#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
ABCC12	94160	genome.wustl.edu	37	16	48139110	48139110	+	Silent	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:48139110G>A	ENST00000311303.3	-	19	2958	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Silent_p.F868F	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	871	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGTGAAGACGAAGCCTTTGG	0.537																																																	0													254.0	180.0	205.0					16																	48139110		2201	4300	6501	SO:0001819	synonymous_variant	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2613C>T	16.37:g.48139110G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.F871	ENST00000311303.3	37	c.2613	CCDS10730.1	16																																																																																			ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.537	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	G	NM_033226		48139110	-1	no_errors	ENST00000311303	ensembl	human	known	70_37	silent	SNP	0.000	A
PXYLP1	92370	genome.wustl.edu	37	3	141011697	141011697	+	Missense_Mutation	SNP	G	G	A	rs142753948		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:141011697G>A	ENST00000286353.4	+	6	1230	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000508812.1_Missense_Mutation_p.E356K|ACPL2_ENST00000502783.1_Missense_Mutation_p.E327K|ACPL2_ENST00000393010.2_Missense_Mutation_p.E365K|ACPL2_ENST00000393007.1_Missense_Mutation_p.E349K|ACPL2_ENST00000504264.1_Missense_Mutation_p.E348K	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		365						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GCGTGCCACCGAGGGCAGGAA	0.547																																																	0								G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	149.0	113.0	125.0		1093,1093	2.6	0.0	3	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACPL2	NM_001037172.1,NM_152282.3	56,56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	365/481,365/481	141011697	2,13004	2203	4300	6503	SO:0001583	missense	92370																														ENST00000286353.4:c.1093G>A	3.37:g.141011697G>A	ENSP00000286353:p.Glu365Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.E365K	ENST00000286353.4	37	c.1093	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339493	0.24339	2.27E-4	1.16E-4	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.48	2.56	0.30785	.	0.625902	0.17771	N	0.162583	T	0.14614	0.0353	N	0.20685	0.6	0.09310	N	1	B;B	0.16166	0.016;0.007	B;B	0.10450	0.005;0.005	T	0.31364	-0.9946	10	0.07813	T	0.8	.	5.7789	0.18295	0.0789:0.1313:0.6461:0.1437	.	348;365	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	K	365;327;365;348;356;349;173	ENSP00000286353:E365K;ENSP00000422558:E327K;ENSP00000376733:E365K;ENSP00000426877:E348K;ENSP00000422901:E356K;ENSP00000376731:E349K	ENSP00000286353:E365K	E	+	1	0	ACPL2	142494387	0.011000	0.17503	0.001000	0.08648	0.785000	0.44390	1.657000	0.37366	0.608000	0.30000	0.655000	0.94253	GAG	ACPL2	-	pfam_His_Pase_superF_clade-2		0.547	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	G			141011697	+1	no_errors	ENST00000286353	ensembl	human	known	70_37	missense	SNP	0.018	A
APEX2	27301	genome.wustl.edu	37	X	55028832	55028832	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:55028832G>T	ENST00000374987.3	+	3	456	c.390G>T	c.(388-390)gaG>gaT	p.E130D	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	130					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGATAGTGAGGGCAGGGCCC	0.517								Other BER factors																																									0													98.0	86.0	90.0					X																	55028832		2203	4300	6503	SO:0001583	missense	27301			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.390G>T	X.37:g.55028832G>T	ENSP00000364126:p.Glu130Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y5X7	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.E130D	ENST00000374987.3	37	c.390	CCDS14365.1	X	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052246	0.75960	.	.	ENSG00000169188	ENST00000374987	T	0.66815	-0.23	5.65	1.3	0.21679	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	M	0.91510	3.215	0.48762	D	0.999707	D	0.69078	0.997	D	0.72625	0.978	T	0.82358	-0.0497	10	0.87932	D	0	-26.099	9.6297	0.39772	0.3868:0.0:0.6132:0.0	.	130	Q9UBZ4	APEX2_HUMAN	D	130	ENSP00000364126:E130D	ENSP00000364126:E130D	E	+	3	2	APEX2	55045557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.893000	0.28336	0.253000	0.21552	0.597000	0.82753	GAG	APEX2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III		0.517	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	G			55028832	+1	no_errors	ENST00000374987	ensembl	human	known	70_37	missense	SNP	0.998	T
ARFGEF2	10564	genome.wustl.edu	37	20	47570311	47570311	+	Missense_Mutation	SNP	A	A	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr20:47570311A>T	ENST00000371917.4	+	6	822	c.822A>T	c.(820-822)agA>agT	p.R274S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	274					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCAGAGAAAGAGGCTCATCAC	0.468																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													72.0	71.0	72.0					20																	47570311		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.822A>T	20.37:g.47570311A>T	ENSP00000360985:p.Arg274Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.R274S	ENST00000371917.4	37	c.822	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	A	5.758	0.324348	0.10900	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.20738	2.05	5.76	-2.24	0.06909	Armadillo-type fold (1);	0.494459	0.22843	N	0.054951	T	0.07413	0.0187	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	10	0.08837	T	0.75	.	5.6956	0.17853	0.4692:0.2442:0.2866:0.0	.	274	Q9Y6D5	BIG2_HUMAN	S	274	ENSP00000360985:R274S	ENSP00000360985:R274S	R	+	3	2	ARFGEF2	47003718	0.581000	0.26741	0.002000	0.10522	0.172000	0.22775	0.970000	0.29383	-0.333000	0.08476	0.533000	0.62120	AGA	ARFGEF2	-	superfamily_ARM-type_fold		0.468	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	A	NM_006420		47570311	+1	no_errors	ENST00000371917	ensembl	human	known	70_37	missense	SNP	0.001	T
ARHGAP24	83478	genome.wustl.edu	37	4	86844842	86844842	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:86844842C>T	ENST00000395184.1	+	4	776	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.L9F|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.L104F	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	104	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TGAAAGCTACCTCCTCATGGC	0.478																																																	0													104.0	95.0	98.0					4																	86844842		2203	4300	6503	SO:0001583	missense	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.310C>T	4.37:g.86844842C>T	ENSP00000378611:p.Leu104Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.L104F	ENST00000395184.1	37	c.310	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.508510	0.96386	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000514229	T;T;T;T;T	0.18338	2.66;2.66;2.22;2.22;2.22	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.058694	0.64402	D	0.000001	T	0.36580	0.0972	L	0.41492	1.28	0.80722	D	1	D;D;D	0.76494	0.999;0.983;0.957	D;P;P	0.69824	0.966;0.9;0.828	T	0.01393	-1.1366	10	0.66056	D	0.02	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	9;104;104	Q8N264-3;Q8N264;Q8N264-4	.;RHG24_HUMAN;.	F	104;104;9;9;19	ENSP00000378611:L104F;ENSP00000423206:L104F;ENSP00000426105:L9F;ENSP00000378610:L9F;ENSP00000425589:L19F	ENSP00000378610:L9F	L	+	1	0	ARHGAP24	87063866	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.786000	0.85741	2.854000	0.98071	0.655000	0.94253	CTC	ARHGAP24	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.478	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	C	NM_031305		86844842	+1	no_errors	ENST00000395184	ensembl	human	known	70_37	missense	SNP	1.000	T
BAI2	576	genome.wustl.edu	37	1	32198739	32198739	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:32198739G>A	ENST00000373658.3	-	26	3799	c.3458C>T	c.(3457-3459)tCa>tTa	p.S1153L	BAI2_ENST00000398547.1_Missense_Mutation_p.S1086L|BAI2_ENST00000373655.2_Missense_Mutation_p.S1153L|BAI2_ENST00000398542.1_Missense_Mutation_p.S1053L|BAI2_ENST00000398556.3_Missense_Mutation_p.S1068L|BAI2_ENST00000527361.1_Missense_Mutation_p.S1120L|BAI2_ENST00000398538.1_Missense_Mutation_p.S1141L|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Missense_Mutation_p.S762L|BAI2_ENST00000257070.4_Missense_Mutation_p.S1120L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1153					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTCCAGAGTGAGGCCCTGAG	0.652																																																	0													30.0	26.0	28.0					1																	32198739		2198	4289	6487	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3458C>T	1.37:g.32198739G>A	ENSP00000362762:p.Ser1153Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.S1153L	ENST00000373658.3	37	c.3458	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.263108	0.95399	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.38560	1.13;1.17;1.17;1.17;1.13;1.13;1.13;1.13;1.17	4.84	4.84	0.62591	GPCR, family 2-like (1);	0.000000	0.32640	N	0.005828	T	0.58864	0.2152	L	0.45581	1.43	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.995;1.0;0.999;0.998;0.988;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.942;0.997;0.985;0.966;0.945;0.999;0.991	T	0.57820	-0.7745	10	0.44086	T	0.13	.	17.9411	0.89027	0.0:0.0:1.0:0.0	.	1120;1141;762;1068;1153;1153;1141	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	L	1068;1086;1153;1153;1053;1120;1120;762;1141	ENSP00000381564:S1068L;ENSP00000381555:S1086L;ENSP00000362762:S1153L;ENSP00000362759:S1153L;ENSP00000381550:S1053L;ENSP00000257070:S1120L;ENSP00000435397:S1120L;ENSP00000391071:S762L;ENSP00000381548:S1141L	ENSP00000257070:S1120L	S	-	2	0	BAI2	31971326	1.000000	0.71417	0.888000	0.34837	0.996000	0.88848	9.863000	0.99569	2.407000	0.81776	0.655000	0.94253	TCA	BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.652	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	G	NM_001703		32198739	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	A
MALRD1	340895	genome.wustl.edu	37	10	19676517	19676517	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr10:19676517G>T	ENST00000454679.2	+	12	2390	c.2390G>T	c.(2389-2391)aGc>aTc	p.S797I				Q5VYJ5	MALR1_HUMAN		797	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						CTGGAACAAAGCTGTAACTTC	0.408																																																	0																																										SO:0001583	missense	340895																														ENST00000454679.2:c.2390G>T	10.37:g.19676517G>T	ENSP00000412763:p.Ser797Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom	p.S797I	ENST00000454679.2	37	c.2390		10	.	.	.	.	.	.	.	.	.	.	G	6.142	0.394452	0.11638	.	.	ENSG00000204740	ENST00000377266;ENST00000454679;ENST00000441070	D;D;D	0.90844	-2.74;-2.74;-2.74	5.29	3.43	0.39272	.	.	.	.	.	D	0.91284	0.7252	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.88649	0.3181	5	.	.	.	.	11.0716	0.48006	0.0699:0.1289:0.8012:0.0	.	.	.	.	I	810;797;64	ENSP00000366477:S810I;ENSP00000412763:S797I;ENSP00000404330:S64I	.	S	+	2	0	C10orf112	19716523	0.998000	0.40836	0.851000	0.33527	0.011000	0.07611	1.701000	0.37825	0.783000	0.33636	0.655000	0.94253	AGC	C10orf112	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.408	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		G			19676517	+1	no_errors	ENST00000454679	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP53	220136	genome.wustl.edu	37	18	47753821	47753821	+	Missense_Mutation	SNP	G	G	T	rs371913662		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr18:47753821G>T	ENST00000398545.4	-	8	1592	c.1475C>A	c.(1474-1476)tCc>tAc	p.S492Y		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTGATGGGTGGACAGGACCTC	0.502																																																	0													191.0	199.0	196.0					18																	47753821		2047	4190	6237	SO:0001583	missense	220136																														ENST00000398545.4:c.1475C>A	18.37:g.47753821G>T	ENSP00000381553:p.Ser492Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S492Y	ENST00000398545.4	37	c.1475	CCDS11940.2	18	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493587	0.64186	.	.	ENSG00000172361	ENST00000398545	T	0.34275	1.37	5.39	1.32	0.21799	.	2.586540	0.01132	N	0.006015	T	0.31979	0.0814	L	0.27053	0.805	0.09310	N	1	P	0.42785	0.79	B	0.41723	0.365	T	0.34976	-0.9807	10	0.72032	D	0.01	7.1955	8.5951	0.33710	0.0876:0.51:0.4023:0.0	.	492	Q96M91	CCD11_HUMAN	Y	492	ENSP00000381553:S492Y	ENSP00000381553:S492Y	S	-	2	0	CCDC11	46007819	0.000000	0.05858	0.000000	0.03702	0.866000	0.49608	0.080000	0.14802	0.266000	0.21894	0.655000	0.94253	TCC	CCDC11	-	NULL		0.502	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	G			47753821	-1	no_errors	ENST00000398545	ensembl	human	known	70_37	missense	SNP	0.000	T
CCDC80	151887	genome.wustl.edu	37	3	112358468	112358468	+	Silent	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:112358468C>A	ENST00000206423.3	-	2	1238	c.285G>T	c.(283-285)tcG>tcT	p.S95S	CCDC80_ENST00000439685.2_Silent_p.S95S|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	95					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CATTGATGTCCGAGCGGGCTG	0.602																																																	0													63.0	63.0	63.0					3																	112358468		2203	4300	6503	SO:0001819	synonymous_variant	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.285G>T	3.37:g.112358468C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	NULL	p.S95	ENST00000206423.3	37	c.285	CCDS2968.1	3																																																																																			CCDC80	-	NULL		0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	C	NM_199511		112358468	-1	no_errors	ENST00000206423	ensembl	human	known	70_37	silent	SNP	0.001	A
CD22	933	genome.wustl.edu	37	19	35837090	35837090	+	Silent	SNP	G	G	A	rs530650512		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:35837090G>A	ENST00000085219.5	+	13	2430	c.2364G>A	c.(2362-2364)ccG>ccA	p.P788P	CD22_ENST00000341773.6_Silent_p.P611P|CD22_ENST00000594250.1_Silent_p.P611P|CD22_ENST00000419549.2_Silent_p.P616P|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_Missense_Mutation_p.G749R|CD22_ENST00000536635.2_Silent_p.P700P|CD22_ENST00000270311.6_Silent_p.P603P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	788				PD -> RT (in Ref. 1; CAA42006). {ECO:0000305}.	cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACCTCCCCCGGACTGCGATG	0.587																																					Ovarian(42;1009 1133 23674 26041)												0													109.0	94.0	99.0					19																	35837090		2203	4300	6503	SO:0001819	synonymous_variant	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2364G>A	19.37:g.35837090G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G749R	ENST00000085219.5	37	c.2245	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628317	0.28978	.	.	ENSG00000012124	ENST00000544992	T	0.41065	1.01	3.67	2.65	0.31530	.	.	.	.	.	T	0.30634	0.0771	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	8	0.66056	D	0.02	.	5.3617	0.16091	0.7559:0.0:0.2441:0.0	.	749	F5GYU4	.	R	749	ENSP00000441237:G749R	ENSP00000441237:G749R	G	+	1	0	CD22	40528930	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.026000	0.13599	0.156000	0.19299	-0.817000	0.03123	GGA	CD22	-	NULL		0.587	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	G	NM_001771		35837090	+1	no_errors	ENST00000544992	ensembl	human	novel	70_37	missense	SNP	0.000	A
CDH1	999	genome.wustl.edu	37	16	68868700	68868700	+	3'UTR	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:68868700G>T	ENST00000261769.5	+	0	4138					NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TATACTCCAGGACTTAGAATA	0.438			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0																																										SO:0001624	3_prime_UTR_variant	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.*1298G>T	16.37:g.68868700G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	RNA	SNP	-	NULL	ENST00000261769.5	37	NULL	CCDS10869.1	16																																																																																			CDH1	-	-		0.438	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	G	NM_004360		68868700	+1	no_errors	ENST00000563198	ensembl	human	known	70_37	rna	SNP	0.000	T
CDYL	9425	genome.wustl.edu	37	6	4773344	4773344	+	Intron	SNP	G	G	C			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:4773344G>C	ENST00000328908.5	+	3	317				RP3-430A16.1_ENST00000436283.1_RNA			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGCCATCGATGATCAATTGTT	0.428																																																	0																																										SO:0001627	intron_variant	9425			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.186+38266G>C	6.37:g.4773344G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	RNA	SNP	-	NULL	ENST00000328908.5	37	NULL		6																																																																																			CDYL	-	-		0.428	CDYL-001	KNOWN	basic	protein_coding	CDYL	HGNC	protein_coding	OTTHUMT00000039736.1	G	NM_004824		4773344	+1	no_errors	ENST00000483019	ensembl	human	putative	70_37	rna	SNP	0.000	C
CGB7	94027	genome.wustl.edu	37	19	49557662	49557662	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:49557662C>A	ENST00000597853.1	-	5	3255	c.384G>T	c.(382-384)ttG>ttT	p.L128F	CGB7_ENST00000596965.1_Missense_Mutation_p.L128F|CGB7_ENST00000377280.3_Missense_Mutation_p.L128F|CGB7_ENST00000356213.4_Missense_Mutation_p.L126F|CGB7_ENST00000593309.1_5'Flank			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	128					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)		CATCACAGGTCAAGGGGTGGT	0.667																																																	0													7.0	7.0	7.0					19																	49557662		1424	2459	3883	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.384G>T	19.37:g.49557662C>A	ENSP00000470813:p.Leu128Phe	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.L128F	ENST00000597853.1	37	c.384	CCDS33071.1	19	.	.	.	.	.	.	.	.	.	.	c	0.020	-1.439541	0.01098	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	D;D	0.90955	-2.76;-2.76	1.83	1.83	0.25207	Cystine knot (1);Gonadotropin, beta subunit, conserved site (1);	1.313780	0.05704	N	0.594705	D	0.87075	0.6087	.	.	.	0.22342	N	0.999189	B;D	0.60575	0.053;0.988	B;P	0.51895	0.058;0.683	T	0.76942	-0.2772	9	0.10111	T	0.7	-14.1353	7.1359	0.25527	0.0:1.0:0.0:0.0	.	126;158	F5H162;A6NKQ9	.;CGB1_HUMAN	F	128;126	ENSP00000366493:L128F;ENSP00000348545:L126F	ENSP00000348545:L126F	L	-	3	2	CGB7	54249474	0.002000	0.14202	0.462000	0.27118	0.152000	0.21847	0.724000	0.25954	1.318000	0.45170	0.197000	0.17608	TTG	CGB7	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.667	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CGB7	HGNC	protein_coding	OTTHUMT00000466254.1	C	NM_033142		49557662	-1	no_errors	ENST00000377280	ensembl	human	known	70_37	missense	SNP	0.731	A
CNTN5	53942	genome.wustl.edu	37	11	100126641	100126641	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:100126641G>A	ENST00000524871.1	+	17	2445	c.2155G>A	c.(2155-2157)Gta>Ata	p.V719I	CNTN5_ENST00000418526.2_Missense_Mutation_p.V645I|CNTN5_ENST00000528682.1_Missense_Mutation_p.V719I|CNTN5_ENST00000527185.1_Missense_Mutation_p.V719I|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.V719I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	719	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTGGCAAACAGTAAAGACAGG	0.473																																																	0													79.0	85.0	83.0					11																	100126641		1962	4144	6106	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2155G>A	11.37:g.100126641G>A	ENSP00000435637:p.Val719Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V719I	ENST00000524871.1	37	c.2155	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076330	0.76415	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	M	0.76433	2.335	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	T	0.76318	-0.3003	10	0.72032	D	0.01	.	18.0572	0.89366	0.0:0.0:1.0:0.0	.	645;719	O94779-2;O94779	.;CNTN5_HUMAN	I	719;719;719;645;719	ENSP00000433575:V719I;ENSP00000436185:V719I;ENSP00000435637:V719I;ENSP00000393229:V645I;ENSP00000279463:V719I	ENSP00000279463:V719I	V	+	1	0	CNTN5	99631851	1.000000	0.71417	0.882000	0.34594	0.527000	0.34593	9.476000	0.97823	2.513000	0.84729	0.561000	0.74099	GTA	CNTN5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	G	NM_014361		100126641	+1	no_errors	ENST00000279463	ensembl	human	known	70_37	missense	SNP	1.000	A
COL19A1	1310	genome.wustl.edu	37	6	70894806	70894806	+	Splice_Site	SNP	G	G	T	rs141121240		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:70894806G>T	ENST00000322773.4	+	46	2957	c.2855G>T	c.(2854-2856)cGt>cTt	p.R952L	COL19A1_ENST00000393344.1_Splice_Site_p.R574L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	952	Collagen-like 11.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAGGAGAACGTGTATGTATA	0.408																																																	0													181.0	170.0	174.0					6																	70894806		2203	4300	6503	SO:0001630	splice_region_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2856+1G>T	6.37:g.70894806G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R952L	ENST00000322773.4	37	c.2855	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232328	0.79688	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.96200	-3.94;-3.94	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.96081	0.8723	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94118	0.7377	10	0.29301	T	0.29	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	952	Q14993	COJA1_HUMAN	L	952;574;27	ENSP00000316030:R952L;ENSP00000377013:R574L	ENSP00000316030:R952L	R	+	2	0	COL19A1	70951527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.027000	0.88791	2.941000	0.99782	0.655000	0.94253	CGT	COL19A1	-	pfam_Collagen		0.408	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G		Missense_Mutation	70894806	+1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A3BP	10087	genome.wustl.edu	37	5	74722305	74722306	+	Splice_Site	INS	-	-	A	rs540751366	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:74722305_74722306insA	ENST00000405807.4	-	4	770		c.e4-2		COL4A3BP_ENST00000261415.7_Splice_Site|COL4A3BP_ENST00000380494.5_Splice_Site	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AGATTCAGTCTAAAAAAAAAAG	0.366																																																	0																																										SO:0001630	splice_region_variant	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.349-2->T	5.37:g.74722315_74722315dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	INS	-	e5-2	ENST00000405807.4	37	c.733-3_733-2	CCDS4028.1	5																																																																																			COL4A3BP	-	-		0.366	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	-	NM_005713	Intron	74722306	-1	no_errors	ENST00000380494	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.996	A
CSMD2	114784	genome.wustl.edu	37	1	34112290	34112290	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:34112290C>T	ENST00000373380.1	-	8	1571	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.D1578N			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1538	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGATGCATCGCTGCGGAAG	0.572																																																	0													99.0	92.0	94.0					1																	34112290		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1351G>A	1.37:g.34112290C>T	ENSP00000362478:p.Asp451Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D1578N	ENST00000373380.1	37	c.4732		1	.	.	.	.	.	.	.	.	.	.	C	36	5.905890	0.97087	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.38887	1.11;1.11	5.95	5.95	0.96441	CUB (5);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.989	D;D;P	0.81914	0.968;0.995;0.837	T	0.68322	-0.5439	10	0.45353	T	0.12	.	19.3736	0.94500	0.0:1.0:0.0:0.0	.	451;1538;1578	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	N	1578;451	ENSP00000362479:D1578N;ENSP00000362478:D451N	ENSP00000241312:D1538N	D	-	1	0	CSMD2	33884877	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	GAT	CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.572	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	C	NM_052896		34112290	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	missense	SNP	1.000	T
DAP3	7818	genome.wustl.edu	37	1	155697372	155697372	+	Intron	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:155697372G>A	ENST00000368336.5	+	7	596				MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Intron|DAP3_ENST00000421487.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471642.2_Intron|DAP3_ENST00000535183.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3						apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCCTGGCTTGTTTTCTTCTG	0.343																																																	0													70.0	72.0	71.0					1																	155697372		2203	4300	6503	SO:0001627	intron_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.473-27G>A	1.37:g.155697372G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	RNA	SNP	-	NULL	ENST00000368336.5	37	NULL	CCDS1120.1	1																																																																																			DAP3	-	-		0.343	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	G	NM_004632		155697372	+1	no_errors	ENST00000466384	ensembl	human	known	70_37	rna	SNP	0.000	A
DDX43	55510	genome.wustl.edu	37	6	74117275	74117275	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:74117275C>A	ENST00000370336.4	+	8	1132	c.974C>A	c.(973-975)aCt>aAt	p.T325N	DDX43_ENST00000539829.1_3'UTR|DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	325	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTAACTCCCACTCGGGAATTA	0.383																																																	0													143.0	154.0	150.0					6																	74117275		2203	4300	6503	SO:0001583	missense	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.974C>A	6.37:g.74117275C>A	ENSP00000359361:p.Thr325Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0C8|Q6NXR1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T325N	ENST00000370336.4	37	c.974	CCDS4977.1	6	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233383	0.39498	.	.	ENSG00000080007	ENST00000370336	T	0.19806	2.12	4.91	4.03	0.46877	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68588	-0.5369	10	0.87932	D	0	-0.0775	14.5456	0.68027	0.0:0.8521:0.1479:0.0	.	325	Q9NXZ2	DDX43_HUMAN	N	325	ENSP00000359361:T325N	ENSP00000359361:T325N	T	+	2	0	DDX43	74173996	1.000000	0.71417	0.009000	0.14445	0.011000	0.07611	6.514000	0.73746	1.179000	0.42884	0.655000	0.94253	ACT	DDX43	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.383	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3	C	NM_018665		74117275	+1	no_errors	ENST00000370336	ensembl	human	known	70_37	missense	SNP	0.879	A
DDX46	9879	genome.wustl.edu	37	5	134120125	134120125	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:134120125G>C	ENST00000354283.4	+	10	1371	c.1236G>C	c.(1234-1236)ttG>ttC	p.L412F	DDX46_ENST00000452510.2_Missense_Mutation_p.L412F|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	412	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACGAGATTTGATTGGCATTG	0.443																																					Colon(13;391 453 4901 21675 24897)												0													117.0	116.0	117.0					5																	134120125		2203	4300	6503	SO:0001583	missense	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1236G>C	5.37:g.134120125G>C	ENSP00000346236:p.Leu412Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L412F	ENST00000354283.4	37	c.1236	CCDS34240.1	5	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413016	0.62511	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.27402	1.67;1.67	5.93	5.07	0.68467	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.64567	1.98	0.80722	D	1	P	0.42649	0.786	P	0.48089	0.566	T	0.28776	-1.0033	10	0.72032	D	0.01	-9.3081	6.9602	0.24593	0.1418:0.0:0.7165:0.1417	.	412	Q7L014	DDX46_HUMAN	F	412	ENSP00000416534:L412F;ENSP00000346236:L412F	ENSP00000346236:L412F	L	+	3	2	DDX46	134148024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.401000	0.44513	1.508000	0.48769	0.655000	0.94253	TTG	DDX46	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.443	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	G	NM_014829		134120125	+1	no_errors	ENST00000452510	ensembl	human	known	70_37	missense	SNP	1.000	C
DENND5A	23258	genome.wustl.edu	37	11	9182287	9182287	+	Silent	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:9182287G>T	ENST00000328194.3	-	12	2729	c.2409C>A	c.(2407-2409)atC>atA	p.I803I	DENND5A_ENST00000530044.1_Silent_p.I803I|DENND5A_ENST00000527700.1_Silent_p.I146I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	803	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATGACTCCAGATCCTTTCCA	0.493																																																	0													175.0	135.0	148.0					11																	9182287		2201	4296	6497	SO:0001819	synonymous_variant	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2409C>A	11.37:g.9182287G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.I803	ENST00000328194.3	37	c.2409	CCDS31423.1	11																																																																																			DENND5A	-	pfam_Run,pfscan_Run		0.493	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	G	NM_015213		9182287	-1	no_errors	ENST00000328194	ensembl	human	known	70_37	silent	SNP	0.976	T
DIEXF	27042	genome.wustl.edu	37	1	210016849	210016849	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:210016849C>A	ENST00000491415.2	+	11	1892	c.1835C>A	c.(1834-1836)tCt>tAt	p.S612Y		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	612					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GCAGTCATGTCTCACACGCTC	0.408																																																	0													126.0	107.0	114.0					1																	210016849		2203	4300	6503	SO:0001583	missense	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1835C>A	1.37:g.210016849C>A	ENSP00000419005:p.Ser612Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd	p.S612Y	ENST00000491415.2	37	c.1835	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599820	0.87055	.	.	ENSG00000117597	ENST00000491415	T	0.49720	0.77	5.79	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.80616	2.505	0.80722	D	1	D	0.58620	0.983	P	0.61874	0.895	T	0.73075	-0.4097	10	0.66056	D	0.02	-17.9899	14.7022	0.69164	0.0:0.9308:0.0:0.0692	.	612	Q68CQ4	DIEXF_HUMAN	Y	612	ENSP00000419005:S612Y	ENSP00000419005:S612Y	S	+	2	0	DIEXF	208083472	1.000000	0.71417	0.940000	0.37924	0.998000	0.95712	7.642000	0.83385	1.454000	0.47793	0.655000	0.94253	TCT	DIEXF	-	pfam_Digest_organ_expansion_fac-prd		0.408	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	C	NM_014388		210016849	+1	no_errors	ENST00000491415	ensembl	human	known	70_37	missense	SNP	1.000	A
DMD	1756	genome.wustl.edu	37	X	32632545	32632545	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:32632545G>T	ENST00000357033.4	-	12	1563	c.1357C>A	c.(1357-1359)Cag>Aag	p.Q453K	DMD_ENST00000288447.4_Missense_Mutation_p.Q445K|DMD_ENST00000378677.2_Missense_Mutation_p.Q449K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	453					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTGATTCTGGAGATCCATT	0.348																																																	0													152.0	124.0	133.0					X																	32632545		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1357C>A	X.37:g.32632545G>T	ENSP00000354923:p.Gln453Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q453K	ENST00000357033.4	37	c.1357	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486820	0.84854	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.50277	0.75;0.75;0.75	5.62	5.62	0.85841	.	0.000000	0.33572	U	0.004771	T	0.72028	0.3410	M	0.82716	2.605	0.80722	D	1	D;P;D;D	0.69078	0.997;0.954;0.996;0.963	D;D;D;D	0.81914	0.987;0.954;0.995;0.973	T	0.75648	-0.3245	10	0.62326	D	0.03	.	17.5124	0.87764	0.0:0.0:1.0:0.0	.	445;445;453;449	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	445;449;453;453;330;445	ENSP00000367948:Q449K;ENSP00000354923:Q453K;ENSP00000288447:Q445K	ENSP00000288447:Q445K	Q	-	1	0	DMD	32542466	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.782000	0.85680	2.493000	0.84123	0.594000	0.82650	CAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32632545	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH6	1768	genome.wustl.edu	37	2	84880959	84880959	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr2:84880959G>T	ENST00000237449.6	+	33	5603	c.5595G>T	c.(5593-5595)gaG>gaT	p.E1865D	DNAH6_ENST00000398278.2_Missense_Mutation_p.E1865D|DNAH6_ENST00000389394.3_Missense_Mutation_p.E1865D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1865	AAA 2. {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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTAACAGTGAGAGGATTAAAC	0.378																																																	0													124.0	103.0	109.0					2																	84880959		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.5595G>T	2.37:g.84880959G>T	ENSP00000237449:p.Glu1865Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1865D	ENST00000237449.6	37	c.5595	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520539	0.64747	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	D;D;D	0.91740	-2.9;-2.9;-2.9	5.38	2.54	0.30619	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	D	0.95194	0.8442	M	0.84433	2.695	0.32498	N	0.539191	D	0.63880	0.993	D	0.67382	0.951	D	0.94087	0.7349	9	0.87932	D	0	.	8.1178	0.30953	0.3136:0.0:0.6864:0.0	.	1865	Q9C0G6	DYH6_HUMAN	D	1865	ENSP00000374045:E1865D;ENSP00000381326:E1865D;ENSP00000237449:E1865D	ENSP00000237449:E1865D	E	+	3	2	DNAH6	84734470	0.721000	0.28007	1.000000	0.80357	0.998000	0.95712	-0.055000	0.11807	1.254000	0.44035	0.544000	0.68410	GAG	DNAH6	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84880959	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK2	1794	genome.wustl.edu	37	5	169143268	169143268	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:169143268C>A	ENST00000256935.8	+	20	2073	c.1993C>A	c.(1993-1995)Caa>Aaa	p.Q665K	DOCK2_ENST00000520908.1_Missense_Mutation_p.Q157K|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	665					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCATTCTCAAAGTGATGA	0.403																																																	0													152.0	132.0	138.0					5																	169143268		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1993C>A	5.37:g.169143268C>A	ENSP00000256935:p.Gln665Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.Q665K	ENST00000256935.8	37	c.1993	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206580	0.58343	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.19806	2.12;2.12	5.39	5.39	0.77823	.	0.107799	0.64402	D	0.000005	T	0.17789	0.0427	L	0.31752	0.955	0.80722	D	1	B;B	0.28971	0.229;0.189	B;B	0.26864	0.074;0.058	T	0.05517	-1.0880	10	0.18710	T	0.47	.	19.1719	0.93581	0.0:1.0:0.0:0.0	.	157;665	E7ERW7;Q92608	.;DOCK2_HUMAN	K	665;157	ENSP00000256935:Q665K;ENSP00000429283:Q157K	ENSP00000256935:Q665K	Q	+	1	0	DOCK2	169075846	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.022000	0.41030	2.534000	0.85438	0.655000	0.94253	CAA	DOCK2	-	superfamily_ARM-type_fold		0.403	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	C	NM_004946		169143268	+1	no_errors	ENST00000256935	ensembl	human	known	70_37	missense	SNP	1.000	A
DYNC1H1	1778	genome.wustl.edu	37	14	102476247	102476247	+	Silent	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr14:102476247C>T	ENST00000360184.4	+	30	6209	c.6045C>T	c.(6043-6045)ttC>ttT	p.F2015F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2015	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGCCATCTTCATCACCATGA	0.527																																																	0													66.0	63.0	64.0					14																	102476247		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6045C>T	14.37:g.102476247C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.F2015	ENST00000360184.4	37	c.6045	CCDS9966.1	14																																																																																			DYNC1H1	-	smart_AAA+_ATPase		0.527	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	C	NM_001376		102476247	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	1.000	T
DYNC1H1	1778	genome.wustl.edu	37	14	102476369	102476369	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr14:102476369C>T	ENST00000360184.4	+	30	6331	c.6167C>T	c.(6166-6168)tCa>tTa	p.S2056L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2056	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGCTGTACTCACAGGGTTTC	0.488																																																	0													60.0	60.0	60.0					14																	102476369		2203	4299	6502	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6167C>T	14.37:g.102476369C>T	ENSP00000348965:p.Ser2056Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.S2056L	ENST00000360184.4	37	c.6167	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.710837	0.96821	.	.	ENSG00000197102	ENST00000360184	T	0.36157	1.27	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83316	-0.0020	10	0.87932	D	0	.	20.1669	0.98153	0.0:1.0:0.0:0.0	.	2056	Q14204	DYHC1_HUMAN	L	2056	ENSP00000348965:S2056L	ENSP00000348965:S2056L	S	+	2	0	DYNC1H1	101546122	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.770000	0.85390	2.770000	0.95276	0.650000	0.86243	TCA	DYNC1H1	-	NULL		0.488	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	C	NM_001376		102476369	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	T
RPS8	6202	genome.wustl.edu	37	1	45241245	45241246	+	5'UTR	DEL	TC	TC	-			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:45241245_45241246delTC	ENST00000396651.3	+	0	137_138				RPS8_ENST00000372209.3_5'UTR|SNORD38B_ENST00000384690.1_RNA|SNORD38A_ENST00000365161.1_RNA|SNORD55_ENST00000581525.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|SNORD46_ENST00000364043.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					CTTTGCGGTTTCTCTTTCCAGC	0.564																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.-23TC>-	1.37:g.45241247_45241248delTC		Somatic		WXS	Illumina HiSeq	Phase_IV	P09058|Q6IRL7	RNA	DEL	-	NULL	ENST00000396651.3	37	NULL	CCDS513.1	1																																																																																			RP11-269F19.2	-	-		0.564	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225721	Clone_based_vega_gene	protein_coding	OTTHUMT00000023439.1	TC	NM_001012		45241246	-1	no_errors	ENST00000428791	ensembl	human	known	70_37	rna	DEL	0.981:1.000	-
LOC101927648	101927648	genome.wustl.edu	37	1	143465137	143465137	+	lincRNA	SNP	G	G	A	rs143254042	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:143465137G>A	ENST00000423249.1	-	0	59																											ttccaatcacgtaacaaacat	0.418																																																	0																																												0																															1.37:g.143465137G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000423249.1	37	NULL		1																																																																																			BX004987.4	-	-		0.418	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000185044	Clone_based_vega_gene	lincRNA	OTTHUMT00000037552.1	G			143465137	-1	no_errors	ENST00000419027	ensembl	human	known	70_37	rna	SNP	0.004	A
AFF3	3899	genome.wustl.edu	37	2	100721880	100721880	+	Intron	SNP	G	G	A	rs559345515	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr2:100721880G>A	ENST00000317233.4	-	2	172				AC092667.2_ENST00000434301.1_RNA|AFF3_ENST00000409579.1_Intron|AFF3_ENST00000409236.2_5'Flank|AFF3_ENST00000356421.2_Intron	NM_002285.2	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCTGCTCTCCGTTGCGGTTTG	0.587																																																	0																																										SO:0001627	intron_variant	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000317233.4:c.63+85C>T	2.37:g.100721880G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	RNA	SNP	-	NULL	ENST00000317233.4	37	NULL	CCDS42723.1	2																																																																																			AC092667.2	-	-		0.587	AFF3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000230393	Clone_based_vega_gene	protein_coding		G	NM_002285		100721880	+1	no_errors	ENST00000434301	ensembl	human	known	70_37	rna	SNP	0.001	A
IDS	3423	genome.wustl.edu	37	X	148607378	148607378	+	Intron	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:148607378C>T	ENST00000422081.2	-	3	1197				LINC00893_ENST00000609369.1_RNA|LINC00893_ENST00000596412.2_RNA|IDS_ENST00000427113.2_Intron|LINC00893_ENST00000412882.1_RNA|IDS_ENST00000541269.1_Intron|AF011889.2_ENST00000370438.2_lincRNA|LINC00893_ENST00000437981.1_RNA|LINC00893_ENST00000431025.1_RNA			P22304	IDS_HUMAN	iduronate 2-sulfatase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGGGTGCACGCTGGAAACT	0.567																																																	0																																										SO:0001627	intron_variant	0			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000422081.2:c.214+3525G>A	X.37:g.148607378C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWT4|Q14604|Q9BRM3	RNA	SNP	-	NULL	ENST00000422081.2	37	NULL		X																																																																																			AF011889.2	-	-		0.567	IDS-006	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000238039	Clone_based_vega_gene	protein_coding	OTTHUMT00000058694.2	C			148607378	-1	no_errors	ENST00000370438	ensembl	human	known	70_37	rna	SNP	0.988	T
MPRIP	23164	genome.wustl.edu	37	17	17071929	17071929	+	Intron	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr17:17071929G>A	ENST00000341712.4	+	16	2163				RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Intron|RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000395804.3_Intron			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGGTGGGCTGAGTGGAGGCC	0.572																																																	0																																										SO:0001627	intron_variant	0			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2164-3103G>A	17.37:g.17071929G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	RNA	SNP	-	NULL	ENST00000341712.4	37	NULL	CCDS32578.1	17																																																																																			RP11-45M22.3	-	-		0.572	MPRIP-002	KNOWN	basic|CCDS	protein_coding	ENSG00000263624	Clone_based_vega_gene	protein_coding	OTTHUMT00000131587.1	G	NM_015134		17071929	-1	no_errors	ENST00000584203	ensembl	human	known	70_37	rna	SNP	0.000	A
HSPB6	126393	genome.wustl.edu	37	19	36243396	36243396	+	IGR	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:36243396C>T	ENST00000592984.1	-	0	1634				AC002398.9_ENST00000591613.2_Intron|AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Intron|AC002398.11_ENST00000591091.1_RNA			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGAGTTTTTCTGATTGGATT	0.537																																																	0													120.0	121.0	121.0					19																	36243396		1966	4141	6107	SO:0001628	intergenic_variant	0			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36243396C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14551|Q6NVI3|Q96MG9	RNA	SNP	-	NULL	ENST00000592984.1	37	NULL	CCDS12475.1	19																																																																																			AC002398.11	-	-		0.537	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267439	Clone_based_vega_gene	protein_coding	OTTHUMT00000109498.3	C	NM_144617		36243396	-1	no_errors	ENST00000591091	ensembl	human	known	70_37	rna	SNP	0.000	T
EPS8L2	64787	genome.wustl.edu	37	11	726667	726667	+	Silent	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:726667C>T	ENST00000533256.1	+	21	2358	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	EPS8L2_ENST00000530636.1_Silent_p.L661L|EPS8L2_ENST00000318562.8_Silent_p.L661L|EPS8L2_ENST00000534449.1_3'UTR|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.L677L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	661					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTTCTCCCTCAACAAGGAGG	0.677																																																	0													18.0	19.0	19.0					11																	726667		2165	4254	6419	SO:0001819	synonymous_variant	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1983C>T	11.37:g.726667C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.L661	ENST00000533256.1	37	c.1983	CCDS31328.1	11																																																																																			EPS8L2	-	superfamily_SAM/pointed		0.677	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPS8L2	HGNC	protein_coding	OTTHUMT00000382344.1	C	NM_022772		726667	+1	no_errors	ENST00000318562	ensembl	human	known	70_37	silent	SNP	0.987	T
ESD	2098	genome.wustl.edu	37	13	47354125	47354125	+	Missense_Mutation	SNP	G	G	T	rs369918622		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr13:47354125G>T	ENST00000378720.3	-	8	727	c.545C>A	c.(544-546)cCc>cAc	p.P182H	ESD_ENST00000378697.1_Missense_Mutation_p.P153H|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	182					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TTTGCCCCAGGGACAGAGTAC	0.343																																																	0													102.0	102.0	102.0					13																	47354125		2203	4300	6503	SO:0001583	missense	2098			M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.545C>A	13.37:g.47354125G>T	ENSP00000367992:p.Pro182His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	pfam_Esterase_put,pfam_Peptidase_S9,pfam_AXE1,tigrfam_S-formylglutathione_hydrol	p.P182H	ENST00000378720.3	37	c.545	CCDS9404.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.267571|4.267571	0.80469|0.80469	.|.	.|.	ENSG00000139684|ENSG00000139684	ENST00000378720;ENST00000378697|ENST00000412582	T;T|T	0.33654|0.32753	1.4;1.4|1.44	6.16|6.16	4.36|4.36	0.52297|0.52297	.|.	0.419757|0.419757	0.27754|0.27754	N|N	0.017998|0.017998	T|T	0.60287|0.60287	0.2257|0.2257	H|H	0.96333|0.96333	3.805|3.805	0.41672|0.41672	D|D	0.98924|0.98924	P|.	0.52316|.	0.952|.	P|.	0.56343|.	0.796|.	T|T	0.64863|0.64863	-0.6307|-0.6307	10|8	0.87932|0.87932	D|D	0|0	-1.8049|-1.8049	5.8432|5.8432	0.18645|0.18645	0.0789:0.1359:0.6445:0.1406|0.0789:0.1359:0.6445:0.1406	.|.	182|.	P10768|.	ESTD_HUMAN|.	H|T	182;153|130	ENSP00000367992:P182H;ENSP00000367969:P153H|ENSP00000391350:P130T	ENSP00000367969:P153H|ENSP00000391350:P130T	P|P	-|-	2|1	0|0	ESD|ESD	46252126|46252126	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.995000|0.995000	0.86356|0.86356	4.550000|4.550000	0.60733|0.60733	0.859000|0.859000	0.35456|0.35456	0.650000|0.650000	0.86243|0.86243	CCC|CCT	ESD	-	pfam_Esterase_put,pfam_Peptidase_S9,tigrfam_S-formylglutathione_hydrol		0.343	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESD	HGNC	protein_coding	OTTHUMT00000044826.1	G			47354125	-1	no_errors	ENST00000378720	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM122A	116224	genome.wustl.edu	37	9	71395260	71395260	+	Silent	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr9:71395260G>A	ENST00000394264.3	+	1	297	c.180G>A	c.(178-180)cgG>cgA	p.R60R	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	60										endometrium(1)|lung(2)	3						GCGCCAGGCGGAACAGCACAA	0.692																																																	0													26.0	31.0	29.0					9																	71395260		2196	4287	6483	SO:0001819	synonymous_variant	116224			AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.180G>A	9.37:g.71395260G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.R60	ENST00000394264.3	37	c.180	CCDS6623.1	9																																																																																			FAM122A	-	NULL		0.692	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM122A	HGNC	protein_coding	OTTHUMT00000052556.1	G	NM_138333		71395260	+1	no_errors	ENST00000394264	ensembl	human	known	70_37	silent	SNP	0.995	A
FARS2	10667	genome.wustl.edu	37	6	5368821	5368821	+	Silent	SNP	C	C	G			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:5368821C>G	ENST00000324331.6	+	2	354	c.18C>G	c.(16-18)ctC>ctG	p.L6L	FARS2_ENST00000274680.4_Silent_p.L6L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	6					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GCTCAGCTCTCAGGAGAGGTG	0.547																																																	0													76.0	75.0	75.0					6																	5368821		2203	4300	6503	SO:0001819	synonymous_variant	10667			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.18C>G	6.37:g.5368821C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Silent	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito	p.L6	ENST00000324331.6	37	c.18	CCDS4494.1	6																																																																																			FARS2	-	NULL		0.547	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FARS2	HGNC	protein_coding	OTTHUMT00000467790.1	C	NM_006567		5368821	+1	no_errors	ENST00000274680	ensembl	human	known	70_37	silent	SNP	0.002	G
FAT4	79633	genome.wustl.edu	37	4	126411466	126411466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:126411466G>T	ENST00000394329.3	+	17	13502	c.13489G>T	c.(13489-13491)Gag>Tag	p.E4497*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E2738*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4497					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGCCCTGAAGAGATCTCTCT	0.602																																																	0													81.0	80.0	80.0					4																	126411466		2203	4300	6503	SO:0001587	stop_gained	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13489G>T	4.37:g.126411466G>T	ENSP00000377862:p.Glu4497*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E4497*	ENST00000394329.3	37	c.13489	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	53	21.289040	0.99939	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.17	5.17	0.71159	.	0.000000	0.34676	U	0.003761	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	17.6678	0.88208	0.0:0.0:1.0:0.0	.	.	.	.	X	4497;2738	.	ENSP00000335169:E2738X	E	+	1	0	FAT4	126630916	1.000000	0.71417	0.993000	0.49108	0.753000	0.42808	3.628000	0.54259	2.395000	0.81488	0.561000	0.74099	GAG	FAT4	-	NULL		0.602	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126411466	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	nonsense	SNP	0.996	T
FBXO16	157574	genome.wustl.edu	37	8	28314370	28314370	+	Silent	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr8:28314370G>T	ENST00000380254.2	-	5	568	c.420C>A	c.(418-420)atC>atA	p.I140I	FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Silent_p.I128I|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Silent_p.I128I	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	140										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GAGAGAAATTGATGTACCAGT	0.408																																																	0													115.0	108.0	110.0					8																	28314370		2203	4300	6503	SO:0001819	synonymous_variant	157574			AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.420C>A	8.37:g.28314370G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3T1B2|Q3T1B3|Q3T1B4	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.I140	ENST00000380254.2	37	c.420	CCDS6068.1	8																																																																																			FBXO16	-	superfamily_F-box_dom_cyclin-like		0.408	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO16	HGNC	protein_coding	OTTHUMT00000219988.2	G	NM_172366		28314370	-1	no_errors	ENST00000521548	ensembl	human	known	70_37	silent	SNP	0.970	T
FCGBP	8857	genome.wustl.edu	37	19	40357710	40357710	+	Silent	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:40357710G>T	ENST00000221347.6	-	34	15610	c.15603C>A	c.(15601-15603)tcC>tcA	p.S5201S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5201	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGAGCTTGAGGAACAGGAAC	0.597																																																	0													68.0	56.0	60.0					19																	40357710		2203	4300	6503	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15603C>A	19.37:g.40357710G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.S5201	ENST00000221347.6	37	c.15603	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWC_out		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40357710	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.385	T
GNPTAB	79158	genome.wustl.edu	37	12	102160054	102160054	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr12:102160054C>A	ENST00000299314.7	-	12	1689	c.1427G>T	c.(1426-1428)cGc>cTc	p.R476L	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	476	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TGCAATATAGCGACTCCCTCC	0.483																																																	0													113.0	103.0	107.0					12																	102160054		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1427G>T	12.37:g.102160054C>A	ENSP00000299314:p.Arg476Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.R476L	ENST00000299314.7	37	c.1427	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942581	0.53079	.	.	ENSG00000111670	ENST00000299314	D	0.96554	-4.05	5.44	5.44	0.79542	.	0.055754	0.64402	D	0.000001	D	0.93936	0.8059	L	0.34521	1.04	0.80722	D	1	P	0.47350	0.894	B	0.42555	0.391	D	0.94555	0.7757	10	0.62326	D	0.03	-16.3495	17.8192	0.88645	0.0:1.0:0.0:0.0	.	476	Q3T906	GNPTA_HUMAN	L	476	ENSP00000299314:R476L	ENSP00000299314:R476L	R	-	2	0	GNPTAB	100684185	1.000000	0.71417	0.878000	0.34440	0.254000	0.26022	6.755000	0.74914	2.715000	0.92844	0.655000	0.94253	CGC	GNPTAB	-	NULL		0.483	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	C			102160054	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC121	79635	genome.wustl.edu	37	2	27852242	27852242	+	5'Flank	SNP	G	G	T	rs372682827		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr2:27852242G>T	ENST00000324364.3	-	0	0				ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_Splice_Site_p.G3V|GPN1_ENST00000458167.2_Intron|CCDC121_ENST00000394775.3_5'Flank|GPN1_ENST00000515877.1_Intron|GPN1_ENST00000264718.3_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000610189.1_Intron|GPN1_ENST00000424214.1_Intron|GPN1_ENST00000461249.1_3'UTR	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121											breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GCACCTTCAGGGCATACTCGG	0.483																																																	0													160.0	132.0	140.0					2																	27852242		692	1591	2283	SO:0001631	upstream_gene_variant	11321			AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427		2.37:g.27852242G>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom	p.G3V	ENST00000324364.3	37	c.8	CCDS1759.1	2	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786983	0.31593	.	.	ENSG00000198522	ENST00000407583	T	0.46063	0.88	4.14	0.405	0.16361	.	.	.	.	.	T	0.20414	0.0491	N	0.08118	0	0.19300	N	0.999974	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	9	0.72032	D	0.01	.	4.7398	0.13007	0.0:0.1051:0.3958:0.4991	.	3	B5MBZ5	.	V	3	ENSP00000384255:G3V	ENSP00000384255:G3V	G	+	2	0	GPN1	27705746	0.012000	0.17670	0.002000	0.10522	0.025000	0.11179	0.235000	0.17948	0.069000	0.16605	-0.364000	0.07487	GGG	GPN1	-	NULL		0.483	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000250215.1	G	NM_024584		27852242	+1	no_errors	ENST00000407583	ensembl	human	putative	70_37	missense	SNP	0.003	T
GRAMD3	65983	genome.wustl.edu	37	5	125820204	125820205	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:125820204_125820205insT	ENST00000285689.3	+	10	1419_1420	c.958_959insT	c.(958-960)ctcfs	p.L320fs	GRAMD3_ENST00000511134.1_Frame_Shift_Ins_p.L304fs|GRAMD3_ENST00000542322.1_Frame_Shift_Ins_p.L328fs|GRAMD3_ENST00000515200.1_Frame_Shift_Ins_p.L298fs|GRAMD3_ENST00000513040.1_Frame_Shift_Ins_p.L335fs|GRAMD3_ENST00000502348.1_Frame_Shift_Ins_p.L211fs|GRAMD3_ENST00000543198.1_Frame_Shift_Ins_p.L298fs|GRAMD3_ENST00000544396.1_Frame_Shift_Ins_p.L216fs|RP11-517I3.1_ENST00000512500.1_RNA|RP11-517I3.1_ENST00000515808.1_RNA	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	320						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AGCCAAGAGTCTCCCTGTACAG	0.455																																																	0																																										SO:0001589	frameshift_variant	65983			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.959dupT	5.37:g.125820205_125820205dupT	ENSP00000285689:p.Leu320fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Frame_Shift_Ins	INS	pfam_GRAM,smart_GRAM	p.V330fs	ENST00000285689.3	37	c.982_983	CCDS4136.1	5																																																																																			GRAMD3	-	NULL		0.455	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD3	HGNC	protein_coding	OTTHUMT00000250922.2	-	NM_023927		125820205	+1	no_errors	ENST00000542322	ensembl	human	known	70_37	frame_shift_ins	INS	0.007:0.006	T
GVINP1	387751	genome.wustl.edu	37	11	6740075	6740075	+	RNA	SNP	G	G	T	rs570118019	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:6740075G>T	ENST00000526769.3	-	0	3129					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										ACCAGAGAGAGAATTCAATCT	0.418													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21245	0.001		0.0	False		,,,				2504	0.0																0																																												387751			BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6740075G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFL2|Q9H8N5	RNA	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			GVINP1	-	-		0.418	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	G	NR_003945		6740075	-1	no_errors	ENST00000526769	ensembl	human	known	70_37	rna	SNP	0.992	T
HAVCR2	84868	genome.wustl.edu	37	5	156522377	156522377	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:156522377C>T	ENST00000307851.4	-	5	1346	c.616G>A	c.(616-618)Gga>Aga	p.G206R	HAVCR2_ENST00000522593.1_Missense_Mutation_p.G178R	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	206						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCCTGCTCCGATGTAGATG	0.453																																																	0													106.0	106.0	106.0					5																	156522377		2203	4300	6503	SO:0001583	missense	84868			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.616G>A	5.37:g.156522377C>T	ENSP00000312002:p.Gly206Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.G206R	ENST00000307851.4	37	c.616	CCDS4333.1	5	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159958	0.57368	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.42131	0.98;1.52	4.18	3.31	0.37934	.	0.000000	0.46442	D	0.000286	T	0.54062	0.1835	M	0.77103	2.36	0.09310	N	0.999998	D	0.67145	0.996	P	0.55824	0.785	T	0.49072	-0.8977	10	0.87932	D	0	-5.3524	7.869	0.29554	0.0:0.8894:0.0:0.1106	.	206	Q8TDQ0	HAVR2_HUMAN	R	206;178	ENSP00000312002:G206R;ENSP00000430873:G178R	ENSP00000312002:G206R	G	-	1	0	HAVCR2	156454955	0.162000	0.22906	0.226000	0.23910	0.059000	0.15707	1.728000	0.38105	1.346000	0.45694	0.655000	0.94253	GGA	HAVCR2	-	NULL		0.453	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR2	HGNC	protein_coding	OTTHUMT00000252574.2	C			156522377	-1	no_errors	ENST00000307851	ensembl	human	known	70_37	missense	SNP	0.306	T
HIST2H3D	653604	genome.wustl.edu	37	1	149784945	149784945	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:149784945C>T	ENST00000331491.1	-	1	291	c.292G>A	c.(292-294)Gag>Aag	p.E98K	HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	98					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGGTAGGCCTCGCTGGCCTCC	0.642																																																	0													21.0	24.0	23.0					1																	149784945		1559	3540	5099	SO:0001583	missense	653604			AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.292G>A	1.37:g.149784945C>T	ENSP00000333277:p.Glu98Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E98K	ENST00000331491.1	37	c.292	CCDS41388.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989458	0.74589	.	.	ENSG00000183598	ENST00000331491	T	0.77489	-1.1	4.1	3.18	0.36537	.	0.000000	0.53938	U	0.000046	T	0.77452	0.4132	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	T	0.80365	-0.1413	7	0.87932	D	0	.	10.8541	0.46789	0.0:0.9049:0.0:0.0951	.	.	.	.	K	98	ENSP00000333277:E98K	ENSP00000333277:E98K	E	-	1	0	HIST2H3D	148051569	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.337000	0.52120	1.080000	0.41073	0.436000	0.28706	GAG	HIST2H3D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.642	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H3D	HGNC	protein_coding	OTTHUMT00000033452.1	C	NM_001123375		149784945	-1	no_errors	ENST00000331491	ensembl	human	known	70_37	missense	SNP	1.000	T
IL31RA	133396	genome.wustl.edu	37	5	55212739	55212739	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:55212739C>A	ENST00000447346.2	+	15	2151	c.2086C>A	c.(2086-2088)Ccg>Acg	p.P696T	IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.P554T	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	664					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACCTGAGATTCCGCCCAGAAA	0.512																																																	0													53.0	59.0	57.0					5																	55212739		2203	4300	6503	SO:0001583	missense	133396			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.2086C>A	5.37:g.55212739C>A	ENSP00000415900:p.Pro696Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P696T	ENST00000447346.2	37	c.2086	CCDS3970.2	5	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897995	0.33535	.	.	ENSG00000164509	ENST00000447346;ENST00000490985	T;T	0.45668	1.06;0.89	5.12	2.33	0.28932	.	2.512940	0.01216	N	0.007967	T	0.49098	0.1537	M	0.63428	1.95	0.09310	N	1	P	0.47302	0.893	P	0.47981	0.563	T	0.21348	-1.0248	9	.	.	.	-0.0475	4.5927	0.12315	0.0:0.6093:0.1937:0.197	.	696	Q8NI17-2	.	T	696;554	ENSP00000415900:P696T;ENSP00000427533:P554T	.	P	+	1	0	IL31RA	55248496	0.000000	0.05858	0.005000	0.12908	0.087000	0.18053	-0.013000	0.12678	0.832000	0.34804	0.563000	0.77884	CCG	IL31RA	-	NULL		0.512	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1	C	NM_139017		55212739	+1	no_errors	ENST00000447346	ensembl	human	known	70_37	missense	SNP	0.003	A
INPP1	3628	genome.wustl.edu	37	2	191236083	191236083	+	Silent	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr2:191236083G>A	ENST00000322522.4	+	6	1611	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	INPP1_ENST00000541441.1_Silent_p.L385L|INPP1_ENST00000392329.2_Silent_p.L385L	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	385					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			AGACATTCCTGAGCCTCCTGG	0.532																																					Melanoma(130;184 1743 2185 19805 38428)												0													53.0	52.0	52.0					2																	191236083		2203	4300	6503	SO:0001819	synonymous_variant	3628				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.1155G>A	2.37:g.191236083G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Inositol_monophosphatase	p.L385	ENST00000322522.4	37	c.1155	CCDS2305.1	2																																																																																			INPP1	-	NULL		0.532	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	G			191236083	+1	no_errors	ENST00000322522	ensembl	human	known	70_37	silent	SNP	0.992	A
ITGA8	8516	genome.wustl.edu	37	10	15634299	15634299	+	Missense_Mutation	SNP	G	G	T	rs34933317		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr10:15634299G>T	ENST00000378076.3	-	22	2569	c.2216C>A	c.(2215-2217)tCc>tAc	p.S739Y		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	739					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGGCCCAGGGAATACTAAAA	0.378																																																	0													81.0	72.0	75.0					10																	15634299		2203	4300	6503	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2216C>A	10.37:g.15634299G>T	ENSP00000367316:p.Ser739Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S739Y	ENST00000378076.3	37	c.2216	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958035	0.18507	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.48522	0.81	5.43	4.53	0.55603	Integrin alpha-2 (1);	0.261494	0.45867	D	0.000332	T	0.63861	0.2547	M	0.63428	1.95	0.48901	D	0.999724	D;D	0.89917	1.0;1.0	D;D	0.77557	0.989;0.99	T	0.65821	-0.6075	10	0.56958	D	0.05	.	12.2226	0.54443	0.0799:0.0:0.9201:0.0	.	724;739	F5H818;P53708	.;ITA8_HUMAN	Y	739;724	ENSP00000367316:S739Y	ENSP00000367316:S739Y	S	-	2	0	ITGA8	15674305	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.535000	0.53575	1.417000	0.47077	0.655000	0.94253	TCC	ITGA8	-	pfam_Integrin_alpha-2		0.378	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	G	NM_003638		15634299	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	missense	SNP	1.000	T
KBTBD12	166348	genome.wustl.edu	37	3	127649050	127649050	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:127649050G>T	ENST00000405109.1	+	4	1883	c.1416G>T	c.(1414-1416)tgG>tgT	p.W472C	KBTBD12_ENST00000405256.1_Missense_Mutation_p.W472C|KBTBD12_ENST00000343941.4_Missense_Mutation_p.W47C|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.W79C			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	472										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAGATCAATGGAGTGTGCGGG	0.418																																																	0													89.0	74.0	79.0					3																	127649050		2203	4300	6503	SO:0001583	missense	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1416G>T	3.37:g.127649050G>T	ENSP00000385957:p.Trp472Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.W472C	ENST00000405109.1	37	c.1416	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187096	0.78789	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	D;D;D;T	0.96940	-4.18;-4.18;-4.18;-1.26	5.91	5.91	0.95273	Kelch-type beta propeller (1);	0.000000	0.53938	D	0.000044	D	0.98988	0.9655	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99060	1.0830	10	0.87932	D	0	.	20.2892	0.98540	0.0:0.0:1.0:0.0	.	472;47	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	C	472;79;472;47	ENSP00000385957:W472C;ENSP00000385830:W79C;ENSP00000385879:W472C;ENSP00000345478:W47C	ENSP00000345478:W47C	W	+	3	0	KBTBD12	129131740	1.000000	0.71417	0.899000	0.35326	0.797000	0.45037	9.476000	0.97823	2.801000	0.96364	0.573000	0.79308	TGG	KBTBD12	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.418	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	G	NM_207335		127649050	+1	no_errors	ENST00000405109	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM4A	9682	genome.wustl.edu	37	1	44169066	44169066	+	Intron	DEL	T	T	-	rs570960378	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:44169066delT	ENST00000372396.3	+	20	2975				KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000418149.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A						cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TATAGCTGGATTTTTTTTTTT	0.433													|||unknown(LONG_INSERTION)	1432	0.285942	0.2776	0.3112	5008	,	,		18094	0.2817		0.2863	False		,,,				2504	0.2832																0																																										SO:0001627	intron_variant	100132774			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2842-222T>-	1.37:g.44169066delT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVB1	RNA	DEL	-	NULL	ENST00000372396.3	37	NULL	CCDS491.1	1																																																																																			KDM4A-AS1	-	-		0.433	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A-AS1	HGNC	protein_coding	OTTHUMT00000019960.1	T	NM_014663		44169066	-1	no_errors	ENST00000453015	ensembl	human	known	70_37	rna	DEL	0.000	-
KRT16P3	644945	genome.wustl.edu	37	17	20405802	20405802	+	RNA	SNP	T	T	C			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr17:20405802T>C	ENST00000580113.1	-	0	1012									keratin 16 pseudogene 3																		TCTGGTCCCATCCTGAGAAAA	0.498																																																	0																																												644945			BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20405802T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000580113.1	37	NULL		17																																																																																			KRT16P3	-	-		0.498	KRT16P3-004	KNOWN	basic	processed_transcript	KRT16P3	HGNC	pseudogene	OTTHUMT00000443764.1	T	NR_029393		20405802	-1	no_errors	ENST00000580621	ensembl	human	known	70_37	rna	SNP	0.000	C
LILRA1	11024	genome.wustl.edu	37	19	55107748	55107748	+	Silent	SNP	G	G	A	rs139190966	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:55107748G>A	ENST00000251372.3	+	7	1235	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	351	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CATGGGGGCCGTTCCACACTT	0.582																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	106.0	102.0	103.0		1053	-1.2	0.0	19	dbSNP_134	103	6,8594	5.7+/-21.5	0,6,4294	no	coding-synonymous	LILRA1	NM_006863.1		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		351/490	55107748	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1053G>A	19.37:g.55107748G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75018|Q3MJA6	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.P351	ENST00000251372.3	37	c.1053	CCDS12901.1	19																																																																																			LILRA1	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	G	NM_006863		55107748	+1	no_errors	ENST00000251372	ensembl	human	known	70_37	silent	SNP	0.000	A
LOC344967	344967	genome.wustl.edu	37	4	40045080	40045080	+	RNA	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:40045080G>A	ENST00000381811.2	-	0	1069					NR_027277.1																						AGGCTGTGACGAGGTTGGTCT	0.542																																																	0																																												344967																															4.37:g.40045080G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000381811.2	37	NULL		4																																																																																			RP11-333E13.4	-	-		0.542	RP11-333E13.4-002	KNOWN	basic	processed_transcript	LOC344967	Clone_based_vega_gene	pseudogene	OTTHUMT00000361278.1	G			40045080	-1	no_errors	ENST00000381811	ensembl	human	known	70_37	rna	SNP	0.991	A
LSM4	25804	genome.wustl.edu	37	19	18423461	18423461	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:18423461C>T	ENST00000593829.1	-	3	350	c.97G>A	c.(97-99)Gac>Aac	p.D33N	LSM4_ENST00000252816.6_Missense_Mutation_p.D19N	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	33					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(3)	6						ATCCAGTTGTCGCAGCTCACC	0.587																																																	0													307.0	253.0	271.0					19																	18423461		2203	4300	6503	SO:0001583	missense	25804			AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.97G>A	19.37:g.18423461C>T	ENSP00000469468:p.Asp33Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.D33N	ENST00000593829.1	37	c.97	CCDS12374.1	19	.	.	.	.	.	.	.	.	.	.	c	31	5.104389	0.94245	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.74	4.74	0.60224	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.90473	0.7016	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94319	0.7552	9	0.87932	D	0	-0.1864	17.0837	0.86605	0.0:1.0:0.0:0.0	.	33	Q9Y4Z0	LSM4_HUMAN	N	33	.	ENSP00000252816:D33N	D	-	1	0	LSM4	18284461	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	6.897000	0.75671	2.366000	0.80165	0.306000	0.20318	GAC	LSM4	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc		0.587	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM4	HGNC	protein_coding	OTTHUMT00000466321.1	C			18423461	-1	no_errors	ENST00000593829	ensembl	human	known	70_37	missense	SNP	1.000	T
LTBP4	8425	genome.wustl.edu	37	19	41117815	41117815	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:41117815G>C	ENST00000308370.7	+	17	2305	c.2305G>C	c.(2305-2307)Gag>Cag	p.E769Q	LTBP4_ENST00000396819.3_Missense_Mutation_p.E702Q|LTBP4_ENST00000243562.9_5'Flank|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.E222Q|LTBP4_ENST00000204005.9_Missense_Mutation_p.E732Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	769	Cys-rich.|EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGCCGGTGTGAGAACACAGA	0.642																																																	0													33.0	40.0	38.0					19																	41117815		2068	4206	6274	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2305G>C	19.37:g.41117815G>C	ENSP00000311905:p.Glu769Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E769Q	ENST00000308370.7	37	c.2305		19	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871237	0.72065	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	4.74	4.74	0.60224	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38605	N	0.001634	D	0.83995	0.5375	N	0.10664	0.02	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.991	D;D;D	0.79108	0.992;0.988;0.988	T	0.80216	-0.1474	10	0.13853	T	0.58	.	12.7064	0.57063	0.0:0.1666:0.8334:0.0	.	702;769;732	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	732;222;769;702	ENSP00000204005:E732Q;ENSP00000441054:E222Q;ENSP00000311905:E769Q;ENSP00000380031:E702Q	ENSP00000204005:E732Q	E	+	1	0	LTBP4	45809655	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.519000	0.53458	2.338000	0.79540	0.561000	0.74099	GAG	LTBP4	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.642	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41117815	+1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	1.000	C
MAB21L2	10586	genome.wustl.edu	37	4	151504436	151504436	+	Silent	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:151504436C>T	ENST00000317605.4	+	1	1360	c.255C>T	c.(253-255)gtC>gtT	p.V85V	RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	85					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AGATGGGCGTCTTCAACTTCG	0.597																																																	0													83.0	75.0	78.0					4																	151504436		2203	4300	6503	SO:0001819	synonymous_variant	10586			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.255C>T	4.37:g.151504436C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP37|Q9HBA7	Silent	SNP	pfam_Mab-21_dom,pfscan_Ricin_B_lectin	p.V85	ENST00000317605.4	37	c.255	CCDS3774.1	4																																																																																			MAB21L2	-	pfam_Mab-21_dom		0.597	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	HGNC	protein_coding	OTTHUMT00000364937.1	C	NM_006439		151504436	+1	no_errors	ENST00000317605	ensembl	human	known	70_37	silent	SNP	1.000	T
MAP1B	4131	genome.wustl.edu	37	5	71495568	71495568	+	Missense_Mutation	SNP	C	C	T	rs139907989		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:71495568C>T	ENST00000296755.7	+	5	6684	c.6386C>T	c.(6385-6387)gCc>gTc	p.A2129V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2129					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGGGGGAGCCCCACCGCCT	0.547																																					Melanoma(17;367 822 11631 31730 47712)												0								C	VAL/ALA	0,4406		0,0,2203	69.0	73.0	72.0		6386	3.8	1.0	5	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAP1B	NM_005909.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2129/2469	71495568	1,13005	2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6386C>T	5.37:g.71495568C>T	ENSP00000296755:p.Ala2129Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.A2129V	ENST00000296755.7	37	c.6386	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406431	0.25378	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03553	3.89	5.66	3.79	0.43588	.	0.105878	0.41396	D	0.000892	T	0.03871	0.0109	L	0.36672	1.1	0.33821	D	0.629009	D;B	0.55385	0.971;0.009	B;B	0.42462	0.388;0.011	T	0.50625	-0.8806	10	0.18276	T	0.48	-22.7506	12.4797	0.55836	0.0:0.7193:0.2055:0.0751	.	2003;2129	A2BDK6;P46821	.;MAP1B_HUMAN	V	2129	ENSP00000296755:A2129V	ENSP00000296755:A2129V	A	+	2	0	MAP1B	71531324	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	1.407000	0.34657	1.421000	0.47157	0.655000	0.94253	GCC	MAP1B	-	NULL		0.547	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71495568	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	0.952	T
MAP3K14-AS1	100133991	genome.wustl.edu	37	17	43348487	43348487	+	RNA	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr17:43348487G>A	ENST00000586450.1	+	0	1886				MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA					MAP3K14 antisense RNA 1																		AGCATGTGCAGCATCATACAG	0.637											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37.0	42.0	40.0					17																	43348487		2158	4261	6419			9020			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43348487G>A		Somatic	915	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000586450.1	37	NULL		17																																																																																			MAP3K14	-	-		0.637	MAP3K14-AS1-010	KNOWN	basic	antisense	MAP3K14	HGNC	antisense	OTTHUMT00000450942.1	G	NR_024434		43348487	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	1.000	A
MAP3K6	9064	genome.wustl.edu	37	1	27683547	27683547	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:27683547G>A	ENST00000493901.1	-	25	3556	c.3317C>T	c.(3316-3318)tCa>tTa	p.S1106L	MAP3K6_ENST00000374040.3_Missense_Mutation_p.S1098L|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S1106L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1106					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGAGCAGTGAGTCCAGAAC	0.657																																																	0													52.0	50.0	50.0					1																	27683547		2202	4300	6502	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3317C>T	1.37:g.27683547G>A	ENSP00000419591:p.Ser1106Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	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.S1106L	ENST00000493901.1	37	c.3317	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852337	0.71719	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.66995	-0.24;-0.24;-0.24	5.2	3.23	0.37069	.	.	.	.	.	T	0.64238	0.2580	L	0.53249	1.67	0.33701	D	0.614547	P;P	0.45827	0.867;0.791	P;B	0.47346	0.544;0.342	T	0.73987	-0.3809	9	0.87932	D	0	.	6.9933	0.24767	0.0:0.1542:0.4781:0.3678	.	1098;1106	O95382-3;O95382	.;M3K6_HUMAN	L	1098;1106;1106	ENSP00000363152:S1098L;ENSP00000419591:S1106L;ENSP00000350195:S1106L	ENSP00000350195:S1106L	S	-	2	0	MAP3K6	27556134	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.939000	0.48995	2.421000	0.82119	0.462000	0.41574	TCA	MAP3K6	-	NULL		0.657	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	G	NM_004672		27683547	-1	no_errors	ENST00000357582	ensembl	human	known	70_37	missense	SNP	1.000	A
MMS22L	253714	genome.wustl.edu	37	6	97609947	97609947	+	Missense_Mutation	SNP	C	C	G	rs373735458		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:97609947C>G	ENST00000275053.4	-	22	3581	c.3316G>C	c.(3316-3318)Gac>Cac	p.D1106H	MMS22L_ENST00000369251.2_Missense_Mutation_p.D1066H	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1106					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCATAAATGTCTGTGTTAGTT	0.413																																																	0													120.0	116.0	118.0					6																	97609947		2203	4300	6503	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3316G>C	6.37:g.97609947C>G	ENSP00000275053:p.Asp1106His	Somatic		WXS	Illumina HiSeq	Phase_IV	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D1106H	ENST00000275053.4	37	c.3316	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660867	0.47572	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.34859	3.48;1.34	5.87	5.87	0.94306	.	0.250118	0.45126	D	0.000397	T	0.44787	0.1310	L	0.53249	1.67	0.43130	D	0.994865	D;P	0.61697	0.99;0.925	P;P	0.55999	0.789;0.639	T	0.33266	-0.9875	10	0.62326	D	0.03	-17.8264	20.2032	0.98269	0.0:1.0:0.0:0.0	.	1066;1106	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	H	1106;1066	ENSP00000275053:D1106H;ENSP00000358254:D1066H	ENSP00000275053:D1106H	D	-	1	0	MMS22L	97716668	0.395000	0.25254	0.034000	0.17996	0.010000	0.07245	2.639000	0.46570	2.785000	0.95823	0.650000	0.86243	GAC	MMS22L	-	superfamily_ARM-type_fold		0.413	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	C	NM_198468		97609947	-1	no_errors	ENST00000275053	ensembl	human	known	70_37	missense	SNP	0.718	G
MMS22L	253714	genome.wustl.edu	37	6	97609972	97609972	+	Silent	SNP	G	G	C			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:97609972G>C	ENST00000275053.4	-	22	3556	c.3291C>G	c.(3289-3291)ctC>ctG	p.L1097L	MMS22L_ENST00000369251.2_Silent_p.L1057L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1097					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGAAGAGTTGGAGGATGAAGG	0.418																																																	0													127.0	121.0	123.0					6																	97609972		2203	4300	6503	SO:0001819	synonymous_variant	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3291C>G	6.37:g.97609972G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	superfamily_ARM-type_fold	p.L1097	ENST00000275053.4	37	c.3291	CCDS5039.1	6																																																																																			MMS22L	-	superfamily_ARM-type_fold		0.418	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	G	NM_198468		97609972	-1	no_errors	ENST00000275053	ensembl	human	known	70_37	silent	SNP	1.000	C
MSX1	4487	genome.wustl.edu	37	4	4864435	4864435	+	Silent	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:4864435G>A	ENST00000382723.4	+	2	711	c.477G>A	c.(475-477)ctG>ctA	p.L159L	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	159					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGGGCGGCTGAGCCCCCCAG	0.572																																																	0													57.0	74.0	68.0					4																	4864435		2178	4239	6417	SO:0001819	synonymous_variant	4487			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.477G>A	4.37:g.4864435G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0SZU5|A8K3M1|Q96NY4	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L159	ENST00000382723.4	37	c.477	CCDS3378.2	4																																																																																			MSX1	-	NULL		0.572	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	G			4864435	+1	no_errors	ENST00000382723	ensembl	human	known	70_37	silent	SNP	1.000	A
MT-ND5	4540	genome.wustl.edu	37	M	13826	13826	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrM:13826G>T	ENST00000361567.2	+	1	1490	c.1490G>T	c.(1489-1491)gGa>gTa	p.G497V	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	497					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CACTTTCCTAGGACTTCTAAC	0.443																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1490G>T	M.37:g.13826G>T	ENSP00000354813:p.Gly497Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.G497V	ENST00000361567.2	37	c.1490		MT																																																																																			MT-ND5	-	pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5		0.443	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		13826	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	T
MYCBP2	23077	genome.wustl.edu	37	13	77651182	77651182	+	Intron	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr13:77651182G>T	ENST00000544440.2	-	67	11628				MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000407578.2_Intron|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000357337.6_Intron					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACATTTATAGCCAGAAATTT	0.303																																																	0																																										SO:0001627	intron_variant	100874212			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11610+100C>A	13.37:g.77651182G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000544440.2	37	NULL		13																																																																																			MYCBP2-AS1	-	-		0.303	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2-AS1	HGNC	protein_coding	OTTHUMT00000045326.1	G	NM_015057		77651182	+1	no_errors	ENST00000596342	ensembl	human	known	70_37	rna	SNP	0.000	T
NCOR2	9612	genome.wustl.edu	37	12	124887058	124887059	+	In_Frame_Ins	INS	-	-	GCT	rs372331070|rs35831183|rs559681337	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr12:124887058_124887059insGCT	ENST00000405201.1	-	14	1531_1532	c.1531_1532insAGC	c.(1531-1533)ccc>cAGCcc	p.510_511insQ	NCOR2_ENST00000397355.1_In_Frame_Ins_p.510_511insQ|NCOR2_ENST00000404621.1_In_Frame_Ins_p.509_510insQ|NCOR2_ENST00000429285.2_In_Frame_Ins_p.509_510insQ|NCOR2_ENST00000404121.2_In_Frame_Ins_p.80_81insQ|NCOR2_ENST00000356219.3_In_Frame_Ins_p.510_511insQ			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	510	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGGGCATGGgctgctgctgc	0.619														1535	0.30651	0.1906	0.3401	5008	,	,		20949	0.2401		0.4006	False		,,,				2504	0.411																0																																										SO:0001652	inframe_insertion	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1529_1531dupAGC	12.37:g.124887065_124887067dupGCT	ENSP00000384018:p.Gln510_Gln510dup	Somatic		WXS	Illumina HiSeq	Phase_IV	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.511in_frame_insQ	ENST00000405201.1	37	c.1532_1531	CCDS41858.2	12																																																																																			NCOR2	-	NULL		0.619	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	NM_006312		124887059	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	in_frame_ins	INS	0.999:1.000	GCT
NGLY1	55768	genome.wustl.edu	37	3	25775374	25775374	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:25775374G>T	ENST00000280700.5	-	8	1409	c.1249C>A	c.(1249-1251)Ctt>Att	p.L417I	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.L399I|NGLY1_ENST00000396649.3_Missense_Mutation_p.L417I|NGLY1_ENST00000417874.2_Missense_Mutation_p.L375I	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	417					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGCTTATTAAGCCCATTAATA	0.358																																																	0													153.0	143.0	146.0					3																	25775374		2203	4300	6503	SO:0001583	missense	55768			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1249C>A	3.37:g.25775374G>T	ENSP00000280700:p.Leu417Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom	p.L417I	ENST00000280700.5	37	c.1249	CCDS33719.1	3	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698672	0.48307	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.77	3.93	0.45458	.	0.113047	0.64402	N	0.000010	T	0.44603	0.1301	N	0.25890	0.77	0.80722	D	1	B;B;B;B	0.25351	0.006;0.057;0.124;0.027	B;B;B;B	0.42214	0.057;0.196;0.38;0.072	T	0.20505	-1.0273	10	0.15952	T	0.53	-10.7891	15.261	0.73621	0.0:0.0:0.6406:0.3594	.	375;399;417;417	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	I	399;417;417;396;375	ENSP00000387430:L399I;ENSP00000280700:L417I;ENSP00000379886:L417I;ENSP00000307980:L396I;ENSP00000389888:L375I	ENSP00000280700:L417I	L	-	1	0	NGLY1	25750378	0.998000	0.40836	0.990000	0.47175	0.990000	0.78478	2.604000	0.46274	0.844000	0.35094	0.655000	0.94253	CTT	NGLY1	-	pfam_Rad4/PNGase_transGLS-fold		0.358	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGLY1	HGNC	protein_coding	OTTHUMT00000340832.2	G			25775374	-1	no_errors	ENST00000280700	ensembl	human	known	70_37	missense	SNP	0.945	T
NOB1	28987	genome.wustl.edu	37	16	69786243	69786243	+	Silent	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:69786243G>A	ENST00000268802.5	-	3	257	c.228C>T	c.(226-228)taC>taT	p.Y76Y		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	76	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGAGGCTGGGGTAGTCTCCTG	0.443																																																	0													118.0	110.0	113.0					16																	69786243		2198	4300	6498	SO:0001819	synonymous_variant	28987			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.228C>T	16.37:g.69786243G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	pfam_NOB1_Zn-bd,smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease	p.Y76	ENST00000268802.5	37	c.228	CCDS10884.1	16																																																																																			NOB1	-	smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease		0.443	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	HGNC	protein_coding	OTTHUMT00000268958.2	G	NM_014062		69786243	-1	no_errors	ENST00000268802	ensembl	human	known	70_37	silent	SNP	0.930	A
NPC1	4864	genome.wustl.edu	37	18	21125040	21125040	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr18:21125040C>T	ENST00000269228.5	-	12	2385	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	NPC1_ENST00000412552.2_Missense_Mutation_p.D293N|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	611					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTTAGTTCATCTTCAATACTT	0.348																																																	0													110.0	100.0	104.0					18																	21125040		2203	4300	6503	SO:0001583	missense	4864			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1831G>A	18.37:g.21125040C>T	ENSP00000269228:p.Asp611Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.D611N	ENST00000269228.5	37	c.1831	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	36	5.753095	0.96890	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.92699	-3.09;-3.09	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.979;0.995	D	0.97262	0.9905	10	0.87932	D	0	-25.1473	20.3928	0.98949	0.0:1.0:0.0:0.0	.	622;611	Q59GR1;O15118	.;NPC1_HUMAN	N	611;293;456	ENSP00000269228:D611N;ENSP00000408606:D293N	ENSP00000269228:D611N	D	-	1	0	NPC1	19379038	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.614000	0.82996	2.813000	0.96785	0.655000	0.94253	GAT	NPC1	-	pfam_Patched,tigrfam_NP_C_type		0.348	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	C	NM_000271		21125040	-1	no_errors	ENST00000269228	ensembl	human	known	70_37	missense	SNP	1.000	T
OTOG	340990	genome.wustl.edu	37	11	17632365	17632365	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:17632365C>A	ENST00000399391.2	+	35	5554	c.5554C>A	c.(5554-5556)Ctg>Atg	p.L1852M	OTOG_ENST00000399397.1_Missense_Mutation_p.L1779M|OTOG_ENST00000342528.2_Missense_Mutation_p.L858M	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	1852	Pro-rich.				adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						GGCCACGACTCTGCCTGCTCA	0.642																																																	0																																										SO:0001583	missense	340990			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.5554C>A	11.37:g.17632365C>A	ENSP00000382323:p.Leu1852Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.L1852M	ENST00000399391.2	37	c.5554	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155247	0.38021	.	.	ENSG00000188162	ENST00000399391;ENST00000399397;ENST00000342528	T;T;T	0.17854	2.25;2.36;2.65	5.92	3.98	0.46160	.	1.311010	0.05011	N	0.471035	T	0.24851	0.0603	L	0.60455	1.87	0.09310	N	1	P	0.40875	0.731	B	0.44224	0.444	T	0.16719	-1.0393	10	0.37606	T	0.19	.	7.7266	0.28763	0.0:0.7472:0.1635:0.0892	.	858	Q6ZRI0-2	.	M	1852;1779;858	ENSP00000382323:L1852M;ENSP00000382329:L1779M;ENSP00000341666:L858M	ENSP00000341666:L858M	L	+	1	2	OTOG	17588941	0.000000	0.05858	0.023000	0.16930	0.020000	0.10135	-0.070000	0.11523	1.492000	0.48499	0.655000	0.94253	CTG	OTOG	-	NULL		0.642	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		C			17632365	+1	no_errors	ENST00000399391	ensembl	human	known	70_37	missense	SNP	0.011	A
PCIF1	63935	genome.wustl.edu	37	20	44569823	44569823	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr20:44569823G>A	ENST00000372409.3	+	7	1014	c.650G>A	c.(649-651)cGg>cAg	p.R217Q		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	217					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.R217L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CAGCACTATCGGGAGCTGTGC	0.612																																																	1	Substitution - Missense(1)	lung(1)											42.0	41.0	41.0					20																	44569823		2203	4300	6503	SO:0001583	missense	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.650G>A	20.37:g.44569823G>A	ENSP00000361486:p.Arg217Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R217Q	ENST00000372409.3	37	c.650	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986052	0.35036	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.056772	0.64402	D	0.000001	T	0.48995	0.1531	L	0.28694	0.88	0.51767	D	0.99993	B	0.19935	0.04	B	0.09377	0.004	T	0.43180	-0.9407	9	0.10902	T	0.67	-22.6522	17.4916	0.87705	0.0:0.0:1.0:0.0	.	217	Q9H4Z3	PCIF1_HUMAN	Q	217	.	ENSP00000361486:R217Q	R	+	2	0	PCIF1	44003230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.647000	0.67923	2.606000	0.88127	0.655000	0.94253	CGG	PCIF1	-	NULL		0.612	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	G	NM_022104		44569823	+1	no_errors	ENST00000372409	ensembl	human	known	70_37	missense	SNP	1.000	A
PHYHIPL	84457	genome.wustl.edu	37	10	61004878	61004878	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr10:61004878C>A	ENST00000373880.4	+	5	922	c.658C>A	c.(658-660)Cct>Act	p.P220T	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.P194T	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	220						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CCATGGCTCTCCTATCAGTGG	0.438																																																	0													73.0	68.0	70.0					10																	61004878		2203	4300	6503	SO:0001583	missense	84457			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.658C>A	10.37:g.61004878C>A	ENSP00000362987:p.Pro220Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P220T	ENST00000373880.4	37	c.658	CCDS7254.1	10	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795561	0.50208	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.31510	1.89;1.49	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.58836	0.2150	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51387	-0.8712	10	0.27785	T	0.31	-4.2729	20.1162	0.97934	0.0:1.0:0.0:0.0	.	194;220	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	T	220;194	ENSP00000362987:P220T;ENSP00000362985:P194T	ENSP00000362985:P194T	P	+	1	0	PHYHIPL	60674884	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.756000	0.94617	0.655000	0.94253	CCT	PHYHIPL	-	NULL		0.438	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYHIPL	HGNC	protein_coding	OTTHUMT00000048156.1	C	NM_032439		61004878	+1	no_errors	ENST00000373880	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCB1	23236	genome.wustl.edu	37	20	8628578	8628578	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr20:8628578G>A	ENST00000338037.6	+	6	523	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E166K|PLCB1_ENST00000378641.3_Missense_Mutation_p.E166K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	166					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGTCACTCCAGAAGGGCGTAT	0.333																																																	0													92.0	89.0	90.0					20																	8628578		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.496G>A	20.37:g.8628578G>A	ENSP00000338185:p.Glu166Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E166K	ENST00000338037.6	37	c.496	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.207994	0.95033	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.41236	1.265	0.58432	D	0.999996	P;P;D;D	0.71674	0.81;0.883;0.996;0.998	B;B;P;D	0.78314	0.41;0.225;0.883;0.991	T	0.49862	-0.8894	10	0.36615	T	0.2	.	19.8517	0.96743	0.0:0.0:1.0:0.0	.	65;166;166;165	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	K	166;166;166;165;86;86	ENSP00000367908:E166K;ENSP00000338185:E166K;ENSP00000367904:E166K;ENSP00000384001:E165K	ENSP00000338185:E166K	E	+	1	0	PLCB1	8576578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.573000	0.90759	2.793000	0.96121	0.561000	0.74099	GAA	PLCB1	-	pirsf_PLC-beta		0.333	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8628578	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	A
PRDM9	56979	genome.wustl.edu	37	5	23522499	23522499	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:23522499G>A	ENST00000296682.3	+	7	777	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	199					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGAGCCGCAGGATGATGATTA	0.453										HNSCC(3;0.000094)																																							0													128.0	139.0	135.0					5																	23522499		2017	4200	6217	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.595G>A	5.37:g.23522499G>A	ENSP00000296682:p.Asp199Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D199N	ENST00000296682.3	37	c.595	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339218	0.60963	.	.	ENSG00000164256	ENST00000296682	T	0.54071	0.59	3.72	2.84	0.33178	SSXRD motif (1);	.	.	.	.	T	0.57051	0.2027	L	0.29908	0.895	0.31377	N	0.679481	D	0.69078	0.997	D	0.80764	0.994	T	0.59134	-0.7511	9	0.87932	D	0	-9.8512	7.8602	0.29506	0.1263:0.0:0.8737:0.0	.	199	Q9NQV7	PRDM9_HUMAN	N	199	ENSP00000296682:D199N	ENSP00000296682:D199N	D	+	1	0	PRDM9	23558256	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	2.077000	0.41557	0.859000	0.35456	-0.206000	0.12725	GAT	PRDM9	-	pfam_SSXRD_motif		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23522499	+1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	1.000	A
PRMT8	56341	genome.wustl.edu	37	12	3677981	3677981	+	Silent	SNP	C	C	G			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr12:3677981C>G	ENST00000382622.3	+	5	981	c.591C>G	c.(589-591)ctC>ctG	p.L197L	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.L188L	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	197	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AGTCCATGCTCAACACGGTGA	0.557																																																	0													302.0	222.0	249.0					12																	3677981		2203	4300	6503	SO:0001819	synonymous_variant	56341			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.591C>G	12.37:g.3677981C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDP0|Q8TBJ8	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.L197	ENST00000382622.3	37	c.591	CCDS8521.2	12																																																																																			PRMT8	-	pfam_Arg_MeTrfase,pfam_Methyltransf_11		0.557	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	C	NM_019854		3677981	+1	no_errors	ENST00000382622	ensembl	human	known	70_37	silent	SNP	1.000	G
PRSS58	136541	genome.wustl.edu	37	7	141952174	141952174	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr7:141952174G>A	ENST00000552471.1	-	5	912	c.593C>T	c.(592-594)cCg>cTg	p.P198L	PRSS58_ENST00000547058.2_Missense_Mutation_p.P198L			Q8IYP2	PRS58_HUMAN	protease, serine, 58	198	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCAGATTGCCGGGGCAGCAGA	0.393																																																	0													49.0	51.0	51.0					7																	141952174		2203	4300	6503	SO:0001583	missense	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.593C>T	7.37:g.141952174G>A	ENSP00000446916:p.Pro198Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.P198L	ENST00000552471.1	37	c.593	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521634	0.44866	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.94457	-3.43;-3.43	5.24	4.32	0.51571	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97936	0.9321	H	0.98276	4.19	0.48762	D	0.999702	D	0.89917	1.0	D	0.64687	0.928	D	0.97625	1.0138	9	0.87932	D	0	.	8.753	0.34629	0.109:0.0:0.891:0.0	.	198	Q8IYP2	PRS58_HUMAN	L	198	ENSP00000447588:P198L;ENSP00000446916:P198L	ENSP00000307206:P198L	P	-	2	0	PRSS58	141598652	1.000000	0.71417	0.936000	0.37596	0.117000	0.20001	4.126000	0.57937	1.347000	0.45714	-0.345000	0.07892	CCG	PRSS58	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6		0.393	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	G	NM_001001317		141952174	-1	no_errors	ENST00000547058	ensembl	human	known	70_37	missense	SNP	0.988	A
PSMB3	5691	genome.wustl.edu	37	17	36916830	36916830	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr17:36916830G>T	ENST00000225426.4	+	4	534	c.443G>T	c.(442-444)gGa>gTa	p.G148V		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	148					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						CAAATGTACGGAATGTGTGAG	0.532																																																	0													78.0	65.0	69.0					17																	36916830		2203	4300	6503	SO:0001583	missense	5691			BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.443G>T	17.37:g.36916830G>T	ENSP00000225426:p.Gly148Val	Somatic		WXS	Illumina HiSeq	Phase_IV	P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.G148V	ENST00000225426.4	37	c.443	CCDS11328.1	17	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558898	0.86231	.	.	ENSG00000108294	ENST00000225426	T	0.50548	0.74	3.87	3.87	0.44632	.	0.054865	0.64402	D	0.000001	T	0.75525	0.3861	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83414	0.0029	10	0.87932	D	0	.	14.8909	0.70609	0.0:0.0:1.0:0.0	.	148	P49720	PSB3_HUMAN	V	148	ENSP00000225426:G148V	ENSP00000225426:G148V	G	+	2	0	PSMB3	34170356	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.561000	0.98142	2.173000	0.68751	0.431000	0.28591	GGA	PSMB3	-	pfam_Proteasome_sua/b		0.532	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB3	HGNC	protein_coding	OTTHUMT00000256810.2	G	NM_002795		36916830	+1	no_errors	ENST00000225426	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRZ1	5803	genome.wustl.edu	37	7	121652525	121652525	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr7:121652525C>A	ENST00000393386.2	+	12	3836	c.3425C>A	c.(3424-3426)cCt>cAt	p.P1142H	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1142					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCGCTTAAACCTGTGCTTAGT	0.408																																																	0													174.0	165.0	168.0					7																	121652525		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3425C>A	7.37:g.121652525C>A	ENSP00000377047:p.Pro1142His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P1142H	ENST00000393386.2	37	c.3425	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922265	0.33908	.	.	ENSG00000106278	ENST00000393386	T	0.44881	0.91	5.21	2.31	0.28768	.	0.477337	0.21375	N	0.075574	T	0.44603	0.1301	M	0.67953	2.075	0.80722	D	1	D	0.55172	0.97	P	0.49708	0.62	T	0.37126	-0.9719	10	0.87932	D	0	.	4.8088	0.13333	0.147:0.6075:0.0:0.2454	.	1142	P23471	PTPRZ_HUMAN	H	1142	ENSP00000377047:P1142H	ENSP00000377047:P1142H	P	+	2	0	PTPRZ1	121439761	0.047000	0.20315	0.976000	0.42696	0.761000	0.43186	0.779000	0.26746	0.246000	0.21394	0.555000	0.69702	CCT	PTPRZ1	-	NULL		0.408	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	C	NM_002851		121652525	+1	no_errors	ENST00000393386	ensembl	human	known	70_37	missense	SNP	0.999	A
RAD51AP2	729475	genome.wustl.edu	37	2	17696788	17696788	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr2:17696788C>G	ENST00000399080.2	-	1	2918	c.2895G>C	c.(2893-2895)aaG>aaC	p.K965N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	965										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAAATTTTCTCTTCATCTCAA	0.338																																																	0													42.0	40.0	41.0					2																	17696788		1796	4068	5864	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2895G>C	2.37:g.17696788C>G	ENSP00000382030:p.Lys965Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.K965N	ENST00000399080.2	37	c.2895	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219145	0.39201	.	.	ENSG00000214842	ENST00000399080	T	0.40756	1.02	5.17	2.43	0.29744	.	.	.	.	.	T	0.46678	0.1405	L	0.29908	0.895	0.27358	N	0.956044	D	0.64830	0.994	D	0.63192	0.912	T	0.33471	-0.9867	9	0.87932	D	0	-3.1938	8.8019	0.34914	0.0:0.6246:0.0:0.3754	.	965	Q09MP3	R51A2_HUMAN	N	965	ENSP00000382030:K965N	ENSP00000382030:K965N	K	-	3	2	RAD51AP2	17560269	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	0.155000	0.16362	0.303000	0.22785	-0.137000	0.14449	AAG	RAD51AP2	-	NULL		0.338	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3	C	NM_001099218		17696788	-1	no_errors	ENST00000399080	ensembl	human	known	70_37	missense	SNP	0.999	G
RFPL4B	442247	genome.wustl.edu	37	6	112671103	112671103	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:112671103C>A	ENST00000441065.2	+	3	505	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	65							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGAAGAATGGCAAGTGAGCGT	0.493																																																	0													129.0	108.0	115.0					6																	112671103		2203	4300	6503	SO:0001583	missense	442247			AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.193C>A	6.37:g.112671103C>A	ENSP00000423391:p.Gln65Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU91	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.Q65K	ENST00000441065.2	37	c.193	CCDS34515.1	6	.	.	.	.	.	.	.	.	.	.	C	8.915	0.959704	0.18507	.	.	ENSG00000251258	ENST00000441065	T	0.70164	-0.46	3.8	-0.45	0.12223	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.25606	0.0623	L	0.39245	1.2	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.34304	-0.9834	9	0.06494	T	0.89	.	8.7372	0.34537	0.151:0.3161:0.5328:0.0	.	65	Q6ZWI9	RFPLB_HUMAN	K	65	ENSP00000423391:Q65K	ENSP00000423391:Q65K	Q	+	1	0	RFPL4B	112777796	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.187000	0.09656	-0.097000	0.12307	-0.165000	0.13383	CAA	RFPL4B	-	NULL		0.493	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL4B	HGNC	protein_coding	OTTHUMT00000041885.2	C	NM_001013734		112671103	+1	no_errors	ENST00000441065	ensembl	human	known	70_37	missense	SNP	0.000	A
RPGRIP1L	23322	genome.wustl.edu	37	16	53670409	53670409	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:53670409G>A	ENST00000379925.3	-	22	3286	c.3236C>T	c.(3235-3237)tCa>tTa	p.S1079L	RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.S1045L|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.S1045L|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.S1079L	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1079					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTCAGAAGCTGACATGTCCTC	0.348																																																	0													110.0	101.0	104.0					16																	53670409		2198	4300	6498	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3236C>T	16.37:g.53670409G>A	ENSP00000369257:p.Ser1079Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S1079L	ENST00000379925.3	37	c.3236	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665925	0.47677	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.77750	-0.83;-1.12	5.42	4.45	0.53987	.	0.679378	0.13619	N	0.374545	T	0.61388	0.2343	N	0.08118	0	0.80722	D	1	B;B;B;B	0.12630	0.006;0.006;0.001;0.004	B;B;B;B	0.09377	0.003;0.003;0.003;0.004	T	0.59188	-0.7501	10	0.62326	D	0.03	-5.725	13.3849	0.60791	0.0768:0.0:0.9232:0.0	.	1079;1079;1079;1045	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	L	1079;1045	ENSP00000369257:S1079L;ENSP00000262135:S1045L	ENSP00000262135:S1045L	S	-	2	0	RPGRIP1L	52227910	0.050000	0.20438	1.000000	0.80357	0.729000	0.41735	1.698000	0.37794	2.716000	0.92895	0.650000	0.86243	TCA	RPGRIP1L	-	NULL		0.348	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	G	NM_015272		53670409	-1	no_errors	ENST00000379925	ensembl	human	known	70_37	missense	SNP	0.774	A
RPS6KA6	27330	genome.wustl.edu	37	X	83357098	83357098	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:83357098C>T	ENST00000262752.2	-	18	1730	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E575K	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	575	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTCCATTTTCTCCTCGAAGT	0.368																																																	0													130.0	112.0	118.0					X																	83357098		2203	4299	6502	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1723G>A	X.37:g.83357098C>T	ENSP00000262752:p.Glu575Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.E575K	ENST00000262752.2	37	c.1723	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048233	0.75846	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.64991	-0.13;-0.13	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.176849	0.52532	D	0.000077	T	0.52273	0.1724	N	0.21240	0.645	0.58432	D	0.999999	B;B	0.13145	0.007;0.007	B;B	0.17722	0.012;0.019	T	0.51284	-0.8725	10	0.66056	D	0.02	.	17.9644	0.89096	0.0:1.0:0.0:0.0	.	575;575	B7ZL90;Q9UK32	.;KS6A6_HUMAN	K	575	ENSP00000262752:E575K;ENSP00000440830:E575K	ENSP00000262752:E575K	E	-	1	0	RPS6KA6	83243754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.597000	0.82733	2.263000	0.75096	0.523000	0.50628	GAA	RPS6KA6	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.368	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	C	NM_014496		83357098	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	T
RPS6KA6	27330	genome.wustl.edu	37	X	83362646	83362646	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:83362646C>T	ENST00000262752.2	-	13	1103	c.1096G>A	c.(1096-1098)Gca>Aca	p.A366T	RPS6KA6_ENST00000495332.1_5'Flank|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A366T	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	366	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GGTGTTTTTGCAGTAAATTCA	0.284																																																	0													51.0	48.0	49.0					X																	83362646		2202	4294	6496	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1096G>A	X.37:g.83362646C>T	ENSP00000262752:p.Ala366Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.A366T	ENST00000262752.2	37	c.1096	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515080	0.44763	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.57752	0.38;0.38	4.26	4.26	0.50523	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.057678	0.64402	D	0.000002	T	0.41328	0.1154	N	0.20807	0.61	0.80722	D	1	B;B	0.18741	0.011;0.03	B;B	0.25759	0.021;0.063	T	0.32693	-0.9897	10	0.45353	T	0.12	.	16.2519	0.82491	0.0:1.0:0.0:0.0	.	366;366	B7ZL90;Q9UK32	.;KS6A6_HUMAN	T	366	ENSP00000262752:A366T;ENSP00000440830:A366T	ENSP00000262752:A366T	A	-	1	0	RPS6KA6	83249302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.447000	0.52936	1.829000	0.53265	0.600000	0.82982	GCA	RPS6KA6	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II		0.284	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	C	NM_014496		83362646	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23909371	23909371	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr13:23909371G>A	ENST00000382292.3	-	9	8917	c.8644C>T	c.(8644-8646)Cat>Tat	p.H2882Y	SACS_ENST00000382298.3_Missense_Mutation_p.H2882Y|SACS_ENST00000402364.1_Missense_Mutation_p.H2132Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2882					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCATTCACATGAAATGGCAGC	0.468																																																	0													62.0	63.0	63.0					13																	23909371		2203	4298	6501	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8644C>T	13.37:g.23909371G>A	ENSP00000371729:p.His2882Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.H2882Y	ENST00000382292.3	37	c.8644	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827310	0.90955	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93307	-2.81;-3.2;-2.81	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.69523	2.12	0.52099	D	0.999947	D	0.76494	0.999	D	0.75484	0.986	D	0.94453	0.7669	10	0.23302	T	0.38	.	19.1639	0.93546	0.0:0.0:1.0:0.0	.	2882	Q9NZJ4	SACS_HUMAN	Y	2882;2132;2882	ENSP00000371729:H2882Y;ENSP00000385844:H2132Y;ENSP00000371735:H2882Y	ENSP00000371729:H2882Y	H	-	1	0	SACS	22807371	1.000000	0.71417	0.972000	0.41901	0.952000	0.60782	9.476000	0.97823	2.525000	0.85131	0.555000	0.69702	CAT	SACS	-	NULL		0.468	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23909371	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	1.000	A
SCAPER	49855	genome.wustl.edu	37	15	76998298	76998298	+	Silent	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr15:76998298G>T	ENST00000563290.1	-	18	2288	c.2193C>A	c.(2191-2193)ctC>ctA	p.L731L	SCAPER_ENST00000538941.2_Silent_p.L485L|SCAPER_ENST00000324767.7_Silent_p.L731L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	731	Glu-rich.					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						GAGCAGCTGTGAGTGCTGCCA	0.323																																																	0													33.0	31.0	32.0					15																	76998298		1792	4060	5852	SO:0001819	synonymous_variant	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.2193C>A	15.37:g.76998298G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	smart_Znf_U1	p.L731	ENST00000563290.1	37	c.2193	CCDS53962.1	15																																																																																			SCAPER	-	NULL		0.323	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	G	NM_020843		76998298	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	silent	SNP	0.588	T
SETD1B	23067	genome.wustl.edu	37	12	122265698	122265698	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr12:122265698G>A	ENST00000604567.1	+	15	5595	c.5527G>A	c.(5527-5529)Gcc>Acc	p.A1843T	SETD1B_ENST00000267197.5_Missense_Mutation_p.A1800T|SETD1B_ENST00000542440.1_Missense_Mutation_p.A1800T			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	1843	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						GGGCTTGTTCGCCATGGAGCC	0.617																																																	0													86.0	85.0	85.0					12																	122265698		692	1591	2283	SO:0001583	missense	23067			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.5527G>A	12.37:g.122265698G>A	ENSP00000474253:p.Ala1843Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	F6MFW1	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.A1800T	ENST00000604567.1	37	c.5398		12	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453785	0.63290	.	.	ENSG00000139718	ENST00000542440;ENST00000267197	D;D	0.90732	-2.72;-2.72	5.09	5.09	0.68999	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93347	0.7879	L	0.41632	1.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94235	0.7480	10	0.87932	D	0	.	18.4911	0.90848	0.0:0.0:1.0:0.0	.	1800	Q9UPS6	SET1B_HUMAN	T	1800	ENSP00000442924:A1800T;ENSP00000267197:A1800T	ENSP00000267197:A1800T	A	+	1	0	SETD1B	120750081	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.860000	0.99555	2.390000	0.81377	0.561000	0.74099	GCC	SETD1B	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.617	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	G	XM_037523		122265698	+1	no_errors	ENST00000267197	ensembl	human	known	70_37	missense	SNP	1.000	A
SETD9	133383	genome.wustl.edu	37	5	56207082	56207082	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:56207082C>T	ENST00000285947.2	+	2	571	c.185C>T	c.(184-186)gCt>gTt	p.A62V	AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000475908.1_Intron|SETD9_ENST00000541720.1_Missense_Mutation_p.A62V	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	62							methyltransferase activity (GO:0008168)										GTTTTCCAGGCTCTATTCTTA	0.358																																																	0													40.0	41.0	41.0					5																	56207082		2203	4300	6503	SO:0001583	missense	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.185C>T	5.37:g.56207082C>T	ENSP00000285947:p.Ala62Val	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H713	Missense_Mutation	SNP	NULL	p.A62V	ENST00000285947.2	37	c.185	CCDS3972.1	5	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967917	0.53507	.	.	ENSG00000155542	ENST00000285947;ENST00000541720;ENST00000423328	T;T	0.32988	1.43;1.43	5.3	5.3	0.74995	.	0.172532	0.50627	D	0.000108	T	0.31071	0.0785	L	0.50333	1.59	0.32688	N	0.514517	P	0.38110	0.618	B	0.34093	0.175	T	0.44421	-0.9329	10	0.45353	T	0.12	-1.6126	18.9741	0.92728	0.0:1.0:0.0:0.0	.	62	Q8NE22	CE035_HUMAN	V	62;62;36	ENSP00000285947:A62V;ENSP00000442886:A62V	ENSP00000285947:A62V	A	+	2	0	C5orf35	56242839	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	3.145000	0.50623	2.490000	0.84030	0.655000	0.94253	GCT	SETD9	-	NULL		0.358	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD9	HGNC	protein_coding	OTTHUMT00000132304.2	C	NM_153706		56207082	+1	no_errors	ENST00000285947	ensembl	human	known	70_37	missense	SNP	1.000	T
SIPA1L2	57568	genome.wustl.edu	37	1	232650405	232650405	+	Silent	SNP	A	A	G			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:232650405A>G	ENST00000366630.1	-	2	1039	c.681T>C	c.(679-681)ccT>ccC	p.P227P	SIPA1L2_ENST00000262861.4_Silent_p.P227P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	227					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAACCCAAAAGGGACCATTG	0.468																																																	0													96.0	95.0	95.0					1																	232650405		1869	4104	5973	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.681T>C	1.37:g.232650405A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.P227	ENST00000366630.1	37	c.681	CCDS41474.1	1																																																																																			SIPA1L2	-	NULL		0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	A	XM_045839		232650405	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	silent	SNP	0.032	G
SIPA1L3	23094	genome.wustl.edu	37	19	38572484	38572484	+	Silent	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:38572484G>A	ENST00000222345.6	+	3	788	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	93					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGAGGCCCTGAGAGAGCACA	0.677																																																	0													47.0	54.0	52.0					19																	38572484		2202	4299	6501	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.279G>A	19.37:g.38572484G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.L93	ENST00000222345.6	37	c.279	CCDS33007.1	19																																																																																			SIPA1L3	-	NULL		0.677	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38572484	+1	no_errors	ENST00000222345	ensembl	human	known	70_37	silent	SNP	0.995	A
SLC12A3	6559	genome.wustl.edu	37	16	56899245	56899245	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:56899245C>A	ENST00000563236.1	+	1	123	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	SLC12A3_ENST00000262502.5_Missense_Mutation_p.P33Q|SLC12A3_ENST00000438926.2_Missense_Mutation_p.P33Q|SLC12A3_ENST00000566786.1_Missense_Mutation_p.P33Q			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	33					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GAGCCCTCTCCACCAGCTGCC	0.602																																																	0													124.0	100.0	108.0					16																	56899245		2198	4300	6498	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.98C>A	16.37:g.56899245C>A	ENSP00000456149:p.Pro33Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P33Q	ENST00000563236.1	37	c.98	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440408	0.12104	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D;D	0.84146	-1.81;-1.81	5.05	2.68	0.31781	.	0.332246	0.32593	N	0.005898	T	0.63510	0.2517	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.004	T	0.45071	-0.9286	10	0.16420	T	0.52	.	3.7185	0.08448	0.3657:0.4234:0.1238:0.0872	.	33;33;33	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Q	33	ENSP00000402152:P33Q;ENSP00000262502:P33Q	ENSP00000262502:P33Q	P	+	2	0	SLC12A3	55456746	0.763000	0.28462	0.007000	0.13788	0.301000	0.27625	2.403000	0.44530	1.090000	0.41315	0.655000	0.94253	CCA	SLC12A3	-	NULL		0.602	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	C			56899245	+1	no_errors	ENST00000438926	ensembl	human	known	70_37	missense	SNP	0.000	A
SLC25A13	10165	genome.wustl.edu	37	7	95820510	95820510	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr7:95820510C>A	ENST00000265631.5	-	7	801	c.665G>T	c.(664-666)gGa>gTa	p.G222V	SLC25A13_ENST00000416240.2_Missense_Mutation_p.G222V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G114V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	222					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CGAATTAAATCCATTAAAATA	0.368																																																	0													131.0	129.0	130.0					7																	95820510		2203	4300	6503	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.665G>T	7.37:g.95820510C>A	ENSP00000265631:p.Gly222Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.G222V	ENST00000265631.5	37	c.665	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435099	0.43224	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79247	-1.25;-1.25;-1.25	5.18	5.18	0.71444	EF-hand-like domain (1);	0.062472	0.64402	D	0.000007	T	0.71056	0.3295	L	0.36672	1.1	0.80722	D	1	B;B;B	0.34147	0.438;0.311;0.311	B;B;B	0.35182	0.197;0.097;0.097	T	0.73946	-0.3822	10	0.87932	D	0	-17.5109	14.8361	0.70183	0.0:0.8566:0.1434:0.0	.	114;222;222	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	222;222;114	ENSP00000265631:G222V;ENSP00000400101:G222V;ENSP00000440484:G114V	ENSP00000265631:G222V	G	-	2	0	SLC25A13	95658446	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.574000	0.36482	2.868000	0.98415	0.557000	0.71058	GGA	SLC25A13	-	NULL		0.368	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	C	NM_014251		95820510	-1	no_errors	ENST00000416240	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC27A1	376497	genome.wustl.edu	37	19	17611439	17611439	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:17611439C>G	ENST00000252595.7	+	9	1566	c.1469C>G	c.(1468-1470)tCa>tGa	p.S490*	SLC27A1_ENST00000598424.1_Nonsense_Mutation_p.S311*|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Nonsense_Mutation_p.S490*|SLC27A1_ENST00000598848.1_3'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	490					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCTACCTCTCAGGTGCGCAG	0.652																																																	0													41.0	43.0	43.0					19																	17611439		2203	4300	6503	SO:0001587	stop_gained	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1469C>G	19.37:g.17611439C>G	ENSP00000252595:p.Ser490*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIH2|B7Z662	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S490*	ENST00000252595.7	37	c.1469	CCDS32953.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.627497	0.96671	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	.	.	.	4.81	3.77	0.43336	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.5167	10.0628	0.42286	0.0:0.9005:0.0:0.0995	.	.	.	.	X	490	.	ENSP00000252595:S490X	S	+	2	0	SLC27A1	17472439	1.000000	0.71417	0.970000	0.41538	0.085000	0.17905	5.672000	0.68102	2.217000	0.71921	0.561000	0.74099	TCA	SLC27A1	-	pfam_AMP-dep_Synth/Lig		0.652	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	C	NM_198580		17611439	+1	no_errors	ENST00000252595	ensembl	human	known	70_37	nonsense	SNP	1.000	G
TRAPPC4	51399	genome.wustl.edu	37	11	118897365	118897365	+	IGR	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:118897365C>A	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000330775.7_Missense_Mutation_p.G272V|SLC37A4_ENST00000357590.5_Missense_Mutation_p.G273V|SLC37A4_ENST00000545985.1_Missense_Mutation_p.G273V|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.G200V	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GCCTACAAGGCCCCCAACTTC	0.587																																																	0													48.0	49.0	49.0					11																	118897365		1960	4154	6114	SO:0001628	intergenic_variant	2542			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118897365C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3A5|B4DME1	RNA	SNP	-	NULL	ENST00000533632.1	37	NULL	CCDS8407.1	11																																																																																			SLC37A4	-	-		0.587	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC37A4	HGNC	protein_coding	OTTHUMT00000389332.1	C	NM_016146		118897365	-1	no_errors	ENST00000330775	ensembl	human	known	70_37	rna	SNP	1.000	A
SLC9A1	6548	genome.wustl.edu	37	1	27440672	27440672	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:27440672G>A	ENST00000263980.3	-	2	1033	c.458C>T	c.(457-459)cCc>cTc	p.P153L	SLC9A1_ENST00000374086.3_Missense_Mutation_p.P153L|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	153					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CAGGAAGGGGGGTGTCTCGCC	0.612																																																	0													70.0	68.0	69.0					1																	27440672		2203	4300	6503	SO:0001583	missense	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.458C>T	1.37:g.27440672G>A	ENSP00000263980:p.Pro153Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.P153L	ENST00000263980.3	37	c.458	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801170	0.70567	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	T;T	0.64618	0.83;-0.11	5.69	5.69	0.88448	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	L	0.28649	0.875	0.80722	D	1	B;B	0.23128	0.063;0.08	B;B	0.22152	0.034;0.038	T	0.50550	-0.8815	10	0.51188	T	0.08	.	18.7867	0.91959	0.0:0.0:1.0:0.0	.	153;153	P19634-2;P19634	.;SL9A1_HUMAN	L	153	ENSP00000263980:P153L;ENSP00000363199:P153L	ENSP00000263980:P153L	P	-	2	0	SLC9A1	27313259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.674000	0.74487	2.692000	0.91855	0.655000	0.94253	CCC	SLC9A1	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.612	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	G	NM_003047		27440672	-1	no_errors	ENST00000263980	ensembl	human	known	70_37	missense	SNP	1.000	A
SPARCL1	8404	genome.wustl.edu	37	4	88414908	88414908	+	Silent	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:88414908G>A	ENST00000282470.6	-	4	1514	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G	SPARCL1_ENST00000418378.1_Silent_p.G348G|SPARCL1_ENST00000503414.1_Silent_p.G223G	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	348					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CATCAGTGCCGCcatcatcgc	0.522																																																	0													126.0	105.0	113.0					4																	88414908		2203	4300	6503	SO:0001819	synonymous_variant	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1044C>T	4.37:g.88414908G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2Z0|E7ESU2|Q14800	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.G348	ENST00000282470.6	37	c.1044	CCDS3622.1	4																																																																																			SPARCL1	-	pirsf_SPARC-like_p1		0.522	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	G			88414908	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	silent	SNP	0.003	A
SPTAN1	6709	genome.wustl.edu	37	9	131345416	131345416	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr9:131345416G>A	ENST00000372731.4	+	15	1977	c.1867G>A	c.(1867-1869)Gca>Aca	p.A623T	SPTAN1_ENST00000358161.5_Missense_Mutation_p.A623T|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A623T	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	623					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAGCTCTCAGCAAACCAGAG	0.463																																					NSCLC(120;833 1744 2558 35612 37579)												0													71.0	71.0	71.0					9																	131345416		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1867G>A	9.37:g.131345416G>A	ENSP00000361816:p.Ala623Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.A623T	ENST00000372731.4	37	c.1867	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55588	0.51;0.51;0.51	5.95	5.95	0.96441	.	0.050763	0.85682	D	0.000000	T	0.74129	0.3676	M	0.76328	2.33	0.80722	D	1	D;D;D;P;P	0.89917	1.0;0.997;1.0;0.456;0.866	D;D;D;B;P	0.91635	0.999;0.992;0.999;0.254;0.752	T	0.73209	-0.4055	10	0.51188	T	0.08	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	623;623;623;623;623	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	T	623	ENSP00000350882:A623T;ENSP00000361816:A623T;ENSP00000361824:A623T	ENSP00000350882:A623T	A	+	1	0	SPTAN1	130385237	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GCA	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.463	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131345416	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	A
TAS1R1	80835	genome.wustl.edu	37	1	6635241	6635241	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:6635241G>A	ENST00000333172.6	+	3	1242	c.1049G>A	c.(1048-1050)aGg>aAg	p.R350K	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R350K	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	350					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AAGGCCCCTAGGCCTTGCCAC	0.592																																																	0													43.0	39.0	40.0					1																	6635241		2203	4300	6503	SO:0001583	missense	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1049G>A	1.37:g.6635241G>A	ENSP00000331867:p.Arg350Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	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.R350K	ENST00000333172.6	37	c.1049	CCDS81.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.012|0.012	-1.672399|-1.672399	0.00758|0.00758	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000411823|ENST00000333172;ENST00000328191	.|D;D	.|0.85861	.|-2.04;-2.04	5.4|5.4	0.741|0.741	0.18336|0.18336	.|Extracellular ligand-binding receptor (1);	.|1.018270	.|0.07783	.|N	.|0.953709	T|T	0.70518|0.70518	0.3233|0.3233	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	.|B;B	.|0.21753	.|0.06;0.015	.|B;B	.|0.16289	.|0.015;0.015	T|T	0.53165|0.53165	-0.8477|-0.8477	5|10	.|0.06099	.|T	.|0.92	.|.	7.3405|7.3405	0.26633|0.26633	0.2301:0.0:0.6467:0.1232|0.2301:0.0:0.6467:0.1232	.|.	.|350;350	.|Q7RTX1-3;Q7RTX1	.|.;TS1R1_HUMAN	S|K	276|350	.|ENSP00000331867:R350K;ENSP00000327705:R350K	.|ENSP00000327705:R350K	G|R	+|+	1|2	0|0	TAS1R1|TAS1R1	6557828|6557828	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.767000|0.767000	0.26575|0.26575	0.226000|0.226000	0.20979|0.20979	-0.181000|-0.181000	0.13052|0.13052	GGC|AGG	TAS1R1	-	pfam_ANF_lig-bd_rcpt		0.592	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	G			6635241	+1	no_errors	ENST00000333172	ensembl	human	known	70_37	missense	SNP	0.000	A
TEAD1	7003	genome.wustl.edu	37	11	12923610	12923610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:12923610G>T	ENST00000526600.1	+	5	758	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	TEAD1_ENST00000361985.2_Nonsense_Mutation_p.E275*|TEAD1_ENST00000527636.1_Nonsense_Mutation_p.E275*|TEAD1_ENST00000527575.1_Intron|SCARNA16_ENST00000516520.1_RNA|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361905.4_Nonsense_Mutation_p.E260*			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	275	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGGCTTAAAGGAACTGTTTGG	0.423																																																	0													199.0	193.0	195.0					11																	12923610		2200	4294	6494	SO:0001587	stop_gained	7003			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.535G>T	11.37:g.12923610G>T	ENSP00000435393:p.Glu179*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FUP2|E7EV65	Nonsense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS	p.E260*	ENST00000526600.1	37	c.778		11	.	.	.	.	.	.	.	.	.	.	G	45	11.760938	0.99599	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000361985;ENST00000526600	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.8472	20.4745	0.99168	0.0:0.0:1.0:0.0	.	.	.	.	X	260;275;275;179	.	ENSP00000355332:E260X	E	+	1	0	TEAD1	12880186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GAA	TEAD1	-	pfam_TEA/ATTS,pirsf_TEF		0.423	TEAD1-007	PUTATIVE	basic	protein_coding	TEAD1	HGNC	protein_coding	OTTHUMT00000387220.1	G	NM_021961		12923610	+1	no_errors	ENST00000361905	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TEK	7010	genome.wustl.edu	37	9	27203078	27203078	+	Missense_Mutation	SNP	G	G	T	rs4631561	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr9:27203078G>T	ENST00000380036.4	+	13	2612	c.2170G>T	c.(2170-2172)Gcc>Tcc	p.A724S	TEK_ENST00000406359.4_Missense_Mutation_p.A681S|TEK_ENST00000519097.1_Missense_Mutation_p.A577S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	724	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> T (in dbSNP:rs4631561). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AAGCAACCCAGCCTTTTCTCA	0.478																																																	0													79.0	75.0	76.0					9																	27203078		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2170G>T	9.37:g.27203078G>T	ENSP00000369375:p.Ala724Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A724S	ENST00000380036.4	37	c.2170	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	7.076	0.569206	0.13560	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.09630	2.96;2.96;2.96	5.58	-7.66	0.01277	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.503030	0.04318	N	0.350123	T	0.02970	0.0088	N	0.03608	-0.345	0.80722	P	0.0	B;B;B;B	0.16802	0.007;0.003;0.0;0.019	B;B;B;B	0.24848	0.039;0.012;0.001;0.056	T	0.35822	-0.9773	9	0.02654	T	1	.	2.4061	0.04413	0.3333:0.306:0.2614:0.0993	.	577;757;681;724	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	S	577;724;681	ENSP00000430686:A577S;ENSP00000369375:A724S;ENSP00000383977:A681S	ENSP00000369375:A724S	A	+	1	0	TEK	27193078	0.001000	0.12720	0.298000	0.25002	0.953000	0.61014	0.297000	0.19101	-1.119000	0.02958	-0.334000	0.08254	GCC	TEK	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	G			27203078	+1	no_errors	ENST00000380036	ensembl	human	known	70_37	missense	SNP	0.023	T
TEP1	7011	genome.wustl.edu	37	14	20841187	20841187	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr14:20841187C>A	ENST00000262715.5	-	48	6974	c.6934G>T	c.(6934-6936)Gct>Tct	p.A2312S	TEP1_ENST00000545983.1_Missense_Mutation_p.A650S|TEP1_ENST00000556935.1_Missense_Mutation_p.A2204S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2312					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGGCCACAGCCTTAGCTTCC	0.517																																																	0													74.0	75.0	75.0					14																	20841187		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6934G>T	14.37:g.20841187C>A	ENSP00000262715:p.Ala2312Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2312S	ENST00000262715.5	37	c.6934	CCDS9548.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.983047|3.983047	0.74474|0.74474	.|.	.|.	ENSG00000129566|ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983|ENST00000553984	T;T;T|.	0.56941|.	2.25;2.25;0.43|.	5.77|5.77	4.83|4.83	0.62350|0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.247838|.	0.39083|.	N|.	0.001463|.	T|T	0.55289|0.55289	0.1911|0.1911	M|M	0.61703|0.61703	1.905|1.905	0.30723|0.30723	N|N	0.748074|0.748074	D;D;D;D|.	0.69078|.	0.988;0.987;0.997;0.978|.	P;P;D;P|.	0.64042|.	0.76;0.856;0.921;0.721|.	T|T	0.56902|0.56902	-0.7902|-0.7902	10|5	0.38643|.	T|.	0.18|.	-8.4612|-8.4612	11.9588|11.9588	0.52997|0.52997	0.0:0.8257:0.1743:0.0|0.0:0.8257:0.1743:0.0	.|.	650;2204;1655;2312|.	B4E0B6;G3V5X7;G3V2A4;Q99973|.	.;.;.;TEP1_HUMAN|.	S|V	2312;2312;2204;650|18	ENSP00000262715:A2312S;ENSP00000452574:A2204S;ENSP00000438849:A650S|.	ENSP00000262715:A2312S|.	A|G	-|-	1|2	0|0	TEP1|TEP1	19911027|19911027	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.959000|0.959000	0.29240|0.29240	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GCT|GGC	TEP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20841187	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	1.000	A
TERF1	7013	genome.wustl.edu	37	8	73951440	73951440	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr8:73951440G>T	ENST00000276603.5	+	9	1152	c.1129G>T	c.(1129-1131)Gct>Tct	p.A377S	TERF1_ENST00000276602.6_Missense_Mutation_p.A357S	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	377	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with RLIM.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AAAACATCGAGCTAGAAAAAG	0.338																																																	0													39.0	43.0	41.0					8																	73951440		2203	4300	6503	SO:0001583	missense	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.1129G>T	8.37:g.73951440G>T	ENSP00000276603:p.Ala377Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.A377S	ENST00000276603.5	37	c.1129	CCDS6211.1	8	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.417758	0.01136	.	.	ENSG00000147601	ENST00000276603;ENST00000276602	.	.	.	4.04	-8.08	0.01094	Transcription regulator HTH, Myb-type, DNA-binding (1);Homeodomain-related (1);Homeodomain-like (1);	1.495660	0.03887	N	0.277981	T	0.06508	0.0167	N	0.01048	-1.04	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.13845	-1.0494	9	0.02654	T	1	.	2.6027	0.04870	0.2009:0.3474:0.3201:0.1316	.	357;377	P54274-2;P54274	.;TERF1_HUMAN	S	377;357	.	ENSP00000276602:A357S	A	+	1	0	TERF1	74113994	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-1.474000	0.02337	-2.630000	0.00435	-0.535000	0.04281	GCT	TERF1	-	superfamily_Homeodomain-like,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom		0.338	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1	G	NM_017489		73951440	+1	no_errors	ENST00000276603	ensembl	human	known	70_37	missense	SNP	0.000	T
TFAP2C	7022	genome.wustl.edu	37	20	55212976	55212976	+	Silent	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr20:55212976G>A	ENST00000201031.2	+	7	1503	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	TFAP2C_ENST00000544508.1_Silent_p.L251L	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	420	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AAGAAGCCCTGATTGTCATAG	0.478																																																	0													83.0	78.0	79.0					20																	55212976		2203	4300	6503	SO:0001819	synonymous_variant	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1260G>A	20.37:g.55212976G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma	p.L420	ENST00000201031.2	37	c.1260	CCDS13454.1	20																																																																																			TFAP2C	-	pfam_TF_AP2_C		0.478	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2C	HGNC	protein_coding	OTTHUMT00000079823.2	G	NM_003222		55212976	+1	no_errors	ENST00000201031	ensembl	human	known	70_37	silent	SNP	0.980	A
TLR8	51311	genome.wustl.edu	37	X	12939924	12939924	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:12939924G>C	ENST00000218032.6	+	2	2852	c.2765G>C	c.(2764-2766)tGg>tCg	p.W922S	TLR8_ENST00000311912.5_Missense_Mutation_p.W940S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	922	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GAGAGGGATTGGGATCCGGGA	0.443																																																	0													79.0	82.0	81.0					X																	12939924		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2765G>C	X.37:g.12939924G>C	ENSP00000218032:p.Trp922Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.W922S	ENST00000218032.6	37	c.2765	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003904	0.74932	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.02345	4.33;4.33	5.97	5.97	0.96955	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.38326	N	0.001729	T	0.18551	0.0445	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00064	-1.2150	10	0.87932	D	0	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	922;940	Q9NR97;D1CS70	TLR8_HUMAN;.	S	922;940	ENSP00000218032:W922S;ENSP00000312082:W940S	ENSP00000218032:W922S	W	+	2	0	TLR8	12849845	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	9.808000	0.99193	2.532000	0.85374	0.600000	0.82982	TGG	TLR8	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.443	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	G	NM_016610		12939924	+1	no_errors	ENST00000218032	ensembl	human	known	70_37	missense	SNP	1.000	C
THOC2	57187	genome.wustl.edu	37	X	122761592	122761592	+	Silent	SNP	G	G	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:122761592G>A	ENST00000245838.8	-	23	2740	c.2709C>T	c.(2707-2709)gtC>gtT	p.V903V	THOC2_ENST00000491737.1_Silent_p.V788V|THOC2_ENST00000355725.4_Silent_p.V903V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	903					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TAAGTTTATTGACTTCTCGTT	0.383																																																	0													176.0	147.0	157.0					X																	122761592		1918	4131	6049	SO:0001819	synonymous_variant	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2709C>T	X.37:g.122761592G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.V903	ENST00000245838.8	37	c.2709	CCDS43988.1	X																																																																																			THOC2	-	pfam_THO_THOC2_C		0.383	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	G			122761592	-1	no_errors	ENST00000245838	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM132E	124842	genome.wustl.edu	37	17	32964460	32964460	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr17:32964460C>A	ENST00000321639.5	+	10	2492	c.2164C>A	c.(2164-2166)Cac>Aac	p.H722N		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	722						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTGCGGGTGCACTTTGGGAG	0.687																																																	0													31.0	36.0	34.0					17																	32964460		2203	4300	6503	SO:0001583	missense	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2164C>A	17.37:g.32964460C>A	ENSP00000316532:p.His722Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	NULL	p.H722N	ENST00000321639.5	37	c.2164	CCDS11283.1	17	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099675	0.56183	.	.	ENSG00000181291	ENST00000321639	T	0.15718	2.4	4.65	4.65	0.58169	.	0.203929	0.41823	D	0.000807	T	0.12390	0.0301	N	0.25647	0.755	0.25829	N	0.984191	B	0.24721	0.11	B	0.21546	0.035	T	0.13072	-1.0523	10	0.39692	T	0.17	-31.9963	11.5152	0.50518	0.1792:0.8208:0.0:0.0	.	722	Q6IEE7	T132E_HUMAN	N	722	ENSP00000316532:H722N	ENSP00000316532:H722N	H	+	1	0	TMEM132E	29988573	0.969000	0.33509	1.000000	0.80357	0.990000	0.78478	2.282000	0.43461	2.412000	0.81896	0.549000	0.68633	CAC	TMEM132E	-	NULL		0.687	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	C	NM_207313		32964460	+1	no_errors	ENST00000321639	ensembl	human	known	70_37	missense	SNP	1.000	A
TNKS2	80351	genome.wustl.edu	37	10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N622fs	ENST00000371627.4	37	c.1856_1857	CCDS7417.1	10																																																																																			TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	-	NM_025235		93601946	+1	no_errors	ENST00000371627	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.997	A
TTLL5	23093	genome.wustl.edu	37	14	76420881	76420882	+	3'UTR	INS	-	-	T	rs368697896		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr14:76420881_76420882insT	ENST00000298832.9	+	0	4143_4144					NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTCCATAGTATTTTTTTTTTT	0.46																																																	0																																										SO:0001624	3_prime_UTR_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.*93->T	14.37:g.76420892_76420892dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	RNA	INS	-	NULL	ENST00000298832.9	37	NULL	CCDS32124.1	14																																																																																			TTLL5	-	-		0.460	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	-	NM_015072		76420882	+1	no_errors	ENST00000554972	ensembl	human	known	70_37	rna	INS	0.000:0.005	T
UROD	7389	genome.wustl.edu	37	1	45479966	45479967	+	Intron	INS	-	-	T	rs57055690|rs575204537	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:45479966_45479967insT	ENST00000246337.4	+	7	755				HECTD3_ENST00000372172.4_5'Flank|UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase						heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGGAAAGtaaattttttttttt	0.426									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	7389	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.637-144->T	1.37:g.45479977_45479977dupT		Somatic	931	WXS	Illumina HiSeq	Phase_IV	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	RNA	INS	-	NULL	ENST00000246337.4	37	NULL	CCDS518.1	1																																																																																			UROD	-	-		0.426	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROD	HGNC	protein_coding	OTTHUMT00000024803.1	-	NM_000374		45479967	+1	no_errors	ENST00000472254	ensembl	human	known	70_37	rna	INS	0.001:0.007	T
VCAN	1462	genome.wustl.edu	37	5	82785938	82785938	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:82785938C>T	ENST00000265077.3	+	3	657	c.92C>T	c.(91-93)cCg>cTg	p.P31L	VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000513984.1_Missense_Mutation_p.P31L|VCAN_ENST00000502527.2_Missense_Mutation_p.P31L|VCAN_ENST00000342785.4_Missense_Mutation_p.P31L|VCAN_ENST00000343200.5_Missense_Mutation_p.P31L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	31	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAAGCCCACCGGTGAGGGGC	0.408																																																	0													47.0	47.0	47.0					5																	82785938		2200	4284	6484	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.92C>T	5.37:g.82785938C>T	ENSP00000265077:p.Pro31Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.P31L	ENST00000265077.3	37	c.92	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560372	0.27827	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.098581	0.45606	D	0.000348	T	0.38161	0.1030	L	0.59967	1.855	0.49798	D	0.999827	B;P;P;P;B	0.44478	0.237;0.836;0.628;0.818;0.13	B;B;B;P;B	0.46026	0.066;0.248;0.123;0.501;0.079	T	0.08659	-1.0711	10	0.51188	T	0.08	.	14.0465	0.64708	0.0:0.9225:0.0:0.0775	.	31;31;31;31;31	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	L	31	ENSP00000265077:P31L;ENSP00000340062:P31L;ENSP00000342768:P31L;ENSP00000426251:P31L;ENSP00000426715:P31L;ENSP00000421362:P31L	ENSP00000265077:P31L	P	+	2	0	VCAN	82821694	0.002000	0.14202	0.014000	0.15608	0.012000	0.07955	1.835000	0.39181	2.843000	0.97960	0.655000	0.94253	CCG	VCAN	-	pfam_Ig_V-set,smart_Ig_sub		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82785938	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.900	T
WDFY4	57705	genome.wustl.edu	37	10	50034953	50034953	+	Splice_Site	SNP	A	A	T			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr10:50034953A>T	ENST00000325239.5	+	35	6247	c.6220A>T	c.(6220-6222)Agt>Tgt	p.S2074C	WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2074						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CAATGAGAGAAGGTAAGAGCT	0.458																																																	0													96.0	77.0	83.0					10																	50034953		692	1591	2283	SO:0001630	splice_region_variant	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.6221+1A>T	10.37:g.50034953A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S2074C	ENST00000325239.5	37	c.6220	CCDS44385.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.14|16.14|16.14	3.040187|3.040187|3.040187	0.55003|0.55003|0.55003	.|.|.	.|.|.	ENSG00000128815|ENSG00000128815|ENSG00000128815	ENST00000265453|ENST00000312002|ENST00000426033;ENST00000325239	.|.|T	.|.|0.59906	.|.|0.23	5.62|5.62|5.62	5.62|5.62|5.62	0.85841|0.85841|0.85841	.|.|.	.|.|0.543177	.|.|0.17632	.|.|N	.|.|0.167356	T|T|T	0.75803|0.75803|0.75803	0.3899|0.3899|0.3899	M|M|M	0.74258|0.74258|0.74258	2.255|2.255|2.255	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.89917	.|.|1.0	.|.|D	.|.|0.85130	.|.|0.997	T|T|T	0.75986|0.75986|0.75986	-0.3124|-0.3124|-0.3124	5|5|9	.|.|.	.|.|.	.|.|.	.|.|.	15.0036|15.0036|15.0036	0.71495|0.71495|0.71495	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|2074	.|.|Q6ZS81	.|.|WDFY4_HUMAN	D|M|C	160|1164|2074	.|.|ENSP00000320563:S2074C	.|.|.	E|K|S	+|+|+	3|2|1	2|0|0	WDFY4|WDFY4|WDFY4	49704959|49704959|49704959	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.896000|0.896000|0.896000	0.35187|0.35187|0.35187	0.077000|0.077000|0.077000	0.17291|0.17291|0.17291	7.764000|7.764000|7.764000	0.85297|0.85297|0.85297	2.138000|2.138000|2.138000	0.66242|0.66242|0.66242	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|AAG|AGT	WDFY4	-	NULL		0.458	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		A	XM_033379	Missense_Mutation	50034953	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	missense	SNP	1.000	T
WNK2	65268	genome.wustl.edu	37	9	96015293	96015293	+	Missense_Mutation	SNP	C	C	T	rs561344476		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr9:96015293C>T	ENST00000297954.4	+	8	1963	c.1963C>T	c.(1963-1965)Cct>Tct	p.P655S	WNK2_ENST00000349097.3_Missense_Mutation_p.P267S|WNK2_ENST00000395475.2_Missense_Mutation_p.P641S|WNK2_ENST00000427277.2_Missense_Mutation_p.P267S|WNK2_ENST00000395477.2_Missense_Mutation_p.P655S|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	655					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTGCAGCCCCCCTGTGAGCGA	0.687																																																	0													16.0	13.0	14.0					9																	96015293		2184	4267	6451	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1963C>T	9.37:g.96015293C>T	ENSP00000297954:p.Pro655Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P655S	ENST00000297954.4	37	c.1963		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.138020|2.138020	0.37728|0.37728	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277	T|T;T;T;T;T;T	0.63913|0.71461	-0.07|-0.57;-0.57;-0.54;-0.55;0.06;0.05	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.123149|0.123149	0.56097|0.56097	D|D	0.000031|0.000031	T|T	0.81163|0.81163	0.4765|0.4765	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.998;0.998;0.996;0.998;0.996	T|T	0.80254|0.80254	-0.1459|-0.1459	8|10	0.66056|0.37606	D|T	0.02|0.19	.|.	17.892|17.892	0.88875|0.88875	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|655;655;258;655;655	.|Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	L|S	258|655;655;655;641;267;267	ENSP00000414622:P258L|ENSP00000412465:P655S;ENSP00000297954:P655S;ENSP00000378860:P655S;ENSP00000378858:P641S;ENSP00000297876:P267S;ENSP00000411181:P267S	ENSP00000414622:P258L|ENSP00000297954:P655S	P|P	+|+	2|1	0|0	WNK2|WNK2	95055114|95055114	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.184000|0.184000	0.23303|0.23303	5.728000|5.728000	0.68531|0.68531	2.190000|2.190000	0.69967|0.69967	0.655000|0.655000	0.94253|0.94253	CCC|CCT	WNK2	-	NULL		0.687	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	C	NM_006648		96015293	+1	no_errors	ENST00000297954	ensembl	human	known	70_37	missense	SNP	0.988	T
YEATS2	55689	genome.wustl.edu	37	3	183469915	183469915	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:183469915C>G	ENST00000305135.5	+	10	1219	c.1024C>G	c.(1024-1026)Cag>Gag	p.Q342E		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	342					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATCTATCCTCAGTCCTCGGA	0.483																																																	0													203.0	193.0	196.0					3																	183469915		1972	4160	6132	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1024C>G	3.37:g.183469915C>G	ENSP00000306983:p.Gln342Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.Q342E	ENST00000305135.5	37	c.1024	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	9.208	1.030186	0.19512	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.21734	1.99	5.35	4.44	0.53790	.	0.365346	0.25258	N	0.031977	T	0.15478	0.0373	L	0.29908	0.895	0.34395	D	0.694633	B	0.13594	0.008	B	0.06405	0.002	T	0.14337	-1.0476	10	0.15499	T	0.54	0.5066	14.0057	0.64461	0.0:0.8484:0.1516:0.0	.	342	Q9ULM3	YETS2_HUMAN	E	342	ENSP00000306983:Q342E	ENSP00000306983:Q342E	Q	+	1	0	YEATS2	184952609	1.000000	0.71417	0.949000	0.38748	0.162000	0.22319	2.972000	0.49256	1.188000	0.43014	0.655000	0.94253	CAG	YEATS2	-	NULL		0.483	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	C	NM_018023		183469915	+1	no_errors	ENST00000305135	ensembl	human	known	70_37	missense	SNP	1.000	G
YEATS2	55689	genome.wustl.edu	37	3	183469988	183469988	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:183469988C>G	ENST00000305135.5	+	10	1292	c.1097C>G	c.(1096-1098)tCt>tGt	p.S366C		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	366					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGAAAGCTTCTTCACCAATA	0.483																																																	0													156.0	147.0	150.0					3																	183469988		1945	4150	6095	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1097C>G	3.37:g.183469988C>G	ENSP00000306983:p.Ser366Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S366C	ENST00000305135.5	37	c.1097	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922184	0.52653	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.31769	1.48	5.15	4.27	0.50696	.	0.370723	0.25668	N	0.029095	T	0.29882	0.0747	L	0.29908	0.895	0.39980	D	0.974903	D	0.59767	0.986	P	0.49708	0.62	T	0.05767	-1.0865	10	0.49607	T	0.09	-5.7851	12.251	0.54597	0.0:0.9195:0.0:0.0805	.	366	Q9ULM3	YETS2_HUMAN	C	366	ENSP00000306983:S366C	ENSP00000306983:S366C	S	+	2	0	YEATS2	184952682	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.705000	0.47127	2.417000	0.82017	0.655000	0.94253	TCT	YEATS2	-	NULL		0.483	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	C	NM_018023		183469988	+1	no_errors	ENST00000305135	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF557	79230	genome.wustl.edu	37	19	7076482	7076482	+	Missense_Mutation	SNP	G	G	A	rs561457120		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:7076482G>A	ENST00000439035.2	+	5	430	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	ZNF557_ENST00000414706.1_Missense_Mutation_p.V71M|ZNF557_ENST00000252840.6_Missense_Mutation_p.V71M			Q8N988	ZN557_HUMAN	zinc finger protein 557	64	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)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTACAGGGACGTGATGCTGGA	0.493																																																	0													142.0	130.0	134.0					19																	7076482		2203	4300	6503	SO:0001583	missense	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.190G>A	19.37:g.7076482G>A	ENSP00000398965:p.Val64Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PEJ3|Q9BTZ1	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.V71M	ENST00000439035.2	37	c.211	CCDS45945.1	19	.	.	.	.	.	.	.	.	.	.	.	13.95	2.389551	0.42410	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.04015	3.73;3.73;3.73	1.73	0.672	0.17935	Krueppel-associated box (4);	.	.	.	.	T	0.21347	0.0514	M	0.90309	3.105	0.22940	N	0.998535	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.985	T	0.03175	-1.1064	9	0.66056	D	0.02	.	6.1154	0.20124	0.1801:0.0:0.8199:0.0	.	64;71	Q8N988;Q8N988-2	ZN557_HUMAN;.	M	71;71;64	ENSP00000252840:V71M;ENSP00000404065:V71M;ENSP00000398965:V64M	ENSP00000252840:V71M	V	+	1	0	ZNF557	7027482	0.960000	0.32886	0.118000	0.21660	0.078000	0.17371	1.517000	0.35867	0.291000	0.22468	0.313000	0.20887	GTG	ZNF557	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.493	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF557	HGNC	protein_coding	OTTHUMT00000458502.1	G	NM_024341		7076482	+1	no_errors	ENST00000252840	ensembl	human	known	70_37	missense	SNP	0.853	A
ZNF598	90850	genome.wustl.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014|rs377495742|rs370831505|rs141374045	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)gac>gaGGAc	p.500_501insE	ZNF598_ENST00000562103.1_In_Frame_Ins_p.500_501insE|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_In_Frame_Ins_p.555_556insE			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703														518	0.103435	0.0061	0.1801	5008	,	,		13556	0.0387		0.1501	False		,,,				2504	0.1994																1	Insertion - In frame(1)	kidney(1)																																								SO:0001652	inframe_insertion	90850			BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1500_1502dupGGA	16.37:g.2049889_2049891dupTCC	ENSP00000455882:p.Glu500_Glu500dup	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Ins	INS	superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING	p.556in_frame_insE	ENST00000563630.1	37	c.1668_1667		16																																																																																			ZNF598	-	NULL		0.703	ZNF598-001	NOVEL	basic	protein_coding	ZNF598	HGNC	protein_coding	OTTHUMT00000434439.1	-	NM_178167		2049883	-1	no_errors	ENST00000431526	ensembl	human	known	70_37	in_frame_ins	INS	0.000:0.023	TCC
ZNF800	168850	genome.wustl.edu	37	7	127014880	127014880	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr7:127014880T>C	ENST00000393313.1	-	5	1101	c.510A>G	c.(508-510)atA>atG	p.I170M	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Missense_Mutation_p.I170M|ZNF800_ENST00000265827.3_Missense_Mutation_p.I170M			Q2TB10	ZN800_HUMAN	zinc finger protein 800	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TAGTTTCCTGTATCTGAACTT	0.398																																																	0													132.0	127.0	129.0					7																	127014880		2203	4300	6503	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.510A>G	7.37:g.127014880T>C	ENSP00000376989:p.Ile170Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HBN0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I170M	ENST00000393313.1	37	c.510	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	T	5.998	0.367968	0.11352	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602	T;T;T;T	0.47528	2.46;2.46;2.46;0.84	5.38	0.0998	0.14504	.	0.516576	0.24429	N	0.038618	T	0.23611	0.0571	N	0.12182	0.205	0.28492	N	0.914422	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07462	-1.0771	9	0.40728	T	0.16	6.4934	5.6624	0.17676	0.0:0.2943:0.2474:0.4583	.	73;170	B7Z4V7;Q2TB10	.;ZN800_HUMAN	M	170	ENSP00000376989:I170M;ENSP00000265827:I170M;ENSP00000376988:I170M;ENSP00000403945:I170M	ENSP00000265827:I170M	I	-	3	3	ZNF800	126802116	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.496000	0.22499	0.080000	0.16959	0.528000	0.53228	ATA	ZNF800	-	NULL		0.398	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	T	NM_176814		127014880	-1	no_errors	ENST00000265827	ensembl	human	known	70_37	missense	SNP	0.994	C
