:57905808A>C	ENST00000262644.4	-	1	595	c.337T>G	c.(337-339)Tcc>Gcc	p.S113A		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	113					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TTGCGGTTGGACAGCACGTCG	0.677																																																	0													70.0	61.0	64.0					8																	57905808		2202	4300	6502	SO:0001583	missense	54928				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.337T>G	8.37:g.57905808A>C	ENSP00000262644:p.Ser113Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NVY7	Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.S113A	ENST00000262644.4	37	c.337	CCDS6169.1	8	.	.	.	.	.	.	.	.	.	.	A	35	5.416418	0.96092	.	.	ENSG00000104331	ENST00000262644;ENST00000517461	T;T	0.80304	-1.36;1.24	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79022	-0.1973	10	0.07325	T	0.83	-0.017	14.2492	0.66009	1.0:0.0:0.0:0.0	.	113	Q9NX62	IMPA3_HUMAN	A	113;38	ENSP00000262644:S113A;ENSP00000430185:S38A	ENSP00000262644:S113A	S	-	1	0	IMPAD1	58068362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.353000	0.79414	1.965000	0.57142	0.454000	0.30748	TCC	IMPAD1	-	pfam_Inositol_monophosphatase		0.677	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPAD1	HGNC	protein_coding	OTTHUMT00000378665.1	A	NM_017813		57905808	-1	no_errors	ENST00000262644	ensembl	human	known	70_37	missense	SNP	1.000	C
IQGAP1	8826	genome.wustl.edu	37	15	91043332	91043332	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:91043332G>A	ENST00000268182.5	+	38	5090	c.4966G>A	c.(4966-4968)Ggg>Agg	p.G1656R	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G1084R	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1656	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAGTTCTACGGGAAGTAATT	0.433																																																	0													72.0	68.0	69.0					15																	91043332		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4966G>A	15.37:g.91043332G>A	ENSP00000268182:p.Gly1656Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.G1656R	ENST00000268182.5	37	c.4966	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148587	0.78001	.	.	ENSG00000140575	ENST00000268182	T	0.02656	4.21	5.7	5.7	0.88788	.	0.166740	0.52532	D	0.000066	T	0.03783	0.0107	N	0.16743	0.435	0.80722	D	1	P;B	0.43024	0.798;0.37	P;B	0.47603	0.551;0.149	T	0.59573	-0.7429	10	0.07990	T	0.79	-15.6836	18.8318	0.92143	0.0:0.0:1.0:0.0	.	277;1656	B4DNP4;P46940	.;IQGA1_HUMAN	R	1656	ENSP00000268182:G1656R	ENSP00000268182:G1656R	G	+	1	0	IQGAP1	88844336	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.811000	0.86092	2.699000	0.92147	0.555000	0.69702	GGG	IQGAP1	-	NULL		0.433	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		91043332	+1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA0895	23366	genome.wustl.edu	37	7	36406537	36406537	+	Intron	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:36406537T>C	ENST00000297063.6	-	3	229				KIAA0895_ENST00000436884.1_Intron|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000415803.2_5'UTR|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.I5V|KIAA0895_ENST00000317020.6_Missense_Mutation_p.I5V|KIAA0895_ENST00000338533.5_5'Flank	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895											breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCACGCGAATGGACTCCAGC	0.786																																																	0													3.0	3.0	3.0					7																	36406537		1229	3031	4260	SO:0001627	intron_variant	23366			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.179-9338A>G	7.37:g.36406537T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.I5V	ENST00000297063.6	37	c.13	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512759	0.44660	.	.	ENSG00000164542	ENST00000317020;ENST00000440378	.	.	.	3.23	3.23	0.37069	.	0.846172	0.10454	N	0.672785	T	0.45994	0.1370	L	0.29908	0.895	0.80722	D	1	B;B;B	0.20671	0.047;0.0;0.002	B;B;B	0.11329	0.006;0.001;0.002	T	0.40440	-0.9563	9	0.48119	T	0.1	.	11.3288	0.49465	0.0:0.0:0.0:1.0	.	5;5;5	B4DGN6;B7ZLT4;Q8NCT3-3	.;.;.	V	5	.	ENSP00000319251:I5V	I	-	1	0	KIAA0895	36373062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	1.709000	0.51313	0.482000	0.46254	ATT	KIAA0895	-	NULL		0.786	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	T	NM_015314		36406537	-1	no_errors	ENST00000317020	ensembl	human	known	70_37	missense	SNP	1.000	C
KCNH2	3757	genome.wustl.edu	37	7	150648917	150648917	+	Missense_Mutation	SNP	C	C	T	rs199473514		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:150648917C>T	ENST00000262186.5	-	7	1965	c.1564G>A	c.(1564-1566)Ggg>Agg	p.G522R	KCNH2_ENST00000392968.2_Missense_Mutation_p.G426R|KCNH2_ENST00000330883.4_Missense_Mutation_p.G182R|KCNH2_ENST00000430723.3_Missense_Mutation_p.G522R	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	522					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TTCAGCAGCCCGATCAGCTGG	0.667																																					GBM(137;110 1844 13671 20123 45161)												0													23.0	25.0	24.0					7																	150648917		2201	4297	6498	SO:0001583	missense	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1564G>A	7.37:g.150648917C>T	ENSP00000262186:p.Gly522Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G522R	ENST00000262186.5	37	c.1564	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485717	0.44147	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	4.08	3.19	0.36642	Ion transport (1);	0.123452	0.53938	D	0.000042	D	0.96247	0.8776	L	0.39020	1.185	0.48975	D	0.999736	D;D;D;D;P	0.89917	1.0;1.0;0.975;0.999;0.943	D;D;P;D;P	0.97110	1.0;0.999;0.833;0.934;0.576	D	0.95735	0.8778	10	0.87932	D	0	.	10.7395	0.46145	0.1918:0.8082:0.0:0.0	.	426;522;182;522;182	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	R	182;426;522;182;522	ENSP00000328531:G182R;ENSP00000376695:G426R;ENSP00000262186:G522R;ENSP00000387657:G522R	ENSP00000262186:G522R	G	-	1	0	KCNH2	150279850	1.000000	0.71417	0.493000	0.27502	0.081000	0.17604	7.536000	0.82023	0.919000	0.36945	0.491000	0.48974	GGG	KCNH2	-	pfam_Ion_trans_dom		0.667	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	C	NM_000238		150648917	-1	no_errors	ENST00000262186	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA2022	340533	genome.wustl.edu	37	X	73963960	73963960	+	Silent	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:73963960C>G	ENST00000055682.6	-	3	1043	c.432G>C	c.(430-432)cgG>cgC	p.R144R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	144					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTAAGCAAGTCCGACTTGGCT	0.483																																																	0													86.0	75.0	79.0					X																	73963960		2203	4300	6503	SO:0001819	synonymous_variant	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.432G>C	X.37:g.73963960C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.R144	ENST00000055682.6	37	c.432	CCDS35337.1	X																																																																																			KIAA2022	-	NULL		0.483	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73963960	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	silent	SNP	1.000	G
LAMB3	3914	genome.wustl.edu	37	1	209791296	209791296	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:209791296C>T	ENST00000356082.4	-	20	3141	c.3007G>A	c.(3007-3009)Ggc>Agc	p.G1003S	LAMB3_ENST00000367030.3_Missense_Mutation_p.G1003S|LAMB3_ENST00000391911.1_Missense_Mutation_p.G1003S	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1003	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGGCTGGTGCCTTGCATGGTG	0.592																																																	0													95.0	86.0	89.0					1																	209791296		2203	4300	6503	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3007G>A	1.37:g.209791296C>T	ENSP00000348384:p.Gly1003Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1003S	ENST00000356082.4	37	c.3007	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025075	0.75390	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.21031	2.03;2.03;2.03;2.36	4.47	3.55	0.40652	.	0.198998	0.43110	D	0.000620	T	0.19046	0.0457	L	0.36672	1.1	0.38276	D	0.942291	P	0.48998	0.918	B	0.43916	0.436	T	0.05354	-1.0890	10	0.34782	T	0.22	.	12.3804	0.55303	0.0:0.9155:0.0:0.0845	.	1003	Q13751	LAMB3_HUMAN	S	1003;1003;1003;72	ENSP00000375778:G1003S;ENSP00000348384:G1003S;ENSP00000355997:G1003S;ENSP00000398683:G72S	ENSP00000348384:G1003S	G	-	1	0	LAMB3	207857919	0.994000	0.37717	0.964000	0.40570	0.995000	0.86356	3.210000	0.51129	1.003000	0.39130	0.456000	0.33151	GGC	LAMB3	-	NULL		0.592	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209791296	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	missense	SNP	0.966	T
LARP1	23367	genome.wustl.edu	37	5	154185505	154185505	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:154185505A>C	ENST00000336314.4	+	15	2404	c.2380A>C	c.(2380-2382)Aag>Cag	p.K794Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	871					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCATTGCCCAAGTTCCAGCA	0.502																																																	0													161.0	150.0	154.0					5																	154185505		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2380A>C	5.37:g.154185505A>C	ENSP00000336721:p.Lys794Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.K794Q	ENST00000336314.4	37	c.2380	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299309	0.81136	.	.	ENSG00000155506	ENST00000336314	T	0.26067	1.76	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.76170	2.325	0.80722	D	1	P;P	0.49559	0.58;0.925	B;P	0.53549	0.393;0.729	T	0.35176	-0.9799	10	0.42905	T	0.14	-24.3189	16.3264	0.82983	1.0:0.0:0.0:0.0	.	871;794	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	794	ENSP00000336721:K794Q	ENSP00000336721:K794Q	K	+	1	0	LARP1	154165698	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.262000	0.95591	2.259000	0.74868	0.374000	0.22700	AAG	LARP1	-	NULL		0.502	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	A	NM_033551		154185505	+1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	C
LINGO2	158038	genome.wustl.edu	37	9	28295239	28295239	+	5'UTR	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:28295239C>T	ENST00000379992.2	-	0	330				LINGO2_ENST00000493941.1_5'UTR	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CAACCCTTGCCGTCTCCCACA	0.468																																																	0																																										SO:0001623	5_prime_UTR_variant	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.-120G>A	9.37:g.28295239C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4K7|B2RPM5|Q6ZMD0	RNA	SNP	-	NULL	ENST00000379992.2	37	NULL	CCDS6524.1	9																																																																																			LINGO2	-	-		0.468	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	C	NM_152570		28295239	-1	no_errors	ENST00000493941	ensembl	human	known	70_37	rna	SNP	0.966	T
FAM230A	653203	genome.wustl.edu	37	22	20710253	20710253	+	Missense_Mutation	SNP	C	C	T	rs377757064		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr22:20710253C>T	ENST00000434783.3	+	8	2169	c.1985C>T	c.(1984-1986)gCg>gTg	p.A662V	USP41_ENST00000486536.2_Intron|USP41_ENST00000454608.2_Intron					family with sequence similarity 230, member A																		CCGTCCAGGGCGTCGCTAACG	0.692																																																	0																																										SO:0001583	missense	101060787			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1985C>T	22.37:g.20710253C>T	ENSP00000463576:p.Ala662Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.A662V	ENST00000434783.3	37	c.1985		22																																																																																			AC007731.1	-	NULL		0.692	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC101060787	Clone_based_vega_gene	protein_coding	OTTHUMT00000319609.4	C			20710253	+1	no_errors	ENST00000434783	ensembl	human	putative	70_37	missense	SNP	0.000	T
LOC729218	729218	genome.wustl.edu	37	4	119554790	119554790	+	lincRNA	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr4:119554790T>C	ENST00000567913.2	+	0	4301																											TCCGGCCTCTTGGCGGCCTCT	0.682																																																	0																																												729218																															4.37:g.119554790T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567913.2	37	NULL		4																																																																																			RP11-384K6.6	-	-		0.682	RP11-384K6.6-001	KNOWN	basic	lincRNA	LOC729218	Clone_based_vega_gene	lincRNA	OTTHUMT00000364170.2	T			119554790	+1	no_errors	ENST00000567913	ensembl	human	known	70_37	rna	SNP	0.759	C
LRRC16A	55604	genome.wustl.edu	37	6	25435767	25435767	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:25435767C>T	ENST00000329474.6	+	5	674	c.306C>T	c.(304-306)gaC>gaT	p.D102D	LRRC16A_ENST00000377969.3_5'UTR|snoU13_ENST00000458807.1_RNA	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	102					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CACCCGAGGACGTGAGTGAGG	0.522																																																	0													63.0	68.0	66.0					6																	25435767		2044	4182	6226	SO:0001819	synonymous_variant	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.306C>T	6.37:g.25435767C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D102	ENST00000329474.6	37	c.306	CCDS54973.1	6																																																																																			LRRC16A	-	NULL		0.522	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	C	NM_017640		25435767	+1	no_errors	ENST00000329474	ensembl	human	novel	70_37	silent	SNP	0.981	T
LRRC8A	56262	genome.wustl.edu	37	9	131670859	131670859	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:131670859G>T	ENST00000259324.5	+	3	1939	c.1416G>T	c.(1414-1416)aaG>aaT	p.K472N	LRRC8A_ENST00000372600.4_Missense_Mutation_p.K472N|LRRC8A_ENST00000372599.3_Missense_Mutation_p.K472N	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	472					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CGGGCCTCAAGGAGCTGTGGC	0.622																																																	0													19.0	19.0	19.0					9																	131670859		2196	4279	6475	SO:0001583	missense	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1416G>T	9.37:g.131670859G>T	ENSP00000259324:p.Lys472Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K472N	ENST00000259324.5	37	c.1416	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	G	9.672	1.146940	0.21288	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.19806	2.12;2.12;2.12	5.51	4.6	0.57074	.	0.166640	0.50627	D	0.000111	T	0.20210	0.0486	L	0.58810	1.83	0.46954	D	0.999261	B	0.12013	0.005	B	0.11329	0.006	T	0.06303	-1.0834	10	0.56958	D	0.05	.	6.4737	0.22024	0.1479:0.0:0.7002:0.1519	.	472	Q8IWT6	LRC8A_HUMAN	N	472	ENSP00000361682:K472N;ENSP00000361680:K472N;ENSP00000259324:K472N	ENSP00000259324:K472N	K	+	3	2	LRRC8A	130710680	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.481000	0.35476	1.295000	0.44724	0.561000	0.74099	AAG	LRRC8A	-	NULL		0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	G	NM_019594		131670859	+1	no_errors	ENST00000259324	ensembl	human	known	70_37	missense	SNP	1.000	T
MAP3K15	389840	genome.wustl.edu	37	X	19391729	19391729	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:19391729G>A	ENST00000338883.4	-	21	2857	c.2858C>T	c.(2857-2859)cCa>cTa	p.P953L	MAP3K15_ENST00000359173.3_Missense_Mutation_p.P388L|MAP3K15_ENST00000469203.2_Missense_Mutation_p.P785L|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	953							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTCGGAGTCTGGGGAGACAGA	0.672																																																	0													42.0	36.0	38.0					X																	19391729		2197	4296	6493	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2858C>T	X.37:g.19391729G>A	ENSP00000345629:p.Pro953Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P953L	ENST00000338883.4	37	c.2858		X	.	.	.	.	.	.	.	.	.	.	g	22.9	4.353029	0.82132	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.73469	-0.73;-0.75;-0.72	5.22	4.33	0.51752	.	0.049700	0.85682	D	0.000000	D	0.83390	0.5244	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.74674	0.984;0.907	D	0.83986	0.0335	10	0.56958	D	0.05	.	14.2642	0.66104	0.0:0.0:0.85:0.15	.	428;953	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	L	953;388;785	ENSP00000345629:P953L;ENSP00000352093:P388L;ENSP00000428356:P785L	ENSP00000345629:P953L	P	-	2	0	MAP3K15	19301650	1.000000	0.71417	0.107000	0.21349	0.158000	0.22134	4.820000	0.62671	0.934000	0.37316	0.509000	0.49947	CCA	MAP3K15	-	NULL		0.672	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		G	NM_001001671		19391729	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	1.000	A
MAGEB18	286514	genome.wustl.edu	37	X	26157301	26157301	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:26157301G>A	ENST00000325250.1	+	2	386	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	67						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GCTTCAGGGAGCCCCATCCAC	0.522																																																	0													44.0	39.0	41.0					X																	26157301		2202	4300	6502	SO:0001583	missense	286514			AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.199G>A	X.37:g.26157301G>A	ENSP00000314543:p.Ala67Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A67T	ENST00000325250.1	37	c.199	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589419	0.28357	.	.	ENSG00000176774	ENST00000325250	T	0.08282	3.11	4.4	-2.34	0.06704	Melanoma associated antigen, MAGE, N-terminal (1);	1.953430	0.02393	N	0.079933	T	0.13543	0.0328	M	0.67397	2.05	0.09310	N	1	B	0.26635	0.155	B	0.30251	0.113	T	0.42732	-0.9434	10	0.54805	T	0.06	.	9.8045	0.40783	0.6943:0.0:0.3057:0.0	.	67	Q96M61	MAGBI_HUMAN	T	67	ENSP00000314543:A67T	ENSP00000314543:A67T	A	+	1	0	MAGEB18	26067222	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.955000	0.03869	-0.721000	0.04929	-0.380000	0.06706	GCC	MAGEB18	-	pfam_Melanoma_ass_antigen_N		0.522	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	HGNC	protein_coding	OTTHUMT00000056120.1	G	NM_173699		26157301	+1	no_errors	ENST00000325250	ensembl	human	known	70_37	missense	SNP	0.000	A
MAU2	23383	genome.wustl.edu	37	19	19466191	19466191	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:19466191C>A	ENST00000392313.6	+	18	1937	c.1758C>A	c.(1756-1758)aaC>aaA	p.N586K	MAU2_ENST00000262815.8_Missense_Mutation_p.N586K	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	586					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCGAACACAACCTCATCACGG	0.597																																																	0													91.0	84.0	86.0					19																	19466191		2203	4300	6503	SO:0001583	missense	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1758C>A	19.37:g.19466191C>A	ENSP00000376127:p.Asn586Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.N586K	ENST00000392313.6	37	c.1758	CCDS32969.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.71|10.71	1.427572|1.427572	0.25726|0.25726	.|.	.|.	ENSG00000129933|ENSG00000129933	ENST00000392313;ENST00000262815|ENST00000262816;ENST00000499453	.|.	.|.	.|.	5.43|5.43	4.41|4.41	0.53225|0.53225	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.43152|0.43152	1.355|1.355	0.53688|0.53688	D|D	0.999977|0.999977	P;P;B|.	0.48694|.	0.884;0.914;0.242|.	B;P;B|.	0.44518|.	0.306;0.452;0.022|.	T|T	0.59048|0.59048	-0.7527|-0.7527	9|6	0.07813|0.87932	T|D	0.8|0	.|.	7.4257|7.4257	0.27098|0.27098	0.0:0.7494:0.0:0.2506|0.0:0.7494:0.0:0.2506	.|.	162;191;586|.	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3|.	.;.;SCC4_HUMAN|.	K|N	586|30	.|.	ENSP00000262815:N586K|ENSP00000262816:T30N	N|T	+|+	3|2	2|0	MAU2|MAU2	19327191|19327191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.076000|1.076000	0.30729|0.30729	1.310000|1.310000	0.45006|0.45006	0.561000|0.561000	0.74099|0.74099	AAC|ACC	MAU2	-	NULL		0.597	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	C	NM_015329		19466191	+1	no_errors	ENST00000262815	ensembl	human	known	70_37	missense	SNP	1.000	A
MCAT	27349	genome.wustl.edu	37	22	43529286	43529286	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr22:43529286G>C	ENST00000290429.6	-	4	981	c.936C>G	c.(934-936)atC>atG	p.I312M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	312					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCAGCTTGTGGATGTGCCCGG	0.552																																																	0													96.0	94.0	94.0					22																	43529286		2203	4300	6503	SO:0001583	missense	27349			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.936C>G	22.37:g.43529286G>C	ENSP00000290429:p.Ile312Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY72|O95510|O95511	Missense_Mutation	SNP	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase	p.I312M	ENST00000290429.6	37	c.936	CCDS33660.1	22	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836082	0.50951	.	.	ENSG00000100294	ENST00000290429	T	0.42131	0.98	5.46	1.95	0.26073	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.125163	0.53938	D	0.000044	T	0.53206	0.1782	M	0.83692	2.655	0.54753	D	0.999989	P	0.46706	0.883	P	0.52710	0.707	T	0.54302	-0.8314	10	0.72032	D	0.01	-13.8519	6.1591	0.20354	0.0675:0.1122:0.5927:0.2277	.	312	Q8IVS2	FABD_HUMAN	M	312	ENSP00000290429:I312M	ENSP00000290429:I312M	I	-	3	3	MCAT	41859230	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	1.024000	0.30077	0.627000	0.30340	0.655000	0.94253	ATC	MCAT	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase		0.552	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAT	HGNC	protein_coding	OTTHUMT00000319677.2	G	NM_173467		43529286	-1	no_errors	ENST00000290429	ensembl	human	known	70_37	missense	SNP	0.999	C
MCM7	4176	genome.wustl.edu	37	7	99693763	99693763	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:99693763G>C	ENST00000303887.5	-	11	1874	c.1229C>G	c.(1228-1230)tCa>tGa	p.S410*	MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Nonsense_Mutation_p.S234*|MIR93_ENST00000385024.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	410	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCACTCCTGAGGAGCCCCG	0.552																																																	0													26.0	28.0	27.0					7																	99693763		2202	4300	6502	SO:0001587	stop_gained	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1229C>G	7.37:g.99693763G>C	ENSP00000307288:p.Ser410*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Nonsense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4	p.S410*	ENST00000303887.5	37	c.1229	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	G	47	13.242201	0.99729	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.6077	15.5504	0.76148	0.0:0.0:1.0:0.0	.	.	.	.	X	410;347;303;234	.	ENSP00000307288:S410X	S	-	2	0	MCM7	99531699	1.000000	0.71417	0.949000	0.38748	0.947000	0.59692	7.633000	0.83260	2.518000	0.84900	0.655000	0.94253	TCA	MCM7	-	pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase		0.552	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	HGNC	protein_coding	OTTHUMT00000336534.3	G			99693763	-1	no_errors	ENST00000303887	ensembl	human	known	70_37	nonsense	SNP	0.999	C
ARPP21	10777	genome.wustl.edu	37	3	35786005	35786005	+	Intron	SNP	G	G	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:35786005G>C	ENST00000187397.4	+	18	2488				MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000458225.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa						cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTGTACGAGAGTGAGTAGCAG	0.567																																																	0													72.0	74.0	73.0					3																	35786005		1568	3582	5150	SO:0001627	intron_variant	406916			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2032+548G>C	3.37:g.35786005G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	RNA	SNP	-	NULL	ENST00000187397.4	37	NULL	CCDS2661.1	3																																																																																			MIR128-2	-	-		0.567	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR128-2	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35786005	+1	no_errors	ENST00000384893	ensembl	human	known	70_37	rna	SNP	1.000	C
MINA	84864	genome.wustl.edu	37	3	97677937	97677937	+	Silent	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:97677937G>A	ENST00000333396.7	-	4	1221	c.639C>T	c.(637-639)gcC>gcT	p.A213A	MINA_ENST00000394198.2_Silent_p.A213A|MINA_ENST00000360258.4_Silent_p.A213A|MINA_ENST00000330299.2_Silent_p.A213A	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TCCTTTCCTCGGCCTCCACGC	0.552																																																	0													91.0	72.0	78.0					3																	97677937		2203	4300	6503	SO:0001819	synonymous_variant	84864			AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.639C>T	3.37:g.97677937G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_JmjC_dom,pfscan_JmjC_dom	p.A213	ENST00000333396.7	37	c.639	CCDS43114.1	3																																																																																			MINA	-	pfam_JmjC_dom,pfscan_JmjC_dom		0.552	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MINA	HGNC	protein_coding	OTTHUMT00000359244.3	G	NM_032778		97677937	-1	no_errors	ENST00000333396	ensembl	human	known	70_37	silent	SNP	0.001	A
MIS18BP1	55320	genome.wustl.edu	37	14	45711964	45711964	+	Splice_Site	SNP	C	C	T	rs368118272		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr14:45711964C>T	ENST00000310806.4	-	3	1116	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	220					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AATAGTTTACCGTAAGTTAAA	0.343																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	113.0	117.0	116.0		658	4.4	1.0	14		116	0,8600		0,0,4300	no	missense-near-splice	MIS18BP1	NM_018353.4	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	220/1133	45711964	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.658+1G>A	14.37:g.45711964C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E220K	ENST00000310806.4	37	c.658	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301945	0.81136	2.27E-4	0.0	ENSG00000129534	ENST00000310806	T	0.24723	1.84	4.43	4.43	0.53597	.	0.224052	0.37577	N	0.002037	T	0.31420	0.0796	L	0.29908	0.895	0.31301	N	0.688241	D	0.76494	0.999	P	0.58660	0.843	T	0.10683	-1.0619	9	.	.	.	-13.9168	12.7162	0.57117	0.0:1.0:0.0:0.0	.	220	Q6P0N0	M18BP_HUMAN	K	220	ENSP00000309790:E220K	.	E	-	1	0	MIS18BP1	44781714	0.991000	0.36638	0.998000	0.56505	0.741000	0.42261	3.303000	0.51858	2.454000	0.82982	0.585000	0.79938	GAA	MIS18BP1	-	NULL		0.343	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	C		Missense_Mutation	45711964	-1	no_errors	ENST00000310806	ensembl	human	known	70_37	missense	SNP	1.000	T
MLIP	90523	genome.wustl.edu	37	6	54095657	54095657	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:54095657C>G	ENST00000274897.5	+	11	1372	c.1259C>G	c.(1258-1260)tCc>tGc	p.S420C	MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.S955C|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	420						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGTCCTTCTCCTTGAGTGAT	0.493																																																	0													226.0	199.0	208.0					6																	54095657		2203	4300	6503	SO:0001583	missense	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1259C>G	6.37:g.54095657C>G	ENSP00000274897:p.Ser420Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NULL	p.S420C	ENST00000274897.5	37	c.1259	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538456	0.65085	.	.	ENSG00000146147	ENST00000274897;ENST00000502396	T;T	0.25749	2.13;1.78	5.59	1.93	0.25924	.	0.000000	0.38217	N	0.001773	T	0.07638	0.0192	N	0.24115	0.695	0.80722	D	1	P;P	0.42871	0.792;0.681	B;B	0.41202	0.35;0.247	T	0.11891	-1.0569	10	0.87932	D	0	.	6.9316	0.24444	0.0:0.2782:0.0:0.7217	.	955;420	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	C	420;955	ENSP00000274897:S420C;ENSP00000426290:S955C	ENSP00000274897:S420C	S	+	2	0	MLIP	54203616	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	1.668000	0.37481	0.091000	0.17302	-0.312000	0.09012	TCC	MLIP	-	NULL		0.493	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	C	NM_138569		54095657	+1	no_errors	ENST00000274897	ensembl	human	known	70_37	missense	SNP	1.000	G
MLNR	2862	genome.wustl.edu	37	13	49795318	49795318	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr13:49795318G>A	ENST00000218721.1	+	1	845	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	MLNR_ENST00000398307.1_Missense_Mutation_p.R282Q	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	282					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGGCCGCTGCGAGGCCCGGCC	0.701																																																	0													8.0	10.0	9.0					13																	49795318		2005	3891	5896	SO:0001583	missense	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.845G>A	13.37:g.49795318G>A	ENSP00000218721:p.Arg282Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R282Q	ENST00000218721.1	37	c.845	CCDS9414.1	13	.	.	.	.	.	.	.	.	.	.	G	2.534	-0.307827	0.05458	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.37915	1.17;1.17	3.36	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.692070	0.13495	N	0.383739	T	0.15782	0.0380	N	0.25286	0.73	0.18873	N	0.999987	P	0.40398	0.716	B	0.25405	0.06	T	0.15838	-1.0423	10	0.13853	T	0.58	0.4047	7.878	0.29605	0.2091:0.0:0.7909:0.0	.	282	O43193	MTLR_HUMAN	Q	282	ENSP00000218721:R282Q;ENSP00000381352:R282Q	ENSP00000218721:R282Q	R	+	2	0	MLNR	48693319	0.000000	0.05858	0.175000	0.22980	0.163000	0.22366	0.281000	0.18810	0.144000	0.18951	0.462000	0.41574	CGA	MLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM		0.701	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1	G	NM_001507		49795318	+1	no_errors	ENST00000218721	ensembl	human	known	70_37	missense	SNP	0.939	A
MMRN1	22915	genome.wustl.edu	37	4	90816728	90816728	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr4:90816728C>T	ENST00000394980.1	+	2	925	c.606C>T	c.(604-606)ttC>ttT	p.F202F	MMRN1_ENST00000264790.2_Silent_p.F202F|MMRN1_ENST00000394981.1_Silent_p.F168F			Q13201	MMRN1_HUMAN	multimerin 1	202					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AATCAAATTTCGAAACAACTA	0.443																																																	0													28.0	30.0	29.0					4																	90816728		2203	4300	6503	SO:0001819	synonymous_variant	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.606C>T	4.37:g.90816728C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.F202	ENST00000394980.1	37	c.606	CCDS3635.1	4																																																																																			MMRN1	-	NULL		0.443	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	C	NM_007351		90816728	+1	no_errors	ENST00000264790	ensembl	human	known	70_37	silent	SNP	1.000	T
MPP6	51678	genome.wustl.edu	37	7	24703216	24703216	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:24703216T>G	ENST00000222644.5	+	6	909	c.659T>G	c.(658-660)gTg>gGg	p.V220G	MPP6_ENST00000409761.1_Missense_Mutation_p.V108G|MPP6_ENST00000396475.2_Missense_Mutation_p.V220G			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TAGGTATTTGTGAAGTGTCAT	0.303																																																	0													116.0	116.0	116.0					7																	24703216		2203	4300	6503	SO:0001583	missense	51678			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.659T>G	7.37:g.24703216T>G	ENSP00000222644:p.Val220Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAF0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.V220G	ENST00000222644.5	37	c.659	CCDS5388.1	7	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545246	0.86022	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	6.08	6.08	0.98989	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.51477	D	0.000097	D	0.96620	0.8897	H	0.97265	3.97	0.80722	D	1	D	0.64830	0.994	D	0.71656	0.974	D	0.97940	1.0325	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	220	Q9NZW5	MPP6_HUMAN	G	220;108;220;220	ENSP00000222644:V220G;ENSP00000386262:V108G;ENSP00000379737:V220G;ENSP00000391020:V220G	ENSP00000222644:V220G	V	+	2	0	MPP6	24669741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.333000	0.79357	0.482000	0.46254	GTG	MPP6	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.303	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP6	HGNC	protein_coding	OTTHUMT00000250272.4	T			24703216	+1	no_errors	ENST00000222644	ensembl	human	known	70_37	missense	SNP	1.000	G
MRPS24	64951	genome.wustl.edu	37	7	43906468	43906468	+	Missense_Mutation	SNP	G	G	A	rs375775056		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:43906468G>A	ENST00000317534.5	-	4	395	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	112					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTACCCCGGCGCTTTAAAACC	0.552																																																	0								G	CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	65.0	62.0	63.0		334,	5.0	1.0	7		63	0,8600		0,0,4300	no	missense,utr-3	MRPS24,URGCP-MRPS24	NM_032014.2,NM_001204871.1	180,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	112/168,	43906468	1,13005	2203	4300	6503	SO:0001583	missense	64951			AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.334C>T	7.37:g.43906468G>A	ENSP00000318158:p.Arg112Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	NULL	p.R112C	ENST00000317534.5	37	c.334	CCDS5473.1	7	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069277	0.55539	2.27E-4	0.0	ENSG00000062582	ENST00000317534	T	0.63580	-0.05	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.81898	0.4920	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.86210	0.1624	10	0.87932	D	0	-12.1142	15.7809	0.78260	0.0:0.0:1.0:0.0	.	112	Q96EL2	RT24_HUMAN	C	112	ENSP00000318158:R112C	ENSP00000318158:R112C	R	-	1	0	MRPS24	43872993	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.590000	0.53979	2.320000	0.78422	0.655000	0.94253	CGC	MRPS24	-	NULL		0.552	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS24	HGNC	protein_coding	OTTHUMT00000250949.1	G	NM_032014		43906468	-1	no_errors	ENST00000317534	ensembl	human	known	70_37	missense	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9056578	9056578	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:9056578C>A	ENST00000397910.4	-	3	31071	c.30868G>T	c.(30868-30870)Gcc>Tcc	p.A10290S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10292	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTGGTGGCAAATGAAGTC	0.502																																																	0													102.0	102.0	102.0					19																	9056578		2064	4206	6270	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30868G>T	19.37:g.9056578C>A	ENSP00000381008:p.Ala10290Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.A10290S	ENST00000397910.4	37	c.30868	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	7.703	0.693584	0.15039	.	.	ENSG00000181143	ENST00000397910	T	0.02631	4.22	3.13	-0.33	0.12683	.	.	.	.	.	T	0.02380	0.0073	N	0.14661	0.345	.	.	.	D	0.54964	0.969	P	0.47744	0.556	T	0.45041	-0.9288	8	0.87932	D	0	.	3.2647	0.06860	0.0:0.5125:0.2253:0.2622	.	10290	B5ME49	.	S	10290	ENSP00000381008:A10290S	ENSP00000381008:A10290S	A	-	1	0	MUC16	8917578	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.364000	0.07583	0.014000	0.14944	0.461000	0.40582	GCC	MUC16	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9056578	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC4	4585	genome.wustl.edu	37	3	195506546	195506546	+	Missense_Mutation	SNP	G	G	A	rs577270484	byFrequency	TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:195506546G>A	ENST00000463781.3	-	2	12364	c.11905C>T	c.(11905-11907)Ctt>Ttt	p.L3969F	MUC4_ENST00000475231.1_Missense_Mutation_p.L3969F|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGAGGTGGCG	0.597																																																	0													14.0	9.0	11.0					3																	195506546		639	1426	2065	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11905C>T	3.37:g.195506546G>A	ENSP00000417498:p.Leu3969Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L3969F	ENST00000463781.3	37	c.11905	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	2.933	-0.220690	0.06061	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.52754	1.2;0.65	.	.	.	.	.	.	.	.	T	0.44074	0.1276	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	D	0.70487	0.969	T	0.24799	-1.0150	7	.	.	.	-0.0516	2.8356	0.05513	3.0E-4:2.0E-4:0.5012:0.4983	.	3841	E7ESK3	.	F	3969	ENSP00000417498:L3969F;ENSP00000420243:L3969F	.	L	-	1	0	MUC4	196991325	0.003000	0.15002	0.008000	0.14137	0.013000	0.08279	-0.390000	0.07332	0.064000	0.16427	0.064000	0.15345	CTT	MUC4	-	NULL		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195506546	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.002	A
MYO15A	51168	genome.wustl.edu	37	17	18025307	18025307	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:18025307C>A	ENST00000205890.5	+	2	3531	c.3193C>A	c.(3193-3195)Ctg>Atg	p.L1065M		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1065					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCATACCCACTGGCTGCGTG	0.637																																																	0													94.0	100.0	98.0					17																	18025307		1989	4169	6158	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3193C>A	17.37:g.18025307C>A	ENSP00000205890:p.Leu1065Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.L1065M	ENST00000205890.5	37	c.3193	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	c	13.60	2.286771	0.40494	.	.	ENSG00000091536	ENST00000205890	D	0.88431	-2.38	5.08	4.11	0.48088	.	.	.	.	.	D	0.87977	0.6314	L	0.32530	0.975	0.80722	D	1	D	0.57571	0.98	P	0.55871	0.786	D	0.87513	0.2441	9	0.62326	D	0.03	.	9.8246	0.40903	0.0:0.9029:0.0:0.0971	.	1065	Q9UKN7	MYO15_HUMAN	M	1065	ENSP00000205890:L1065M	ENSP00000205890:L1065M	L	+	1	2	MYO15A	17966032	0.001000	0.12720	0.858000	0.33744	0.605000	0.37080	0.418000	0.21230	1.123000	0.41961	0.561000	0.74099	CTG	MYO15A	-	NULL		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18025307	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.757	A
MYOM1	8736	genome.wustl.edu	37	18	3126818	3126818	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr18:3126818C>G	ENST00000356443.4	-	19	3205	c.2872G>C	c.(2872-2874)Gat>Cat	p.D958H	MYOM1_ENST00000261606.7_Missense_Mutation_p.D862H|MYOM1_ENST00000400569.3_Missense_Mutation_p.D958H|MYOM1_ENST00000582016.1_5'UTR	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	958	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCAATCTTATCTGGTTGCTTC	0.448																																																	0													90.0	82.0	85.0					18																	3126818		1942	4150	6092	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2872G>C	18.37:g.3126818C>G	ENSP00000348821:p.Asp958His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D958H	ENST00000356443.4	37	c.2872	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825564	0.50739	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.57752	0.38;0.38;0.38	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.352821	0.32836	N	0.005584	T	0.55097	0.1899	L	0.49640	1.575	0.31462	N	0.669393	P;P	0.51147	0.942;0.86	P;P	0.52217	0.693;0.617	T	0.63005	-0.6733	10	0.45353	T	0.12	.	9.3352	0.38045	0.0:0.8008:0.0:0.1992	.	862;958	P52179-2;P52179	.;MYOM1_HUMAN	H	958;958;862	ENSP00000348821:D958H;ENSP00000383413:D958H;ENSP00000261606:D862H	ENSP00000261606:D862H	D	-	1	0	MYOM1	3116818	0.989000	0.36119	1.000000	0.80357	0.932000	0.56968	2.478000	0.45189	2.559000	0.86315	0.655000	0.94253	GAT	MYOM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	C	NM_003803		3126818	-1	no_errors	ENST00000356443	ensembl	human	known	70_37	missense	SNP	0.961	G
NCOA1	8648	genome.wustl.edu	37	2	24916163	24916163	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:24916163G>A	ENST00000406961.1	+	10	1407	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	NCOA1_ENST00000288599.5_Missense_Mutation_p.R252Q|NCOA1_ENST00000395856.3_Missense_Mutation_p.R252Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.R252Q|NCOA1_ENST00000405141.1_Missense_Mutation_p.R252Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.R101Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.R252Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	252					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGATTACCTCGGCCTCCAGCT	0.388			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													153.0	151.0	151.0					2																	24916163		2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.755G>A	2.37:g.24916163G>A	ENSP00000385216:p.Arg252Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.R252Q	ENST00000406961.1	37	c.755	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736190	0.89482	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01963	4.66;4.66;4.53;4.66;4.66;4.66;4.66	5.85	5.85	0.93711	.	0.057174	0.64402	D	0.000001	T	0.06005	0.0156	N	0.14661	0.345	0.58432	D	0.999999	D;P;P;D	0.89917	1.0;0.656;0.767;0.996	D;B;P;P	0.67900	0.954;0.19;0.476;0.777	T	0.56511	-0.7967	10	0.48119	T	0.1	.	19.7671	0.96349	0.0:0.0:1.0:0.0	.	252;252;252;101	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	Q	252;252;101;252;252;252;252	ENSP00000385216:R252Q;ENSP00000385097:R252Q;ENSP00000385195:R101Q;ENSP00000444039:R252Q;ENSP00000320940:R252Q;ENSP00000288599:R252Q;ENSP00000379197:R252Q	ENSP00000288599:R252Q	R	+	2	0	NCOA1	24769667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.701000	0.68325	2.766000	0.95052	0.650000	0.86243	CGG	NCOA1	-	pirsf_Nuclear_rcpt_coactivator		0.388	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	G	NM_147223		24916163	+1	no_errors	ENST00000348332	ensembl	human	known	70_37	missense	SNP	1.000	A
NDEL1	81565	genome.wustl.edu	37	17	8349087	8349087	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:8349087G>A	ENST00000334527.7	+	3	342	c.145G>A	c.(145-147)Gca>Aca	p.A49T	NDEL1_ENST00000585098.1_Missense_Mutation_p.A49T|NDEL1_ENST00000402554.3_Missense_Mutation_p.A49T|NDEL1_ENST00000380025.4_Missense_Mutation_p.A49T|NDEL1_ENST00000299734.7_Missense_Mutation_p.A49T	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	49					activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						AGAATTAGAAGCAGAGTTGGA	0.418																																																	0													126.0	118.0	121.0					17																	8349087		2203	4300	6503	SO:0001583	missense	81565			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.145G>A	17.37:g.8349087G>A	ENSP00000333982:p.Ala49Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	pfam_NUDE_C	p.A49T	ENST00000334527.7	37	c.145	CCDS11143.1	17	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929666	0.73327	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	L	0.53729	1.69	0.80722	D	1	P;P	0.40431	0.717;0.478	B;B	0.30782	0.12;0.078	T	0.51434	-0.8706	9	0.25751	T	0.34	-4.2835	19.3071	0.94167	0.0:0.0:1.0:0.0	.	49;49	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	T	49;49;104;49	.	ENSP00000299734:A49T	A	+	1	0	NDEL1	8289812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.807000	0.86032	2.793000	0.96121	0.563000	0.77884	GCA	NDEL1	-	NULL		0.418	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDEL1	HGNC	protein_coding	OTTHUMT00000226999.2	G	NM_030808		8349087	+1	no_errors	ENST00000299734	ensembl	human	known	70_37	missense	SNP	1.000	A
NDUFV1	4723	genome.wustl.edu	37	11	67378032	67378032	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:67378032G>T	ENST00000322776.6	+	5	844	c.691G>T	c.(691-693)Gca>Tca	p.A231S	NDUFV1_ENST00000529927.1_Missense_Mutation_p.A222S|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000415352.2_Missense_Mutation_p.A224S|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000532303.1_Missense_Mutation_p.A130S	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	231					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						CCCCTTCCCCGCAGACGTGGG	0.622																																																	0													40.0	39.0	39.0					11																	67378032		2200	4294	6494	SO:0001583	missense	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.691G>T	11.37:g.67378032G>T	ENSP00000322450:p.Ala231Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF	p.A231S	ENST00000322776.6	37	c.691	CCDS8173.1	11	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699279	0.68501	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000415352	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	4.72	4.72	0.59763	NADH:ubiquinone oxidoreductase, 51kDa subunit (1);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.992;0.992;1.0	D	0.95466	0.8547	10	0.72032	D	0.01	-13.0862	16.3989	0.83632	0.0:0.0:1.0:0.0	.	130;224;222;231	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	S	231;130;130;222;224	ENSP00000322450:A231S;ENSP00000432015:A130S;ENSP00000435202:A130S;ENSP00000436766:A222S;ENSP00000395368:A224S	ENSP00000322450:A231S	A	+	1	0	NDUFV1	67134608	1.000000	0.71417	0.085000	0.20634	0.132000	0.20833	9.474000	0.97718	2.437000	0.82529	0.561000	0.74099	GCA	NDUFV1	-	pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF		0.622	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	HGNC	protein_coding	OTTHUMT00000388406.1	G	NM_007103		67378032	+1	no_errors	ENST00000322776	ensembl	human	known	70_37	missense	SNP	0.997	T
NEBL	10529	genome.wustl.edu	37	10	21141488	21141488	+	Missense_Mutation	SNP	C	C	T	rs150518045	byFrequency	TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:21141488C>T	ENST00000377122.4	-	10	1390	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	332					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTTGGAGGACGGCATTGCCT	0.493													T|||	5	0.000998403	0.0038	0.0	5008	,	,		14948	0.0		0.0	False		,,,				2504	0.0																0								T	,ILE/VAL,	10,4396	825.3+/-416.5	0,10,2193	148.0	105.0	120.0		,994,	3.7	0.4	10	dbSNP_134	120	1,8599	819.2+/-406.8	0,1,4299	yes	intron,missense,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,29,	0,11,6492	TT,TC,CC		0.0116,0.227,0.0846	,benign,	,332/1015,	21141488	11,12995	2203	4300	6503	SO:0001583	missense	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.994G>A	10.37:g.21141488C>T	ENSP00000366326:p.Val332Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.V332I	ENST00000377122.4	37	c.994	CCDS7134.1	10	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429453	0.25726	0.00227	1.16E-4	ENSG00000078114	ENST00000377122	T	0.43294	0.95	5.98	3.65	0.41850	.	0.856064	0.10521	N	0.664980	T	0.31420	0.0796	L	0.34521	1.04	0.20703	N	0.999866	B	0.09022	0.002	B	0.08055	0.003	T	0.23619	-1.0183	10	0.35671	T	0.21	.	7.7114	0.28679	0.0:0.3891:0.0:0.6109	.	332	O76041	NEBL_HUMAN	I	332	ENSP00000366326:V332I	ENSP00000366326:V332I	V	-	1	0	NEBL	21181494	0.235000	0.23794	0.373000	0.26003	0.661000	0.39034	0.627000	0.24506	0.494000	0.27859	-0.269000	0.10298	GTC	NEBL	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.493	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	C	NM_006393		21141488	-1	no_errors	ENST00000377122	ensembl	human	known	70_37	missense	SNP	0.197	T
NLRP10	338322	genome.wustl.edu	37	11	7982282	7982282	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:7982282G>A	ENST00000328600.2	-	2	1038	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	293	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAGGGGCCGGGTGGTGATG	0.537																																																	0													100.0	102.0	101.0					11																	7982282		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.877C>T	11.37:g.7982282G>A	ENSP00000327763:p.Arg293Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R293W	ENST00000328600.2	37	c.877	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363850	0.41902	.	.	ENSG00000182261	ENST00000328600	D	0.87029	-2.2	5.24	4.28	0.50868	NACHT nucleoside triphosphatase (1);	0.226724	0.22848	N	0.054881	D	0.93657	0.7974	M	0.88241	2.94	0.34865	D	0.743039	D	0.89917	1.0	D	0.97110	1.0	D	0.95937	0.8943	10	0.87932	D	0	.	11.7557	0.51874	0.0:0.0:0.8247:0.1753	.	293	Q86W26	NAL10_HUMAN	W	293	ENSP00000327763:R293W	ENSP00000327763:R293W	R	-	1	2	NLRP10	7938858	0.175000	0.23083	0.878000	0.34440	0.052000	0.14988	0.364000	0.20325	2.631000	0.89168	0.650000	0.86243	CGG	NLRP10	-	pfscan_NACHT_NTPase		0.537	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	G	NM_176821		7982282	-1	no_errors	ENST00000328600	ensembl	human	known	70_37	missense	SNP	0.916	A
NUMBL	9253	genome.wustl.edu	37	19	41179322	41179322	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:41179322C>T	ENST00000252891.4	-	8	1130	c.963G>A	c.(961-963)cgG>cgA	p.R321R	NUMBL_ENST00000540131.1_Silent_p.R280R|NUMBL_ENST00000598779.1_Silent_p.R280R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	321					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGCTCAGCTGCCGTTTGAAAG	0.657																																																	0													32.0	28.0	30.0					19																	41179322		2203	4300	6503	SO:0001819	synonymous_variant	9253			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.963G>A	19.37:g.41179322C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z4J9	Silent	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.R321	ENST00000252891.4	37	c.963	CCDS12561.1	19																																																																																			NUMBL	-	pfam_Numb_domain,pirsf_Numb/numb-like		0.657	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	HGNC	protein_coding	OTTHUMT00000462749.2	C	NM_004756		41179322	-1	no_errors	ENST00000252891	ensembl	human	known	70_37	silent	SNP	1.000	T
NUP133	55746	genome.wustl.edu	37	1	229596401	229596401	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:229596401T>A	ENST00000261396.3	-	20	2892	c.2801A>T	c.(2800-2802)cAt>cTt	p.H934L	NUP133_ENST00000537506.1_Missense_Mutation_p.H918L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	934					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCAGCTGAGATGTTCATGAGC	0.368																																																	0													98.0	100.0	99.0					1																	229596401		2203	4300	6503	SO:0001583	missense	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2801A>T	1.37:g.229596401T>A	ENSP00000261396:p.His934Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.H934L	ENST00000261396.3	37	c.2801	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749304	0.89753	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.23552	1.93;1.9;1.93	5.64	5.64	0.86602	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.41662	-0.9496	10	0.32370	T	0.25	-18.3548	15.8547	0.78968	0.0:0.0:0.0:1.0	.	934	Q8WUM0	NU133_HUMAN	L	863;934;863;918	ENSP00000261396:H934L;ENSP00000355640:H863L;ENSP00000443496:H918L	ENSP00000261396:H934L	H	-	2	0	NUP133	227663024	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.599000	0.82757	2.148000	0.66965	0.460000	0.39030	CAT	NUP133	-	pfam_Nucleoporin_Nup133/Nup155_C		0.368	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	T	NM_018230		229596401	-1	no_errors	ENST00000261396	ensembl	human	known	70_37	missense	SNP	1.000	A
OR52R1	119695	genome.wustl.edu	37	11	4825165	4825165	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:4825165G>T	ENST00000356069.2	-	1	445	c.446C>A	c.(445-447)aCc>aAc	p.T149N	OR52R1_ENST00000380382.1_Missense_Mutation_p.T228N|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCACGATGGTCCCCAGTTT	0.577																																																	0													102.0	88.0	93.0					11																	4825165		2201	4298	6499	SO:0001583	missense	119695			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.446C>A	11.37:g.4825165G>T	ENSP00000348368:p.Thr149Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFI0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T228N	ENST00000356069.2	37	c.683	CCDS31360.2	11	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224434	0.09863	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.38240	1.15;1.15	5.57	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	1.206380	0.06103	N	0.665805	T	0.32556	0.0833	L	0.52011	1.625	0.09310	N	1	B	0.31625	0.332	B	0.30495	0.116	T	0.36065	-0.9763	10	0.66056	D	0.02	.	4.6354	0.12521	0.2425:0.3709:0.3866:0.0	.	149	Q8NGF1	O52R1_HUMAN	N	149;228	ENSP00000348368:T149N;ENSP00000369742:T228N	ENSP00000348368:T149N	T	-	2	0	OR52R1	4781741	.	.	0.089000	0.20774	0.003000	0.03518	.	.	0.895000	0.36342	0.650000	0.86243	ACC	OR52R1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52R1	HGNC	protein_coding	OTTHUMT00000142183.1	G	NM_001005177		4825165	-1	no_errors	ENST00000380382	ensembl	human	known	70_37	missense	SNP	0.000	T
OR6C74	254783	genome.wustl.edu	37	12	55641611	55641611	+	Silent	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:55641611T>C	ENST00000343870.4	+	1	630	c.540T>C	c.(538-540)tcT>tcC	p.S180S		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GTGATGTTTCTCCTATACTGC	0.438																																																	0													90.0	83.0	85.0					12																	55641611		2203	4300	6503	SO:0001819	synonymous_variant	254783				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.540T>C	12.37:g.55641611T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S180	ENST00000343870.4	37	c.540	CCDS31816.1	12																																																																																			OR6C74	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	T			55641611	+1	no_errors	ENST00000343870	ensembl	human	known	70_37	silent	SNP	0.274	C
OR6Q1	219952	genome.wustl.edu	37	11	57799099	57799099	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:57799099C>T	ENST00000302622.3	+	1	698	c.675C>T	c.(673-675)atC>atT	p.I225I	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ATGGCAACATCGTCTGGACAC	0.557																																																	0													186.0	151.0	163.0					11																	57799099		2201	4296	6497	SO:0001819	synonymous_variant	219952			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.675C>T	11.37:g.57799099C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EKW1|Q6IFH1|Q96R34	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I225	ENST00000302622.3	37	c.675	CCDS31541.1	11																																																																																			OR6Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.557	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Q1	HGNC	protein_coding	OTTHUMT00000401257.1	C	NM_001005186		57799099	+1	no_errors	ENST00000302622	ensembl	human	known	70_37	silent	SNP	0.000	T
PCDH10	57575	genome.wustl.edu	37	4	134072049	134072049	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr4:134072049C>G	ENST00000264360.5	+	1	1580	c.754C>G	c.(754-756)Caa>Gaa	p.Q252E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCTTTCGACCAACCCGTCTA	0.652																																																	0													90.0	86.0	87.0					4																	134072049		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.754C>G	4.37:g.134072049C>G	ENSP00000264360:p.Gln252Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q252E	ENST00000264360.5	37	c.754	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526611	0.44969	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.38887	1.11	4.38	4.38	0.52667	Cadherin (3);Cadherin-like (1);	0.000000	0.42420	D	0.000719	T	0.56543	0.1992	L	0.47190	1.495	0.80722	D	1	D;B	0.54964	0.969;0.427	D;B	0.64877	0.93;0.168	T	0.59423	-0.7457	10	0.56958	D	0.05	.	16.7863	0.85575	0.0:1.0:0.0:0.0	.	252;252	Q9P2E7;Q96SF0	PCD10_HUMAN;.	E	252	ENSP00000264360:Q252E	ENSP00000264360:Q252E	Q	+	1	0	PCDH10	134291499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.832000	0.69337	2.254000	0.74563	0.505000	0.49811	CAA	PCDH10	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.652	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	C	NM_032961		134072049	+1	no_errors	ENST00000264360	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDHB6	56130	genome.wustl.edu	37	5	140531422	140531422	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:140531422C>T	ENST00000231136.1	+	1	1584	c.1584C>T	c.(1582-1584)cgC>cgT	p.R528R	PCDHB6_ENST00000543635.1_Silent_p.R392R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGCGTGGGCGCCA	0.657																																																	0													67.0	73.0	71.0					5																	140531422		2202	4300	6502	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1584C>T	5.37:g.140531422C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R528	ENST00000231136.1	37	c.1584	CCDS4248.1	5																																																																																			PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.657	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140531422	+1	no_errors	ENST00000231136	ensembl	human	known	70_37	silent	SNP	0.119	T
PCNT	5116	genome.wustl.edu	37	21	47831564	47831564	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr21:47831564C>T	ENST00000359568.5	+	28	5684	c.5577C>T	c.(5575-5577)ttC>ttT	p.F1859F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1859					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCCAGGAGTTCGAAGCGGCCC	0.612																																																	0													35.0	40.0	38.0					21																	47831564		2202	4299	6501	SO:0001819	synonymous_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5577C>T	21.37:g.47831564C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.F1859	ENST00000359568.5	37	c.5577	CCDS33592.1	21																																																																																			PCNT	-	NULL		0.612	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	C	NM_006031		47831564	+1	no_errors	ENST00000359568	ensembl	human	known	70_37	silent	SNP	0.000	T
PIK3C2B	5287	genome.wustl.edu	37	1	204438027	204438027	+	Missense_Mutation	SNP	C	C	T	rs573891089		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:204438027C>T	ENST00000367187.3	-	3	1460	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G302S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	302					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGGTTCTTGCCAGGCGTCGCA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17660	0.0		0.0	False		,,,				2504	0.001																0													51.0	59.0	56.0					1																	204438027		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.904G>A	1.37:g.204438027C>T	ENSP00000356155:p.Gly302Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.G302S	ENST00000367187.3	37	c.904	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467866	0.26335	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.58940	0.3;0.4	5.54	3.44	0.39384	.	0.306262	0.29900	N	0.010912	T	0.29556	0.0737	N	0.08118	0	0.30283	N	0.791087	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.10989	-1.0606	10	0.20519	T	0.43	.	4.3128	0.10979	0.0:0.6191:0.0:0.3809	.	302;302	F5GWN5;O00750	.;P3C2B_HUMAN	S	302	ENSP00000356155:G302S;ENSP00000400561:G302S	ENSP00000356155:G302S	G	-	1	0	PIK3C2B	202704650	0.990000	0.36364	0.943000	0.38184	0.592000	0.36648	2.056000	0.41355	1.338000	0.45544	0.462000	0.41574	GGC	PIK3C2B	-	NULL		0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	C	NM_002646		204438027	-1	no_errors	ENST00000367187	ensembl	human	known	70_37	missense	SNP	0.983	T
PIK3R1	5295	genome.wustl.edu	37	5	67522531	67522532	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:67522531_67522532GC>AT	ENST00000521381.1	+	2	644_645	c.28_29GC>AT	c.(28-30)GCg>ATg	p.A10M	PIK3R1_ENST00000396611.1_Missense_Mutation_p.A10M|PIK3R1_ENST00000274335.5_Missense_Mutation_p.A10M|PIK3R1_ENST00000521657.1_Missense_Mutation_p.A10M	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	10	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CCAGTACAGAGCGCTGTATGAT	0.406			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	1	Whole gene deletion(1)	large_intestine(1)																																								SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	Exception_encountered	5.37:g.67522531_67522532delinsAT	ENSP00000428056:p.Ala10Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.A10T|p.A10V	ENST00000521381.1	37	c.28|c.29	CCDS3993.1	5																																																																																			PIK3R1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.406	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G|C	NM_181504		67522531|67522532	+1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	A|T
PLEKHA5	54477	genome.wustl.edu	37	12	19459337	19459337	+	Intron	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:19459337G>A	ENST00000299275.6	+	13	1851				PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000317589.4_Intron|RN7SL67P_ENST00000492147.2_RNA|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Intron|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.G617D|PLEKHA5_ENST00000543806.1_Intron	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GTGCAGTGGGGTAGAGAAAAG	0.607																																					Pancreas(196;329 2193 11246 14234 19524)												0																																										SO:0001627	intron_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1846-14159G>A	12.37:g.19459337G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.G617D	ENST00000299275.6	37	c.1850	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	G	5.374	0.254332	0.10185	.	.	ENSG00000052126	ENST00000309364	T	0.12774	2.65	0.158	0.158	0.14942	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32693	-0.9897	5	0.39692	T	0.17	.	.	.	.	.	.	.	.	D	617	ENSP00000311239:G617D	ENSP00000311239:G617D	G	+	2	0	PLEKHA5	19350604	0.005000	0.15991	0.006000	0.13384	0.006000	0.05464	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	GGT	PLEKHA5	-	NULL		0.607	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	G	NM_019012		19459337	+1	no_errors	ENST00000309364	ensembl	human	known	70_37	missense	SNP	0.006	A
PLXNA3	55558	genome.wustl.edu	37	X	153694021	153694021	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:153694021C>T	ENST00000369682.3	+	13	2538	c.2363C>T	c.(2362-2364)gCg>gTg	p.A788V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	788					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTGCTGGGCGCAGCGGCCC	0.647																																																	0													49.0	52.0	51.0					X																	153694021		2203	4299	6502	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2363C>T	X.37:g.153694021C>T	ENSP00000358696:p.Ala788Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A788V	ENST00000369682.3	37	c.2363	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187539	0.78789	.	.	ENSG00000130827	ENST00000369682	T	0.58797	0.31	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	L	0.60957	1.885	0.80722	D	1	D	0.56287	0.975	P	0.58130	0.833	T	0.65224	-0.6220	10	0.29301	T	0.29	.	17.2911	0.87157	0.0:1.0:0.0:0.0	.	788	P51805	PLXA3_HUMAN	V	788	ENSP00000358696:A788V	ENSP00000358696:A788V	A	+	2	0	PLXNA3	153347215	1.000000	0.71417	0.939000	0.37840	0.569000	0.35902	4.943000	0.63554	2.350000	0.79820	0.529000	0.55759	GCG	PLXNA3	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like		0.647	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153694021	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	T
POLE	5426	genome.wustl.edu	37	12	133256810	133256810	+	Splice_Site	SNP	T	T	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:133256810T>A	ENST00000320574.5	-	4	329		c.e4-2		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.?(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAAAGCCACCTGTTAAGAGTC	0.468								DNA polymerases (catalytic subunits)																																									2	Unknown(2)	lung(2)											87.0	84.0	85.0					12																	133256810		2203	4300	6503	SO:0001630	splice_region_variant	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.286-2A>T	12.37:g.133256810T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13533|Q86VH9	Splice_Site	SNP	-	e4-2	ENST00000320574.5	37	c.319-2	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108502	0.77096	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000376577	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.642	0.77012	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE	131766883	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.678000	0.84035	2.106000	0.64143	0.460000	0.39030	.	POLE	-	-		0.468	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	T	NM_006231	Intron	133256810	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	splice_site	SNP	1.000	A
PRTG	283659	genome.wustl.edu	37	15	55972266	55972266	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:55972266G>A	ENST00000389286.4	-	6	1006	c.959C>T	c.(958-960)aCt>aTt	p.T320I	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TACAGTTAAAGTTGCCATAGC	0.398																																																	0													56.0	54.0	55.0					15																	55972266		1900	4112	6012	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.959C>T	15.37:g.55972266G>A	ENSP00000373937:p.Thr320Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T320I	ENST00000389286.4	37	c.959	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717141	0.68844	.	.	ENSG00000166450	ENST00000389286	T	0.28895	1.59	5.78	5.78	0.91487	Immunoglobulin-like (1);	0.050732	0.85682	D	0.000000	T	0.38799	0.1054	N	0.20845	0.615	0.80722	D	1	D	0.69078	0.997	D	0.64321	0.924	T	0.04664	-1.0935	10	0.18276	T	0.48	-25.3102	19.3632	0.94451	0.0:0.0:1.0:0.0	.	320	Q2VWP7	PRTG_HUMAN	I	320	ENSP00000373937:T320I	ENSP00000373937:T320I	T	-	2	0	PRTG	53759558	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	5.881000	0.69706	2.894000	0.99253	0.591000	0.81541	ACT	PRTG	-	smart_Ig_sub,pfscan_Ig-like		0.398	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	G	NM_173814		55972266	-1	no_errors	ENST00000389286	ensembl	human	known	70_37	missense	SNP	0.997	A
QRICH1	54870	genome.wustl.edu	37	3	49094619	49094619	+	Silent	SNP	G	G	A	rs558954411		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:49094619G>A	ENST00000395443.2	-	3	1486	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	QRICH1_ENST00000357496.2_Silent_p.N338N|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Silent_p.N338N	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	338	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTGAACTGCGTTGTAGGCTT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		22150	0.001		0.0	False		,,,				2504	0.0																0													68.0	68.0	68.0					3																	49094619		2203	4300	6503	SO:0001819	synonymous_variant	54870				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1014C>T	3.37:g.49094619G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	pfam_DUF3504,superfamily_DEATH-like	p.N338	ENST00000395443.2	37	c.1014	CCDS2787.1	3																																																																																			QRICH1	-	NULL		0.567	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1	G	NM_017730		49094619	-1	no_errors	ENST00000357496	ensembl	human	known	70_37	silent	SNP	0.828	A
RASA1	5921	genome.wustl.edu	37	5	86672329	86672329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:86672329C>T	ENST00000274376.6	+	16	2695	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.R545*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000456692.2_Nonsense_Mutation_p.R534*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.R544*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	711					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGTTCGAGCACGATACTCTAT	0.393																																																	0													95.0	91.0	93.0					5																	86672329		2203	4300	6503	SO:0001587	stop_gained	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2131C>T	5.37:g.86672329C>T	ENSP00000274376:p.Arg711*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.R711*	ENST00000274376.6	37	c.2131	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.310683	0.98754	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.54	5.54	0.83059	.	0.061271	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4767	0.94992	0.0:1.0:0.0:0.0	.	.	.	.	X	711;744;534;544;545	.	ENSP00000274376:R711X	R	+	1	2	RASA1	86708085	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.743000	0.62110	2.601000	0.87937	0.563000	0.77884	CGA	RASA1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP		0.393	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	C	NM_002890		86672329	+1	no_errors	ENST00000274376	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RGL2	5863	genome.wustl.edu	37	6	33263121	33263121	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:33263121G>A	ENST00000497454.1	-	8	1594	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.R285W	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	367	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CAGGCTGCCCGAAGCCTGTGG	0.637																																																	0													17.0	19.0	18.0					6																	33263121		2200	4297	6497	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1099C>T	6.37:g.33263121G>A	ENSP00000420211:p.Arg367Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R367W	ENST00000497454.1	37	c.1099	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196567	0.58126	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.32515	1.45;1.45	5.01	3.16	0.36331	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.055366	0.64402	D	0.000002	T	0.41213	0.1149	M	0.76170	2.325	0.48975	D	0.999737	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.938	T	0.42816	-0.9429	10	0.87932	D	0	.	10.0435	0.42173	0.0:0.0:0.6326:0.3674	.	285;367	B4DG72;O15211	.;RGL2_HUMAN	W	367;231;285	ENSP00000420211:R367W;ENSP00000403070:R285W	ENSP00000400083:R231W	R	-	1	2	RGL2	33371099	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	4.673000	0.61604	0.647000	0.30713	0.643000	0.83706	CGG	RGL2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.637	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	G			33263121	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	0.984	A
ROBO3	64221	genome.wustl.edu	37	11	124740508	124740508	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:124740508G>A	ENST00000397801.1	+	6	1109	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	ROBO3_ENST00000538940.1_Missense_Mutation_p.R284Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	306	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.R306Q(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TATGAGATCCGGAGTGACCAC	0.592																																																	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)											45.0	50.0	48.0					11																	124740508		2119	4221	6340	SO:0001583	missense	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.917G>A	11.37:g.124740508G>A	ENSP00000380903:p.Arg306Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R306Q	ENST00000397801.1	37	c.917	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266382	0.40095	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.66995	-0.24;-0.24	4.21	3.3	0.37823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.243972	0.21280	N	0.077164	T	0.37183	0.0994	N	0.05351	-0.065	0.80722	D	1	B	0.21753	0.06	B	0.18871	0.023	T	0.10042	-1.0647	10	0.12766	T	0.61	.	3.8875	0.09105	0.1882:0.0:0.512:0.2998	.	306	Q96MS0	ROBO3_HUMAN	Q	306;284	ENSP00000380903:R306Q;ENSP00000441797:R284Q	ENSP00000380903:R306Q	R	+	2	0	ROBO3	124245718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.360000	0.44151	1.124000	0.41980	0.462000	0.41574	CGG	ROBO3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.592	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	G	XM_370663		124740508	+1	no_errors	ENST00000397801	ensembl	human	known	70_37	missense	SNP	1.000	A
SCAPER	49855	genome.wustl.edu	37	15	76994121	76994121	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:76994121C>T	ENST00000563290.1	-	20	2581	c.2486G>A	c.(2485-2487)cGt>cAt	p.R829H	SCAPER_ENST00000324767.7_Missense_Mutation_p.R829H|SCAPER_ENST00000538941.2_Missense_Mutation_p.R583H			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	829						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TGACAGTTCACGCCCCTGGAT	0.368																																																	0													100.0	101.0	100.0					15																	76994121		1875	4120	5995	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2486G>A	15.37:g.76994121C>T	ENSP00000454973:p.Arg829His	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.R829H	ENST00000563290.1	37	c.2486	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796099	0.90453	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.28255	1.68;1.62	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	P;D	0.70016	0.902;0.967	T	0.59979	-0.7352	10	0.62326	D	0.03	.	19.3857	0.94555	0.0:1.0:0.0:0.0	.	828;583	Q9BY12;F5H7X8	SCAPE_HUMAN;.	H	829;583;851	ENSP00000326924:R829H;ENSP00000442190:R583H	ENSP00000303560:R851H	R	-	2	0	SCAPER	74781176	1.000000	0.71417	0.798000	0.32154	0.987000	0.75469	7.234000	0.78134	2.596000	0.87737	0.557000	0.71058	CGT	SCAPER	-	NULL		0.368	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	C	NM_020843		76994121	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	missense	SNP	0.999	T
SCN8A	6334	genome.wustl.edu	37	12	52168096	52168096	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:52168096G>A	ENST00000354534.6	+	20	3947	c.3769G>A	c.(3769-3771)Gtc>Atc	p.V1257I	SCN8A_ENST00000545061.1_Missense_Mutation_p.V1257I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1257					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTATGGCTTCGTCAAGTTCTT	0.493																																																	0													198.0	198.0	198.0					12																	52168096		2198	4300	6498	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3769G>A	12.37:g.52168096G>A	ENSP00000346534:p.Val1257Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V1257I	ENST00000354534.6	37	c.3769	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698271	0.88830	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.97303	-4.33;-4.33;-4.33	5.04	5.04	0.67666	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92153	0.7512	N	0.16098	0.37	0.58432	D	0.999998	P;P	0.44260	0.74;0.83	B;B	0.32805	0.115;0.153	D	0.93522	0.6862	10	0.87932	D	0	.	18.9657	0.92695	0.0:0.0:1.0:0.0	.	1257;1257	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	I	1257;1257;1257;1170	ENSP00000346534:V1257I;ENSP00000440360:V1257I;ENSP00000347255:V1257I	ENSP00000346534:V1257I	V	+	1	0	SCN8A	50454363	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.570000	0.60872	2.786000	0.95864	0.561000	0.74099	GTC	SCN8A	-	pfam_Ion_trans_dom		0.493	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52168096	+1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	A
SH3RF2	153769	genome.wustl.edu	37	5	145428792	145428792	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:145428792G>A	ENST00000511217.1	+	6	1358	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	SH3RF2_ENST00000359120.4_Missense_Mutation_p.V436I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	436	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACAATTACGTCATCCCCAT	0.607											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70.0	69.0	69.0					5																	145428792		2203	4300	6503	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1306G>A	5.37:g.145428792G>A	ENSP00000424497:p.Val436Ile	Somatic	1694	WXS	Illumina HiSeq	Phase_IV	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.V436I	ENST00000511217.1	37	c.1306	CCDS4280.1	5	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452171	0.63290	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.51817	0.69;0.69	5.29	5.29	0.74685	Src homology-3 domain (4);	0.192109	0.34802	N	0.003667	T	0.45135	0.1327	M	0.67517	2.055	0.49389	D	0.999788	P	0.43938	0.822	B	0.32342	0.144	T	0.56257	-0.8009	10	0.59425	D	0.04	-18.2123	17.6888	0.88263	0.0:0.0:1.0:0.0	.	436	Q8TEC5	SH3R2_HUMAN	I	436	ENSP00000352028:V436I;ENSP00000424497:V436I	ENSP00000352028:V436I	V	+	1	0	SH3RF2	145408985	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.238000	0.65366	2.470000	0.83445	0.484000	0.47621	GTC	SH3RF2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.607	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	G	NM_152550		145428792	+1	no_errors	ENST00000359120	ensembl	human	known	70_37	missense	SNP	1.000	A
SI	6476	genome.wustl.edu	37	3	164697172	164697172	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:164697172G>T	ENST00000264382.3	-	48	5524	c.5462C>A	c.(5461-5463)cCa>cAa	p.P1821Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1821	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GATTTCTATTGGTTCTTCTAG	0.303										HNSCC(35;0.089)																																							0													175.0	171.0	172.0					3																	164697172		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5462C>A	3.37:g.164697172G>T	ENSP00000264382:p.Pro1821Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.P1821Q	ENST00000264382.3	37	c.5462	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	2.833	-0.242170	0.05906	.	.	ENSG00000090402	ENST00000264382	D	0.88354	-2.37	4.34	3.39	0.38822	.	7.741150	0.00531	N	0.000203	D	0.83862	0.5346	L	0.38649	1.16	0.29672	N	0.842403	B	0.24618	0.107	B	0.22386	0.039	T	0.68364	-0.5428	10	0.11485	T	0.65	.	8.9343	0.35691	0.0:0.0:0.7783:0.2217	.	1821	P14410	SUIS_HUMAN	Q	1821	ENSP00000264382:P1821Q	ENSP00000264382:P1821Q	P	-	2	0	SI	166179866	1.000000	0.71417	0.716000	0.30569	0.033000	0.12548	2.474000	0.45154	2.406000	0.81754	0.585000	0.79938	CCA	SI	-	NULL		0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164697172	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.948	T
SLC6A2	6530	genome.wustl.edu	37	16	55725925	55725925	+	Silent	SNP	C	C	G	rs202164492		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr16:55725925C>G	ENST00000379906.2	+	5	1134	c.879C>G	c.(877-879)gcC>gcG	p.A293A	SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000567238.1_Silent_p.A188A|SLC6A2_ENST00000568943.1_Silent_p.A293A|SLC6A2_ENST00000561820.1_Silent_p.A293A|SLC6A2_ENST00000219833.8_Silent_p.A293A|SLC6A2_ENST00000414754.3_Silent_p.A293A	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	293					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCATCAATGCCTACCTGCACA	0.597																																																	0													138.0	97.0	111.0					16																	55725925		2198	4300	6498	SO:0001819	synonymous_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.879C>G	16.37:g.55725925C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R707|B4DX48|Q96KH8	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.A293	ENST00000379906.2	37	c.879	CCDS10754.1	16																																																																																			SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.597	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	C			55725925	+1	no_errors	ENST00000219833	ensembl	human	known	70_37	silent	SNP	1.000	G
SLC7A14	57709	genome.wustl.edu	37	3	170204151	170204151	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:170204151G>T	ENST00000231706.5	-	5	1081	c.766C>A	c.(766-768)Caa>Aaa	p.Q256K	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	256					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTGCTCCTTGCAGCACCTGT	0.502																																																	0													266.0	208.0	228.0					3																	170204151		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.766C>A	3.37:g.170204151G>T	ENSP00000231706:p.Gln256Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.Q256K	ENST00000231706.5	37	c.766	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922412	0.52653	.	.	ENSG00000013293	ENST00000231706	D	0.89617	-2.54	5.95	5.95	0.96441	Amino acid permease domain (1);	0.202806	0.53938	N	0.000057	T	0.80025	0.4548	N	0.16368	0.405	0.40799	D	0.983321	B	0.02656	0.0	B	0.08055	0.003	T	0.73968	-0.3815	10	0.17369	T	0.5	.	14.2224	0.65836	0.0:0.0:0.7523:0.2477	.	256	Q8TBB6	S7A14_HUMAN	K	256	ENSP00000231706:Q256K	ENSP00000231706:Q256K	Q	-	1	0	SLC7A14	171686845	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.338000	0.52128	2.822000	0.97130	0.563000	0.77884	CAA	SLC7A14	-	pfam_AA-permease_dom		0.502	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	G	NM_020949		170204151	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	missense	SNP	1.000	T
SLCO1A2	6579	genome.wustl.edu	37	12	21448654	21448655	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G|T	G|T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:21448654_21448655GT>TA	ENST00000307378.6	-	11	1867_1868	c.1147_1148AC>TA	c.(1147-1149)ACt>TAt	p.T383Y	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T251Y|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T383Y|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.T381Y|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T251Y	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	383					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTGTTTGACAGTAATCTTGAAC	0.282																																																	0																																										SO:0001583	missense	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1147_1148delinsTA	12.37:g.21448654_21448655delinsTA	ENSP00000305974:p.Thr383Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.T383N|p.T383S	ENST00000307378.6	37	c.1148|c.1147	CCDS8686.1	12																																																																																			SLCO1A2	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.282	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	G|T	NM_021094		21448654|21448655	-1	no_errors	ENST00000307378	ensembl	human	known	70_37	missense	SNP	0.986|0.993	T|A
SMARCA4	6597	genome.wustl.edu	37	19	11106996	11106996	+	Silent	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:11106996G>T	ENST00000429416.3	+	11	1982	c.1701G>T	c.(1699-1701)ctG>ctT	p.L567L	SMARCA4_ENST00000413806.3_Silent_p.L567L|SMARCA4_ENST00000450717.3_Silent_p.L567L|SMARCA4_ENST00000541122.2_Silent_p.L567L|SMARCA4_ENST00000358026.2_Silent_p.L567L|SMARCA4_ENST00000590574.1_Silent_p.L567L|SMARCA4_ENST00000444061.3_Silent_p.L567L|SMARCA4_ENST00000589677.1_Silent_p.L567L|SMARCA4_ENST00000344626.4_Silent_p.L567L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	567					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCACGGAGCTGGTGCGGCAGC	0.592			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	3	Unknown(3)	lung(2)|prostate(1)											104.0	94.0	97.0					19																	11106996		2203	4300	6503	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1701G>T	19.37:g.11106996G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.L567	ENST00000429416.3	37	c.1701	CCDS12253.1	19																																																																																			SMARCA4	-	NULL		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11106996	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	silent	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25421989	25421989	+	RNA	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:25421989T>C	ENST00000441592.2	+	0	224				SNORD115-5_ENST00000363633.1_RNA|SNORD115-4_ENST00000363810.1_RNA|SNORD115-3_ENST00000363100.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GGGTCGATGATGAGAACTTTA	0.527																																																	0													293.0	298.0	296.0					15																	25421989		876	1990	2866			100033441					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25421989T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000441592.2	37	NULL		15																																																																																			SNORD115-4	-	-		0.527	SNHG14-009	KNOWN	basic	antisense	SNORD115-4	HGNC	processed_transcript	OTTHUMT00000126736.3	T			25421989	+1	no_errors	ENST00000363810	ensembl	human	known	70_37	rna	SNP	0.008	C
CAPN15	6650	genome.wustl.edu	37	16	596889	596889	+	Silent	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr16:596889G>T	ENST00000219611.2	+	4	414	c.51G>T	c.(49-51)ccG>ccT	p.P17P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	17					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCCTGAACCCGGCCGGCCAGC	0.672																																																	0													22.0	20.0	21.0					16																	596889		2186	4285	6471	SO:0001819	synonymous_variant	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.51G>T	16.37:g.596889G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.P17	ENST00000219611.2	37	c.51	CCDS10410.1	16																																																																																			SOLH	-	smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOLH	HGNC	protein_coding	OTTHUMT00000239271.1	G	NM_005632		596889	+1	no_errors	ENST00000219611	ensembl	human	known	70_37	silent	SNP	0.037	T
SPTB	6710	genome.wustl.edu	37	14	65268949	65268949	+	Silent	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr14:65268949C>T	ENST00000389721.5	-	4	593	c.561G>A	c.(559-561)acG>acA	p.T187T	SPTB_ENST00000542895.1_Silent_p.T187T|SPTB_ENST00000389720.3_Silent_p.T187T|SPTB_ENST00000556626.1_Silent_p.T187T|SPTB_ENST00000389722.3_Silent_p.T187T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	187	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATACCCTGCCGTCTTCATCT	0.547											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													159.0	114.0	129.0					14																	65268949		2203	4300	6503	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.561G>A	14.37:g.65268949C>T		Somatic	1082	WXS	Illumina HiSeq	Phase_IV	Q15510|Q15519	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T187	ENST00000389721.5	37	c.561	CCDS32100.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.547	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	C			65268949	-1	no_errors	ENST00000389722	ensembl	human	known	70_37	silent	SNP	0.105	T
SPTBN2	6712	genome.wustl.edu	37	11	66468011	66468011	+	Missense_Mutation	SNP	C	C	T	rs369739429		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:66468011C>T	ENST00000533211.1	-	17	3890	c.3559G>A	c.(3559-3561)Gtg>Atg	p.V1187M	SPTBN2_ENST00000309996.2_Missense_Mutation_p.V1187M|SPTBN2_ENST00000529997.1_Missense_Mutation_p.V1187M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1187					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGCTGAGCACGCCCTCAGCC	0.642																																																	0								C	MET/VAL	0,4400		0,0,2200	29.0	35.0	33.0		3559	4.7	0.2	11		33	1,8587		0,1,4293	no	missense	SPTBN2	NM_006946.2	21	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1187/2391	66468011	1,12987	2200	4294	6494	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3559G>A	11.37:g.66468011C>T	ENSP00000432568:p.Val1187Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.V1187M	ENST00000533211.1	37	c.3559	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234512	0.39498	0.0	1.16E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50277	0.75;0.75;0.75	4.65	4.65	0.58169	.	0.069316	0.64402	D	0.000012	T	0.42988	0.1227	N	0.20685	0.6	0.39942	D	0.974428	D	0.69078	0.997	P	0.53760	0.734	T	0.37079	-0.9721	10	0.40728	T	0.16	.	11.6516	0.51292	0.1778:0.8222:0.0:0.0	.	1187	O15020	SPTN2_HUMAN	M	1187	ENSP00000432568:V1187M;ENSP00000311489:V1187M;ENSP00000433593:V1187M	ENSP00000311489:V1187M	V	-	1	0	SPTBN2	66224587	0.845000	0.29573	0.221000	0.23827	0.631000	0.37964	1.737000	0.38197	2.406000	0.81754	0.491000	0.48974	GTG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.642	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66468011	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	missense	SNP	0.988	T
SYCP2	10388	genome.wustl.edu	37	20	58496496	58496496	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr20:58496496A>G	ENST00000357552.3	-	4	262	c.37T>C	c.(37-39)Tgc>Cgc	p.C13R	SYCP2_ENST00000371001.2_Missense_Mutation_p.C13R|SYCP2_ENST00000476314.1_5'UTR			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	13					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCATCAATGCATTTTTCCAAC	0.289																																																	0													35.0	34.0	34.0					20																	58496496		2200	4285	6485	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.37T>C	20.37:g.58496496A>G	ENSP00000350162:p.Cys13Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.C13R	ENST00000357552.3	37	c.37	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	A	6.071	0.381471	0.11524	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.44083	2.48;2.48;2.22;0.93	5.04	3.92	0.45320	.	0.350255	0.28442	N	0.015323	T	0.24353	0.0590	N	0.22421	0.69	0.43156	D	0.994935	B	0.27700	0.186	B	0.28011	0.085	T	0.07770	-1.0755	10	0.21540	T	0.41	0.0041	5.7961	0.18387	0.7323:0.0:0.1347:0.133	.	13	Q9BX26	SYCP2_HUMAN	R	13;13;13;12	ENSP00000360040:C13R;ENSP00000350162:C13R;ENSP00000402456:C13R;ENSP00000399300:C12R	ENSP00000350162:C13R	C	-	1	0	SYCP2	57929891	0.974000	0.33945	1.000000	0.80357	0.600000	0.36913	0.821000	0.27338	2.035000	0.60131	0.383000	0.25322	TGC	SYCP2	-	NULL		0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	A	NM_014258		58496496	-1	no_errors	ENST00000357552	ensembl	human	known	70_37	missense	SNP	0.980	G
SYNE2	23224	genome.wustl.edu	37	14	64593093	64593093	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr14:64593093G>A	ENST00000344113.4	+	72	13815	c.13603G>A	c.(13603-13605)Gaa>Aaa	p.E4535K	SYNE2_ENST00000555002.1_Missense_Mutation_p.E1169K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4486K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E920K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E920K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4535K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4535					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAATTGTTTGAACTATTCCT	0.413																																																	0													70.0	72.0	71.0					14																	64593093		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13603G>A	14.37:g.64593093G>A	ENSP00000341781:p.Glu4535Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4535K	ENST00000344113.4	37	c.13603	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926303	0.52759	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.68765	0.71;4.02;0.72;-0.35;4.07;4.02	5.81	5.81	0.92471	.	0.367420	0.22510	N	0.059115	T	0.69287	0.3094	L	0.32530	0.975	0.80722	D	1	P;P;D	0.55385	0.837;0.952;0.971	B;P;P	0.53401	0.363;0.536;0.725	T	0.70238	-0.4927	10	0.54805	T	0.06	.	18.2644	0.90048	0.0:0.0:1.0:0.0	.	920;4535;4535	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4535;920;4535;4486;4486;1169;920	ENSP00000350719:E4535K;ENSP00000349969:E920K;ENSP00000341781:E4535K;ENSP00000452570:E4486K;ENSP00000450831:E1169K;ENSP00000378249:E920K	ENSP00000261678:E4486K	E	+	1	0	SYNE2	63662846	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	6.021000	0.70832	2.741000	0.93983	0.655000	0.94253	GAA	SYNE2	-	NULL		0.413	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64593093	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A
TAF7L	54457	genome.wustl.edu	37	X	100531425	100531425	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:100531425C>G	ENST00000372907.3	-	10	1052	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D	TAF7L_ENST00000356784.1_Missense_Mutation_p.E261D|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	347	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						catcctcatcctcatcctcat	0.423																																					Ovarian(104;431 1530 3210 15406 18594)												0													210.0	159.0	176.0					X																	100531425		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1041G>C	X.37:g.100531425C>G	ENSP00000361998:p.Glu347Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.E347D	ENST00000372907.3	37	c.1041	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	c	7.096	0.573111	0.13623	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.64085	-0.08;-0.08	4.46	-8.93	0.00771	Armadillo-like helical (1);	1.140890	0.06725	N	0.775584	T	0.40040	0.1101	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23154	-1.0196	10	0.13470	T	0.59	0.5288	1.9457	0.03356	0.1649:0.3187:0.3233:0.1931	.	347	Q5H9L4	TAF7L_HUMAN	D	347;261	ENSP00000361998:E347D;ENSP00000349235:E261D	ENSP00000349235:E261D	E	-	3	2	TAF7L	100418081	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-5.246000	0.00138	-2.323000	0.00639	-0.612000	0.04053	GAG	TAF7L	-	NULL		0.423	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	C			100531425	-1	no_errors	ENST00000372907	ensembl	human	known	70_37	missense	SNP	0.000	G
TAF7L	54457	genome.wustl.edu	37	X	100531436	100531436	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:100531436C>G	ENST00000372907.3	-	10	1041	c.1030G>C	c.(1030-1032)Gat>Cat	p.D344H	TAF7L_ENST00000356784.1_Missense_Mutation_p.D258H|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	344	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						tcatcctcatcctcatcttca	0.408																																					Ovarian(104;431 1530 3210 15406 18594)												0													209.0	162.0	178.0					X																	100531436		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1030G>C	X.37:g.100531436C>G	ENSP00000361998:p.Asp344His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.D344H	ENST00000372907.3	37	c.1030	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	c	12.80	2.045603	0.36085	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.69306	-0.39;1.36	4.31	2.46	0.29980	Armadillo-like helical (1);	0.539227	0.13826	U	0.360077	T	0.53481	0.1799	L	0.36672	1.1	0.09310	N	0.999993	B	0.25563	0.129	B	0.18561	0.022	T	0.46456	-0.9190	10	0.66056	D	0.02	-0.2151	8.4804	0.33038	0.1733:0.663:0.1637:0.0	.	344	Q5H9L4	TAF7L_HUMAN	H	344;258	ENSP00000361998:D344H;ENSP00000349235:D258H	ENSP00000349235:D258H	D	-	1	0	TAF7L	100418092	0.984000	0.35163	0.000000	0.03702	0.023000	0.10783	2.420000	0.44679	0.218000	0.20820	0.464000	0.42555	GAT	TAF7L	-	NULL		0.408	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	C			100531436	-1	no_errors	ENST00000372907	ensembl	human	known	70_37	missense	SNP	0.009	G
TAS1R2	80834	genome.wustl.edu	37	1	19166295	19166295	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:19166295G>T	ENST00000375371.3	-	6	2339	c.2318C>A	c.(2317-2319)tCc>tAc	p.S773Y		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	773					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GAGGGAGACGGATGAGGTGAA	0.572																																																	0													150.0	112.0	125.0					1																	19166295		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2318C>A	1.37:g.19166295G>T	ENSP00000364520:p.Ser773Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.S773Y	ENST00000375371.3	37	c.2318	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	G	6.108	0.388259	0.11581	.	.	ENSG00000179002	ENST00000375371	D	0.87887	-2.31	5.07	3.15	0.36227	GPCR, family 3, C-terminal (2);	0.139717	0.32935	N	0.005464	D	0.84534	0.5493	M	0.66939	2.045	0.34159	D	0.668445	B	0.17852	0.024	B	0.27608	0.081	T	0.81890	-0.0725	10	0.39692	T	0.17	.	8.7308	0.34498	0.0:0.3131:0.5254:0.1616	.	773	Q8TE23	TS1R2_HUMAN	Y	773	ENSP00000364520:S773Y	ENSP00000364520:S773Y	S	-	2	0	TAS1R2	19038882	0.930000	0.31532	0.358000	0.25811	0.361000	0.29550	1.662000	0.37418	0.510000	0.28216	0.655000	0.94253	TCC	TAS1R2	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.572	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	G			19166295	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	missense	SNP	0.917	T
TBX10	347853	genome.wustl.edu	37	11	67402529	67402529	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:67402529C>T	ENST00000335385.3	-	2	300	c.213G>A	c.(211-213)atG>atA	p.M71I		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	71					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						ACAGAGGCTTCATCTCCAGCT	0.647																																																	0													53.0	48.0	50.0					11																	67402529		2200	4294	6494	SO:0001583	missense	347853			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.213G>A	11.37:g.67402529C>T	ENSP00000335191:p.Met71Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D64|Q86XS3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.M71I	ENST00000335385.3	37	c.213	CCDS31621.1	11	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671631	0.67928	.	.	ENSG00000167800	ENST00000335385	D	0.89485	-2.52	4.55	4.55	0.56014	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.94016	0.8083	M	0.84433	2.695	0.53005	D	0.999964	P	0.52842	0.956	P	0.60682	0.878	D	0.94285	0.7523	10	0.49607	T	0.09	.	16.2283	0.82315	0.0:1.0:0.0:0.0	.	71	O75333	TBX10_HUMAN	I	71	ENSP00000335191:M71I	ENSP00000335191:M71I	M	-	3	0	TBX10	67159105	0.999000	0.42202	1.000000	0.80357	0.490000	0.33462	3.619000	0.54196	2.366000	0.80165	0.462000	0.41574	ATG	TBX10	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box		0.647	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	C	NM_005995		67402529	-1	no_errors	ENST00000335385	ensembl	human	known	70_37	missense	SNP	1.000	T
TCP10	6953	genome.wustl.edu	37	6	167787843	167787843	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:167787843C>T	ENST00000397829.4	-	7	952	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	TCP10_ENST00000366827.2_Missense_Mutation_p.R262Q	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	289						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		ACCTACCTGCCGCTCTGCACT	0.582																																																	0													36.0	40.0	38.0					6																	167787843		1882	4086	5968	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.785G>A	6.37:g.167787843C>T	ENSP00000380929:p.Arg262Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.R262Q	ENST00000397829.4	37	c.785	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585651	0.28268	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.30182	1.54;1.92	1.38	-2.57	0.06248	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39251	-0.9623	9	0.24483	T	0.36	.	0.5073	0.00590	0.175:0.1993:0.2252:0.4005	.	289;289	Q12799;Q12799-2	TCP10_HUMAN;.	Q	262	ENSP00000355792:R262Q;ENSP00000380929:R262Q	ENSP00000355792:R262Q	R	-	2	0	TCP10	167707833	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.319000	0.02702	-1.604000	0.01595	-3.175000	0.00056	CGG	TCP10	-	NULL		0.582	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	C	NM_004610		167787843	-1	no_errors	ENST00000397829	ensembl	human	known	70_37	missense	SNP	0.000	T
TGFBR1	7046	genome.wustl.edu	37	9	101900342	101900343	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:101900342_101900343TC>AT	ENST00000374994.4	+	4	893_894	c.776_777TC>AT	c.(775-777)aTC>aAT	p.I259N	TGFBR1_ENST00000552516.1_Missense_Mutation_p.I263N|TGFBR1_ENST00000374990.2_Missense_Mutation_p.I182N|TGFBR1_ENST00000550253.1_Missense_Mutation_p.I190N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CATGAAAACATCCTGGGATTTA	0.361																																																	0																																										SO:0001583	missense	7046				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	Exception_encountered	9.37:g.101900342_101900343delinsAT	ENSP00000364133:p.Ile259Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IR47|Q706C0|Q706C1	Missense_Mutation|Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I259N|p.I259	ENST00000374994.4	37	c.776|c.777	CCDS6738.1	9																																																																																			TGFBR1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.361	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR1	HGNC	protein_coding	OTTHUMT00000053390.3	T|C			101900342|101900343	+1	no_errors	ENST00000374994	ensembl	human	known	70_37	missense|silent	SNP	1.000	A|T
THAP8	199745	genome.wustl.edu	37	19	36530340	36530340	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:36530340C>G	ENST00000292894.1	-	3	1101	c.557G>C	c.(556-558)aGg>aCg	p.R186T	AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000524106.1_5'Flank|THAP8_ENST00000538849.1_Missense_Mutation_p.R41T	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	186							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGTTGCAGCCTCCGCACCCG	0.711																																																	0													7.0	7.0	7.0					19																	36530340		2174	4256	6430	SO:0001583	missense	199745			AK057453	CCDS33000.1	19q13.13	2013-01-25			ENSG00000161277	ENSG00000161277		"""THAP (C2CH-type zinc finger) domain containing"""	23191	protein-coding gene	gene with protein product		612536				12575992	Standard	NM_152658		Approved	FLJ32891	uc002oda.1	Q8NA92	OTTHUMG00000048138	ENST00000292894.1:c.557G>C	19.37:g.36530340C>G	ENSP00000292894:p.Arg186Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P5Z7|Q96M21	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R186T	ENST00000292894.1	37	c.557	CCDS33000.1	19	.	.	.	.	.	.	.	.	.	.	c	17.75	3.466739	0.63625	.	.	ENSG00000161277	ENST00000292894;ENST00000392182;ENST00000538849	D;T	0.88896	-2.44;1.27	4.54	3.49	0.39957	.	5.560930	0.01821	U	0.034070	D	0.87438	0.6177	L	0.29908	0.895	0.24271	N	0.995244	D	0.53885	0.963	P	0.53035	0.716	T	0.77096	-0.2714	10	0.17369	T	0.5	-11.8924	6.3455	0.21347	0.0:0.7916:0.0:0.2084	.	186	Q8NA92	THAP8_HUMAN	T	186;186;41	ENSP00000292894:R186T;ENSP00000445493:R41T	ENSP00000292894:R186T	R	-	2	0	THAP8	41222180	0.990000	0.36364	0.760000	0.31359	0.044000	0.14063	2.925000	0.48884	2.248000	0.74166	0.552000	0.68991	AGG	THAP8	-	NULL		0.711	THAP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP8	HGNC	protein_coding	OTTHUMT00000379036.1	C	NM_152658		36530340	-1	no_errors	ENST00000292894	ensembl	human	known	70_37	missense	SNP	0.907	G
TIAL1	7073	genome.wustl.edu	37	10	121356085	121356085	+	5'Flank	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:121356085G>A	ENST00000436547.2	-	0	0				TIAL1_ENST00000369093.2_5'Flank|TIAL1_ENST00000369092.4_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1						apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GGGGACAGAGGAAAAGGCACC	0.692																																																	0																																										SO:0001631	upstream_gene_variant	7073			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156		10.37:g.121356085G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3T0|A8K4L9	RNA	SNP	-	NULL	ENST00000436547.2	37	NULL	CCDS7613.1	10																																																																																			TIAL1	-	-		0.692	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	HGNC	protein_coding	OTTHUMT00000050672.2	G	NM_022333, NM_003252		121356085	-1	no_errors	ENST00000479729	ensembl	human	known	70_37	rna	SNP	0.988	A
TICRR	90381	genome.wustl.edu	37	15	90129033	90129033	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:90129033C>T	ENST00000268138.7	+	4	1376	c.1271C>T	c.(1270-1272)aCc>aTc	p.T424I	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.T423I			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	424					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTGTGCCGCACCAAGGAGGCT	0.537																																																	0													88.0	89.0	88.0					15																	90129033		1978	4151	6129	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1271C>T	15.37:g.90129033C>T	ENSP00000268138:p.Thr424Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.T424I	ENST00000268138.7	37	c.1271	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	5.385	0.256188	0.10185	.	.	ENSG00000140534	ENST00000268138	T	0.14893	2.47	5.24	1.0	0.19881	.	0.674977	0.15549	N	0.256510	T	0.13500	0.0327	L	0.44542	1.39	0.09310	N	1	B	0.19583	0.037	B	0.21151	0.033	T	0.20974	-1.0259	10	0.51188	T	0.08	-0.3008	6.6149	0.22771	0.0:0.6564:0.1319:0.2117	.	424	Q7Z2Z1	TICRR_HUMAN	I	424	ENSP00000268138:T424I	ENSP00000268138:T424I	T	+	2	0	C15orf42	87930037	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.045000	0.14013	0.318000	0.23185	0.637000	0.83480	ACC	TICRR	-	NULL		0.537	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90129033	+1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	0.000	T
TM9SF3	56889	genome.wustl.edu	37	10	98336426	98336426	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:98336426T>C	ENST00000371142.4	-	2	479	c.263A>G	c.(262-264)gAa>gGa	p.E88G		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	88						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AAATTCCAATTCAACCCCTTG	0.348																																																	0													127.0	130.0	129.0					10																	98336426		2203	4300	6503	SO:0001583	missense	56889			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.263A>G	10.37:g.98336426T>C	ENSP00000360184:p.Glu88Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	pfam_EMP70	p.E88G	ENST00000371142.4	37	c.263	CCDS7450.1	10	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987616	0.93106	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.46451	0.87;0.87	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.92219	3.285	0.80722	D	1	D	0.71674	0.998	D	0.63957	0.92	T	0.79157	-0.1919	10	0.87932	D	0	-21.3904	15.2037	0.73159	0.0:0.0:0.0:1.0	.	88	Q9HD45	TM9S3_HUMAN	G	88;44	ENSP00000360184:E88G;ENSP00000401152:E44G	ENSP00000360184:E88G	E	-	2	0	TM9SF3	98326416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.573000	0.82421	2.174000	0.68829	0.533000	0.62120	GAA	TM9SF3	-	pfam_EMP70		0.348	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF3	HGNC	protein_coding	OTTHUMT00000049610.2	T	NM_020123		98336426	-1	no_errors	ENST00000371142	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM184A	202915	genome.wustl.edu	37	7	1590534	1590534	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:1590534A>T	ENST00000297477.5	-	3	620	c.304T>A	c.(304-306)Ttc>Atc	p.F102I		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	102					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CAGGAGTCGAAGGCGTAGATG	0.622																																																	0													91.0	101.0	98.0					7																	1590534		2203	4300	6503	SO:0001583	missense	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.304T>A	7.37:g.1590534A>T	ENSP00000297477:p.Phe102Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBQ6	Missense_Mutation	SNP	pfam_Ost-alpha	p.F102I	ENST00000297477.5	37	c.304	CCDS43537.1	7	.	.	.	.	.	.	.	.	.	.	A	13.94	2.385732	0.42308	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.15	2.69	0.31865	.	0.000000	0.85682	U	0.000000	T	0.19927	0.0479	N	0.13098	0.295	0.80722	D	1	B	0.23128	0.08	B	0.32090	0.14	T	0.05649	-1.0872	10	0.11794	T	0.64	-5.9576	7.696	0.28596	0.7859:0.1404:0.0737:0.0	.	102	Q6ZMB5	T184A_HUMAN	I	102	ENSP00000297477:F102I;ENSP00000325945:F102I;ENSP00000398382:F102I;ENSP00000389092:F102I;ENSP00000403499:F102I	ENSP00000297477:F102I	F	-	1	0	TMEM184A	1557060	1.000000	0.71417	0.955000	0.39395	0.791000	0.44710	5.130000	0.64745	0.270000	0.21984	-0.534000	0.04291	TTC	TMEM184A	-	pfam_Ost-alpha		0.622	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	HGNC	protein_coding	OTTHUMT00000239229.4	A	NM_152689		1590534	-1	no_errors	ENST00000297477	ensembl	human	known	70_37	missense	SNP	1.000	T
TMTC3	160418	genome.wustl.edu	37	12	88560202	88560202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:88560202C>A	ENST00000266712.6	+	7	1113	c.893C>A	c.(892-894)tCa>tAa	p.S298*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	298					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTAAATCCTTCAGAGCTCTGC	0.408																																																	0													192.0	184.0	187.0					12																	88560202		2203	4300	6503	SO:0001587	stop_gained	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.893C>A	12.37:g.88560202C>A	ENSP00000266712:p.Ser298*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S298*	ENST00000266712.6	37	c.893	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.729122	0.97796	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-17.0827	18.9502	0.92638	0.0:1.0:0.0:0.0	.	.	.	.	X	298	.	ENSP00000266712:S298X	S	+	2	0	TMTC3	87084333	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	6.038000	0.70964	2.472000	0.83506	0.484000	0.47621	TCA	TMTC3	-	pfam_DUF1736		0.408	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	C	NM_181783		88560202	+1	no_errors	ENST00000266712	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TNC	3371	genome.wustl.edu	37	9	117848831	117848831	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:117848831C>A	ENST00000350763.4	-	3	1590	c.1179G>T	c.(1177-1179)gaG>gaT	p.E393D	TNC_ENST00000340094.3_Missense_Mutation_p.E393D|TNC_ENST00000346706.3_Missense_Mutation_p.E393D|TNC_ENST00000345230.3_Missense_Mutation_p.E393D|TNC_ENST00000423613.2_Missense_Mutation_p.E393D|TNC_ENST00000341037.4_Missense_Mutation_p.E393D|TNC_ENST00000535648.1_Missense_Mutation_p.E393D|TNC_ENST00000537320.1_Missense_Mutation_p.E393D|TNC_ENST00000542877.1_Missense_Mutation_p.E393D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	393	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATCATCACACTCACACCGCC	0.572																																																	0													138.0	116.0	123.0					9																	117848831		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1179G>T	9.37:g.117848831C>A	ENSP00000265131:p.Glu393Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E393D	ENST00000350763.4	37	c.1179	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320148	0.23994	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99;3.99;3.99;3.99;3.99	5.44	2.39	0.29439	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.211589	0.48767	D	0.000171	T	0.02807	0.0084	N	0.16233	0.39	0.31320	N	0.68611	P;P	0.41188	0.741;0.741	B;B	0.42462	0.388;0.388	T	0.26538	-1.0100	10	0.62326	D	0.03	.	4.6923	0.12786	0.2704:0.525:0.1312:0.0733	.	393;393	E9PC84;P24821	.;TENA_HUMAN	D	393	ENSP00000344400:E393D;ENSP00000438152:E393D;ENSP00000344555:E393D;ENSP00000345861:E393D;ENSP00000265131:E393D;ENSP00000339553:E393D;ENSP00000411406:E393D;ENSP00000443478:E393D;ENSP00000442242:E393D	ENSP00000344400:E393D	E	-	3	2	TNC	116888652	0.000000	0.05858	0.959000	0.39883	0.001000	0.01503	-0.780000	0.04654	0.767000	0.33267	-1.278000	0.01390	GAG	TNC	-	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.572	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160		117848831	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	0.996	A
TPPP	11076	genome.wustl.edu	37	5	666135	666135	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:666135C>T	ENST00000360578.5	-	3	536	c.415G>A	c.(415-417)Gag>Aag	p.E139K	CEP72_ENST00000514507.1_3'UTR|AC026740.1_ENST00000594226.1_5'Flank	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	139					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CTGTGCACCTCGCGAACGGCC	0.657																																																	0													95.0	86.0	89.0					5																	666135		2203	4300	6503	SO:0001583	missense	11076			AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.415G>A	5.37:g.666135C>T	ENSP00000353785:p.Glu139Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_P25-alpha	p.E139K	ENST00000360578.5	37	c.415	CCDS3856.1	5	.	.	.	.	.	.	.	.	.	.	c	8.215	0.801089	0.16397	.	.	ENSG00000171368	ENST00000360578	T	0.42131	0.98	4.39	3.51	0.40186	.	0.111748	0.64402	D	0.000012	T	0.28797	0.0714	L	0.51914	1.62	0.58432	D	0.999996	P	0.38565	0.637	B	0.27796	0.083	T	0.15292	-1.0442	10	0.06365	T	0.9	-56.4826	14.2434	0.65971	0.0:0.8494:0.1506:0.0	.	139	O94811	TPPP_HUMAN	K	139	ENSP00000353785:E139K	ENSP00000353785:E139K	E	-	1	0	TPPP	719135	1.000000	0.71417	0.729000	0.30791	0.001000	0.01503	3.443000	0.52907	0.958000	0.37956	-0.314000	0.08810	GAG	TPPP	-	pfam_P25-alpha		0.657	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPPP	HGNC	protein_coding	OTTHUMT00000253645.3	C	NM_007030		666135	-1	no_errors	ENST00000360578	ensembl	human	known	70_37	missense	SNP	0.997	T
TRAF3IP3	80342	genome.wustl.edu	37	1	209949009	209949009	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:209949009G>T	ENST00000367024.1	+	11	1497	c.981G>T	c.(979-981)gaG>gaT	p.E327D	TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.E63D|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E307D|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.E63D|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E307D|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E307D|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E327D			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	327						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTCTGAAGGAGGACTGGAGGA	0.617																																																	0													56.0	56.0	56.0					1																	209949009		2203	4300	6503	SO:0001583	missense	80342				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.981G>T	1.37:g.209949009G>T	ENSP00000355991:p.Glu327Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	NULL	p.E327D	ENST00000367024.1	37	c.981	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974575	0.34848	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.18;-1.18;-1.18;-1.18;-1.27;-1.27;-1.18	4.78	1.41	0.22369	.	0.328943	0.27802	N	0.017799	T	0.71921	0.3397	L	0.58101	1.795	0.35386	D	0.790315	B;B;P;P	0.49253	0.1;0.1;0.921;0.454	B;B;P;B	0.45913	0.03;0.03;0.497;0.09	T	0.73953	-0.3820	10	0.59425	D	0.04	-16.5073	4.6884	0.12769	0.348:0.1661:0.4859:0.0	.	327;307;327;307	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	D	307;327;307;327;307;63;63;63	ENSP00000383743:E307D;ENSP00000355992:E327D;ENSP00000355993:E307D;ENSP00000355991:E327D;ENSP00000010338:E307D;ENSP00000355990:E63D;ENSP00000418906:E63D;ENSP00000417417:E63D	ENSP00000010338:E307D	E	+	3	2	TRAF3IP3	208015632	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	0.441000	0.21611	0.449000	0.26747	-0.251000	0.11542	GAG	TRAF3IP3	-	NULL		0.617	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	G			209949009	+1	no_errors	ENST00000367024	ensembl	human	known	70_37	missense	SNP	0.997	T
TRIM26	7726	genome.wustl.edu	37	6	30153705	30153705	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:30153705A>G	ENST00000454678.2	-	10	2004	c.1568T>C	c.(1567-1569)gTc>gCc	p.V523A	TRIM26_ENST00000453195.1_Missense_Mutation_p.V523A|TRIM26_ENST00000437089.1_Missense_Mutation_p.V523A	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	523	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CAGGAAGGGGACCAGGCGCCG	0.592																																																	0													68.0	55.0	60.0					6																	30153705		1511	2708	4219	SO:0001583	missense	7726			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1568T>C	6.37:g.30153705A>G	ENSP00000410446:p.Val523Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG96|Q5SRL2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V523A	ENST00000454678.2	37	c.1568	CCDS4678.1	6	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305481	0.40795	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.70631	-0.5;-0.5;-0.5	5.68	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.191158	0.25307	N	0.031619	T	0.43055	0.1230	L	0.43923	1.385	0.09310	N	1	B;B	0.20164	0.017;0.042	B;B	0.26202	0.062;0.067	T	0.39251	-0.9623	10	0.46703	T	0.11	.	7.4729	0.27359	0.832:0.0:0.168:0.0	.	523;523	Q5SRL2;Q12899	.;TRI26_HUMAN	A	523	ENSP00000391879:V523A;ENSP00000410446:V523A;ENSP00000395491:V523A	ENSP00000395491:V523A	V	-	2	0	TRIM26	30261684	0.650000	0.27331	0.184000	0.23157	0.987000	0.75469	1.364000	0.34171	0.968000	0.38212	0.445000	0.29226	GTC	TRIM26	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.592	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM26	HGNC	protein_coding	OTTHUMT00000253442.1	A	NM_003449		30153705	-1	no_errors	ENST00000437089	ensembl	human	known	70_37	missense	SNP	0.030	G
TRPM6	140803	genome.wustl.edu	37	9	77427293	77427293	+	Silent	SNP	A	A	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:77427293A>G	ENST00000360774.1	-	12	1602	c.1365T>C	c.(1363-1365)ttT>ttC	p.F455F	TRPM6_ENST00000376872.3_Silent_p.F455F|TRPM6_ENST00000376871.3_Silent_p.F455F|TRPM6_ENST00000361255.3_Silent_p.F450F|TRPM6_ENST00000449912.2_Silent_p.F450F|TRPM6_ENST00000451710.3_Silent_p.F455F|TRPM6_ENST00000376864.4_Silent_p.F455F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	455					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGAGCTTCACAAAATCCACCC	0.398																																																	0													106.0	97.0	100.0					9																	77427293		2203	4300	6503	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1365T>C	9.37:g.77427293A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.F455	ENST00000360774.1	37	c.1365	CCDS6647.1	9																																																																																			TRPM6	-	NULL		0.398	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	A	NM_017662		77427293	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	silent	SNP	1.000	G
TTC39C	125488	genome.wustl.edu	37	18	21703865	21703865	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr18:21703865C>G	ENST00000317571.3	+	9	1490	c.1254C>G	c.(1252-1254)ttC>ttG	p.F418L	TTC39C_ENST00000304621.6_Missense_Mutation_p.F357L|TTC39C_ENST00000540918.2_Missense_Mutation_p.F111L|RNU5A-6P_ENST00000384136.1_RNA|RP11-799B12.2_ENST00000583782.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	418										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AGAAACTCTTCAAAAGGAAAA	0.378																																																	0													68.0	63.0	65.0					18																	21703865		2203	4300	6503	SO:0001583	missense	125488			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1254C>G	18.37:g.21703865C>G	ENSP00000323645:p.Phe418Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor	p.F418L	ENST00000317571.3	37	c.1254	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628085	0.46944	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.75589	-0.95;-0.95;-0.95	5.97	5.09	0.68999	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.65975	2.015	0.80722	D	1	B	0.20261	0.043	B	0.18871	0.023	T	0.64084	-0.6490	10	0.23891	T	0.37	.	12.7978	0.57567	0.0:0.871:0.0:0.1289	.	418	Q8N584	TT39C_HUMAN	L	357;418;111	ENSP00000306598:F357L;ENSP00000323645:F418L;ENSP00000443016:F111L	ENSP00000306598:F357L	F	+	3	2	TTC39C	19957863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.349000	0.44054	2.831000	0.97527	0.655000	0.94253	TTC	TTC39C	-	pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor		0.378	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	HGNC	protein_coding	OTTHUMT00000446107.1	C	NM_153211		21703865	+1	no_errors	ENST00000317571	ensembl	human	known	70_37	missense	SNP	1.000	G
TTF2	8458	genome.wustl.edu	37	1	117617619	117617619	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:117617619G>T	ENST00000369466.4	+	5	457	c.413G>T	c.(412-414)tGg>tTg	p.W138L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	138					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCAGCTCTCTGGAAACAGCTC	0.413																																																	0													72.0	74.0	73.0					1																	117617619		2203	4300	6503	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.413G>T	1.37:g.117617619G>T	ENSP00000358478:p.Trp138Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W138L	ENST00000369466.4	37	c.413	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174825	0.38413	.	.	ENSG00000116830	ENST00000369466	D	0.87571	-2.27	5.59	4.66	0.58398	.	0.225139	0.23180	N	0.051032	D	0.85801	0.5781	M	0.64997	1.995	0.32578	N	0.52892	P;D	0.59357	0.666;0.985	B;P	0.55824	0.162;0.785	D	0.84074	0.0381	10	0.39692	T	0.17	-1.3581	12.0064	0.53261	0.0:0.0:0.8271:0.1729	.	138;138	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	L	138	ENSP00000358478:W138L	ENSP00000358478:W138L	W	+	2	0	TTF2	117419142	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	3.648000	0.54410	1.453000	0.47775	0.557000	0.71058	TGG	TTF2	-	NULL		0.413	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	G			117617619	+1	no_errors	ENST00000369466	ensembl	human	known	70_37	missense	SNP	0.998	T
TUBG2	27175	genome.wustl.edu	37	17	40818127	40818127	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:40818127C>T	ENST00000251412.7	+	9	1065	c.866C>T	c.(865-867)aCg>aTg	p.T289M	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	289					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGGAAGACCACGGTCCTGGAT	0.612																																																	0													75.0	70.0	72.0					17																	40818127		2203	4300	6503	SO:0001583	missense	27175			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.866C>T	17.37:g.40818127C>T	ENSP00000251412:p.Thr289Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDI4|Q32NB2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.T289M	ENST00000251412.7	37	c.866	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767751	0.69878	.	.	ENSG00000037042	ENST00000251412	D	0.86030	-2.06	5.28	5.28	0.74379	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91439	0.7298	M	0.92923	3.36	0.80722	D	1	P	0.46277	0.875	P	0.47251	0.542	D	0.93555	0.6890	10	0.87932	D	0	-18.4081	18.9486	0.92632	0.0:1.0:0.0:0.0	.	289	Q9NRH3	TBG2_HUMAN	M	289	ENSP00000251412:T289M	ENSP00000251412:T289M	T	+	2	0	TUBG2	38071653	1.000000	0.71417	0.993000	0.49108	0.305000	0.27757	7.640000	0.83355	2.479000	0.83701	0.655000	0.94253	ACG	TUBG2	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin		0.612	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	C	NM_016437		40818127	+1	no_errors	ENST00000251412	ensembl	human	known	70_37	missense	SNP	1.000	T
TXNL4A	10907	genome.wustl.edu	37	18	77748266	77748266	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr18:77748266C>G	ENST00000269601.5	-	1	327	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	TXNL4A_ENST00000591711.1_Missense_Mutation_p.E43Q|TXNL4A_ENST00000588162.1_Missense_Mutation_p.E43Q|TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000592957.1_Intron	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	43					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		TACAGGACCTCGTCCATCTTC	0.677																																					Ovarian(160;2333 2597 11821 36245)												0													76.0	52.0	60.0					18																	77748266		2203	4300	6503	SO:0001583	missense	10907			AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"""similar to S. pombe dim1+"""	611595	"""thioredoxin-like 4"""	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.127G>C	18.37:g.77748266C>G	ENSP00000269601:p.Glu43Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC18|O14834	Missense_Mutation	SNP	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	p.E43Q	ENST00000269601.5	37	c.127	CCDS32852.1	18	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057315	0.76074	.	.	ENSG00000141759	ENST00000269601;ENST00000355491	.	.	.	4.45	4.45	0.53987	Thioredoxin-like fold (2);	0.112491	0.64402	U	0.000018	D	0.82323	0.5012	M	0.92122	3.275	0.80722	D	1	P;D	0.56521	0.816;0.976	P;P	0.54238	0.746;0.719	D	0.87649	0.2527	9	0.62326	D	0.03	-26.6172	17.0557	0.86533	0.0:1.0:0.0:0.0	.	43;43	O14835;P83876	.;TXN4A_HUMAN	Q	43	.	ENSP00000269601:E43Q	E	-	1	0	TXNL4A	75849254	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	6.640000	0.74319	2.181000	0.69327	0.655000	0.94253	GAG	TXNL4A	-	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5		0.677	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL4A	HGNC	protein_coding	OTTHUMT00000451036.1	C	NM_006701		77748266	-1	no_errors	ENST00000269601	ensembl	human	known	70_37	missense	SNP	1.000	G
UGT2B10	7365	genome.wustl.edu	37	4	69692191	69692191	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr4:69692191T>C	ENST00000265403.7	+	4	1090	c.1063T>C	c.(1063-1065)Tgg>Cgg	p.W355R	UGT2B10_ENST00000458688.2_Missense_Mutation_p.W271R	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	355					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACTGTACAAGTGGATACCCCA	0.398																																					Melanoma(133;755 1763 25578 26334 46021)												0													142.0	134.0	137.0					4																	69692191		2203	4300	6503	SO:0001583	missense	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1063T>C	4.37:g.69692191T>C	ENSP00000265403:p.Trp355Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.W355R	ENST00000265403.7	37	c.1063		4	.	.	.	.	.	.	.	.	.	.	t	10.97	1.501063	0.26861	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.80304	-1.36;-1.36	2.25	2.25	0.28309	.	0.000000	0.64402	U	0.000002	D	0.91129	0.7207	H	0.96547	3.84	0.31203	N	0.699504	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.88356	0.2984	10	0.87932	D	0	.	7.8245	0.29307	0.0:0.0:0.0:1.0	.	271;355	B4DPP1;P36537	.;UDB10_HUMAN	R	355;271	ENSP00000265403:W355R;ENSP00000413420:W271R	ENSP00000265403:W355R	W	+	1	0	UGT2B10	69726780	1.000000	0.71417	0.952000	0.39060	0.048000	0.14542	6.218000	0.72224	0.901000	0.36495	0.155000	0.16302	TGG	UGT2B10	-	pfam_UDP_glucos_trans		0.398	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	UGT2B10	HGNC	protein_coding	OTTHUMT00000365169.1	T	NM_001075		69692191	+1	no_errors	ENST00000265403	ensembl	human	known	70_37	missense	SNP	0.999	C
UHRF1BP1L	23074	genome.wustl.edu	37	12	100452951	100452951	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:100452951A>G	ENST00000279907.7	-	14	2316	c.2104T>C	c.(2104-2106)Tgg>Cgg	p.W702R	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.W352R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	702										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAATCTATCCAAAATTGAGAA	0.363																																																	0													76.0	83.0	81.0					12																	100452951		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2104T>C	12.37:g.100452951A>G	ENSP00000279907:p.Trp702Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.W702R	ENST00000279907.7	37	c.2104	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059364	0.55325	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.16196	2.44;2.36	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.30327	-0.9982	10	0.54805	T	0.06	-4.5418	16.1141	0.81289	1.0:0.0:0.0:0.0	.	702	A0JNW5	UH1BL_HUMAN	R	702;352	ENSP00000279907:W702R;ENSP00000444824:W352R	ENSP00000279907:W702R	W	-	1	0	UHRF1BP1L	98977082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.108000	0.94275	2.214000	0.71695	0.528000	0.53228	TGG	UHRF1BP1L	-	NULL		0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	A	NM_001006947		100452951	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	missense	SNP	1.000	G
VEPH1	79674	genome.wustl.edu	37	3	157213148	157213148	+	5'UTR	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:157213148G>A	ENST00000362010.2	-	0	298				VEPH1_ENST00000392833.2_5'UTR|VEPH1_ENST00000468233.1_5'UTR|VEPH1_ENST00000537559.1_5'UTR|VEPH1_ENST00000494677.1_5'UTR|VEPH1_ENST00000392832.2_5'UTR|VEPH1_ENST00000543418.1_5'UTR	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1							plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGGTGAGGATGAGTTTGATCA	0.423																																																	0													148.0	148.0	148.0					3																	157213148		2203	4300	6503	SO:0001623	5_prime_UTR_variant	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.-10C>T	3.37:g.157213148G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	RNA	SNP	-	NULL	ENST00000362010.2	37	NULL	CCDS3179.1	3																																																																																			VEPH1	-	-		0.423	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	G	NM_024621		157213148	-1	no_errors	ENST00000483440	ensembl	human	putative	70_37	rna	SNP	0.000	A
WASL	8976	genome.wustl.edu	37	7	123329188	123329188	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:123329188T>A	ENST00000223023.4	-	10	1696	c.1364A>T	c.(1363-1365)gAg>gTg	p.E455V		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	455					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTGTAGACTCTTGGCCATC	0.423																																																	0													149.0	147.0	148.0					7																	123329188		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1364A>T	7.37:g.123329188T>A	ENSP00000223023:p.Glu455Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A1JUI9|Q7Z746	Missense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.E455V	ENST00000223023.4	37	c.1364	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388673	0.61956	.	.	ENSG00000106299	ENST00000223023	D	0.99741	-6.6	5.29	5.29	0.74685	Wiscott-Aldrich syndrome, C-terminal (1);	0.174398	0.48767	D	0.000165	D	0.99248	0.9738	L	0.27053	0.805	0.51012	D	0.999909	D	0.67145	0.996	D	0.65010	0.931	D	0.99327	1.0908	10	0.87932	D	0	-10.598	15.2082	0.73195	0.0:0.0:0.0:1.0	.	455	O00401	WASL_HUMAN	V	455	ENSP00000223023:E455V	ENSP00000223023:E455V	E	-	2	0	WASL	123116424	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.611000	0.67674	1.983000	0.57843	0.477000	0.44152	GAG	WASL	-	superfamily_WASP_C		0.423	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	T	NM_003941		123329188	-1	no_errors	ENST00000223023	ensembl	human	known	70_37	missense	SNP	0.996	A
ZBTB7A	51341	genome.wustl.edu	37	19	4054919	4054919	+	Silent	SNP	C	C	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:4054919C>A	ENST00000322357.4	-	2	590	c.312G>T	c.(310-312)gtG>gtT	p.V104V	ZBTB7A_ENST00000601588.1_Silent_p.V104V	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	104					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGTCACCCACGTTGGCTG	0.692																																																	0													58.0	42.0	48.0					19																	4054919		2200	4298	6498	SO:0001819	synonymous_variant	51341			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.312G>T	19.37:g.4054919C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V104	ENST00000322357.4	37	c.312	CCDS12119.1	19																																																																																			ZBTB7A	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.692	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	C	NM_015898		4054919	-1	no_errors	ENST00000322357	ensembl	human	known	70_37	silent	SNP	0.789	A
ZDHHC11	79844	genome.wustl.edu	37	5	710879	710879	+	Intron	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:710879G>A	ENST00000424784.2	-	14	2007				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ATTTCCCAGTGCTGTGAGCTC	0.522																																																	0																																										SO:0001627	intron_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1236+44C>T	5.37:g.710879G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.522	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		G	NM_024786		710879	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	SNP	0.034	A
ZDHHC11	79844	genome.wustl.edu	37	5	710914	710914	+	Intron	SNP	T	T	A	rs374638240		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:710914T>A	ENST00000424784.2	-	14	2007				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGTGCTCCCATTTCCGAATAC	0.512																																																	0																																										SO:0001627	intron_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1236+9A>T	5.37:g.710914T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.512	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		T	NM_024786		710914	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	SNP	0.006	A
ZDHHC24	254359	genome.wustl.edu	37	11	66311238	66311238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:66311238G>A	ENST00000310442.3	-	2	730	c.496C>T	c.(496-498)Cga>Tga	p.R166*	ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Nonsense_Mutation_p.R166*|ACTN3_ENST00000502692.1_RNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	166	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GTGTGGGCTCGCAGCAGGGCC	0.682											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27.0	27.0	27.0					11																	66311238		2194	4290	6484	SO:0001587	stop_gained	254359			BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.496C>T	11.37:g.66311238G>A	ENSP00000309429:p.Arg166*	Somatic	1090	WXS	Illumina HiSeq	Phase_IV	Q6PEW7|Q9BSJ0	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.R166*	ENST00000310442.3	37	c.496	CCDS8143.1	11	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032516	0.93575	.	.	ENSG00000174165	ENST00000526986;ENST00000310442	.	.	.	3.91	3.91	0.45181	.	0.500271	0.19924	N	0.103025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-1.6392	11.2834	0.49208	0.0:0.0:1.0:0.0	.	.	.	.	X	166	.	ENSP00000309429:R166X	R	-	1	2	ZDHHC24	66067814	0.985000	0.35326	0.887000	0.34795	0.747000	0.42532	2.612000	0.46343	2.027000	0.59764	0.462000	0.41574	CGA	ZDHHC24	-	NULL		0.682	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC24	HGNC	protein_coding	OTTHUMT00000393089.1	G	NM_207340		66311238	-1	no_errors	ENST00000310442	ensembl	human	known	70_37	nonsense	SNP	0.997	A
ZNF333	84449	genome.wustl.edu	37	19	14830009	14830009	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:14830009G>C	ENST00000292530.6	+	12	1961	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.E515Q	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TAATCAGTGTGAGAAAGCCTT	0.493																																					NSCLC(60;75 1281 16985 25154 29885)												0													137.0	134.0	135.0					19																	14830009		2203	4300	6503	SO:0001583	missense	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1870G>C	19.37:g.14830009G>C	ENSP00000292530:p.Glu624Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E624Q	ENST00000292530.6	37	c.1870	CCDS12316.1	19	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996291	0.74818	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.07444	3.19;3.19	2.61	2.61	0.31194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11580	0.0282	N	0.24115	0.695	0.32941	D	0.518463	D	0.53462	0.96	P	0.56514	0.8	T	0.17776	-1.0358	9	0.36615	T	0.2	.	11.4031	0.49880	0.0:0.0:1.0:0.0	.	624	Q96JL9	ZN333_HUMAN	Q	515;624	ENSP00000439749:E515Q;ENSP00000292530:E624Q	ENSP00000292530:E624Q	E	+	1	0	ZNF333	14691009	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	5.244000	0.65400	1.784000	0.52394	0.655000	0.94253	GAG	ZNF333	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.493	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	HGNC	protein_coding	OTTHUMT00000466496.1	G	NM_032433		14830009	+1	no_errors	ENST00000292530	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF208	7757	genome.wustl.edu	37	19	22154844	22154844	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:22154844C>G	ENST00000397126.4	-	4	3140	c.2992G>C	c.(2992-2994)Gag>Cag	p.E998Q	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	998					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.358																																																	0													58.0	64.0	62.0					19																	22154844		2095	4237	6332	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2992G>C	19.37:g.22154844C>G	ENSP00000380315:p.Glu998Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E998Q	ENST00000397126.4	37	c.2992	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743729	0.30865	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.25912	1.77	2.58	1.47	0.22746	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46425	0.1392	.	.	.	0.26270	N	0.978432	D	0.64830	0.994	D	0.74674	0.984	T	0.29579	-1.0007	8	0.72032	D	0.01	.	9.8715	0.41177	0.0:0.7875:0.2125:0.0	.	870	O43345	ZN208_HUMAN	Q	998;870	ENSP00000380315:E998Q	ENSP00000380315:E998Q	E	-	1	0	ZNF208	21946684	0.583000	0.26757	0.033000	0.17914	0.269000	0.26545	1.582000	0.36568	0.096000	0.17463	0.289000	0.19496	GAG	ZNF208	-	pfscan_Znf_C2H2		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	C	NM_007153		22154844	-1	no_errors	ENST00000397126	ensembl	human	novel	70_37	missense	SNP	1.000	G
ZNF528	84436	genome.wustl.edu	37	19	52909224	52909224	+	Missense_Mutation	SNP	C	C	G	rs146475361		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:52909224C>G	ENST00000360465.3	+	5	506	c.80C>G	c.(79-81)cCt>cGt	p.P27R	ZNF528_ENST00000594530.1_Missense_Mutation_p.P27R|ZNF528_ENST00000598192.1_Missense_Mutation_p.P27R|ZNF528_ENST00000391788.2_Missense_Mutation_p.P17R	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGCCTGGACCCTGCGCAGAGG	0.498																																																	0													170.0	169.0	169.0					19																	52909224		2203	4300	6503	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.80C>G	19.37:g.52909224C>G	ENSP00000353652:p.Pro27Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P27R	ENST00000360465.3	37	c.80	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535617	0.27475	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465	T;T;T	0.02579	4.24;4.24;4.24	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.21103	0.0508	H	0.95780	3.72	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.04373	-1.0956	9	0.66056	D	0.02	.	11.1749	0.48593	0.0:1.0:0.0:0.0	.	27	Q3MIS6	ZN528_HUMAN	R	17;27;27	ENSP00000375665:P17R;ENSP00000375664:P27R;ENSP00000353652:P27R	ENSP00000353652:P27R	P	+	2	0	ZNF528	57601036	0.000000	0.05858	0.039000	0.18376	0.328000	0.28507	-0.321000	0.08018	1.141000	0.42275	0.491000	0.48974	CCT	ZNF528	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	C	NM_032423		52909224	+1	no_errors	ENST00000360465	ensembl	human	known	70_37	missense	SNP	0.025	G
ZNF630	57232	genome.wustl.edu	37	X	47919006	47919006	+	Silent	SNP	C	C	T	rs111973436		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:47919006C>T	ENST00000409324.3	-	5	1051	c.825G>A	c.(823-825)aaG>aaA	p.K275K	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.K261K|ZNF630_ENST00000276054.4_Silent_p.K151K	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TGAGCTGTGACTTCTTGATAA	0.388																																																	0													109.0	97.0	101.0					X																	47919006		2195	4290	6485	SO:0001819	synonymous_variant	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.825G>A	X.37:g.47919006C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAG4|Q5H8Z5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K275	ENST00000409324.3	37	c.825	CCDS35237.2	X																																																																																			ZNF630	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	C	NM_001037735		47919006	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF83	55769	genome.wustl.edu	37	19	53117245	53117245	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:53117245G>T	ENST00000597597.1	-	2	2826	c.573C>A	c.(571-573)caC>caA	p.H191Q	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.H191Q|ZNF83_ENST00000541777.2_Missense_Mutation_p.H191Q|ZNF83_ENST00000391789.4_Missense_Mutation_p.H191Q|ZNF83_ENST00000301096.3_Missense_Mutation_p.H191Q|ZNF83_ENST00000545872.1_Missense_Mutation_p.H191Q|ZNF83_ENST00000544146.1_Missense_Mutation_p.H191Q			P51522	ZNF83_HUMAN	zinc finger protein 83	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GTTGTGCAAGGTGTGAAATTT	0.378																																																	0													69.0	68.0	68.0					19																	53117245		2203	4300	6503	SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.573C>A	19.37:g.53117245G>T	ENSP00000472619:p.His191Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H191Q	ENST00000597597.1	37	c.573	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	g	0.292	-0.979353	0.02197	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	1.7	-2.31	0.06765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15219	0.0367	N	0.12527	0.23	0.09310	N	1	B;P	0.48294	0.256;0.908	B;B	0.43680	0.017;0.427	T	0.10222	-1.0639	9	0.14656	T	0.56	.	0.8281	0.01125	0.2665:0.3343:0.2309:0.1683	.	191;191	P51522-2;P51522	.;ZNF83_HUMAN	Q	191	ENSP00000445993:H191Q;ENSP00000301096:H191Q;ENSP00000445470:H191Q;ENSP00000440713:H191Q;ENSP00000439681:H191Q;ENSP00000375666:H191Q	ENSP00000301096:H191Q	H	-	3	2	ZNF83	57809057	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.294000	0.02767	-0.527000	0.06374	-0.499000	0.04595	CAC	ZNF83	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	G	NM_018300		53117245	-1	no_errors	ENST00000301096	ensembl	human	known	70_37	missense	SNP	0.000	T
