#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_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AOC1	26	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150554284	150554284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:150554284C>A	ENST00000493429.1	+	4	1310	c.726C>A	c.(724-726)ttC>ttA	p.F242L	AOC1_ENST00000416793.2_Missense_Mutation_p.F242L|AOC1_ENST00000467291.1_Missense_Mutation_p.F242L|AOC1_ENST00000360937.4_Missense_Mutation_p.F242L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	242					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.F242L(1)								Amiloride(DB00594)	ACGGGAAGTTCTATGGGAGCC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											63.0	71.0	68.0					7																	150554284		2079	4205	6284	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.726C>A	7.37:g.150554284C>A	ENSP00000418614:p.Phe242Leu	Somatic		WXS	Illumina HiSeq	Phase_I	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	8.789	0.929998	0.18131	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	4.74	4.74	0.60224	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.443324	0.26688	N	0.023005	T	0.12518	0.0304	L	0.34521	1.04	0.37481	D	0.916002	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.08994	-1.0695	10	0.34782	T	0.22	-7.6839	8.7648	0.34696	0.0:0.8998:0.0:0.1002	.	242;242	C9J690;P19801	.;ABP1_HUMAN	L	242;242;242;242;242;118;242	ENSP00000418614:F242L;ENSP00000418328:F242L;ENSP00000418557:F242L;ENSP00000354193:F242L;ENSP00000411613:F242L;ENSP00000417392:F242L	ENSP00000354193:F242L	F	+	3	2	ABP1	150185217	1.000000	0.71417	0.998000	0.56505	0.383000	0.30230	0.787000	0.26858	2.460000	0.83146	0.561000	0.74099	TTC		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1		NM_001091	
AIM1L	55057	hgsc.bcm.edu	37	1	26672402	26672403	+	5'Flank	INS	-	-	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:26672402_26672403insG	ENST00000308182.5	-	0	0				AIM1L_ENST00000527815.1_5'Flank|RN7SL490P_ENST00000579210.1_RNA			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like								carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGTGACTGGCAGGGGGGCTGTG	0.698																																																	0																																										SO:0001631	upstream_gene_variant	55057					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490		1.37:g.26672408_26672408dupG	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNG3|Q5T137|Q5T150	Frame_Shift_Ins	INS	ENST00000308182.5	37																																																																																					0.698	AIM1L-201	KNOWN	basic	protein_coding	protein_coding			NM_001039775.2	
ANKS4B	257629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21261382	21261382	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr16:21261382C>G	ENST00000311620.5	+	2	568	c.495C>G	c.(493-495)taC>taG	p.Y165*		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	165					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.Y165*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCCACACCTACAGCAAGGAGG	0.522																																																	1	Substitution - Nonsense(1)	kidney(1)											74.0	76.0	75.0					16																	21261382		2020	4183	6203	SO:0001587	stop_gained	257629			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.495C>G	16.37:g.21261382C>G	ENSP00000308772:p.Tyr165*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000311620.5	37	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275037	0.59649	.	.	ENSG00000175311	ENST00000311620	.	.	.	5.77	1.58	0.23477	.	0.342508	0.31438	N	0.007646	.	.	.	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5719	8.3784	0.32457	0.0:0.6126:0.0:0.3874	.	.	.	.	X	165	.	ENSP00000308772:Y165X	Y	+	3	2	ANKS4B	21168883	0.210000	0.23517	0.267000	0.24556	0.589000	0.36550	-0.431000	0.06965	0.066000	0.16515	-0.218000	0.12543	TAC		0.522	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1		NM_145865	
ARHGAP32	9743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	128839969	128839969	+	Silent	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:128839969C>T	ENST00000310343.9	-	22	5096	c.5097G>A	c.(5095-5097)aaG>aaA	p.K1699K	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.K1350K|ARHGAP32_ENST00000527272.1_Silent_p.K1350K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1699	Interaction with FYN.|Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.K1350K(1)|p.K1699K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGTACAAGCTCTTTCCTTGCA	0.537																																																	2	Substitution - coding silent(2)	kidney(2)											92.0	85.0	88.0					11																	128839969		2201	4297	6498	SO:0001819	synonymous_variant	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5097G>A	11.37:g.128839969C>T		Somatic		WXS	Illumina HiSeq	Phase_I	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1																																																																																				0.537	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715	
BACH1	571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30714928	30714928	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr21:30714928G>T	ENST00000399921.1	+	5	2228	c.1985G>T	c.(1984-1986)gGt>gTt	p.G662V	BACH1_ENST00000286800.3_Missense_Mutation_p.G662V	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G662V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACTCCTGATGGTGAACTGGCG	0.478																																																	1	Substitution - Missense(1)	kidney(1)											81.0	87.0	85.0					21																	30714928		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1985G>T	21.37:g.30714928G>T	ENSP00000382805:p.Gly662Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509599	0.44660	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72505	-0.66;-0.66	5.86	4.95	0.65309	.	0.227077	0.39146	N	0.001455	T	0.63379	0.2506	L	0.50333	1.59	0.21861	N	0.999501	P	0.46706	0.883	B	0.38458	0.274	T	0.60752	-0.7201	10	0.27785	T	0.31	-24.1648	16.1896	0.81977	0.0:0.2449:0.7551:0.0	.	662	O14867	BACH1_HUMAN	V	662	ENSP00000286800:G662V;ENSP00000382805:G662V	ENSP00000286800:G662V	G	+	2	0	BACH1	29636799	0.317000	0.24589	0.065000	0.19835	0.038000	0.13279	3.246000	0.51414	2.781000	0.95711	0.650000	0.86243	GGT		0.478	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1		NM_206866	
BLK	640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11412944	11412944	+	Silent	SNP	C	C	G	rs149756811		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr8:11412944C>G	ENST00000259089.4	+	8	1315	c.723C>G	c.(721-723)ctC>ctG	p.L241L	RP11-148O21.4_ENST00000528629.1_RNA|RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Silent_p.L170L|RP11-148O21.6_ENST00000602626.1_lincRNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L241L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GGCAGTCTCTCAGGCTGGTCA	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	96.0	95.0					8																	11412944		2203	4300	6503	SO:0001819	synonymous_variant	640			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.723C>G	8.37:g.11412944C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	CCDS5982.1																																																																																				0.637	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			
BSN	8927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49690033	49690033	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:49690033G>A	ENST00000296452.4	+	5	3158	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1015					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.R1015H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGCAGGCAGCGTCTAGAAGAA	0.657																																																	1	Substitution - Missense(1)	kidney(1)											30.0	32.0	32.0					3																	49690033		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3044G>A	3.37:g.49690033G>A	ENSP00000296452:p.Arg1015His	Somatic		WXS	Illumina HiSeq	Phase_I	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560464	0.45590	.	.	ENSG00000164061	ENST00000296452	T	0.19938	2.11	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.68952	2.095	0.36813	D	0.885983	D	0.89917	1.0	D	0.64410	0.925	T	0.48906	-0.8993	10	0.44086	T	0.13	.	18.673	0.91518	0.0:0.0:1.0:0.0	.	1015	Q9UPA5	BSN_HUMAN	H	1015	ENSP00000296452:R1015H	ENSP00000296452:R1015H	R	+	2	0	BSN	49665037	1.000000	0.71417	0.987000	0.45799	0.910000	0.53928	5.607000	0.67648	2.413000	0.81919	0.561000	0.74099	CGT		0.657	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458	
BTF3L4	91408	broad.mit.edu;hgsc.bcm.edu	37	1	52552415	52552415	+	Silent	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:52552415G>A	ENST00000313334.8	+	6	730	c.462G>A	c.(460-462)aaG>aaA	p.K154K	BTF3L4_ENST00000489308.2_3'UTR|BTF3L4_ENST00000472944.2_Silent_p.K96K	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	154								p.K154K(1)		endometrium(2)|kidney(1)|large_intestine(2)	5						AGGCATCAAAGAATGAAGCTA	0.323																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	68.0	67.0					1																	52552415		2203	4296	6499	SO:0001819	synonymous_variant	91408			BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.462G>A	1.37:g.52552415G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KNJ1|D3DQ32|G3V1C6	Silent	SNP	ENST00000313334.8	37	CCDS30713.1																																																																																				0.323	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024848.1		NM_152265	
CACNG4	27092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65021007	65021007	+	Silent	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:65021007C>T	ENST00000262138.3	+	3	338	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	112					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.I112I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCTTCCCCATCCTCAGCACCA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	98.0	103.0					17																	65021007		2203	4300	6503	SO:0001819	synonymous_variant	27092			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.336C>T	17.37:g.65021007C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCK0	Silent	SNP	ENST00000262138.3	37	CCDS11667.1																																																																																				0.652	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1		NM_014405	
CD22	933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35827039	35827039	+	Silent	SNP	G	G	T	rs534159105		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr19:35827039G>T	ENST00000085219.5	+	4	579	c.513G>T	c.(511-513)ccG>ccT	p.P171P	CD22_ENST00000536635.2_Silent_p.P171P|CD22_ENST00000341773.6_Silent_p.P171P|CD22_ENST00000419549.2_Intron|CD22_ENST00000544992.2_Silent_p.P171P|CD22_ENST00000270311.6_Silent_p.P51P|CD22_ENST00000594250.1_Silent_p.P171P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	171	Ig-like C2-type 1.				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)	p.P171P(2)		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)			ATGGGTATCCGATCCAATTGC	0.532																																					Ovarian(42;1009 1133 23674 26041)												2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											94.0	98.0	96.0					19																	35827039		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.513G>T	19.37:g.35827039G>T		Somatic		WXS	Illumina HiSeq	Phase_I	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	CCDS12457.1																																																																																				0.532	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1		NM_001771	
CDH10	1008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	24491776	24491776	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr5:24491776C>T	ENST00000264463.4	-	11	2292	c.1785G>A	c.(1783-1785)atG>atA	p.M595I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	595	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M595I(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCAGGATTGCATGTTGCCTT	0.532										HNSCC(23;0.051)																																							1	Substitution - Missense(1)	kidney(1)											156.0	135.0	142.0					5																	24491776		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1785G>A	5.37:g.24491776C>T	ENSP00000264463:p.Met595Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586922	0.46110	.	.	ENSG00000040731	ENST00000264463	T	0.53857	0.6	5.89	5.89	0.94794	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.46670	1.46	0.58432	D	0.999997	B	0.11235	0.004	B	0.15484	0.013	T	0.42258	-0.9462	10	0.10636	T	0.68	.	19.2409	0.93883	0.0:1.0:0.0:0.0	.	595	Q9Y6N8	CAD10_HUMAN	I	595	ENSP00000264463:M595I	ENSP00000264463:M595I	M	-	3	0	CDH10	24527533	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.773000	0.85462	2.788000	0.95919	0.557000	0.71058	ATG		0.532	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2		NM_006727	
CHST4	10164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71570851	71570851	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr16:71570851C>T	ENST00000338482.5	+	3	614	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	CHST4_ENST00000539698.3_Missense_Mutation_p.H91Y|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.H91Y|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	91					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.H91Y(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CTGGATGCTGCACATGGCTGT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											90.0	93.0	92.0					16																	71570851		2198	4300	6498	SO:0001583	missense	10164			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.271C>T	16.37:g.71570851C>T	ENSP00000341206:p.His91Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563360	0.45694	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.81579	-1.51;-1.51	6.0	4.02	0.46733	Sulfotransferase domain (1);	0.255560	0.40469	N	0.001085	D	0.89336	0.6686	M	0.84082	2.675	0.36553	D	0.871995	D	0.64830	0.994	D	0.68943	0.961	D	0.91807	0.5456	10	0.49607	T	0.09	-8.1299	14.822	0.70080	0.0:0.726:0.274:0.0	.	91	Q8NCG5	CHST4_HUMAN	Y	91	ENSP00000341206:H91Y;ENSP00000441204:H91Y	ENSP00000341206:H91Y	H	+	1	0	CHST4	70128352	1.000000	0.71417	0.992000	0.48379	0.030000	0.12068	2.479000	0.45197	0.842000	0.35045	-0.176000	0.13171	CAC		0.582	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4		NM_005769	
CNTNAP1	8506	broad.mit.edu;hgsc.bcm.edu	37	17	40836243	40836243	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:40836243A>G	ENST00000264638.4	+	3	576	c.359A>G	c.(358-360)aAc>aGc	p.N120S	CCR10_ENST00000332438.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	120	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.N120S(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGAGGGCACAACTCGGTACTC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											93.0	94.0	93.0					17																	40836243		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.359A>G	17.37:g.40836243A>G	ENSP00000264638:p.Asn120Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733072	0.69189	.	.	ENSG00000108797	ENST00000264638	D	0.97186	-4.28	5.42	5.42	0.78866	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000003	D	0.96873	0.8979	L	0.35593	1.075	0.45097	D	0.998112	D	0.76494	0.999	D	0.70487	0.969	D	0.96197	0.9142	10	0.29301	T	0.29	.	15.1306	0.72520	1.0:0.0:0.0:0.0	.	120	P78357	CNTP1_HUMAN	S	120	ENSP00000264638:N120S	ENSP00000264638:N120S	N	+	2	0	CNTNAP1	38089769	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	6.779000	0.75057	2.063000	0.61619	0.379000	0.24179	AAC		0.607	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1		NM_003632	
COL5A2	1290	hgsc.bcm.edu;ucsc.edu	37	2	189925460	189925464	+	Frame_Shift_Del	DEL	TCACC	TCACC	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	TCACC	TCACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr2:189925460_189925464delTCACC	ENST00000374866.3	-	31	2351_2355	c.2077_2081delGGTGA	c.(2077-2082)ggtgatfs	p.GD693fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	693					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACTTACTTGATCACCTGGTTTTCCA	0.385																																																	0																																										SO:0001589	frameshift_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2077_2081delGGTGA	2.37:g.189925460_189925464delTCACC	ENSP00000364000:p.Gly693fs	Somatic		WXS	Illumina HiSeq	Phase_I	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Frame_Shift_Del	DEL	ENST00000374866.3	37	CCDS33350.1																																																																																				0.385	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1		NM_000393	
COL4A3	1285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228176506	228176506	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr2:228176506C>T	ENST00000396578.3	+	52	5095	c.4933C>T	c.(4933-4935)Cct>Tct	p.P1645S	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1645	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.A1587V(1)|p.P1645S(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTCAGAAAGCCTATTCCATC	0.299																																																	2	Substitution - Missense(2)	kidney(2)											49.0	49.0	49.0					2																	228176506		1792	4062	5854	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4933C>T	2.37:g.228176506C>T	ENSP00000379823:p.Pro1645Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.255978|4.255978	0.80246|0.80246	.|.	.|.	ENSG00000169031|ENSG00000169031	ENST00000328380|ENST00000396578	.|D	.|0.98105	.|-4.72	6.08|6.08	6.08|6.08	0.98989|0.98989	.|C-type lectin fold (1);	.|0.000000	.|0.64402	.|D	.|0.000009	D|D	0.99032|0.99032	0.9669|0.9669	M|M	0.89658|0.89658	3.05|3.05	0.80722|0.80722	D|D	1|1	B|D	0.29988|0.89917	0.264|1.0	B|D	0.28011|0.91635	0.085|0.999	D|D	0.99075|0.99075	1.0835|1.0835	8|9	0.87932|.	D|.	0|.	.|.	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1587|1645	Q01955-2|Q01955	.|CO4A3_HUMAN	V|S	1587|1645	.|ENSP00000379823:P1645S	ENSP00000327594:A1587V|.	A|P	+|+	2|1	0|0	COL4A3|COL4A3	227884750|227884750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.456000|7.456000	0.80751|0.80751	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.299	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091	
CTCFL	140690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	56099123	56099123	+	Silent	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr20:56099123A>G	ENST00000608263.1	-	1	800	c.139T>C	c.(139-141)Ttg>Ctg	p.L47L	CTCFL_ENST00000432255.2_Silent_p.L47L|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000481655.2_Silent_p.L47L|CTCFL_ENST00000371196.2_Silent_p.L47L|CTCFL_ENST00000608158.1_Silent_p.L47L|CTCFL_ENST00000608440.1_Silent_p.L47L|CTCFL_ENST00000429804.3_Silent_p.L47L|CTCFL_ENST00000243914.3_Silent_p.L47L|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000422869.2_Silent_p.L47L|CTCFL_ENST00000423479.3_Silent_p.L47L|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608425.1_Silent_p.L47L|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000609232.1_Silent_p.L47L	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	47					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.L47L(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCGGCCTCCAACTCACTAGGG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											169.0	184.0	179.0					20																	56099123		2203	4300	6503	SO:0001819	synonymous_variant	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.139T>C	20.37:g.56099123A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	CCDS13459.1																																																																																				0.572	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1		NM_080618	
SPECC1	92521	broad.mit.edu;ucsc.edu	37	17	20108270	20108270	+	Missense_Mutation	SNP	A	A	G	rs367950456		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:20108270A>G	ENST00000261503.5	+	4	959	c.908A>G	c.(907-909)aAc>aGc	p.N303S	SPECC1_ENST00000472876.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395530.2_Missense_Mutation_p.N222S|SPECC1_ENST00000395525.3_Missense_Mutation_p.N222S|SPECC1_ENST00000395529.3_Missense_Mutation_p.N303S|SPECC1_ENST00000395527.4_Missense_Mutation_p.N303S|SPECC1_ENST00000395522.2_Missense_Mutation_p.N222S|SPECC1_ENST00000584527.1_5'Flank	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	303	Ser-rich.				cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.N303S(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TATAAAAAAAACATACATGGA	0.453																																																	1	Substitution - Missense(1)	kidney(1)						A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	81.0	88.0	86.0		908,665,665,908	-3.8	0.0	17		86	0,8600		0,0,4300	no	missense,missense,missense,missense	SPECC1	NM_001033553.2,NM_001033554.2,NM_001033555.2,NM_152904.4	46,46,46,46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign,benign,benign	303/1069,222/710,222/988,303/791	20108270	1,13005	2203	4300	6503	SO:0001583	missense	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.908A>G	17.37:g.20108270A>G	ENSP00000261503:p.Asn303Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	A	3.548	-0.092315	0.07053	2.27E-4	0.0	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.62498	0.02;3.01;3.01;3.01	5.38	-3.8	0.04307	.	1.662880	0.02661	N	0.107515	T	0.49915	0.1585	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.002;0.002;0.001	B;B;B;B;B	0.09377	0.004;0.003;0.003;0.003;0.004	T	0.30416	-0.9979	10	0.26408	T	0.33	-2.3443	9.1654	0.37048	0.334:0.524:0.142:0.0	.	303;222;222;303;303	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	S	303;303;303;222;222;222	ENSP00000261503:N303S;ENSP00000378900:N303S;ENSP00000378893:N222S;ENSP00000378896:N222S	ENSP00000261503:N303S	N	+	2	0	SPECC1	20048862	0.000000	0.05858	0.000000	0.03702	0.426000	0.31534	-0.500000	0.06405	-0.506000	0.06558	0.533000	0.62120	AAC		0.453	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1		NM_152904	
EPHA10	284656	hgsc.bcm.edu	37	1	38227130	38227136	+	Frame_Shift_Del	DEL	ACAGGCA	ACAGGCA	-	rs199745246	byFrequency	TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	ACAGGCA	ACAGGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:38227130_38227136delACAGGCA	ENST00000373048.4	-	3	790_796	c.791_797delTGCCTGT	c.(790-798)gtgcctgtgfs	p.VPV264fs	EPHA10_ENST00000427468.2_Frame_Shift_Del_p.VPV264fs|EPHA10_ENST00000319637.6_Frame_Shift_Del_p.VPV264fs	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	264					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGCGGCCCACAGGCACCAGCCACTC	0.686																																																	0																																										SO:0001589	frameshift_variant	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.791_797delTGCCTGT	1.37:g.38227130_38227136delACAGGCA	ENSP00000362139:p.Val264fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4FU89|J3KPB5|Q6NW42	Frame_Shift_Del	DEL	ENST00000373048.4	37	CCDS41305.1																																																																																				0.686	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2		NM_173641	
DCST2	127579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154995893	154995893	+	Silent	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:154995893G>A	ENST00000368424.3	-	13	1969	c.1911C>T	c.(1909-1911)acC>acT	p.T637T		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	637						integral component of membrane (GO:0016021)		p.T637T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACACGGAGCAGGTATTGTCCA	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	73.0	70.0					1																	154995893		2202	4299	6501	SO:0001819	synonymous_variant	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1911C>T	1.37:g.154995893G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	CCDS1082.2																																																																																				0.602	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3		NM_144622	
FAM135B	51059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	139190851	139190851	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr8:139190851G>T	ENST00000395297.1	-	10	1126	c.956C>A	c.(955-957)aCc>aAc	p.T319N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	319								p.T319N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGAACTGGGTCCACAGAGT	0.532										HNSCC(54;0.14)																																							2	Substitution - Missense(2)	kidney(2)											134.0	134.0	134.0					8																	139190851		2050	4203	6253	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.956C>A	8.37:g.139190851G>T	ENSP00000378710:p.Thr319Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027113	0.35797	.	.	ENSG00000147724	ENST00000395297	T	0.79033	-1.23	5.26	5.26	0.73747	.	0.119478	0.56097	D	0.000024	D	0.82664	0.5086	L	0.60455	1.87	0.38425	D	0.946287	D	0.71674	0.998	D	0.67900	0.954	T	0.79174	-0.1912	10	0.15066	T	0.55	-22.2067	12.466	0.55759	0.0:0.1687:0.8313:0.0	.	319	Q49AJ0	F135B_HUMAN	N	319	ENSP00000378710:T319N	ENSP00000276737:T319N	T	-	2	0	FAM135B	139260033	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	5.860000	0.69546	2.616000	0.88540	0.561000	0.74099	ACC		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912	
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150945790	150945790	+	Silent	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr5:150945790T>C	ENST00000261800.5	-	1	2715	c.2703A>G	c.(2701-2703)aaA>aaG	p.K901K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	901	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K901K(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTGGCCTTTGCTGGGCT	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	75.0	77.0					5																	150945790		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2703A>G	5.37:g.150945790T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.542	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447	
GON4L	54856	broad.mit.edu;hgsc.bcm.edu	37	1	155721637	155721637	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:155721637G>C	ENST00000368331.1	-	31	6545	c.6497C>G	c.(6496-6498)aCc>aGc	p.T2166S	GON4L_ENST00000437809.1_Missense_Mutation_p.T2165S|GON4L_ENST00000271883.5_Missense_Mutation_p.T2165S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2166	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T2166S(1)|p.T2165S(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGGCACATGGTGAGGATCAC	0.537																																																	2	Substitution - Missense(2)	kidney(2)											55.0	51.0	52.0					1																	155721637		1981	4159	6140	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6497C>G	1.37:g.155721637G>C	ENSP00000357315:p.Thr2166Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	26.9	4.777593	0.90195	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.11277	2.79;2.79;2.79	4.97	4.97	0.65823	SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);MYB-like (1);	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	L	0.51422	1.61	0.51482	D	0.999929	D;D	0.71674	0.997;0.998	D;D	0.76071	0.97;0.987	T	0.00677	-1.1614	10	0.62326	D	0.03	.	18.0848	0.89454	0.0:0.0:1.0:0.0	.	2166;2165	Q3T8J9;Q3T8J9-3	GON4L_HUMAN;.	S	2165;2166;2165	ENSP00000396117:T2165S;ENSP00000357315:T2166S;ENSP00000271883:T2165S	ENSP00000271883:T2165S	T	-	2	0	GON4L	153988261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.235000	0.78143	2.602000	0.87976	0.644000	0.83932	ACC		0.537	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292	
GTF3C1	2975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27497454	27497454	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr16:27497454C>A	ENST00000356183.4	-	24	3737	c.3722G>T	c.(3721-3723)aGc>aTc	p.S1241I	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1241I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1241					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.S1241I(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGCCTTTTGCTTTTTTCTCC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											185.0	178.0	181.0					16																	27497454		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3722G>T	16.37:g.27497454C>A	ENSP00000348510:p.Ser1241Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115989	0.37339	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24538	1.85	5.27	-3.82	0.04281	.	0.444420	0.27932	N	0.017262	T	0.14874	0.0359	L	0.40543	1.245	0.19300	N	0.999979	B;B	0.15141	0.004;0.012	B;B	0.14578	0.007;0.011	T	0.11036	-1.0604	10	0.37606	T	0.19	-2.3769	5.9434	0.19205	0.0:0.2894:0.3494:0.3612	.	1241;1241	Q12789;Q12789-3	TF3C1_HUMAN;.	I	1241;1237	ENSP00000348510:S1241I	ENSP00000348510:S1241I	S	-	2	0	GTF3C1	27404955	0.005000	0.15991	0.001000	0.08648	0.933000	0.57130	-1.029000	0.03585	-0.632000	0.05553	0.462000	0.41574	AGC		0.567	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1		NM_001520	
INSC	387755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	15170770	15170770	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:15170770G>A	ENST00000379554.3	+	2	237	c.191G>A	c.(190-192)gGt>gAt	p.G64D	INSC_ENST00000528567.1_Missense_Mutation_p.G17D|INSC_ENST00000379556.3_Missense_Mutation_p.G17D|INSC_ENST00000525218.1_Missense_Mutation_p.G17D|INSC_ENST00000530161.1_Missense_Mutation_p.G17D|INSC_ENST00000424273.1_Missense_Mutation_p.G17D	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	64					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.G64D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGCCGGGTCAGCGGTAA	0.617																																																	1	Substitution - Missense(1)	kidney(1)											43.0	43.0	43.0					11																	15170770		2200	4294	6494	SO:0001583	missense	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.191G>A	11.37:g.15170770G>A	ENSP00000368872:p.Gly64Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	6.767	0.510385	0.12883	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.31769	1.5;1.51;1.5;1.48;1.51;1.5	4.99	4.06	0.47325	.	0.313767	0.29410	N	0.012229	T	0.25082	0.0609	N	0.22421	0.69	0.25398	N	0.98847	B;B;B;B	0.25904	0.078;0.042;0.137;0.009	B;B;B;B	0.38500	0.079;0.275;0.093;0.01	T	0.24693	-1.0153	10	0.40728	T	0.16	-14.5039	8.33	0.32180	0.1079:0.0:0.8921:0.0	.	17;17;17;64	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	D	64;17;17;17;17;17;17	ENSP00000368872:G64D;ENSP00000368874:G17D;ENSP00000389161:G17D;ENSP00000435022:G17D;ENSP00000436194:G17D;ENSP00000436113:G17D	ENSP00000368872:G64D	G	+	2	0	INSC	15127346	0.995000	0.38212	0.584000	0.28653	0.393000	0.30537	1.899000	0.39818	1.299000	0.44798	0.561000	0.74099	GGT		0.617	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1		NM_001031853	
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu	37	11	122930668	122930668	+	Silent	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:122930668A>G	ENST00000532636.1	-	5	752	c.633T>C	c.(631-633)acT>acC	p.T211T	SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000453788.2_Silent_p.T211T|HSPA8_ENST00000526110.1_Silent_p.T192T|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534319.1_5'UTR|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000227378.3_Silent_p.T211T|HSPA8_ENST00000534624.1_Silent_p.T211T|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	211	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.T211T(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CATCCTCAATAGTGAGGATTG	0.428																																					Colon(21;486 594 5900 6733 14272)												1	Substitution - coding silent(1)	kidney(1)											40.0	42.0	41.0					11																	122930668		2202	4299	6501	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.633T>C	11.37:g.122930668A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																				0.428	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			
KDM3B	51780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137708520	137708520	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr5:137708520G>T	ENST00000314358.5	+	2	550	c.350G>T	c.(349-351)tGg>tTg	p.W117L		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	117					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.W117L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATTGCACAATGGCCAGCCCTG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											57.0	55.0	56.0					5																	137708520		2203	4300	6503	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.350G>T	5.37:g.137708520G>T	ENSP00000326563:p.Trp117Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417639	0.83449	.	.	ENSG00000120733	ENST00000314358	T	0.68331	-0.32	4.96	4.96	0.65561	.	0.180678	0.52532	D	0.000068	T	0.81148	0.4762	M	0.73217	2.22	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.82699	-0.0328	10	0.62326	D	0.03	-14.0823	18.3858	0.90466	0.0:0.0:1.0:0.0	.	117	Q7LBC6	KDM3B_HUMAN	L	117	ENSP00000326563:W117L	ENSP00000326563:W117L	W	+	2	0	KDM3B	137736419	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.167000	0.64972	2.582000	0.87167	0.563000	0.77884	TGG		0.502	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		NM_016604	
KPNA1	3836	broad.mit.edu;ucsc.edu	37	3	122160886	122160886	+	Splice_Site	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:122160886T>C	ENST00000344337.6	-	10	1171	c.995A>G	c.(994-996)cAg>cGg	p.Q332R	KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	332	Binding to RAG1.|NLS binding site (minor). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.Q332R(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCTTCATACCTGTGTCTGAAT	0.333																																					Melanoma(12;340 801 11196 19797)												1	Substitution - Missense(1)	kidney(1)											186.0	196.0	193.0					3																	122160886		2203	4300	6503	SO:0001630	splice_region_variant	3836			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.996+1A>G	3.37:g.122160886T>C		Somatic		WXS	Illumina GAIIx	Phase_I	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.935013	0.92458	.	.	ENSG00000114030	ENST00000344337	T	0.70516	-0.49	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89121	0.6625	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92550	0.6049	10	0.87932	D	0	-8.3517	14.3589	0.66757	0.0:0.0:0.0:1.0	.	332	P52294	IMA1_HUMAN	R	332	ENSP00000343701:Q332R	ENSP00000343701:Q332R	Q	-	2	0	KPNA1	123643576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.841000	0.86834	2.175000	0.68902	0.533000	0.62120	CAG		0.333	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1		NM_002264	Missense_Mutation
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6966196	6966196	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr18:6966196T>A	ENST00000389658.3	-	49	7093	c.7000A>T	c.(7000-7002)Aat>Tat	p.N2334Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2334	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.N2334Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAAAAGGTATTAAAAAGCATG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											85.0	69.0	74.0					18																	6966196		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7000A>T	18.37:g.6966196T>A	ENSP00000374309:p.Asn2334Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238455	0.39598	.	.	ENSG00000101680	ENST00000389658	T	0.79141	-1.24	5.8	5.8	0.92144	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.419743	0.27429	N	0.019419	T	0.68063	0.2960	N	0.19112	0.55	0.24501	N	0.994255	P	0.39071	0.658	B	0.41691	0.364	T	0.66842	-0.5821	10	0.87932	D	0	.	12.0649	0.53581	0.0:0.0:0.1435:0.8564	.	2334	P25391	LAMA1_HUMAN	Y	2334	ENSP00000374309:N2334Y	ENSP00000374309:N2334Y	N	-	1	0	LAMA1	6956196	1.000000	0.71417	0.096000	0.21009	0.021000	0.10359	5.330000	0.65899	2.227000	0.72691	0.460000	0.39030	AAT		0.473	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559	
LCE1E	353135	hgsc.bcm.edu	37	1	152760113	152760115	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	ACT	ACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:152760113_152760115delACT	ENST00000368770.3	+	2	391_393	c.338_340delACT	c.(337-342)cactct>cct	p.113_114HS>P	LCE1E_ENST00000368771.1_In_Frame_Del_p.113_114HS>P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	113	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCGGCCAGCACTCTGGAGGCTG	0.601																																																	0																																										SO:0001651	inframe_deletion	353135			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.338_340delACT	1.37:g.152760113_152760115delACT	ENSP00000357759:p.His113_Ser114delinsPro	Somatic		WXS	Illumina HiSeq	Phase_I	D3DV30	In_Frame_Del	DEL	ENST00000368770.3	37	CCDS1024.1																																																																																				0.601	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1		NM_178353	
MAK	4117	hgsc.bcm.edu	37	6	10796273	10796274	+	Frame_Shift_Ins	INS	-	-	G	rs141174473		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:10796273_10796274insG	ENST00000313243.2	-	9	1482_1483	c.1100_1101insC	c.(1099-1101)ccgfs	p.P367fs	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_3'UTR|MAK_ENST00000474039.1_Frame_Shift_Ins_p.P367fs|MAK_ENST00000538030.1_Frame_Shift_Ins_p.P367fs|MAK_ENST00000354489.2_Frame_Shift_Ins_p.P367fs			P20794	MAK_HUMAN	male germ cell-associated kinase	367	Glu/Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCGTTTGTGGCGGTTTCTCCTG	0.5																																																	0																																										SO:0001589	frameshift_variant	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1101dupC	6.37:g.10796275_10796275dupG	ENSP00000313021:p.Pro367fs	Somatic		WXS	Illumina HiSeq	Phase_I	F1T0K6|G1FL29|Q547D0|Q9NUH7	Frame_Shift_Ins	INS	ENST00000313243.2	37	CCDS4516.1																																																																																				0.500	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1		NM_005906	
ME1	4199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	83963360	83963360	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:83963360C>T	ENST00000369705.3	-	7	918	c.802G>A	c.(802-804)Gat>Aat	p.D268N	ME1_ENST00000543031.1_Missense_Mutation_p.D193N|ME1_ENST00000541327.1_Missense_Mutation_p.D102N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	268					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.D268N(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TGAATATCATCATTGAATGTG	0.303																																																	1	Substitution - Missense(1)	kidney(1)											151.0	134.0	139.0					6																	83963360		2203	4299	6502	SO:0001583	missense	4199			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.802G>A	6.37:g.83963360C>T	ENSP00000358719:p.Asp268Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274162	0.95459	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.55413	0.52;0.52;0.52	5.53	5.53	0.82687	Malic enzyme, conserved site (1);Malic enzyme, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91956	0.5575	10	0.87932	D	0	-23.913	18.2288	0.89927	0.0:1.0:0.0:0.0	.	268	P48163	MAOX_HUMAN	N	268;102;193	ENSP00000358719:D268N;ENSP00000439912:D102N;ENSP00000446114:D193N	ENSP00000358719:D268N	D	-	1	0	ME1	84020079	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.777000	0.85628	2.602000	0.87976	0.460000	0.39030	GAT		0.303	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			
ME2	4200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	48439249	48439249	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr18:48439249A>C	ENST00000321341.5	+	4	593	c.321A>C	c.(319-321)ttA>ttC	p.L107F	ME2_ENST00000382927.3_Missense_Mutation_p.L107F	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	107					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.L107F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTGAGAGTTTAATGCCAATTG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											136.0	136.0	136.0					18																	48439249		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.321A>C	18.37:g.48439249A>C	ENSP00000321070:p.Leu107Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	9.061	0.994426	0.19043	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.31510	1.49;1.49	5.58	-8.65	0.00870	Malic enzyme, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.11965	0.0291	N	0.17248	0.465	0.54753	D	0.999982	B;B	0.21753	0.005;0.06	B;B	0.32149	0.098;0.141	T	0.20739	-1.0266	10	0.19147	T	0.46	-14.5703	4.3113	0.10972	0.2557:0.2172:0.43:0.0972	.	107;107	Q9BWL6;P23368	.;MAOM_HUMAN	F	107	ENSP00000321070:L107F;ENSP00000372384:L107F	ENSP00000321070:L107F	L	+	3	2	ME2	46693247	0.008000	0.16893	0.604000	0.28916	0.722000	0.41435	-0.748000	0.04818	-1.732000	0.01359	-0.912000	0.02778	TTA		0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1		NM_002396	
MKS1	54903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56285343	56285343	+	Silent	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:56285343A>G	ENST00000393119.2	-	14	1259	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	MKS1_ENST00000546108.1_Silent_p.P192P|MKS1_ENST00000313863.6_Silent_p.P395P|MKS1_ENST00000537529.2_Silent_p.P385P|MKS1_ENST00000337050.7_Silent_p.P395P	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	395	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.P395P(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGTAGAGCACAGGCCACTCCG	0.622																																																	2	Substitution - coding silent(2)	kidney(2)											48.0	57.0	54.0					17																	56285343		2119	4230	6349	SO:0001819	synonymous_variant	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1185T>C	17.37:g.56285343A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	A	9.728	1.161497	0.21538	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.58	-0.594	0.11664	.	.	.	.	.	T	0.43853	0.1266	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-15.4908	4.1824	0.10381	0.3582:0.0:0.3687:0.273	.	.	.	.	P	396	.	.	L	-	2	0	MKS1	53640342	0.328000	0.24687	0.997000	0.53966	0.903000	0.53119	-0.259000	0.08721	-0.176000	0.10707	-0.509000	0.04479	CTG		0.622	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2		NM_017777	
MS4A3	932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	59837676	59837676	+	Splice_Site	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:59837676G>A	ENST00000278865.3	+	7	688		c.e7-1		MS4A3_ENST00000534744.1_Splice_Site|MS4A3_ENST00000358152.2_Splice_Site|MS4A3_ENST00000395032.2_Splice_Site	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.?(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TTATTTTCTAGGAAATTTCCT	0.363																																																	1	Unknown(1)	kidney(1)											211.0	184.0	193.0					11																	59837676		2200	4294	6494	SO:0001630	splice_region_variant	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.616-1G>A	11.37:g.59837676G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MTP8|Q8NHW2	Splice_Site	SNP	ENST00000278865.3	37	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	6.670	0.492250	0.12702	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	.	.	.	3.41	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.32750	N	0.5065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5377	0.22363	0.1333:0.0:0.8667:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MS4A3	59594252	0.844000	0.29557	0.140000	0.22221	0.066000	0.16364	1.987000	0.40687	1.016000	0.39470	0.643000	0.83706	.		0.363	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			Intron
MYH15	22989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108205348	108205348	+	Silent	SNP	G	G	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:108205348G>C	ENST00000273353.3	-	11	1013	c.957C>G	c.(955-957)ccC>ccG	p.P319P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	319	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P319P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGAAGTCTGAGGGATTTGCAG	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	84.0	84.0					3																	108205348		1882	4112	5994	SO:0001819	synonymous_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.957C>G	3.37:g.108205348G>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000273353.3	37	CCDS43127.1																																																																																				0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988	
NAA60	79903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3533548	3533549	+	Missense_Mutation	DNP	TT	TT	CA			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr16:3533548_3533549TT>CA	ENST00000407558.4	+	6	826_827	c.523_524TT>CA	c.(523-525)TTc>CAc	p.F175H	NAA60_ENST00000421765.3_Intron|NAA60_ENST00000608993.1_Missense_Mutation_p.F110H|NAA60_ENST00000573580.1_Missense_Mutation_p.F110H|NAA60_ENST00000608722.1_Missense_Mutation_p.F175H|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000570819.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000610180.1_Missense_Mutation_p.F175H|NAA60_ENST00000572584.1_Missense_Mutation_p.F175H|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.F175H|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000360862.5_Missense_Mutation_p.F110H|NAA60_ENST00000424546.2_Missense_Mutation_p.F182H|NAA60_ENST00000575076.1_Missense_Mutation_p.F175H			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	175	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)	p.F175>?(1)|p.F175L(1)|p.F175Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CAAAGATGGCTTCACCTATGTC	0.49																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	0				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	Exception_encountered	16.37:g.3533548_3533549delinsCA	ENSP00000385903:p.Phe175His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	CCDS45396.1																																																																																				0.490	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2		NM_024845	
NGLY1	55768	broad.mit.edu;hgsc.bcm.edu	37	3	25824816	25824816	+	Silent	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:25824816C>T	ENST00000280700.5	-	1	226	c.66G>A	c.(64-66)caG>caA	p.Q22Q	NGLY1_ENST00000417874.2_Intron|NGLY1_ENST00000428257.1_Silent_p.Q22Q|NGLY1_ENST00000396649.3_Silent_p.Q22Q	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	22					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.Q22Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CCGGGGTGTTCTGGCAGAGCT	0.706																																																	1	Substitution - coding silent(1)	kidney(1)											21.0	19.0	20.0					3																	25824816		2202	4300	6502	SO:0001819	synonymous_variant	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.66G>A	3.37:g.25824816C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Silent	SNP	ENST00000280700.5	37	CCDS33719.1																																																																																				0.706	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			
NRSN1	140767	hgsc.bcm.edu;ucsc.edu	37	6	24145877	24145877	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:24145877delT	ENST00000378491.4	+	4	592	c.291delT	c.(289-291)gatfs	p.D97fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCGAAGCCGATTTTGTGGTGG	0.507																																																	0													103.0	94.0	97.0					6																	24145877		2203	4300	6503	SO:0001589	frameshift_variant	140767			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.291delT	6.37:g.24145877delT	ENSP00000367752:p.Asp97fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000378491.4	37	CCDS4549.1																																																																																				0.507	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1		NM_080723	
PAPPA2	60676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	176659299	176659299	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:176659299T>C	ENST00000367662.3	+	5	3328	c.2164T>C	c.(2164-2166)Tat>Cat	p.Y722H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.Y722H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	722	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y722H(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGCATATTATGGGATGCC	0.443																																																	2	Substitution - Missense(2)	kidney(2)											108.0	102.0	104.0					1																	176659299		2060	4239	6299	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2164T>C	1.37:g.176659299T>C	ENSP00000356634:p.Tyr722His	Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286594	0.59867	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.80738	-1.41;1.41	5.23	5.23	0.72850	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.124325	0.56097	D	0.000025	D	0.88662	0.6497	M	0.71296	2.17	0.47123	D	0.999326	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.89775	0.3957	10	0.66056	D	0.02	-19.9974	14.7777	0.69743	0.0:0.0:0.0:1.0	.	722;722	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	722	ENSP00000356634:Y722H;ENSP00000356633:Y722H	ENSP00000356633:Y722H	Y	+	1	0	PAPPA2	174925922	1.000000	0.71417	0.980000	0.43619	0.107000	0.19398	7.927000	0.87577	1.963000	0.57068	0.460000	0.39030	TAT		0.443	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52597379	52597379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:52597379delC	ENST00000296302.7	-	24	4007	c.4006delG	c.(4006-4008)gtcfs	p.V1336fs	PBRM1_ENST00000410007.1_Frame_Shift_Del_p.V1311fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.V1351fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.V1336fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.V1336fs|PBRM1_ENST00000394830.3_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.V1304fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.V1351fs|RNU6ATAC16P_ENST00000408591.1_RNA			Q86U86	PB1_HUMAN	polybromo 1	1336					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGTTCAATGACCTCACTATCT	0.498			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													156.0	132.0	140.0					3																	52597379		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4006delG	3.37:g.52597379delC	ENSP00000296302:p.Val1336fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.498	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCK1	5105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	56138150	56138150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr20:56138150delG	ENST00000319441.4	+	5	841	c.677delG	c.(676-678)agafs	p.R226fs	PCK1_ENST00000535860.1_Frame_Shift_Del_p.R94fs|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	226					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGACCGCAGAGAGATCATC	0.622																																																	0													75.0	77.0	76.0					20																	56138150		2203	4300	6503	SO:0001589	frameshift_variant	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.677delG	20.37:g.56138150delG	ENSP00000319814:p.Arg226fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K437|B4DT64|Q8TCA3|Q9UJD2	Frame_Shift_Del	DEL	ENST00000319441.4	37	CCDS13460.1																																																																																				0.622	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			
PML	5371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74336686	74336686	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr15:74336686C>G	ENST00000268058.3	+	9	2082	c.1986C>G	c.(1984-1986)ttC>ttG	p.F662L	PML_ENST00000565898.1_Missense_Mutation_p.F614L	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	662					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F662L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCAGCACTTCCTCAGCTTTC	0.602			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	1	Substitution - Missense(1)	kidney(1)											67.0	64.0	65.0					15																	74336686		2198	4297	6495	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1986C>G	15.37:g.74336686C>G	ENSP00000268058:p.Phe662Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219280	0.39201	.	.	ENSG00000140464	ENST00000268058;ENST00000417341	T	0.60299	0.2	5.31	4.4	0.53042	.	0.229124	0.31358	N	0.007788	T	0.44435	0.1293	N	0.24115	0.695	0.80722	D	1	P;P	0.46142	0.615;0.873	B;P	0.45639	0.142;0.488	T	0.34527	-0.9825	10	0.37606	T	0.19	-27.9476	7.2745	0.26275	0.0:0.7405:0.1706:0.0888	.	662;614	P29590;P29590-11	PML_HUMAN;.	L	662;223	ENSP00000268058:F662L	ENSP00000268058:F662L	F	+	3	2	PML	72123739	0.992000	0.36948	0.983000	0.44433	0.912000	0.54170	0.889000	0.28282	1.470000	0.48102	0.655000	0.94253	TTC		0.602	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3		NM_002675	
RPL10A	4736	hgsc.bcm.edu	37	6	35437244	35437247	+	Frame_Shift_Del	DEL	CCCA	CCCA	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	CCCA	CCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:35437244_35437247delCCCA	ENST00000322203.6	+	4	275_278	c.248_251delCCCA	c.(247-252)ccccacfs	p.PH83fs	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	83					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						GTGGATATCCCCCACATGGACATC	0.544																																																	0																																										SO:0001589	frameshift_variant	4736			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.248_251delCCCA	6.37:g.35437244_35437247delCCCA	ENSP00000363018:p.Pro83fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R801|P52859|P53025|Q5TZT6|Q8J013	Frame_Shift_Del	DEL	ENST00000322203.6	37	CCDS4806.1																																																																																				0.544	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1		NM_007104	
SERINC2	347735	hgsc.bcm.edu	37	1	31902299	31902300	+	Frame_Shift_Ins	INS	-	-	G	rs371191938		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:31902299_31902300insG	ENST00000373709.3	+	8	1077_1078	c.927_928insG	c.(928-930)ggcfs	p.G310fs	SERINC2_ENST00000491976.1_3'UTR|AC114494.1_ENST00000596131.1_Frame_Shift_Ins_p.C106fs|SERINC2_ENST00000536859.1_Frame_Shift_Ins_p.G314fs|SERINC2_ENST00000536384.1_Frame_Shift_Ins_p.G314fs|SERINC2_ENST00000373710.1_Frame_Shift_Ins_p.G319fs	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	310					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CAGTTGTGGCAGGCCCCGAGGG	0.599																																																	0																																										SO:0001589	frameshift_variant	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.929dupG	1.37:g.31902301_31902301dupG	ENSP00000362813:p.Gly310fs	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Frame_Shift_Ins	INS	ENST00000373709.3	37	CCDS30662.1																																																																																				0.599	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1		NM_018565	
SMCR8	140775	broad.mit.edu;ucsc.edu	37	17	18219186	18219186	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:18219186A>G	ENST00000406438.3	+	1	563	c.83A>G	c.(82-84)gAg>gGg	p.E28G	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	28						nucleus (GO:0005634)		p.E28G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCCCTGCCTGAGGAGTACTCG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											86.0	88.0	88.0					17																	18219186		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.83A>G	17.37:g.18219186A>G	ENSP00000385025:p.Glu28Gly	Somatic		WXS	Illumina GAIIx	Phase_I	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150562	0.78001	.	.	ENSG00000176994	ENST00000406438	T	0.27890	1.64	6.11	6.11	0.99139	.	0.162074	0.53938	D	0.000052	T	0.43831	0.1265	L	0.29908	0.895	0.58432	D	0.999996	D	0.76494	0.999	D	0.67548	0.952	T	0.26224	-1.0109	10	0.45353	T	0.12	-25.586	16.7021	0.85357	1.0:0.0:0.0:0.0	.	28	Q8TEV9	SMCR8_HUMAN	G	28	ENSP00000385025:E28G	ENSP00000385025:E28G	E	+	2	0	SMCR8	18159911	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	8.706000	0.91362	2.343000	0.79666	0.533000	0.62120	GAG		0.527	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2		NM_144775	
TBCC	6903	broad.mit.edu;hgsc.bcm.edu	37	6	42713803	42713803	+	Silent	SNP	G	G	A	rs537953279		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:42713803G>A	ENST00000372876.1	-	1	31	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TBCC_ENST00000244625.2_Silent_p.S3S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	3					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.S3S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		12523	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											41.0	42.0	41.0					6																	42713803		2202	4299	6501	SO:0001819	synonymous_variant	6903			U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.9C>T	6.37:g.42713803G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	CCDS4872.1																																																																																				0.617	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1		NM_003192	
TMEM181	57583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	159029391	159029391	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:159029391G>A	ENST00000367090.3	+	9	1122	c.1111G>A	c.(1111-1113)Gtc>Atc	p.V371I		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	371					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.V371I(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CTCCTTCCTGGTCAACAGCTG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											110.0	110.0	110.0					6																	159029391		2126	4240	6366	SO:0001583	missense	57583			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1111G>A	6.37:g.159029391G>A	ENSP00000356057:p.Val371Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033669	0.75504	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.44482	0.92	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.45137	1.4	0.80722	D	1	P	0.35383	0.498	B	0.28709	0.093	T	0.04360	-1.0957	10	0.33141	T	0.24	.	12.1041	0.53803	0.0833:0.0:0.9167:0.0	.	371	Q9P2C4	TM181_HUMAN	I	278;371	ENSP00000356057:V371I	ENSP00000323755:V278I	V	+	1	0	TMEM181	158949379	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.758000	0.68776	2.577000	0.86979	0.650000	0.86243	GTC		0.577	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1		NM_020823	
AGMO	392636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	15405181	15405181	+	Frame_Shift_Del	DEL	A	A	-	rs76463825	byFrequency	TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:15405181delA	ENST00000342526.3	-	12	1390	c.1221delT	c.(1219-1221)ggtfs	p.G407fs		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	407					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GCTTCAGGTGACCAAATCGGT	0.393																																																	0													115.0	104.0	108.0					7																	15405181		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1221delT	7.37:g.15405181delA	ENSP00000341662:p.Gly407fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D114|A6NCH5	Frame_Shift_Del	DEL	ENST00000342526.3	37	CCDS34604.1																																																																																				0.393	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2		NM_001004320	
TRPV6	55503	broad.mit.edu;ucsc.edu	37	7	142572835	142572835	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:142572835A>G	ENST00000359396.3	-	9	1450	c.1205T>C	c.(1204-1206)gTa>gCa	p.V402A	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	402					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.V402A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCTCACCTCTACCAGCAGGAT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											141.0	128.0	133.0					7																	142572835		2203	4300	6503	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1205T>C	7.37:g.142572835A>G	ENSP00000352358:p.Val402Ala	Somatic		WXS	Illumina GAIIx	Phase_I	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614658	0.28712	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85484	-1.99;-1.99	4.74	3.47	0.39725	.	0.639808	0.15421	N	0.263224	T	0.64057	0.2564	N	0.03608	-0.345	0.19775	N	0.999952	B	0.02656	0.0	B	0.08055	0.003	T	0.48980	-0.8986	10	0.09590	T	0.72	-0.9255	8.6178	0.33842	0.8934:0.0:0.1066:0.0	.	402	Q9H1D0	TRPV6_HUMAN	A	402;234;25	ENSP00000352358:V402A;ENSP00000411100:V25A	ENSP00000310825:V234A	V	-	2	0	TRPV6	142282957	0.550000	0.26489	0.039000	0.18376	0.822000	0.46500	5.500000	0.66943	0.804000	0.34136	0.459000	0.35465	GTA		0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1		NM_014274	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179593688	179593688	+	Silent	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr2:179593688A>G	ENST00000591111.1	-	63	18350	c.18126T>C	c.(18124-18126)agT>agC	p.S6042S	TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.S6359S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S5115S			Q8WZ42	TITIN_HUMAN	titin	12833	Ig-like 41.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S5115S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATATCTCCCACTGTGTCCAT	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	65.0	67.0					2																	179593688		1918	4139	6057	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18126T>C	2.37:g.179593688A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBR4	23352	broad.mit.edu;hgsc.bcm.edu	37	1	19505691	19505691	+	Silent	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:19505691T>C	ENST00000375254.3	-	18	2235	c.2208A>G	c.(2206-2208)ggA>ggG	p.G736G	UBR4_ENST00000375226.2_Silent_p.G736G|UBR4_ENST00000375217.2_Silent_p.G736G|UBR4_ENST00000375267.2_Silent_p.G736G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	736					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G736G(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGGAGCCACTCCTAGCTGCT	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											66.0	64.0	65.0					1																	19505691		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2208A>G	1.37:g.19505691T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.473	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765	
WT1	7490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32421532	32421532	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:32421532A>T	ENST00000379079.2	-	6	697	c.424T>A	c.(424-426)Tac>Aac	p.Y142N	WT1_ENST00000448076.3_Missense_Mutation_p.Y354N|WT1_ENST00000332351.3_Missense_Mutation_p.Y354N|WT1_ENST00000530998.1_Missense_Mutation_p.Y125N	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	286					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Y142D(1)|p.Y142N(1)|p.Y286D(1)|p.Y286N(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGTATTCTGTATTGGGCTCCG	0.577			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	4	Substitution - Missense(4)	lung(2)|kidney(2)											283.0	235.0	252.0					11																	32421532		2202	4299	6501	SO:0001583	missense	7490	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.424T>A	11.37:g.32421532A>T	ENSP00000368370:p.Tyr142Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.84|18.84	3.708376|3.708376	0.68615|0.68615	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	.|D;D;D;D;D;D	.|0.89810	.|-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Wilm&apos (1);s tumour protein, N-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000008	D|D	0.93337|0.93337	0.7876|0.7876	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;0.999	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;0.999;0.999	D|D	0.93801|0.93801	0.7101|0.7101	5|10	.|0.72032	.|D	.|0.01	.|.	16.4781|16.4781	0.84144|0.84144	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|342;286;359;125;142	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	K|N	44|142;354;125;337;354;105	.|ENSP00000368370:Y142N;ENSP00000331327:Y354N;ENSP00000435307:Y125N;ENSP00000415516:Y337N;ENSP00000413452:Y354N;ENSP00000435351:Y105N	.|ENSP00000331327:Y354N	I|Y	-|-	2|1	0|0	WT1|WT1	32378108|32378108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.113000|0.113000	0.19764|0.19764	8.495000|8.495000	0.90481|0.90481	2.288000|2.288000	0.76882|0.76882	0.528000|0.528000	0.53228|0.53228	ATA|TAC		0.577	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1		NM_000378	
ZFP91	80829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	58384897	58384897	+	Silent	SNP	C	C	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:58384897C>A	ENST00000316059.6	+	11	1602	c.1431C>A	c.(1429-1431)ggC>ggA	p.G477G	ZFP91-CNTF_ENST00000389919.4_Silent_p.G477G	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	477					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.G477G(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATATCTTGGGCACTAACCCAG	0.557																																																	2	Substitution - coding silent(2)	kidney(2)											63.0	58.0	60.0					11																	58384897		2201	4295	6496	SO:0001819	synonymous_variant	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1431C>A	11.37:g.58384897C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	ENST00000316059.6	37	CCDS31553.1																																																																																				0.557	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1		NM_053023	
ZNF679	168417	broad.mit.edu;ucsc.edu	37	7	63726378	63726378	+	Missense_Mutation	SNP	T	T	A	rs371012818		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:63726378T>A	ENST00000421025.1	+	5	636	c.367T>A	c.(367-369)Tta>Ata	p.L123I	ZNF679_ENST00000255746.4_Missense_Mutation_p.L123I	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L123I(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACATGACAATTTACAAGTAAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											167.0	146.0	152.0					7																	63726378		692	1591	2283	SO:0001583	missense	168417			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.367T>A	7.37:g.63726378T>A	ENSP00000416809:p.Leu123Ile	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000421025.1	37	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.780034	0.31502	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.06371	3.31;3.31	0.819	-0.517	0.11947	.	.	.	.	.	T	0.17109	0.0411	M	0.73598	2.24	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.12344	-1.0551	9	0.62326	D	0.03	.	2.6224	0.04920	0.0:0.4716:0.0:0.5284	.	123	Q8IYX0	ZN679_HUMAN	I	123	ENSP00000416809:L123I;ENSP00000255746:L123I	ENSP00000255746:L123I	L	+	1	2	ZNF679	63363813	0.001000	0.12720	0.039000	0.18376	0.039000	0.13416	-0.411000	0.07142	0.165000	0.19558	0.163000	0.16589	TTA		0.368	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2		NM_153363	
ZNF425	155054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148801994	148801994	+	Silent	SNP	C	C	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:148801994C>G	ENST00000378061.2	-	4	1101	c.969G>C	c.(967-969)ctG>ctC	p.L323L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	323					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L323L(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCCGCTGTGCAGCCGCAAGT	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											37.0	35.0	35.0					7																	148801994		2203	4300	6503	SO:0001819	synonymous_variant	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.969G>C	7.37:g.148801994C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	CCDS34773.1																																																																																				0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		XM_088140	
ZNF773	374928	broad.mit.edu;hgsc.bcm.edu	37	19	58018037	58018037	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr19:58018037A>T	ENST00000282292.4	+	4	714	c.574A>T	c.(574-576)Aaa>Taa	p.K192*	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Nonsense_Mutation_p.K191*	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K192*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AAGGCATTACAAATGCAGTGA	0.473																																																	1	Substitution - Nonsense(1)	kidney(1)											49.0	49.0	49.0					19																	58018037		2203	4297	6500	SO:0001587	stop_gained	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.574A>T	19.37:g.58018037A>T	ENSP00000282292:p.Lys192*	Somatic		WXS	Illumina HiSeq	Phase_I	Q96DL8	Nonsense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889719	0.52014	.	.	ENSG00000152439	ENST00000282292	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	5.3139	0.15845	0.706:0.294:0.0:0.0	.	.	.	.	X	192	.	ENSP00000282292:K192X	K	+	1	0	ZNF773	62709849	0.000000	0.05858	0.005000	0.12908	0.636000	0.38137	-2.491000	0.00974	0.824000	0.34613	0.260000	0.18958	AAA		0.473	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1		NM_198542	
ZNFX1	57169	hgsc.bcm.edu;ucsc.edu	37	20	47864087	47864093	+	Frame_Shift_Del	DEL	AGGCCAG	AGGCCAG	-	rs368515875		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	AGGCCAG	AGGCCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr20:47864087_47864093delAGGCCAG	ENST00000396105.1	-	14	5714_5720	c.5468_5474delCTGGCCT	c.(5467-5475)tctggcctgfs	p.SGL1823fs	ZNFX1_ENST00000469991.1_5'Flank|ZNFX1_ENST00000371752.1_Frame_Shift_Del_p.SGL1823fs|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1823							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAGATGCCCAGGCCAGAGCAGGGAAG	0.493																																																	0																																										SO:0001589	frameshift_variant	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5468_5474delCTGGCCT	20.37:g.47864087_47864093delAGGCCAG	ENSP00000379412:p.Ser1823fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Frame_Shift_Del	DEL	ENST00000396105.1	37	CCDS13417.1																																																																																				0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035	
LOC441666	441666	broad.mit.edu	37	10	42832426	42832426	+	RNA	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr10:42832426T>C	ENST00000609841.1	-	0	1477					NR_024380.1																						AATTCTCTTGTGTATAGTAAG	0.373																																																	0																																												441666																															10.37:g.42832426T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000609841.1	37																																																																																					0.373	RP11-313J2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472483.1			
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006961	+	RNA	DNP	CC	CC	AT	rs199838243|rs200228350	byFrequency	TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr22:23006960_23006961CC>AT	ENST00000385099.1	+	0	63_64																											GGGCTCTGCTCCTCCTCACCCT	0.629																																																	0																																												96610																														Exception_encountered	22.37:g.23006960_23006961delinsAT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000385099.1	37																																																																																					0.629	D86994.2-201	NOVEL	basic	miRNA	miRNA				
MAST3	23031	broad.mit.edu	37	19	18234143	18234143	+	Silent	SNP	C	C	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr19:18234143C>A	ENST00000262811.6	+	6	429	c.429C>A	c.(427-429)ggC>ggA	p.G143G	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	143							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.G165G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ATGAGGAAGGCGGCCGGTCAC	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											26.0	27.0	27.0					19																	18234143		1958	4131	6089	SO:0001819	synonymous_variant	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.429C>A	19.37:g.18234143C>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	CCDS46014.1																																																																																				0.687	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2		XM_038150	
LIMA1	51474	broad.mit.edu	37	12	50627995	50627995	+	Intron	DEL	T	T	-	rs530660438		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr12:50627995delT	ENST00000341247.4	-	3	269				MIR1293_ENST00000408677.1_RNA|LIMA1_ENST00000394943.3_Intron	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1						actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CAGAACAACCttttttttttt	0.478																																																	0													2.0	2.0	2.0					12																	50627995		1268	2822	4090	SO:0001627	intron_variant	100302220			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.120-2502A>-	12.37:g.50627995delT		Somatic		WXS	Illumina GAIIx	Phase_I	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	RNA	DEL	ENST00000341247.4	37	CCDS8802.1																																																																																				0.478	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357	
SVIL	6840	broad.mit.edu	37	10	29843732	29843732	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr10:29843732T>G	ENST00000355867.4	-	5	892	c.140A>C	c.(139-141)gAc>gCc	p.D47A	SVIL_ENST00000375400.3_Missense_Mutation_p.D47A|SVIL_ENST00000375398.2_Missense_Mutation_p.D47A	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	47	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.D47A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCTGGCAGGGTCGCTGGCTCT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											30.0	30.0	30.0					10																	29843732		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.140A>C	10.37:g.29843732T>G	ENSP00000348128:p.Asp47Ala	Somatic		WXS	Illumina GAIIx	Phase_I	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.040525	0.93630	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.53206	0.63;0.63;0.63	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68557	-0.5377	9	.	.	.	-32.1404	16.1728	0.81831	0.0:0.0:0.0:1.0	.	47;47	O95425-2;O95425	.;SVIL_HUMAN	A	47	ENSP00000364549:D47A;ENSP00000364547:D47A;ENSP00000348128:D47A	.	D	-	2	0	SVIL	29883738	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	7.063000	0.76714	2.228000	0.72767	0.533000	0.62120	GAC		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																																	0																																												440452					17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000581291.1	37																																																																																					0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1		NR_027486	
TPTE	7179	broad.mit.edu	37	21	11012923	11012923	+	5'UTR	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr21:11012923T>C	ENST00000415664.2	-	0	997							P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACCTAGCTTTTTTACTTTT	0.289																																																	0																																										SO:0001623	5_prime_UTR_variant	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.-2339A>G	21.37:g.11012923T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	RNA	SNP	ENST00000415664.2	37																																																																																					0.289	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1			
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000412938.1	37																																																																																					0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			
