#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DLG2	1740	broad.mit.edu	37	11	84028117	84028117	+	Silent	SNP	C	C	A	rs45482499		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:84028117C>A	ENST00000398301.2	-	1	265	c.72G>T	c.(70-72)gcG>gcT	p.A24A	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000280241.8_Silent_p.A24A			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCAGGGTGGGCGCACTCCTGA	0.597																																						ENST00000280241.8																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(70-72)gcG>gcT		discs, large homolog 2 (Drosophila)							235.0	216.0	222.0					11																	84028117		876	1990	2866	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84028117C>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398301.2:c.72G>T	11.37:g.84028117C>A						DLG2_ENST00000398301.2_Silent_p.A24A|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron	p.A24A	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN			1	71	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000398301.2	37	c.72G>T																																																																																					0.597	DLG2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000259244.2	NM_001364		106	157	1	0	9.16818e-52	1	1.17387e-51	106	157				
USP28	57646	broad.mit.edu	37	11	113670032	113670032	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:113670032T>C	ENST00000003302.4	-	25	3232	c.3164A>G	c.(3163-3165)tAt>tGt	p.Y1055C	USP28_ENST00000544967.1_Missense_Mutation_p.Y731C|USP28_ENST00000260188.5_Missense_Mutation_p.Y1023C|USP28_ENST00000545540.1_Missense_Mutation_p.Y898C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1055					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACATAGGTCATAGGGAGAATT	0.473																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3163-3165)tAt>tGt		ubiquitin specific peptidase 28							116.0	117.0	116.0					11																	113670032		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113670032T>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.3164A>G	11.37:g.113670032T>C	ENSP00000003302:p.Tyr1055Cys					USP28_ENST00000260188.5_Missense_Mutation_p.Y1023C|USP28_ENST00000545540.1_Missense_Mutation_p.Y898C|USP28_ENST00000544967.1_Missense_Mutation_p.Y731C	p.Y1055C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	25	3232	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	1055					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.3164A>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690118	0.68271	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.44482	1.51;1.51;0.92;1.51	5.71	4.54	0.55810	.	0.174764	0.51477	D	0.000094	T	0.50684	0.1630	L	0.36672	1.1	0.44627	D	0.997606	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.70487	0.931;0.848;0.969	T	0.52381	-0.8583	10	0.72032	D	0.01	-18.8282	10.2565	0.43401	0.2603:0.0:0.0:0.7397	.	898;1055;731	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	C	1055;1023;731;898	ENSP00000003302:Y1055C;ENSP00000260188:Y1023C;ENSP00000442431:Y731C;ENSP00000444991:Y898C	ENSP00000003302:Y1055C	Y	-	2	0	USP28	113175242	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	3.659000	0.54489	2.188000	0.69820	0.533000	0.62120	TAT		0.473	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			67	76	0	0	0	1	0	67	76				
AKR1C2	1646	broad.mit.edu	37	10	5042613	5042613	+	Intron	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr10:5042613G>A	ENST00000380753.4	-	3	557				AKR1C2_ENST00000421196.3_Intron|AKR1C2_ENST00000455190.1_Missense_Mutation_p.H137Y|AKR1C2_ENST00000407674.1_Intron	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2						cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	TAGGAGTTATGTTTAGGGCTC	0.363																																						ENST00000455190.1																			0				breast(1)|large_intestine(5)|lung(3)|skin(1)	10						c.(409-411)Cat>Tat		aldo-keto reductase family 1, member C2	NADH(DB00157)|Ursodeoxycholic acid(DB01586)						108.0	87.0	93.0					10																	5042613		692	1591	2283	SO:0001627	intron_variant	1646				digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5042613G>A	L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.369+128C>T	10.37:g.5042613G>A						AKR1C2_ENST00000380753.4_Intron|AKR1C2_ENST00000407674.1_Intron|AKR1C2_ENST00000421196.3_Intron	p.H137Y	NM_001135241.2	NP_001128713.1	P52895	AK1C2_HUMAN			4	434	-			0					A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Missense_Mutation	SNP	ENST00000380753.4	37	c.409C>T	CCDS7062.1	.	.	.	.	.	.	.	.	.	.	G	0.212	-1.035415	0.02029	.	.	ENSG00000151632	ENST00000455190	T	0.20738	2.05	0.69	-1.38	0.09027	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	8	0.02654	T	1	.	.	.	.	.	137	B4DKR9	.	Y	137	ENSP00000408440:H137Y	ENSP00000408440:H137Y	H	-	1	0	AKR1C2	5032613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.317000	0.08060	-2.268000	0.00685	-1.405000	0.01134	CAT		0.363	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046531.1	NM_001354		9	26	0	0	0	1	0	9	26				
NELL1	4745	broad.mit.edu	37	11	21556011	21556011	+	Silent	SNP	C	C	T	rs147459765	byFrequency	TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:21556011C>T	ENST00000357134.5	+	16	1889	c.1737C>T	c.(1735-1737)agC>agT	p.S579S	NELL1_ENST00000325319.5_Silent_p.S522S|NELL1_ENST00000298925.5_Silent_p.S607S|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	579	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGCAGAAGCGGTTTCCATG	0.527													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17112	0.0		0.0	False		,,,				2504	0.002					ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1819-1821)agC>agT		NEL-like 1 (chicken)		C	,	2,4404	4.2+/-10.8	0,2,2201	193.0	156.0	169.0		1737,	3.8	1.0	11	dbSNP_134	169	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	NELL1	NM_006157.3,NM_201551.1	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	579/811,	21556011	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21556011C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1737C>T	11.37:g.21556011C>T						NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000325319.5_Silent_p.S522S|NELL1_ENST00000357134.5_Silent_p.S579S	p.S607S			Q92832	NELL1_HUMAN			17	1974	+			579			EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1821C>T	CCDS7855.1																																																																																				0.527	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		46	73	0	0	0	1	0	46	73				
COL4A6	1288	broad.mit.edu	37	X	107449790	107449790	+	Silent	SNP	T	T	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:107449790T>A	ENST00000372216.4	-	9	670	c.570A>T	c.(568-570)ggA>ggT	p.G190G	COL4A6_ENST00000538570.1_Silent_p.G189G|COL4A6_ENST00000394872.2_Silent_p.G186G|COL4A6_ENST00000334504.7_Silent_p.G189G|COL4A6_ENST00000545689.1_Silent_p.G189G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	190	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTCCAGGAAATCCGGGTGCTC	0.438									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(565-567)ggA>ggT		collagen, type IV, alpha 6							133.0	115.0	121.0					X																	107449790		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107449790T>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.570A>T	X.37:g.107449790T>A						COL4A6_ENST00000545689.1_Silent_p.G189G|COL4A6_ENST00000538570.1_Silent_p.G189G|COL4A6_ENST00000394872.2_Silent_p.G186G|COL4A6_ENST00000372216.4_Silent_p.G190G	p.G189G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			9	800	-			190			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.567A>T	CCDS14541.1																																																																																				0.438	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			17	79	0	0	0	1	0	17	79				
MUC5B	727897	broad.mit.edu	37	11	1263956	1263956	+	Missense_Mutation	SNP	C	C	A	rs369656046	byFrequency	TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:1263956C>A	ENST00000529681.1	+	31	5904	c.5846C>A	c.(5845-5847)aCc>aAc	p.T1949N	MUC5B_ENST00000447027.1_Missense_Mutation_p.T1952N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1949	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACAGTCACCAGCTCCAAA	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5854-5856)aCc>aAc		mucin 5B, oligomeric mucus/gel-forming							151.0	192.0	178.0					11																	1263956		2185	4257	6442	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263956C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5846C>A	11.37:g.1263956C>A	ENSP00000436812:p.Thr1949Asn					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T1949N	p.T1952N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5913	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1949			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5855C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	7.250	0.603014	0.13939	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21543	2.0;2.16	3.14	1.18	0.20946	.	.	.	.	.	T	0.17959	0.0431	M	0.64404	1.975	0.09310	N	1	B;B	0.30281	0.275;0.275	B;B	0.20767	0.031;0.031	T	0.23691	-1.0181	9	0.87932	D	0	.	4.1721	0.10334	0.18:0.6112:0.0:0.2087	.	2642;1952	A7Y9J9;E9PBJ0	.;.	N	1949;1952;1950;2019	ENSP00000436812:T1949N;ENSP00000415793:T1952N	ENSP00000343037:T1950N	T	+	2	0	MUC5B	1220532	0.007000	0.16637	0.000000	0.03702	0.012000	0.07955	2.584000	0.46102	0.170000	0.19704	0.205000	0.17691	ACC		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		20	207	1	0	1.33834e-09	1	1.49067e-09	20	207				
SLC24A4	123041	broad.mit.edu	37	14	92922825	92922825	+	Silent	SNP	C	C	T	rs373277264		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:92922825C>T	ENST00000532405.1	+	12	1354	c.1128C>T	c.(1126-1128)aaC>aaT	p.N376N	SLC24A4_ENST00000298877.1_Silent_p.N359N|SLC24A4_ENST00000531433.1_Silent_p.N357N|SLC24A4_ENST00000351924.5_Silent_p.N340N|SLC24A4_ENST00000393265.2_Silent_p.N312N|SLC24A4_ENST00000556739.1_3'UTR			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	376					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ACATTGAGAACGGGAATGTTC	0.597											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(1126-1128)aaC>aaT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4		C	,,	1,4405	2.1+/-5.4	0,1,2202	94.0	80.0	85.0		1128,1071,936	-2.8	0.8	14		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC24A4	NM_153646.3,NM_153647.3,NM_153648.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	376/623,357/604,312/559	92922825	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92922825C>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1128C>T	14.37:g.92922825C>T			OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1293	SLC24A4_ENST00000298877.1_Silent_p.N359N|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000351924.5_Silent_p.N340N|SLC24A4_ENST00000531433.1_Silent_p.N357N|SLC24A4_ENST00000393265.2_Silent_p.N312N	p.N376N			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	12	1354	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	376					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	c.1128C>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	6.389	0.439838	0.12104	2.27E-4	1.16E-4	ENSG00000140090	ENST00000525557	.	.	.	4.81	-2.8	0.05823	.	.	.	.	.	T	0.57227	0.2039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56245	-0.8011	4	.	.	.	.	11.6399	0.51227	0.0:0.2973:0.0:0.7027	.	.	.	.	W	242	.	.	R	+	1	2	SLC24A4	91992578	0.004000	0.15560	0.794000	0.32065	0.550000	0.35303	-1.699000	0.01906	-0.418000	0.07450	0.561000	0.74099	CGG		0.597	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		29	50	0	0	0	1	0	29	50				
LAMB4	22798	broad.mit.edu	37	7	107669625	107669625	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:107669625T>C	ENST00000388781.3	-	33	5092	c.5009A>G	c.(5008-5010)aAa>aGa	p.K1670R	LAMB4_ENST00000388780.3_Missense_Mutation_p.K1670R|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Missense_Mutation_p.K1670R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1670	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATATTGTTTTTTCAGCTCAAC	0.343																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(5008-5010)aAa>aGa		laminin, beta 4							121.0	108.0	112.0					7																	107669625		2202	4299	6501	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107669625T>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.5009A>G	7.37:g.107669625T>C	ENSP00000373433:p.Lys1670Arg					LAMB4_ENST00000388780.3_Missense_Mutation_p.K1670R|LAMB4_ENST00000205386.4_Missense_Mutation_p.K1670R|LAMB4_ENST00000483484.1_5'UTR	p.K1670R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			33	5092	-			1670			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.5009A>G	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796346	0.31777	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.78246	1.39;1.39;-1.16;1.41	4.34	3.15	0.36227	.	0.281498	0.24851	N	0.035090	T	0.76842	0.4044	L	0.39898	1.24	0.21355	N	0.999719	P;D	0.67145	0.48;0.996	B;P	0.60609	0.316;0.877	T	0.64580	-0.6374	10	0.21014	T	0.42	.	7.8951	0.29702	0.184:0.0:0.0:0.816	.	1670;1670	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	R	1670;1670;696;1670	ENSP00000205386:K1670R;ENSP00000373433:K1670R;ENSP00000416562:K696R;ENSP00000373432:K1670R	ENSP00000205386:K1670R	K	-	2	0	LAMB4	107456861	0.208000	0.23494	0.026000	0.17262	0.954000	0.61252	0.790000	0.26900	0.670000	0.31165	0.533000	0.62120	AAA		0.343	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		21	126	0	0	0	1	0	21	126				
ARID4A	5926	broad.mit.edu	37	14	58817876	58817876	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:58817876A>G	ENST00000355431.3	+	16	1863	c.1490A>G	c.(1489-1491)gAt>gGt	p.D497G	ARID4A_ENST00000395168.3_Missense_Mutation_p.D497G|ARID4A_ENST00000431317.2_Missense_Mutation_p.D497G|ARID4A_ENST00000348476.3_Missense_Mutation_p.D497G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	497					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGATAATGATACAGAAAAT	0.333																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1489-1491)gAt>gGt		AT rich interactive domain 4A (RBP1-like)							61.0	67.0	65.0					14																	58817876		2200	4288	6488	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58817876A>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1490A>G	14.37:g.58817876A>G	ENSP00000347602:p.Asp497Gly					ARID4A_ENST00000431317.2_Missense_Mutation_p.D497G|ARID4A_ENST00000395168.3_Missense_Mutation_p.D497G|ARID4A_ENST00000348476.3_Missense_Mutation_p.D497G	p.D497G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			16	1863	+			497					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.1490A>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.502927	0.44558	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.41400	1.0;2.44;2.44;2.44;2.41	5.83	5.83	0.93111	.	0.608547	0.17802	N	0.161503	T	0.32615	0.0835	N	0.24115	0.695	0.48236	D	0.999612	B;B;B	0.33171	0.4;0.209;0.264	B;B;B	0.30855	0.121;0.053;0.085	T	0.16571	-1.0398	10	0.56958	D	0.05	-28.0353	15.854	0.78960	1.0:0.0:0.0:0.0	.	497;497;497	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	G	497;497;497;497;175	ENSP00000347602:D497G;ENSP00000344556:D497G;ENSP00000378597:D497G;ENSP00000397368:D497G;ENSP00000416053:D175G	ENSP00000344556:D497G	D	+	2	0	ARID4A	57887629	1.000000	0.71417	0.948000	0.38648	0.976000	0.68499	4.195000	0.58400	2.219000	0.72066	0.533000	0.62120	GAT		0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		21	60	0	0	0	1	0	21	60				
PHOX2B	8929	broad.mit.edu	37	4	41750617	41750617	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:41750617A>C	ENST00000226382.2	-	1	370	c.11T>G	c.(10-12)aTg>aGg	p.M4R	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	4					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						AGAATATTCCATTTTATACAT	0.478			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"""Mis, F"""	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(10-12)aTg>aGg		paired-like homeobox 2b							31.0	32.0	31.0					4																	41750617		2203	4300	6503	SO:0001583	missense	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41750617A>C	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.11T>G	4.37:g.41750617A>C	ENSP00000226382:p.Met4Arg					RP11-227F19.1_ENST00000508038.1_RNA	p.M4R	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN			1	370	-			4					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.11T>G	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.996052	0.35226	.	.	ENSG00000109132	ENST00000226382	D	0.91351	-2.83	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.68952	2.095	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.94972	0.8118	10	0.87932	D	0	.	15.9043	0.79412	1.0:0.0:0.0:0.0	.	4	Q99453	PHX2B_HUMAN	R	4	ENSP00000226382:M4R	ENSP00000226382:M4R	M	-	2	0	PHOX2B	41445374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.114000	0.94329	2.169000	0.68431	0.459000	0.35465	ATG		0.478	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			16	35	0	0	0	1	0	16	35				
CDH9	1007	broad.mit.edu	37	5	26881432	26881432	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:26881432C>G	ENST00000231021.4	-	12	2355	c.2183G>C	c.(2182-2184)aGt>aCt	p.S728T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	728					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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGGAGGTGCACTTGGGTCTGC	0.413																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(2182-2184)aGt>aCt		cadherin 9, type 2 (T1-cadherin)							151.0	142.0	145.0					5																	26881432		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881432C>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2183G>C	5.37:g.26881432C>G	ENSP00000231021:p.Ser728Thr						p.S728T	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2355	-			728					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2183G>C	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160929	0.01673	.	.	ENSG00000113100	ENST00000231021	T	0.75938	-0.98	5.36	4.43	0.53597	Cadherin, cytoplasmic domain (1);	0.238169	0.48286	D	0.000199	T	0.48370	0.1496	N	0.02865	-0.47	0.32232	N	0.57379	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.002	T	0.50857	-0.8778	9	.	.	.	.	12.3782	0.55291	0.0:0.6752:0.3248:0.0	.	321;728	B4DFP0;Q9ULB4	.;CADH9_HUMAN	T	728	ENSP00000231021:S728T	.	S	-	2	0	CDH9	26917189	0.990000	0.36364	0.994000	0.49952	0.289000	0.27227	3.931000	0.56529	2.504000	0.84457	0.557000	0.71058	AGT		0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		60	114	0	0	0	1	0	60	114				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	24	0	0	0	1	0	3	24				
CHN1	1123	broad.mit.edu	37	2	175673737	175673737	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:175673737T>G	ENST00000409900.3	-	11	1311	c.998A>C	c.(997-999)tAt>tCt	p.Y333S	CHN1_ENST00000295497.7_Missense_Mutation_p.Y208S|CHN1_ENST00000409156.3_Missense_Mutation_p.Y307S|CHN1_ENST00000409597.1_Missense_Mutation_p.Y149S|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	333	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GATATCTTCATACATGTTCAC	0.338			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(997-999)tAt>tCt		chimerin 1							175.0	167.0	169.0					2																	175673737		1869	4109	5978	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175673737T>G		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.998A>C	2.37:g.175673737T>G	ENSP00000386741:p.Tyr333Ser					CHN1_ENST00000295497.7_Missense_Mutation_p.Y208S|CHN1_ENST00000409597.1_Missense_Mutation_p.Y149S|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.Y307S	p.Y333S	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		11	1311	-			333			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.998A>C	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394837	0.83011	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238	T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	4.85	4.85	0.62838	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.20075	-1.0286	10	0.54805	T	0.06	.	13.8996	0.63794	0.0:0.0:0.0:1.0	.	307;333;208	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	S	333;208;149;307;125;108;151;159	ENSP00000386741:Y333S;ENSP00000295497:Y208S;ENSP00000386469:Y149S;ENSP00000386470:Y307S;ENSP00000386322:Y125S;ENSP00000411911:Y108S;ENSP00000410496:Y151S;ENSP00000409798:Y159S	ENSP00000295497:Y208S	Y	-	2	0	CHN1	175381983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	1.942000	0.56320	0.374000	0.22700	TAT		0.338	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		20	154	0	0	0	1	0	20	154				
OR10G4	390264	broad.mit.edu	37	11	123886371	123886371	+	Silent	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:123886371G>T	ENST00000320891.4	+	1	90	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAATCTTCCTGGTGGTTTACG	0.572																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(88-90)ctG>ctT		olfactory receptor, family 10, subfamily G, member 4							144.0	100.0	115.0					11																	123886371		2202	4295	6497	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886371G>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.90G>T	11.37:g.123886371G>T							p.L30L	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	90	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	30					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.90G>T	CCDS31702.1																																																																																				0.572	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		13	38	1	0	4.72057e-08	1	5.17375e-08	13	38				
FAM180A	389558	broad.mit.edu	37	7	135418804	135418804	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:135418804G>C	ENST00000338588.3	-	3	706	c.441C>G	c.(439-441)atC>atG	p.I147M	FAM180A_ENST00000415751.1_Missense_Mutation_p.I147M|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	147						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						ACTGCGCCCAGATGTCCTTCT	0.607																																						ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(439-441)atC>atG		family with sequence similarity 180, member A							103.0	87.0	93.0					7																	135418804		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418804G>C	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.441C>G	7.37:g.135418804G>C	ENSP00000342336:p.Ile147Met					FAM180A_ENST00000415751.1_Missense_Mutation_p.I147M	p.I147M	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	706	-			147					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.441C>G	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724548	0.48728	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.31510	1.49;1.49	5.65	2.57	0.30868	.	0.810801	0.11868	N	0.521742	T	0.23649	0.0572	L	0.33485	1.01	0.43080	D	0.994733	B	0.30914	0.3	B	0.33454	0.164	T	0.06409	-1.0828	10	0.30078	T	0.28	-20.1861	9.5882	0.39530	0.0:0.2615:0.5898:0.1486	.	147	Q6UWF9	F180A_HUMAN	M	147	ENSP00000342336:I147M;ENSP00000395467:I147M	ENSP00000342336:I147M	I	-	3	3	FAM180A	135069344	0.994000	0.37717	0.998000	0.56505	0.963000	0.63663	1.018000	0.30002	1.340000	0.45581	0.561000	0.74099	ATC		0.607	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		11	42	0	0	0	1	0	11	42				
TGIF1	7050	broad.mit.edu	37	18	3457732	3457732	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr18:3457732G>A	ENST00000330513.5	+	3	1303	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	TGIF1_ENST00000343820.5_Missense_Mutation_p.A205T|TGIF1_ENST00000345133.5_Missense_Mutation_p.A185T|TGIF1_ENST00000551541.1_Missense_Mutation_p.A185T|TGIF1_ENST00000405385.3_Missense_Mutation_p.A185T|TGIF1_ENST00000400167.2_Missense_Mutation_p.A185T|TGIF1_ENST00000401449.1_Missense_Mutation_p.A185T|TGIF1_ENST00000472042.1_Missense_Mutation_p.A185T|TGIF1_ENST00000407501.2_Missense_Mutation_p.A205T|TGIF1_ENST00000548489.2_Missense_Mutation_p.A219T	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	334					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCAGATAGCGGCCAAAAACTT	0.483																																						ENST00000472042.1																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(553-555)Gcc>Acc		TGFB-induced factor homeobox 1							151.0	132.0	138.0					18																	3457732		2203	4300	6503	SO:0001583	missense	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3457732G>A	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.1000G>A	18.37:g.3457732G>A	ENSP00000327959:p.Ala334Thr					TGIF1_ENST00000407501.2_Missense_Mutation_p.A205T|TGIF1_ENST00000345133.5_Missense_Mutation_p.A185T|TGIF1_ENST00000548489.2_Missense_Mutation_p.A219T|TGIF1_ENST00000400167.2_Missense_Mutation_p.A185T|TGIF1_ENST00000551541.1_Missense_Mutation_p.A185T|TGIF1_ENST00000405385.3_Missense_Mutation_p.A185T|TGIF1_ENST00000343820.5_Missense_Mutation_p.A205T|TGIF1_ENST00000330513.5_Missense_Mutation_p.A334T|TGIF1_ENST00000401449.1_Missense_Mutation_p.A185T	p.A185T			Q15583	TGIF1_HUMAN			2	1537	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	334					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	c.553G>A	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	G	0.586	-0.835128	0.02713	.	.	ENSG00000177426	ENST00000401449;ENST00000548489;ENST00000549780;ENST00000405385;ENST00000343820;ENST00000407501;ENST00000551541;ENST00000345133;ENST00000330513;ENST00000549546;ENST00000400167;ENST00000472042	T;T;T;T;T;T;T;T;T;T;T;T	0.57107	0.55;0.51;0.51;0.55;0.52;0.52;0.55;0.55;0.42;0.55;0.55;0.55	5.5	1.55	0.23275	.	0.511703	0.22570	N	0.058353	T	0.40322	0.1112	L	0.51422	1.61	0.48040	D	0.999575	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.11690	-1.0577	9	.	.	.	-7.6951	6.636	0.22883	0.2048:0.2472:0.548:0.0	.	334;205;219	Q15583;Q15583-2;F8VZB6	TGIF1_HUMAN;.;.	T	185;219;185;185;205;205;185;185;334;185;185;185	ENSP00000385206:A185T;ENSP00000447747:A219T;ENSP00000448121:A185T;ENSP00000384970:A185T;ENSP00000339631:A205T;ENSP00000384133:A205T;ENSP00000450025:A185T;ENSP00000343969:A185T;ENSP00000327959:A334T;ENSP00000449580:A185T;ENSP00000383031:A185T;ENSP00000449501:A185T	.	A	+	1	0	TGIF1	3447732	0.003000	0.15002	0.970000	0.41538	0.047000	0.14425	0.456000	0.21859	0.001000	0.14605	0.563000	0.77884	GCC		0.483	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		4	55	0	0	0	1	0	4	55				
ROS1	6098	broad.mit.edu	37	6	117677962	117677962	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:117677962C>A	ENST00000368508.3	-	25	4169	c.3971G>T	c.(3970-3972)aGg>aTg	p.R1324M	ROS1_ENST00000368507.3_Missense_Mutation_p.R1319M|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1324					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACATTGATTCCTTTTGTTTTG	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3970-3972)aGg>aTg		c-ros oncogene 1 , receptor tyrosine kinase							217.0	179.0	192.0					6																	117677962		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117677962C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3971G>T	6.37:g.117677962C>A	ENSP00000357494:p.Arg1324Met					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1319M	p.R1324M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	25	4169	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1324					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3971G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.294229	0.23564	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70986	-0.53;-0.53	5.08	0.944	0.19537	.	0.430446	0.23371	N	0.048911	T	0.34542	0.0901	N	0.24115	0.695	0.09310	N	1	B	0.31790	0.34	B	0.36186	0.219	T	0.22417	-1.0217	10	0.51188	T	0.08	.	5.8747	0.18822	0.0:0.6187:0.1395:0.2418	.	1324	P08922	ROS1_HUMAN	M	1324;1319	ENSP00000357494:R1324M;ENSP00000357493:R1319M	ENSP00000357493:R1319M	R	-	2	0	ROS1	117784655	0.001000	0.12720	0.001000	0.08648	0.232000	0.25224	0.219000	0.17641	0.363000	0.24346	0.655000	0.94253	AGG		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			26	71	1	0	3.73988e-18	1	4.57468e-18	26	71				
NOS1AP	9722	broad.mit.edu	37	1	162335326	162335326	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:162335326G>A	ENST00000361897.5	+	9	1474	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	NOS1AP_ENST00000530878.1_Missense_Mutation_p.E353K|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E44K|NOS1AP_ENST00000493151.1_Missense_Mutation_p.E63K	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	358					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCAGGTGCAAGAGCTGGAACT	0.592																																						ENST00000493151.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(187-189)Gag>Aag		nitric oxide synthase 1 (neuronal) adaptor protein							58.0	50.0	53.0					1																	162335326		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162335326G>A	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1072G>A	1.37:g.162335326G>A	ENSP00000355133:p.Glu358Lys					RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E44K|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E358K|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E353K	p.E63K	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		1	2554	+	all_hematologic(112;0.203)		358			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.187G>A	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	36	5.923978	0.97110	.	.	ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000254706	ENST00000530878;ENST00000361897;ENST00000464284;ENST00000493151;ENST00000431696	T;T	0.81163	-1.46;-1.46	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	L	0.60455	1.87	.	.	.	D;D;D	0.76494	0.999;0.991;0.991	D;P;P	0.83275	0.996;0.656;0.727	D	0.87225	0.2256	9	0.72032	D	0.01	.	18.3683	0.90399	0.0:0.0:1.0:0.0	.	63;353;358	Q3T551;B7ZLF5;O75052	.;.;CAPON_HUMAN	K	353;358;14;63;44	ENSP00000431586:E353K;ENSP00000355133:E358K	ENSP00000355133:E358K	E	+	1	0	NOS1AP;RP11-565P22.6	160601950	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.254000	0.95512	2.676000	0.91093	0.655000	0.94253	GAG		0.592	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		25	38	0	0	0	1	0	25	38				
ADPRH	141	broad.mit.edu	37	3	119306398	119306398	+	Silent	SNP	C	C	T	rs148728137	byFrequency	TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr3:119306398C>T	ENST00000478399.1	+	4	2152	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ADPRH_ENST00000478927.1_Silent_p.F249F|ADPRH_ENST00000357003.3_Silent_p.F249F|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.F249F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	249					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTGAGTCTTTCGGTGTGAAGG	0.507													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18515	0.0		0.0	False		,,,				2504	0.0				GBM(133;579 1804 5989 9967 40052)	ENST00000478399.1																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(745-747)ttC>ttT		ADP-ribosylarginine hydrolase		C		1,4405	2.1+/-5.4	0,1,2202	96.0	84.0	88.0		747	-2.5	0.0	3	dbSNP_134	88	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	ADPRH	NM_001125.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		249/358	119306398	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119306398C>T	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.747C>T	3.37:g.119306398C>T						ADPRH_ENST00000357003.3_Silent_p.F249F|ADPRH_ENST00000478927.1_Silent_p.F249F|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.F249F	p.F249F			P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	4	2152	+		Lung NSC(201;0.0977)	249					B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	c.747C>T	CCDS2990.1																																																																																				0.507	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		5	119	0	0	0	1	0	5	119				
HGS	9146	broad.mit.edu	37	17	79652675	79652675	+	Silent	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:79652675G>A	ENST00000329138.4	+	2	213	c.78G>A	c.(76-78)gaG>gaA	p.E26E	ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000397498.4_5'Flank|ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000570561.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	26	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGATTGGGAGTCCATTTTGC	0.597																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(76-78)gaG>gaA		hepatocyte growth factor-regulated tyrosine kinase substrate							95.0	84.0	88.0					17																	79652675		2202	4300	6502	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79652675G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.78G>A	17.37:g.79652675G>A							p.E26E	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		2	213	+	all_neural(118;0.0878)|all_lung(278;0.23)		26			VHS.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.78G>A	CCDS11784.1																																																																																				0.597	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		36	79	0	0	0	1	0	36	79				
TPTE	7179	broad.mit.edu	37	21	10934967	10934967	+	Missense_Mutation	SNP	G	G	C	rs148448130	byFrequency	TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr21:10934967G>C	ENST00000361285.4	-	15	1155	c.826C>G	c.(826-828)Cga>Gga	p.R276G	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R238G|TPTE_ENST00000298232.7_Missense_Mutation_p.R258G	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	276	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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)	p.R276R(1)|p.R258R(1)		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)		TAGTGGTTTCGGTGTTTCTTA	0.358																																						ENST00000298232.7																			2	Substitution - coding silent(2)	p.R276R(1)|p.R258R(1)	lung(2)	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						c.(772-774)Cga>Gga		transmembrane phosphatase with tensin homology		G	GLY/ARG,GLY/ARG,GLY/ARG	0,4406		0,0,2203	257.0	229.0	238.0		772,712,826	2.2	0.0	21	dbSNP_134	238	2,8598		0,2,4298	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	125,125,125	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	benign,benign,benign	258/534,238/514,276/552	10934967	2,13004	2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934967G>C	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	ENST00000361285.4:c.826C>G	21.37:g.10934967G>C	ENSP00000355208:p.Arg276Gly					TPTE_ENST00000361285.4_Missense_Mutation_p.R276G|TPTE_ENST00000342420.5_Missense_Mutation_p.R238G|TPTE_ENST00000415664.2_5'UTR	p.R258G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	14	1139	-			276			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.772C>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.025	-1.379343	0.01204	0.0	2.33E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.27720	1.65;1.65;1.65	2.25	2.25	0.28309	Phosphatase tensin type (1);	0.874116	0.10137	U	0.711356	T	0.10981	0.0268	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.003	T	0.27400	-1.0075	10	0.13853	T	0.58	-0.2719	8.1009	0.30857	0.0:0.0:1.0:0.0	.	238;258;276	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	G	258;276;238	ENSP00000298232:R258G;ENSP00000355208:R276G;ENSP00000344441:R238G	ENSP00000298232:R258G	R	-	1	2	TPTE	9956838	0.000000	0.05858	0.045000	0.18777	0.043000	0.13939	-0.329000	0.07935	1.585000	0.49928	0.194000	0.17425	CGA		0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			25	267	0	0	0	1	0	25	267				
SIDT2	51092	broad.mit.edu	37	11	117060985	117060985	+	Missense_Mutation	SNP	C	C	T	rs200870091		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:117060985C>T	ENST00000324225.4	+	17	2128	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	SIDT2_ENST00000431081.2_Missense_Mutation_p.R530C|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	533					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGCCCTGCTGCGCAATGACCT	0.602																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1597-1599)Cgc>Tgc		SID1 transmembrane family, member 2							107.0	101.0	103.0					11																	117060985		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117060985C>T	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1597C>T	11.37:g.117060985C>T	ENSP00000314023:p.Arg533Cys					SIDT2_ENST00000431081.2_Missense_Mutation_p.R530C	p.R533C	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	17	2128	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	533					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.1597C>T	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918987	0.52546	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.20332	2.09;2.1;2.08	4.6	3.68	0.42216	.	0.254605	0.38272	N	0.001742	T	0.20292	0.0488	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.25007	0.085;0.116;0.105;0.105	B;B;B;B	0.24155	0.03;0.011;0.032;0.051	T	0.04413	-1.0953	10	0.56958	D	0.05	-20.9358	12.6373	0.56690	0.1649:0.8351:0.0:0.0	.	554;530;533;554	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	C	533;554;530	ENSP00000314023:R533C;ENSP00000278951:R554C;ENSP00000399635:R530C	ENSP00000278951:R554C	R	+	1	0	SIDT2	116566195	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.567000	0.53813	1.130000	0.42092	0.491000	0.48974	CGC		0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		23	90	0	0	0	1	0	23	90				
LRR1	122769	broad.mit.edu	37	14	50074659	50074659	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:50074659G>T	ENST00000298288.6	+	3	1148	c.824G>T	c.(823-825)cGc>cTc	p.R275L	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	275					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATAAACCTTCGCTTTTTGTCA	0.343																																						ENST00000298288.6																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(823-825)cGc>cTc		leucine rich repeat protein 1							44.0	47.0	46.0					14																	50074659		2203	4300	6503	SO:0001583	missense	122769							g.chr14:50074659G>T	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.824G>T	14.37:g.50074659G>T	ENSP00000298288:p.Arg275Leu					LRR1_ENST00000318317.4_Intron	p.R275L	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN			3	1148	+			275					A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	37	c.824G>T	CCDS9686.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386456	0.61956	.	.	ENSG00000165501	ENST00000298288;ENST00000361579	T	0.19806	2.12	5.89	4.08	0.47627	.	0.049045	0.85682	D	0.000000	T	0.31327	0.0793	M	0.78456	2.415	0.80722	D	1	P;D	0.57899	0.882;0.981	B;P	0.46208	0.389;0.507	T	0.15665	-1.0429	10	0.52906	T	0.07	-8.8176	12.5284	0.56100	0.1344:0.0:0.8656:0.0	.	297;275	A8MSW2;Q96L50	.;LLR1_HUMAN	L	275;297	ENSP00000298288:R275L	ENSP00000298288:R275L	R	+	2	0	LRR1	49144409	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	6.433000	0.73404	0.853000	0.35312	0.585000	0.79938	CGC		0.343	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		21	70	1	0	1.55795e-14	1	1.85599e-14	21	70				
KBTBD13	390594	broad.mit.edu	37	15	65370387	65370387	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr15:65370387C>A	ENST00000432196.2	+	1	1234	c.1234C>A	c.(1234-1236)Ctg>Atg	p.L412M	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	412					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CATGTTCACGCTGCTCTACGC	0.667																																						ENST00000432196.2																			0				lung(1)|prostate(1)|skin(1)	3						c.(1234-1236)Ctg>Atg		kelch repeat and BTB (POZ) domain containing 13							11.0	12.0	12.0					15																	65370387		2076	4183	6259	SO:0001583	missense	390594					cytoplasm		g.chr15:65370387C>A		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.1234C>A	15.37:g.65370387C>A	ENSP00000388723:p.Leu412Met						p.L412M	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN			1	1234	+			412						Missense_Mutation	SNP	ENST00000432196.2	37	c.1234C>A	CCDS45281.1	.	.	.	.	.	.	.	.	.	.	C	9.375	1.071614	0.20147	.	.	ENSG00000234438	ENST00000432196	T	0.68479	-0.33	4.97	-2.3	0.06785	Kelch-type beta propeller (1);	.	.	.	.	T	0.50633	0.1627	L	0.46157	1.445	0.09310	N	0.999999	B	0.22541	0.071	B	0.26864	0.074	T	0.42120	-0.9470	9	0.35671	T	0.21	.	0.6327	0.00797	0.2441:0.3016:0.2383:0.2159	.	412	C9JR72	KBTBD_HUMAN	M	412	ENSP00000388723:L412M	ENSP00000388723:L412M	L	+	1	2	KBTBD13	63157440	0.001000	0.12720	0.569000	0.28460	0.655000	0.38815	-0.011000	0.12721	-0.395000	0.07715	-0.150000	0.13652	CTG		0.667	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		7	27	1	0	8.12818e-05	1	8.50047e-05	7	27				
ETV3	2117	broad.mit.edu	37	1	157105334	157105334	+	Silent	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:157105334C>T	ENST00000368192.4	-	3	277	c.213G>A	c.(211-213)gaG>gaA	p.E71E	ETV3_ENST00000326786.4_Silent_p.E71E|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	71					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GGCGGGCCACCTCATCTGGAT	0.547																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(211-213)gaG>gaA		ets variant 3							44.0	47.0	46.0					1																	157105334		2203	4291	6494	SO:0001819	synonymous_variant	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105334C>T	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.213G>A	1.37:g.157105334C>T						ETV3_ENST00000326786.4_Silent_p.E71E|ETV3_ENST00000460850.1_5'UTR	p.E71E	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			3	277	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	71					B4E3M7|Q8TAC8|Q9BX30	Silent	SNP	ENST00000368192.4	37	c.213G>A	CCDS44250.1																																																																																				0.547	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		13	40	0	0	0	1	0	13	40				
LMBRD1	55788	broad.mit.edu	37	6	70386387	70386387	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:70386387C>A	ENST00000370577.3	-	15	1693	c.1464G>T	c.(1462-1464)tgG>tgT	p.W488C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.W415C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	488					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CACTGAAGAACCAGAACTTGT	0.383																																						ENST00000370577.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(1462-1464)tgG>tgT		LMBR1 domain containing 1							96.0	91.0	93.0					6																	70386387		2203	4300	6503	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70386387C>A	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1464G>T	6.37:g.70386387C>A	ENSP00000359609:p.Trp488Cys					LMBRD1_ENST00000370570.1_Missense_Mutation_p.W415C	p.W488C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN			15	1693	-			488					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.1464G>T	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553845	0.86231	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.17854	2.25;2.25	5.28	5.28	0.74379	.	0.116782	0.64402	D	0.000007	T	0.37812	0.1017	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.15954	-1.0419	10	0.42905	T	0.14	-4.4473	18.905	0.92456	0.0:1.0:0.0:0.0	.	488	Q9NUN5	LMBD1_HUMAN	C	488;415	ENSP00000359609:W488C;ENSP00000359602:W415C	ENSP00000359602:W415C	W	-	3	0	LMBRD1	70443108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.467000	0.83353	0.591000	0.81541	TGG		0.383	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		21	35	1	0	2.21704e-12	1	2.53112e-12	21	35				
KIF2B	84643	broad.mit.edu	37	17	51901844	51901844	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:51901844G>C	ENST00000268919.4	+	1	1606	c.1450G>C	c.(1450-1452)Gct>Cct	p.A484P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	484	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATGTATTCTGGCTTTGGGTCA	0.507																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1450-1452)Gct>Cct		kinesin family member 2B							48.0	44.0	46.0					17																	51901844		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901844G>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1450G>C	17.37:g.51901844G>C	ENSP00000268919:p.Ala484Pro						p.A484P	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1606	+			484					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1450G>C	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166427	0.78339	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.78481	-1.18	5.73	5.73	0.89815	Kinesin, motor domain (3);	0.000000	0.44688	D	0.000437	D	0.93259	0.7852	H	0.99689	4.705	0.49389	D	0.999789	D	0.89917	1.0	D	0.91635	0.999	D	0.94918	0.8071	10	0.87932	D	0	.	12.2049	0.54346	0.0784:0.0:0.9216:0.0	.	484	Q8N4N8	KIF2B_HUMAN	P	484;372	ENSP00000268919:A484P	ENSP00000268919:A484P	A	+	1	0	KIF2B	49256843	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	8.008000	0.88588	2.854000	0.98071	0.655000	0.94253	GCT		0.507	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		27	34	0	0	0	1	0	27	34				
GPX5	2880	broad.mit.edu	37	6	28499654	28499654	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:28499654A>C	ENST00000412168.2	+	3	430	c.341A>C	c.(340-342)gAg>gCg	p.E114A	GPX5_ENST00000469384.1_Intron|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	114					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GATAACAAAGAGATTCTTCCT	0.488																																						ENST00000412168.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(340-342)gAg>gCg		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)						171.0	163.0	166.0					6																	28499654		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28499654A>C	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.341A>C	6.37:g.28499654A>C	ENSP00000392398:p.Glu114Ala					GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Intron	p.E114A	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN			3	430	+			114					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.341A>C	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907701	0.52333	.	.	ENSG00000224586	ENST00000412168	T	0.12039	2.72	3.88	3.88	0.44766	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04796	-1.0926	10	0.62326	D	0.03	-14.7481	9.3766	0.38286	1.0:0.0:0.0:0.0	.	114	O75715	GPX5_HUMAN	A	114	ENSP00000392398:E114A	ENSP00000392398:E114A	E	+	2	0	GPX5	28607633	1.000000	0.71417	0.954000	0.39281	0.428000	0.31595	7.697000	0.84279	2.001000	0.58596	0.459000	0.35465	GAG		0.488	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			39	237	0	0	0	1	0	39	237				
KAT6B	23522	broad.mit.edu	37	10	76602906	76602906	+	Silent	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr10:76602906A>G	ENST00000287239.4	+	3	780	c.291A>G	c.(289-291)ggA>ggG	p.G97G	KAT6B_ENST00000372724.1_Silent_p.G97G|KAT6B_ENST00000372714.1_Silent_p.G97G|KAT6B_ENST00000372725.1_Silent_p.G97G|KAT6B_ENST00000372711.1_Silent_p.G97G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	97					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGTCTAGAGGATCATGTAATG	0.473																																						ENST00000287239.4																			0											c.(289-291)ggA>ggG		K(lysine) acetyltransferase 6B							112.0	117.0	115.0					10																	76602906		2203	4300	6503	SO:0001819	synonymous_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76602906A>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.291A>G	10.37:g.76602906A>G						KAT6B_ENST00000372724.1_Silent_p.G97G|KAT6B_ENST00000372725.1_Silent_p.G97G|KAT6B_ENST00000372711.1_Silent_p.G97G|KAT6B_ENST00000372714.1_Silent_p.G97G	p.G97G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			3	780	+			97					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	c.291A>G	CCDS7345.1																																																																																				0.473	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		80	86	0	0	0	1	0	80	86				
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:53692748A>G	ENST00000371470.3	-	5	571	c.410T>C	c.(409-411)aTt>aCt	p.I137T	MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	137					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I137T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			1	Substitution - Missense(1)	p.I137T(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(409-411)aTt>aCt		mago-nashi homolog, proliferation-associated (Drosophila)							58.0	56.0	57.0					1																	53692748		2203	4300	6503	SO:0001583	missense	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692748A>G	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.410T>C	1.37:g.53692748A>G	ENSP00000360525:p.Ile137Thr					MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	p.I137T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	571	-			137					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Missense_Mutation	SNP	ENST00000371470.3	37	c.410T>C	CCDS577.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259752	0.59321	.	.	ENSG00000162385	ENST00000371470;ENST00000371466	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	M	0.80028	2.48	0.80722	D	1	B;B	0.32717	0.051;0.381	B;P	0.61003	0.12;0.882	D	0.84407	0.0563	9	0.42905	T	0.14	-19.5899	16.8222	0.85835	1.0:0.0:0.0:0.0	.	100;137	B1ARP8;P61326	.;MGN_HUMAN	T	137;100	.	ENSP00000360521:I100T	I	-	2	0	MAGOH	53465336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.802000	0.91910	2.371000	0.80710	0.533000	0.62120	ATT		0.378	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		3	69	0	0	0	1	0	3	69				
OR10G9	219870	broad.mit.edu	37	11	123893809	123893809	+	Silent	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:123893809G>T	ENST00000375024.1	+	1	90	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAATCTTCCTGGTGGTTTACG	0.577																																						ENST00000375024.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(88-90)ctG>ctT		olfactory receptor, family 10, subfamily G, member 9							187.0	172.0	177.0					11																	123893809		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893809G>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.90G>T	11.37:g.123893809G>T							p.L30L	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	90	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	30						Silent	SNP	ENST00000375024.1	37	c.90G>T	CCDS31703.1																																																																																				0.577	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		7	268	1	0	1.5842e-08	1	1.75029e-08	7	268				
C10orf10	11067	broad.mit.edu	37	10	45473232	45473232	+	Nonsense_Mutation	SNP	G	G	A	rs374920840		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr10:45473232G>A	ENST00000298295.3	-	2	464	c.247C>T	c.(247-249)Cga>Tga	p.R83*	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000340258.5_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	83						mitochondrion (GO:0005739)				lung(1)	1						GTGATGTCTCGCAGGGACACA	0.667																																						ENST00000298295.3																			0				lung(1)	1						c.(247-249)Cga>Tga		chromosome 10 open reading frame 10		G	stop/ARG,	0,4406		0,0,2203	40.0	42.0	42.0		247,	1.5	0.0	10		42	1,8597		0,1,4298	no	stop-gained,intron	C10orf10,RASSF4	NM_007021.3,NM_032023.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	83/213,	45473232	1,13003	2203	4299	6502	SO:0001587	stop_gained	11067					mitochondrion		g.chr10:45473232G>A	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.247C>T	10.37:g.45473232G>A	ENSP00000298295:p.Arg83*					RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.4_Intron	p.R83*	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN			2	464	-			83					B2R6A1|O94997|Q5T735|Q76MX8	Nonsense_Mutation	SNP	ENST00000298295.3	37	c.247C>T	CCDS7210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.475422|4.475422	0.84640|0.84640	0.0|0.0	1.16E-4|1.16E-4	ENSG00000165507|ENSG00000165507	ENST00000432283|ENST00000298295;ENST00000448778	.|.	.|.	.|.	5.54|5.54	1.46|1.46	0.22682|0.22682	.|.	.|0.517188	.|0.16157	.|N	.|0.226943	.|.	.|.	.|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999996|0.999996	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	.|-0.0164	2.177|2.177	0.03865|0.03865	0.1738:0.1595:0.513:0.1537|0.1738:0.1595:0.513:0.1537	.|.	.|.	.|.	.|.	.|X	-1|83	.|.	.|ENSP00000298295:R83X	.|R	-|-	.|1	.|2	C10orf10|C10orf10	44793238|44793238	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.108000|0.108000	0.19459|0.19459	1.133000|1.133000	0.31430|0.31430	0.012000|0.012000	0.14892|0.14892	0.561000|0.561000	0.74099|0.74099	.|CGA		0.667	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		21	29	0	0	0	1	0	21	29				
GBP7	388646	broad.mit.edu	37	1	89630514	89630514	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:89630514G>C	ENST00000294671.2	-	3	356	c.218C>G	c.(217-219)tCt>tGt	p.S73C		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	73	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTTGGTTTCAGACTTCACTGT	0.522																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(217-219)tCt>tGt		guanylate binding protein 7							93.0	86.0	88.0					1																	89630514		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89630514G>C	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.218C>G	1.37:g.89630514G>C	ENSP00000294671:p.Ser73Cys						p.S73C	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	3	356	-		Lung NSC(277;0.0908)	73						Missense_Mutation	SNP	ENST00000294671.2	37	c.218C>G	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517803	0.44763	.	.	ENSG00000213512	ENST00000294671	T	0.64260	-0.09	3.43	2.51	0.30379	Guanylate-binding protein, N-terminal (1);	0.412775	0.24122	N	0.041346	T	0.77685	0.4167	H	0.97186	3.955	0.30166	N	0.801747	D	0.89917	1.0	D	0.75020	0.985	T	0.73898	-0.3837	10	0.87932	D	0	.	8.6892	0.34256	0.1187:0.0:0.8813:0.0	.	73	Q8N8V2	GBP7_HUMAN	C	73	ENSP00000294671:S73C	ENSP00000294671:S73C	S	-	2	0	GBP7	89403102	1.000000	0.71417	0.308000	0.25141	0.648000	0.38561	7.131000	0.77243	0.760000	0.33108	0.462000	0.41574	TCT		0.522	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		15	80	0	0	0	1	0	15	80				
CEACAM5	1048	broad.mit.edu	37	19	42223994	42223994	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr19:42223994G>T	ENST00000221992.6	+	7	1752	c.1638G>T	c.(1636-1638)agG>agT	p.R546S	CEACAM5_ENST00000398599.4_Missense_Mutation_p.R545S|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R546S|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	546	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCAGTCCCAGGCTGCAGCTGT	0.517																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1636-1638)agG>agT		carcinoembryonic antigen-related cell adhesion molecule 5							176.0	156.0	162.0					19																	42223994		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42223994G>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1638G>T	19.37:g.42223994G>T	ENSP00000221992:p.Arg546Ser					CEACAM5_ENST00000405816.1_Missense_Mutation_p.R546S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R545S|CEA_ENST00000598976.1_Intron	p.R546S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1752	+			546			Ig-like 6.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1638G>T	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.48|12.48	1.951534|1.951534	0.34471|0.34471	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.02682	.|4.2;4.2	2.31|2.31	1.24|1.24	0.21308|0.21308	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.15176|0.15176	0.0366|0.0366	M|M	0.91717|0.91717	3.235|3.235	0.09310|0.09310	N|N	1|1	.|D;D	.|0.69078	.|0.997;0.993	.|D;D	.|0.78314	.|0.991;0.981	T|T	0.04621|0.04621	-1.0938|-1.0938	5|9	.|0.56958	.|D	.|0.05	.|.	5.1312|5.1312	0.14911|0.14911	0.1757:0.0:0.8243:0.0|0.1757:0.0:0.8243:0.0	.|.	.|546;546	.|P06731;Q53G30	.|CEAM5_HUMAN;.	S|S	542|546;546;264	.|ENSP00000221992:R546S;ENSP00000385072:R546S	.|ENSP00000221992:R546S	A|R	+|+	1|3	0|2	CEACAM5|CEACAM5	46915834|46915834	0.150000|0.150000	0.22732|0.22732	0.016000|0.016000	0.15963|0.15963	0.063000|0.063000	0.16089|0.16089	1.317000|1.317000	0.33631|0.33631	0.505000|0.505000	0.28104|0.28104	0.404000|0.404000	0.27445|0.27445	GCT|AGG		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		44	171	1	0	3.4345e-17	1	4.12742e-17	44	171				
PRSS33	260429	broad.mit.edu	37	16	2834670	2834670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr16:2834670C>T	ENST00000293851.5	-	6	977	c.818G>A	c.(817-819)tGg>tAg	p.W273*	PRSS33_ENST00000576886.1_3'UTR|PRSS33_ENST00000570702.1_Nonsense_Mutation_p.W273*	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	273	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						AGCCTGAATCCAGGGGCTATA	0.637																																					NSCLC(194;489 2153 16702 19171 27758)	ENST00000293851.5																			0				prostate(1)	1						c.(817-819)tGg>tAg		protease, serine, 33							25.0	29.0	27.0					16																	2834670		2023	4183	6206	SO:0001587	stop_gained	260429				proteolysis		serine-type endopeptidase activity	g.chr16:2834670C>T	AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"""Serine peptidases / Serine peptidases"""	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.818G>A	16.37:g.2834670C>T	ENSP00000293851:p.Trp273*					PRSS33_ENST00000570702.1_Nonsense_Mutation_p.W273*|PRSS33_ENST00000576886.1_3'UTR	p.W273*	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN			6	977	-			273			Peptidase S1.		A6NNQ3|Q8N171	Nonsense_Mutation	SNP	ENST00000293851.5	37	c.818G>A	CCDS42110.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320524	0.81469	.	.	ENSG00000103355	ENST00000293851	.	.	.	4.7	4.7	0.59300	.	0.000000	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1831	0.72975	0.0:1.0:0.0:0.0	.	.	.	.	X	273	.	ENSP00000293851:W273X	W	-	2	0	PRSS33	2774671	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.420000	0.80191	2.170000	0.68504	0.550000	0.68814	TGG		0.637	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436446.1	NM_152891		9	9	0	0	0	1	0	9	9				
SERPINH1	871	broad.mit.edu	37	11	75277940	75277940	+	Silent	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:75277940C>T	ENST00000524558.1	+	2	1981	c.546C>T	c.(544-546)gaC>gaT	p.D182D	SERPINH1_ENST00000358171.3_Silent_p.D182D|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000533603.1_Silent_p.D182D|SERPINH1_ENST00000530284.1_Silent_p.D182D			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	182					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					AGACCACCGACGGCAAGCTGC	0.647																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(544-546)gaC>gaT		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							40.0	40.0	40.0					11																	75277940		2200	4292	6492	SO:0001819	synonymous_variant	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277940C>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.546C>T	11.37:g.75277940C>T						SERPINH1_ENST00000530284.1_Silent_p.D182D|SERPINH1_ENST00000358171.3_Silent_p.D182D|SERPINH1_ENST00000533603.1_Silent_p.D182D	p.D182D			P50454	SERPH_HUMAN			2	1981	+	Ovarian(111;0.11)		182					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	c.546C>T	CCDS8239.1																																																																																				0.647	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		40	43	0	0	0	1	0	40	43				
OBSCN	84033	broad.mit.edu	37	1	228509168	228509168	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:228509168G>A	ENST00000422127.1	+	55	14670	c.14626G>A	c.(14626-14628)Gct>Act	p.A4876T	OBSCN_ENST00000366707.4_Missense_Mutation_p.A2510T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4876T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1995T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5833T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4876	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACAAGGCAGCTGTGAAGAT	0.592																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(17497-17499)Gct>Act		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							32.0	38.0	36.0					1																	228509168		2053	4193	6246	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509168G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14626G>A	1.37:g.228509168G>A	ENSP00000409493:p.Ala4876Thr					OBSCN_ENST00000366709.4_Missense_Mutation_p.A1995T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4876T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2510T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4876T	p.A5833T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			66	17571	+		Prostate(94;0.0405)	4876			DH.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.17497G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663236	0.88251	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.69780	0.3149	M	0.87381	2.88	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70026	-0.4985	10	0.31617	T	0.26	.	19.0433	0.93010	0.0:0.0:1.0:0.0	.	4876;4876	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4876;4876;2510;1995	ENSP00000284548:A4876T;ENSP00000409493:A4876T;ENSP00000355668:A2510T;ENSP00000355670:A1995T	ENSP00000284548:A4876T	A	+	1	0	OBSCN	226575791	1.000000	0.71417	0.188000	0.23233	0.423000	0.31445	9.684000	0.98659	2.510000	0.84645	0.655000	0.94253	GCT		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	11	0	0	0	1	0	8	11				
OBSCN	84033	broad.mit.edu	37	1	228558449	228558449	+	Missense_Mutation	SNP	C	C	T	rs200084844		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:228558449C>T	ENST00000422127.1	+	93	20280	c.20236C>T	c.(20236-20238)Cgc>Tgc	p.R6746C	OBSCN_ENST00000366707.4_Missense_Mutation_p.R4380C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R7703C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6746					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCGAAGTCGCTGGCAGGT	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23107-23109)Cgc>Tgc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							89.0	95.0	93.0					1																	228558449		2021	4178	6199	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228558449C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20236C>T	1.37:g.228558449C>T	ENSP00000409493:p.Arg6746Cys					OBSCN_ENST00000422127.1_Missense_Mutation_p.R6746C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R4380C	p.R7703C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			104	23181	+		Prostate(94;0.0405)	6746			Protein kinase 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.23107C>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.636928|3.636928	0.67130|0.67130	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|T	0.65732|0.68181	-0.17;-0.13|-0.31	4.9|4.9	3.94|3.94	0.45596|0.45596	Protein kinase-like domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.71417|0.71417	0.3337|0.3337	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.73708|.	0.981|.	T|T	0.73658|0.73658	-0.3913|-0.3913	9|7	0.87932|0.66056	D|D	0|0.02	.|.	12.0934|12.0934	0.53739|0.53739	0.3469:0.6531:0.0:0.0|0.3469:0.6531:0.0:0.0	.|.	6746|.	Q5VST9|.	OBSCN_HUMAN|.	C|L	6746;4380|1362	ENSP00000409493:R6746C;ENSP00000355668:R4380C|ENSP00000388554:S1362L	ENSP00000355668:R4380C|ENSP00000388554:S1362L	R|S	+|+	1|2	0|0	OBSCN|OBSCN	226625072|226625072	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.894000|0.894000	0.52154|0.52154	2.014000|2.014000	0.40951|0.40951	2.547000|2.547000	0.85894|0.85894	0.462000|0.462000	0.41574|0.41574	CGC|TCG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		13	113	0	0	0	1	0	13	113				
MRPL33	9553	broad.mit.edu	37	2	28002301	28002301	+	Splice_Site	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:28002301G>T	ENST00000296102.3	+	4	211	c.150G>T	c.(148-150)gtG>gtT	p.V50V	AC110084.1_ENST00000601759.1_Intron|MRPL33_ENST00000483992.1_3'UTR|MRPL33_ENST00000379666.3_Splice_Site_p.E15*	NM_004891.3	NP_004882.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	50					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					CCTCCATAGTGAAACAAAGAG	0.358																																						ENST00000296102.3																			0				breast(1)|large_intestine(1)	2						c.e4-1		mitochondrial ribosomal protein L33							78.0	89.0	86.0					2																	28002301		2203	4299	6502	SO:0001630	splice_region_variant	9553				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:28002301G>T	AB051623	CCDS1761.1, CCDS33167.1	2p21	2012-09-13			ENSG00000243147	ENSG00000243147		"""Mitochondrial ribosomal proteins / large subunits"""	14487	protein-coding gene	gene with protein product		610059		C2orf1			Standard	NM_145330		Approved	RPL33L	uc002rlm.1	O75394	OTTHUMG00000097795	ENST00000296102.3:c.149-1G>T	2.37:g.28002301G>T						MRPL33_ENST00000379666.3_Splice_Site_p.E15_splice|AC110084.1_ENST00000601759.1_Intron|MRPL33_ENST00000483992.1_3'UTR	p.V50_splice	NM_004891.3	NP_004882.1	O75394	RM33_HUMAN			4	211	+	Acute lymphoblastic leukemia(172;0.155)		50					Q53RZ6|Q5FVE3|Q96Q50	Splice_Site	SNP	ENST00000296102.3	37	c.148_splice	CCDS1761.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361765	0.24684	.	.	ENSG00000243147	ENST00000379666	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.858	0.41096	0.071:0.0:0.7895:0.1395	.	.	.	.	X	15	.	ENSP00000368988:E15X	E	+	1	0	MRPL33	27855805	1.000000	0.71417	0.956000	0.39512	0.017000	0.09413	2.427000	0.44740	2.937000	0.99478	0.650000	0.86243	GAA		0.358	MRPL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215049.1	NM_004891	Silent	15	139	1	0	3.45872e-05	1	3.64496e-05	15	139				
HERC2	8924	broad.mit.edu	37	15	28515878	28515878	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr15:28515878C>T	ENST00000261609.7	-	10	1328	c.1220G>A	c.(1219-1221)tGt>tAt	p.C407Y		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGGAGGCATACAGGGCGTAGC	0.512																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1219-1221)tGt>tAt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							99.0	77.0	84.0					15																	28515878		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28515878C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1220G>A	15.37:g.28515878C>T	ENSP00000261609:p.Cys407Tyr						p.C407Y	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	10	1328	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	407						Missense_Mutation	SNP	ENST00000261609.7	37	c.1220G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	9.360	1.067808	0.20067	.	.	ENSG00000128731	ENST00000261609	T	0.35236	1.32	5.74	5.74	0.90152	.	0.049486	0.85682	D	0.000000	T	0.21145	0.0509	N	0.10874	0.06	0.58432	D	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.14172	-1.0482	10	0.02654	T	1	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	407	O95714	HERC2_HUMAN	Y	407	ENSP00000261609:C407Y	ENSP00000261609:C407Y	C	-	2	0	HERC2	26189473	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.032000	0.57274	2.706000	0.92434	0.650000	0.86243	TGT		0.512	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	70	0	0	0	1	0	4	70				
SLCO6A1	133482	broad.mit.edu	37	5	101834536	101834536	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:101834536C>T	ENST00000506729.1	-	1	184	c.13G>A	c.(13-15)Gtc>Atc	p.V5I	RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V5I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V5I|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V5I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V5I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGCCGGGCGACGCCTACGAAC	0.701																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(13-15)Gtc>Atc		solute carrier organic anion transporter family, member 6A1							60.0	70.0	66.0					5																	101834536		2200	4291	6491	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834536C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.13G>A	5.37:g.101834536C>T	ENSP00000421339:p.Val5Ile					SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V5I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V5I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V5I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V5I	p.V5I			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	184	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	5					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.13G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341113	0.41498	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.49720	0.89;0.89;0.86;0.77;0.77	2.96	-5.92	0.02261	.	.	.	.	.	T	0.21718	0.0523	N	0.19112	0.55	0.09310	N	1	B;B;B	0.27910	0.17;0.193;0.106	B;B;B	0.12156	0.007;0.005;0.003	T	0.08452	-1.0721	9	0.45353	T	0.12	.	1.0703	0.01619	0.1425:0.3325:0.2259:0.299	.	5;5;5	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	I	5	ENSP00000421339:V5I;ENSP00000369135:V5I;ENSP00000373671:V5I;ENSP00000421990:V5I;ENSP00000369138:V5I	ENSP00000369135:V5I	V	-	1	0	SLCO6A1	101862435	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.120000	0.03273	-1.856000	0.01161	-0.350000	0.07774	GTC		0.701	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		64	100	0	0	0	1	0	64	100				
IFT81	28981	broad.mit.edu	37	12	110600833	110600833	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:110600833G>T	ENST00000242591.5	+	11	1657	c.1151G>T	c.(1150-1152)cGt>cTt	p.R384L	IFT81_ENST00000361948.4_Missense_Mutation_p.R384L|IFT81_ENST00000552912.1_Missense_Mutation_p.R384L|IFT81_ENST00000549009.1_3'UTR	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	384					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATCAGACCCGTGAATTTGAT	0.418																																						ENST00000242591.5																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(1150-1152)cGt>cTt		intraflagellar transport 81 homolog (Chlamydomonas)							130.0	124.0	126.0					12																	110600833		2203	4300	6503	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110600833G>T	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1151G>T	12.37:g.110600833G>T	ENSP00000242591:p.Arg384Leu					IFT81_ENST00000552912.1_Missense_Mutation_p.R384L|IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000361948.4_Missense_Mutation_p.R384L	p.R384L	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN			11	1657	+			384					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1151G>T	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412830	0.42817	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.32023	1.47	5.42	5.42	0.78866	.	0.285297	0.39834	N	0.001258	T	0.29190	0.0726	L	0.50333	1.59	0.80722	D	1	P;P	0.37573	0.579;0.6	B;B	0.37144	0.242;0.193	T	0.06588	-1.0818	10	0.54805	T	0.06	-9.7706	11.2241	0.48873	0.0911:0.0:0.9089:0.0	.	384;384	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	L	384;384;384;354	ENSP00000355372:R384L	ENSP00000242591:R384L	R	+	2	0	IFT81	109085216	1.000000	0.71417	0.952000	0.39060	0.944000	0.59088	4.486000	0.60286	2.553000	0.86117	0.655000	0.94253	CGT		0.418	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		37	69	1	0	2.59497e-14	1	3.06475e-14	37	69				
GABPB2	126626	broad.mit.edu	37	1	151090449	151090449	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:151090449A>T	ENST00000368918.3	+	9	1395	c.1064A>T	c.(1063-1065)gAg>gTg	p.E355V	GABPB2_ENST00000368917.1_Missense_Mutation_p.E317V|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.E317V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	355					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AATGAAAGAGAGCTACTACAG	0.468																																						ENST00000368918.3																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15						c.(1063-1065)gAg>gTg		GA binding protein transcription factor, beta subunit 2							101.0	100.0	100.0					1																	151090449		2203	4300	6503	SO:0001583	missense	126626				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	g.chr1:151090449A>T		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.1064A>T	1.37:g.151090449A>T	ENSP00000357914:p.Glu355Val					GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.E317V|GABPB2_ENST00000368917.1_Missense_Mutation_p.E317V	p.E355V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN		all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)	9	1395	+			355					B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	37	c.1064A>T	CCDS983.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802508	0.31869	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.66280	-0.05;-0.2;-0.2	5.65	4.54	0.55810	.	0.097384	0.64402	D	0.000002	T	0.42653	0.1212	L	0.58101	1.795	0.47949	D	0.999553	B;B	0.29085	0.061;0.232	B;B	0.27887	0.056;0.084	T	0.50346	-0.8839	10	0.59425	D	0.04	-2.2873	10.8539	0.46786	0.8205:0.1795:0.0:0.0	.	355;355	B2R924;Q8TAK5	.;GABP2_HUMAN	V	355;317;302;317	ENSP00000357914:E355V;ENSP00000357913:E317V;ENSP00000357912:E317V	ENSP00000357912:E317V	E	+	2	0	GABPB2	149357073	0.997000	0.39634	0.845000	0.33349	0.295000	0.27426	3.176000	0.50863	1.182000	0.42928	0.533000	0.62120	GAG		0.468	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		20	75	0	0	0	1	0	20	75				
ASPM	259266	broad.mit.edu	37	1	197094227	197094227	+	Missense_Mutation	SNP	T	T	C	rs536317935		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:197094227T>C	ENST00000367409.4	-	11	3287	c.3031A>G	c.(3031-3033)Att>Gtt	p.I1011V	ASPM_ENST00000367408.1_Missense_Mutation_p.I261V|ASPM_ENST00000294732.7_Missense_Mutation_p.I1011V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1011	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAGAACAATGTCAACATTG	0.393													T|||	1	0.000199681	0.0	0.0	5008	,	,		15899	0.0		0.0	False		,,,				2504	0.001					ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3031-3033)Att>Gtt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							142.0	133.0	136.0					1																	197094227		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197094227T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3031A>G	1.37:g.197094227T>C	ENSP00000356379:p.Ile1011Val					ASPM_ENST00000367408.1_Missense_Mutation_p.I261V|ASPM_ENST00000294732.7_Missense_Mutation_p.I1011V	p.I1011V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			11	3287	-			1011			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3031A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711859	0.30322	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58652	0.32;0.32;0.32	5.59	1.9	0.25705	Calponin homology domain (4);	0.243988	0.36444	N	0.002600	T	0.34861	0.0912	N	0.17723	0.515	0.28641	N	0.907178	B;B	0.27656	0.022;0.184	B;B	0.22152	0.018;0.038	T	0.15549	-1.0433	10	0.25751	T	0.34	.	6.9726	0.24656	0.0:0.1361:0.4286:0.4353	.	1011;1011	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	1011;1011;261	ENSP00000356379:I1011V;ENSP00000294732:I1011V;ENSP00000356378:I261V	ENSP00000294732:I1011V	I	-	1	0	ASPM	195360850	0.003000	0.15002	0.997000	0.53966	0.990000	0.78478	-0.064000	0.11636	0.126000	0.18424	-0.360000	0.07572	ATT		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		26	71	0	0	0	1	0	26	71				
MROH2B	133558	broad.mit.edu	37	5	41052690	41052690	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:41052690C>T	ENST00000399564.4	-	12	1558		c.e12-1		MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B																		AATTTCTTACCTAGGGTAAGA	0.353																																						ENST00000399564.4																			0											c.e12-1		maestro heat-like repeat family member 2B							60.0	54.0	56.0					5																	41052690		1837	4085	5922	SO:0001630	splice_region_variant	133558							g.chr5:41052690C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1108-1G>A	5.37:g.41052690C>T						MROH2B_ENST00000506092.2_Intron		NM_173489.4	NP_775760.3					12	1558	-								Q68DM1|Q7Z4U4|Q8N7X3	Splice_Site	SNP	ENST00000399564.4	37		CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512520	0.27123	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5311	0.75964	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR7B2	41088447	1.000000	0.71417	0.985000	0.45067	0.091000	0.18340	3.525000	0.53502	2.735000	0.93741	0.655000	0.94253	.		0.353	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	Intron	14	23	0	0	0	1	0	14	23				
TAF1	6872	broad.mit.edu	37	X	70607209	70607209	+	Silent	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:70607209G>A	ENST00000373790.4	+	15	2373	c.2322G>A	c.(2320-2322)cgG>cgA	p.R774R	TAF1_ENST00000449580.1_Silent_p.R774R|TAF1_ENST00000423759.1_Silent_p.R795R|TAF1_ENST00000276072.3_Silent_p.R795R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	774	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACTATATTCGGGAATTAGTGG	0.418																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(2320-2322)cgG>cgA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							147.0	135.0	139.0					X																	70607209		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70607209G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2322G>A	X.37:g.70607209G>A						TAF1_ENST00000373790.4_Silent_p.R774R|TAF1_ENST00000276072.3_Silent_p.R795R|TAF1_ENST00000423759.1_Silent_p.R795R	p.R774R			P21675	TAF1_HUMAN			15	2373	+	Renal(35;0.156)	all_lung(315;0.000321)	774					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.2322G>A	CCDS35325.1																																																																																				0.418	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		28	185	0	0	0	1	0	28	185				
VEGFB	7423	broad.mit.edu	37	11	64004683	64004683	+	Silent	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:64004683G>T	ENST00000309422.2	+	5	695	c.399G>T	c.(397-399)gtG>gtT	p.V133V	VEGFB_ENST00000426086.2_Silent_p.V133V|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	133					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	ACAGTGCTGTGAAGCCAGACA	0.488																																						ENST00000309422.2																			0				endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						c.(397-399)gtG>gtT		vascular endothelial growth factor B							136.0	123.0	128.0					11																	64004683		2201	4297	6498	SO:0001819	synonymous_variant	7423				anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	g.chr11:64004683G>T	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.399G>T	11.37:g.64004683G>T						VEGFB_ENST00000426086.2_Silent_p.V133V	p.V133V	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN			5	695	+			133					Q16528	Silent	SNP	ENST00000309422.2	37	c.399G>T	CCDS8062.1																																																																																				0.488	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377		35	120	1	0	1.04594e-18	1	1.29093e-18	35	120				
NPBWR2	2832	broad.mit.edu	37	20	62737418	62737418	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr20:62737418C>T	ENST00000369768.1	-	1	1106	c.767G>A	c.(766-768)cGg>cAg	p.R256Q		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	256					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.R256L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGTCACCTTCCGCCTGGCCTT	0.687																																						ENST00000369768.1																			1	Substitution - Missense(1)	p.R256L(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(766-768)cGg>cAg		neuropeptides B/W receptor 2							64.0	55.0	58.0					20																	62737418		2197	4296	6493	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737418C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.767G>A	20.37:g.62737418C>T	ENSP00000358783:p.Arg256Gln						p.R256Q	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	1106	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		256					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.767G>A	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962899	0.34659	.	.	ENSG00000125522	ENST00000369768	T	0.72835	-0.69	4.01	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.076945	0.50627	U	0.000119	T	0.60261	0.2255	M	0.67517	2.055	0.24184	N	0.995576	B	0.30439	0.279	B	0.20384	0.029	T	0.55970	-0.8056	10	0.56958	D	0.05	.	4.8835	0.13692	0.0:0.4897:0.0:0.5103	.	256	P48146	NPBW2_HUMAN	Q	256	ENSP00000358783:R256Q	ENSP00000358783:R256Q	R	-	2	0	NPBWR2	62207862	1.000000	0.71417	0.006000	0.13384	0.398000	0.30690	1.410000	0.34691	0.650000	0.30769	0.491000	0.48974	CGG		0.687	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		6	17	0	0	0	1	0	6	17				
TTN	7273	broad.mit.edu	37	2	179604205	179604205	+	Silent	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:179604205A>G	ENST00000591111.1	-	46	13028	c.12804T>C	c.(12802-12804)acT>acC	p.T4268T	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.T4347T|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.T4585T|TTN_ENST00000342175.6_Silent_p.T4414T|TTN_ENST00000460472.2_Silent_p.T4222T			Q8WZ42	TITIN_HUMAN	titin	0					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)			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)			CAACCTCCTCAGTACCACTTT	0.453																																						ENST00000589042.1																			0				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						c.(13753-13755)acT>acC		titin							121.0	113.0	116.0					2																	179604205		1912	4136	6048	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604205A>G	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.12804T>C	2.37:g.179604205A>G						TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.T4347T|TTN_ENST00000591111.1_Silent_p.T4268T|TTN_ENST00000342175.6_Silent_p.T4414T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T4222T|TTN_ENST00000342992.6_Intron	p.T4585T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13979	-			4268			Ig-like 26.		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	c.13755T>C																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	122	0	0	0	1	0	16	122				
MTUS2	23281	broad.mit.edu	37	13	29608146	29608146	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr13:29608146G>A	ENST00000431530.3	+	2	2418	c.2360G>A	c.(2359-2361)cGt>cAt	p.R787H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	777	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCAATGTCCCGTTTACCATCT	0.512																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2359-2361)cGt>cAt		microtubule associated tumor suppressor candidate 2							94.0	94.0	94.0					13																	29608146		2061	4205	6266	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608146G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2360G>A	13.37:g.29608146G>A	ENSP00000392057:p.Arg787His						p.R787H	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			2	2418	+			777			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2360G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451543	0.84209	.	.	ENSG00000132938	ENST00000431530	T	0.44482	0.92	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000019	T	0.65144	0.2663	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64162	-0.6472	9	.	.	.	.	18.2952	0.90143	0.0:0.0:1.0:0.0	.	777	Q5JR59	MTUS2_HUMAN	H	787	ENSP00000392057:R787H	.	R	+	2	0	MTUS2	28506146	1.000000	0.71417	0.912000	0.35992	0.768000	0.43524	6.981000	0.76166	2.543000	0.85770	0.655000	0.94253	CGT		0.512	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		7	33	0	0	0	1	0	7	33				
ALMS1	7840	broad.mit.edu	37	2	73830430	73830430	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:73830430C>T	ENST00000264448.6	+	21	12469	c.12358C>T	c.(12358-12360)Cgg>Tgg	p.R4120W	ALMS1_ENST00000409009.1_Splice_Site_p.R4078W|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4120	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGGTCCAAACGGTAAGACCA	0.448																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.e21+1		Alstrom syndrome 1							89.0	91.0	90.0					2																	73830430		2203	4300	6503	SO:0001630	splice_region_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73830430C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12359+1C>T	2.37:g.73830430C>T						ALMS1_ENST00000409009.1_Splice_Site_p.R4078_splice|ALMS1_ENST00000464408.2_3'UTR	p.R4120_splice	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			21	12469	+			4120					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Splice_Site	SNP	ENST00000264448.6	37	c.12359_splice	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612125	0.66672	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.11604	2.77;2.76	5.13	0.961	0.19638	.	0.079753	0.51477	D	0.000091	T	0.17662	0.0424	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.65010	0.922;0.931	T	0.02567	-1.1140	10	0.87932	D	0	.	4.4047	0.11404	0.4032:0.4238:0.0:0.1729	.	4078;4120	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	W	4078;4120	ENSP00000386627:R4078W;ENSP00000264448:R4120W	ENSP00000264448:R4120W	R	+	1	2	ALMS1	73683938	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	0.338000	0.19858	0.385000	0.24970	0.650000	0.86243	CGG		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	Missense_Mutation	26	108	0	0	0	1	0	26	108				
ASNSD1	54529	broad.mit.edu	37	2	190530956	190530956	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:190530956A>G	ENST00000260952.4	+	4	511	c.98A>G	c.(97-99)aAt>aGt	p.N33S	ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607690.1_3'UTR	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	33	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CGGGGACCCAATAGTAGTAAA	0.383																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(97-99)aAt>aGt		asparagine synthetase domain containing 1							123.0	122.0	122.0					2																	190530956		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190530956A>G	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.98A>G	2.37:g.190530956A>G	ENSP00000260952:p.Asn33Ser					ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607062.1_Intron	p.N33S	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	511	+			33			Glutamine amidotransferase type-2.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.98A>G	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	A	4.553	0.102678	0.08731	.	.	ENSG00000138381	ENST00000260952;ENST00000425590;ENST00000420250	T;T	0.32023	1.47;1.47	5.76	0.663	0.17885	Glutamine amidotransferase, type II (1);	0.719741	0.15373	N	0.265754	T	0.20292	0.0488	N	0.25426	0.745	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.19614	-1.0300	10	0.49607	T	0.09	-2.4855	10.239	0.43301	0.5364:0.0:0.4636:0.0	.	33	Q9NWL6	ASND1_HUMAN	S	33	ENSP00000260952:N33S;ENSP00000406790:N33S	ENSP00000260952:N33S	N	+	2	0	ASNSD1	190239201	0.001000	0.12720	0.000000	0.03702	0.339000	0.28857	1.104000	0.31074	0.155000	0.19261	-0.297000	0.09499	AAT		0.383	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		138	140	0	0	0	1	0	138	140				
PRR27	401137	broad.mit.edu	37	4	71024190	71024190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:71024190C>A	ENST00000344526.5	+	3	410	c.221C>A	c.(220-222)tCg>tAg	p.S74*	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Nonsense_Mutation_p.S74*	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		74	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGTTACCTTCGTATCCCTGG	0.473																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(220-222)tCg>tAg		chromosome 4 open reading frame 40							239.0	217.0	225.0					4																	71024190		2203	4300	6503	SO:0001587	stop_gained	401137					extracellular region		g.chr4:71024190C>A																												ENST00000344526.5:c.221C>A	4.37:g.71024190C>A	ENSP00000343172:p.Ser74*					C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Nonsense_Mutation_p.S74*	p.S74*	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	410	+			74					A8MXP0|Q6MZR6	Nonsense_Mutation	SNP	ENST00000344526.5	37	c.221C>A	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791036	0.70452	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	.	.	.	4.45	0.516	0.17019	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	1.5936	3.4854	0.07618	0.1778:0.5054:0.0:0.3168	.	.	.	.	X	74	.	ENSP00000343172:S74X	S	+	2	0	C4orf40	71058779	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.027000	0.13621	-0.054000	0.13266	0.609000	0.83330	TCG		0.473	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			31	160	1	0	4.15321e-07	1	4.51579e-07	31	160				
FRMPD4	9758	broad.mit.edu	37	X	12735636	12735636	+	Silent	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:12735636G>T	ENST00000380682.1	+	16	3197	c.2691G>T	c.(2689-2691)cgG>cgT	p.R897R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	897					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCATCTTGCGGGCTTATAGTC	0.438																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2689-2691)cgG>cgT		FERM and PDZ domain containing 4							90.0	86.0	88.0					X																	12735636		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735636G>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2691G>T	X.37:g.12735636G>T							p.R897R	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3197	+			897					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.2691G>T	CCDS35201.1																																																																																				0.438	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		30	102	1	0	9.17885e-22	1	1.15367e-21	30	102				
SPTBN2	6712	broad.mit.edu	37	11	66460751	66460751	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:66460751G>A	ENST00000533211.1	-	24	5091	c.4760C>T	c.(4759-4761)gCc>gTc	p.A1587V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1587V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1587V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1587					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCTCGCAGGGCATCCTCCAG	0.632																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4759-4761)gCc>gTc		spectrin, beta, non-erythrocytic 2							69.0	71.0	70.0					11																	66460751		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460751G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4760C>T	11.37:g.66460751G>A	ENSP00000432568:p.Ala1587Val					SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1587V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1587V	p.A1587V			O15020	SPTN2_HUMAN			24	5091	-			1587					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4760C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759357	0.89932	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.38240	1.15;1.15;1.15	4.38	3.45	0.39498	.	0.064498	0.64402	D	0.000009	T	0.57961	0.2089	M	0.83953	2.67	0.52099	D	0.999942	D	0.69078	0.997	P	0.60949	0.881	T	0.65821	-0.6075	10	0.87932	D	0	.	13.0798	0.59107	0.0:0.1634:0.8366:0.0	.	1587	O15020	SPTN2_HUMAN	V	1587	ENSP00000432568:A1587V;ENSP00000311489:A1587V;ENSP00000433593:A1587V	ENSP00000311489:A1587V	A	-	2	0	SPTBN2	66217327	0.997000	0.39634	0.993000	0.49108	0.815000	0.46073	6.424000	0.73366	1.025000	0.39708	0.462000	0.41574	GCC		0.632	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		4	111	0	0	0	1	0	4	111				
PIP	5304	broad.mit.edu	37	7	142836630	142836630	+	Silent	SNP	C	C	G	rs367785031		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:142836630C>G	ENST00000291009.3	+	4	376	c.336C>G	c.(334-336)gcC>gcG	p.A112A		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	112					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.A112A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AAATTGCAGCCGTCGTTGATG	0.463																																						ENST00000291009.3																			1	Substitution - coding silent(1)	p.A112A(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18						c.(334-336)gcC>gcG		prolactin-induced protein							152.0	143.0	146.0					7																	142836630		2203	4299	6502	SO:0001819	synonymous_variant	5304					extracellular region	actin binding	g.chr7:142836630C>G		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.336C>G	7.37:g.142836630C>G							p.A112A	NM_002652.2	NP_002643.1	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	4	376	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	112					A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	ENST00000291009.3	37	c.336C>G	CCDS34768.1																																																																																				0.463	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		24	181	0	0	0	1	0	24	181				
PCDH11X	27328	broad.mit.edu	37	X	91133749	91133749	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:91133749G>A	ENST00000373094.1	+	2	3355	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	PCDH11X_ENST00000361655.2_Missense_Mutation_p.R837H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.R837H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R837H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R837H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R837H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	837					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTAAGATGTCGCCAGGCACCA	0.448																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2509-2511)cGc>cAc		protocadherin 11 X-linked							68.0	61.0	63.0					X																	91133749		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133749G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2510G>A	X.37:g.91133749G>A	ENSP00000362186:p.Arg837His					PCDH11X_ENST00000395337.2_Missense_Mutation_p.R837H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R837H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R837H	p.R837H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3355	+			837					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2510G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	3.567	-0.088340	0.07097	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.15	-0.0754	0.13727	Protocadherin (1);	0.302267	0.36932	N	0.002331	T	0.22166	0.0534	L	0.35542	1.07	0.32742	N	0.50756	B;B;B;B;B;B;B;B	0.28350	0.06;0.174;0.174;0.174;0.174;0.208;0.06;0.06	B;B;B;B;B;B;B;B	0.26969	0.031;0.045;0.045;0.045;0.045;0.075;0.019;0.019	T	0.08310	-1.0728	10	0.72032	D	0.01	.	5.1632	0.15071	0.3122:0.0:0.5572:0.1306	.	837;837;837;837;837;837;837;837	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	837	ENSP00000378746:R837H;ENSP00000362186:R837H;ENSP00000362189:R837H;ENSP00000355040:R837H;ENSP00000362180:R837H;ENSP00000423762:R837H;ENSP00000355105:R837H;ENSP00000384758:R837H;ENSP00000298274:R837H	ENSP00000298274:R837H	R	+	2	0	PCDH11X	91020405	1.000000	0.71417	0.706000	0.30403	0.066000	0.16364	2.541000	0.45735	-0.571000	0.06014	-1.119000	0.02030	CGC		0.448	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		19	115	0	0	0	1	0	19	115				
MAML2	84441	broad.mit.edu	37	11	95826425	95826425	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:95826425A>G	ENST00000524717.1	-	2	2054	c.770T>C	c.(769-771)cTg>cCg	p.L257P		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	257					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CATGTTAAACAGGCCATTGCC	0.478			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(769-771)cTg>cCg		mastermind-like 2 (Drosophila)							107.0	101.0	103.0					11																	95826425		1916	4133	6049	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95826425A>G	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.770T>C	11.37:g.95826425A>G	ENSP00000434552:p.Leu257Pro						p.L257P	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			2	2054	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	257					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.770T>C	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.315542	0.40996	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.49720	0.77;0.77	5.42	5.42	0.78866	.	0.447784	0.22917	N	0.054077	T	0.30135	0.0755	N	0.14661	0.345	0.80722	D	1	P	0.44195	0.828	B	0.36885	0.235	T	0.09975	-1.0650	10	0.27785	T	0.31	-0.0253	15.4582	0.75333	1.0:0.0:0.0:0.0	.	257	Q8IZL2	MAML2_HUMAN	P	257	ENSP00000434552:L257P;ENSP00000412394:L257P	ENSP00000412394:L257P	L	-	2	0	MAML2	95466073	1.000000	0.71417	0.892000	0.35008	0.969000	0.65631	6.345000	0.72995	2.050000	0.60909	0.374000	0.22700	CTG		0.478	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			30	53	0	0	0	1	0	30	53				
FAT4	79633	broad.mit.edu	37	4	126371057	126371057	+	Silent	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:126371057C>A	ENST00000394329.3	+	9	8899	c.8886C>A	c.(8884-8886)tcC>tcA	p.S2962S	FAT4_ENST00000335110.5_Silent_p.S1260S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2962	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTAAACCTTCCTTAATTAGTG	0.333																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(8884-8886)tcC>tcA		FAT atypical cadherin 4							66.0	68.0	68.0					4																	126371057		2203	4299	6502	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371057C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8886C>A	4.37:g.126371057C>A						FAT4_ENST00000335110.5_Silent_p.S1260S	p.S2962S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	8899	+			2962			Cadherin 28.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.8886C>A	CCDS3732.3																																																																																				0.333	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	64	1	0	1.12685e-05	1	1.19673e-05	9	64				
PKHD1L1	93035	broad.mit.edu	37	8	110478858	110478858	+	Missense_Mutation	SNP	A	A	G	rs377063079		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:110478858A>G	ENST00000378402.5	+	50	8569	c.8465A>G	c.(8464-8466)cAt>cGt	p.H2822R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2822					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCCTTCTCATTGTACTCAG	0.438										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8464-8466)cAt>cGt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							94.0	86.0	89.0					8																	110478858		1957	4164	6121	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110478858A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8465A>G	8.37:g.110478858A>G	ENSP00000367655:p.His2822Arg	HNSCC(38;0.096)					p.H2822R	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		50	8569	+			2822					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8465A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693042	0.48202	.	.	ENSG00000205038	ENST00000378402	D	0.85773	-2.03	6.16	5.01	0.66863	.	0.056861	0.64402	N	0.000001	T	0.82042	0.4951	L	0.60455	1.87	0.37892	D	0.930734	B	0.27416	0.178	B	0.30943	0.122	T	0.79017	-0.1975	10	0.33141	T	0.24	.	10.5638	0.45161	0.9247:0.0:0.0753:0.0	.	2822	Q86WI1	PKHL1_HUMAN	R	2822	ENSP00000367655:H2822R	ENSP00000367655:H2822R	H	+	2	0	PKHD1L1	110548034	0.999000	0.42202	0.833000	0.33012	0.784000	0.44337	3.923000	0.56469	1.153000	0.42468	-0.263000	0.10527	CAT		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		5	20	0	0	0	1	0	5	20				
L1CAM	3897	broad.mit.edu	37	X	153130126	153130126	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:153130126G>T	ENST00000370060.1	-	24	3269	c.3080C>A	c.(3079-3081)gCg>gAg	p.A1027E	L1CAM_ENST00000361699.4_Missense_Mutation_p.A1027E|L1CAM_ENST00000370057.3_Missense_Mutation_p.A1027E|L1CAM_ENST00000543994.1_Missense_Mutation_p.A1029E|L1CAM_ENST00000361981.3_Missense_Mutation_p.A1022E|L1CAM_ENST00000538883.1_Missense_Mutation_p.A1029E|L1CAM_ENST00000370055.1_Missense_Mutation_p.A1022E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1027	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTCACCCGCTGTGGCTGA	0.567																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3079-3081)gCg>gAg		L1 cell adhesion molecule							113.0	111.0	111.0					X																	153130126		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130126G>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3080C>A	X.37:g.153130126G>T	ENSP00000359077:p.Ala1027Glu					L1CAM_ENST00000361699.4_Missense_Mutation_p.A1027E|L1CAM_ENST00000370057.3_Missense_Mutation_p.A1027E|L1CAM_ENST00000370055.1_Missense_Mutation_p.A1022E|L1CAM_ENST00000361981.3_Missense_Mutation_p.A1022E|L1CAM_ENST00000543994.1_Missense_Mutation_p.A1029E|L1CAM_ENST00000538883.1_Missense_Mutation_p.A1029E	p.A1027E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			24	3269	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1027			Fibronectin type-III 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3080C>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407300	0.62399	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60299	0.2;0.21;0.2;0.22;0.24;0.24;0.2	5.17	4.29	0.51040	Fibronectin, type III (1);	0.560059	0.15748	N	0.246573	T	0.40398	0.1115	N	0.19112	0.55	0.09310	N	1	B;P;B	0.34780	0.017;0.468;0.009	B;B;B	0.36766	0.017;0.232;0.008	T	0.19844	-1.0293	10	0.30854	T	0.27	.	7.716	0.28704	0.1143:0.0:0.8857:0.0	.	1022;1027;1027	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	E	1027;1029;1027;1029;1022;1022;1027	ENSP00000359077:A1027E;ENSP00000438430:A1029E;ENSP00000359074:A1027E;ENSP00000439645:A1029E;ENSP00000354712:A1022E;ENSP00000359072:A1022E;ENSP00000355380:A1027E	ENSP00000355380:A1027E	A	-	2	0	L1CAM	152783320	0.226000	0.23696	0.014000	0.15608	0.872000	0.50106	3.177000	0.50871	2.147000	0.66899	0.529000	0.55759	GCG		0.567	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		33	142	1	0	1.22384e-17	1	1.48377e-17	33	142				
PAPPA2	60676	broad.mit.edu	37	1	176525772	176525772	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:176525772G>A	ENST00000367662.3	+	2	1478	c.314G>A	c.(313-315)aGc>aAc	p.S105N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S105N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	105					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)			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						AATGCTGTGAGCCTTGTTCCC	0.567																																						ENST00000367662.3																			0				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						c.(313-315)aGc>aAc		pappalysin 2							122.0	117.0	119.0					1																	176525772		2025	4174	6199	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525772G>A	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.314G>A	1.37:g.176525772G>A	ENSP00000356634:p.Ser105Asn					PAPPA2_ENST00000367661.3_Missense_Mutation_p.S105N	p.S105N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1478	+			105					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.314G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	9.844	1.191905	0.21954	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30448	4.8;1.53	4.52	1.57	0.23409	.	0.251051	0.29838	N	0.011074	T	0.17577	0.0422	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.18429	-1.0337	10	0.25751	T	0.34	-1.7101	7.2799	0.26306	0.2981:0.0:0.7019:0.0	.	105;105	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	105	ENSP00000356634:S105N;ENSP00000356633:S105N	ENSP00000356633:S105N	S	+	2	0	PAPPA2	174792395	0.124000	0.22315	0.002000	0.10522	0.118000	0.20060	0.853000	0.27777	0.363000	0.24346	-1.020000	0.02445	AGC		0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	175	0	0	0	1	0	23	175				
GPX5	2880	broad.mit.edu	37	6	28499613	28499613	+	Silent	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:28499613C>A	ENST00000412168.2	+	3	389	c.300C>A	c.(298-300)ccC>ccA	p.P100P	GPX5_ENST00000469384.1_Intron|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	100					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGGGCTTTCCCTGCAACCAAT	0.468																																						ENST00000412168.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(298-300)ccC>ccA		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)						210.0	196.0	201.0					6																	28499613		2203	4300	6503	SO:0001819	synonymous_variant	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28499613C>A	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.300C>A	6.37:g.28499613C>A						GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Intron	p.P100P	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN			3	389	+			100					A1A4Y0	Silent	SNP	ENST00000412168.2	37	c.300C>A	CCDS4652.1																																																																																				0.468	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			80	233	1	0	1.10345e-40	1	1.39975e-40	80	233				
SLC6A17	388662	broad.mit.edu	37	1	110716721	110716721	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:110716721G>A	ENST00000331565.4	+	4	1056	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	191					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GAGCGTGGCAGGCAAGTATGG	0.547																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.e4+1		solute carrier family 6 (neutral amino acid transporter), member 17							80.0	72.0	75.0					1																	110716721		2203	4300	6503	SO:0001630	splice_region_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110716721G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.571+1G>A	1.37:g.110716721G>A							p.V191_splice	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	4	1056	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	191					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Splice_Site	SNP	ENST00000331565.4	37	c.571_splice	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469816	0.63625	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74526	-0.85	5.78	4.86	0.63082	.	.	.	.	.	T	0.62344	0.2420	N	0.17631	0.505	0.34789	D	0.735533	P	0.38129	0.619	P	0.54590	0.756	T	0.65865	-0.6064	9	0.34782	T	0.22	.	10.8571	0.46804	0.0674:0.0:0.8006:0.1319	.	191	Q9H1V8	S6A17_HUMAN	M	191	ENSP00000330199:V191M	ENSP00000330199:V191M	V	+	1	0	SLC6A17	110518244	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	2.382000	0.44345	1.570000	0.49709	0.655000	0.94253	GTG		0.547	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280	Missense_Mutation	16	43	0	0	0	1	0	16	43				
NLRC4	58484	broad.mit.edu	37	2	32460556	32460556	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:32460556A>G	ENST00000404025.2	-	9	3184	c.2696T>C	c.(2695-2697)cTg>cCg	p.L899P	NLRC4_ENST00000360906.5_Missense_Mutation_p.L899P|NLRC4_ENST00000402280.1_Missense_Mutation_p.L899P|NLRC4_ENST00000342905.6_Missense_Mutation_p.L234P			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	899					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGTTTCAACAGGCTGCTCAG	0.498																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2695-2697)cTg>cCg		NLR family, CARD domain containing 4							141.0	133.0	135.0					2																	32460556		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32460556A>G	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2696T>C	2.37:g.32460556A>G	ENSP00000385090:p.Leu899Pro					NLRC4_ENST00000360906.5_Missense_Mutation_p.L899P|NLRC4_ENST00000342905.6_Missense_Mutation_p.L234P|NLRC4_ENST00000402280.1_Missense_Mutation_p.L899P	p.L899P			Q9NPP4	NLRC4_HUMAN			9	3184	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		899					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2696T>C	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610713	0.46527	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.53	1.99	0.26369	.	0.000000	0.28219	N	0.016153	T	0.49047	0.1534	L	0.54323	1.7	0.35545	D	0.803396	B;P	0.37330	0.166;0.59	B;B	0.34093	0.057;0.175	T	0.58255	-0.7668	9	0.66056	D	0.02	-0.3342	4.554	0.12128	0.6987:0.1961:0.1052:0.0	.	234;899	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	P	899;899;234;899	ENSP00000354159:L899P;ENSP00000385428:L899P;ENSP00000339666:L234P;ENSP00000385090:L899P	ENSP00000339666:L234P	L	-	2	0	NLRC4	32314060	0.128000	0.22383	0.016000	0.15963	0.040000	0.13550	1.879000	0.39618	0.780000	0.33566	0.460000	0.39030	CTG		0.498	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		139	67	0	0	0	1	0	139	67				
DUSP22	56940	broad.mit.edu	37	6	348269	348269	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:348269C>A	ENST00000344450.5	+	6	873	c.430C>A	c.(430-432)Cat>Aat	p.H144N	DUSP22_ENST00000419235.2_Missense_Mutation_p.H144N|DUSP22_ENST00000604971.1_Missense_Mutation_p.H41N|DUSP22_ENST00000603453.1_Missense_Mutation_p.H41N|DUSP22_ENST00000605315.1_Missense_Mutation_p.H41N|DUSP22_ENST00000605863.1_Missense_Mutation_p.H41N|DUSP22_ENST00000605035.1_Missense_Mutation_p.H41N	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	144					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCATGAGGTCCATCAGGTAAG	0.582																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(121-123)Cat>Aat		dual specificity phosphatase 22							96.0	87.0	90.0					6																	348269		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348269C>A	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.430C>A	6.37:g.348269C>A	ENSP00000345281:p.His144Asn					DUSP22_ENST00000419235.2_Missense_Mutation_p.H144N|DUSP22_ENST00000603453.1_Missense_Mutation_p.H41N|DUSP22_ENST00000605315.1_Missense_Mutation_p.H41N|DUSP22_ENST00000344450.5_Missense_Mutation_p.H144N|DUSP22_ENST00000605035.1_Missense_Mutation_p.H41N|DUSP22_ENST00000605863.1_Missense_Mutation_p.H41N	p.H41N			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	1234	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	144					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.121C>A	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.299|8.299	0.819534|0.819534	0.16607|0.16607	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000344450|ENST00000419235	T|.	0.04083|.	3.71|.	5.82|5.82	4.95|4.95	0.65309|0.65309	.|.	0.450895|.	0.24801|.	N|.	0.035493|.	T|T	0.19886|0.19886	0.0478|0.0478	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B;B;B|.	0.10296|.	0.0;0.001;0.003|.	B;B;B|.	0.08055|.	0.003;0.003;0.003|.	T|T	0.15093|0.15093	-1.0449|-1.0449	10|5	0.17369|.	T|.	0.5|.	.|.	7.3505|7.3505	0.26689|0.26689	0.0:0.6684:0.1786:0.1531|0.0:0.6684:0.1786:0.1531	.|.	144;101;144|.	Q9NRW4-2;B3KSA8;Q9NRW4|.	.;.;DUS22_HUMAN|.	N|Q	144|81	ENSP00000345281:H144N|.	ENSP00000345281:H144N|.	H|P	+|+	1|2	0|0	DUSP22|DUSP22	293269|293269	0.005000|0.005000	0.15991|0.15991	0.331000|0.331000	0.25455|0.25455	0.895000|0.895000	0.52256|0.52256	0.760000|0.760000	0.26475|0.26475	1.455000|1.455000	0.47813|0.47813	0.655000|0.655000	0.94253|0.94253	CAT|CCA		0.582	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		11	80	1	0	3.07112e-06	1	3.31294e-06	11	80				
ATRN	8455	broad.mit.edu	37	20	3575126	3575126	+	Splice_Site	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr20:3575126C>A	ENST00000262919.5	+	20	3391	c.3323C>A	c.(3322-3324)cCa>cAa	p.P1108Q	ATRN_ENST00000446916.2_Splice_Site_p.P1108Q	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1108	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCTCTGCAGCATGCAAGTGC	0.473																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.e20-1		attractin							61.0	52.0	55.0					20																	3575126		2203	4300	6503	SO:0001630	splice_region_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3575126C>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3323-1C>A	20.37:g.3575126C>A						ATRN_ENST00000446916.2_Splice_Site_p.P1108_splice	p.P1108_splice	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			20	3391	+			1108			Laminin EGF-like 1.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Splice_Site	SNP	ENST00000262919.5	37	c.3322_splice	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710000	0.48517	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.63417	-0.04;-0.04	5.95	5.01	0.66863	EGF-like, laminin (2);	0.051178	0.85682	D	0.000000	T	0.78729	0.4329	M	0.86268	2.805	0.80722	D	1	D;D	0.65815	0.995;0.992	P;P	0.60609	0.806;0.877	T	0.82047	-0.0651	9	.	.	.	.	14.8221	0.70082	0.0:0.9305:0.0:0.0695	.	1108;1108	O75882;O75882-2	ATRN_HUMAN;.	Q	1108;1108;1034	ENSP00000262919:P1108Q;ENSP00000416587:P1108Q	.	P	+	2	0	ATRN	3523126	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	3.852000	0.55934	1.526000	0.49068	0.650000	0.86243	CCA		0.473	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	Missense_Mutation	3	31	1	0	0.004672	1	0.00470635	3	31				
HIST1H2BO	8348	broad.mit.edu	37	6	27861564	27861564	+	Silent	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:27861564C>T	ENST00000303806.4	+	1	362	c.324C>T	c.(322-324)gcC>gcT	p.A108A	HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	108					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										GGGAGCTGGCCAAGCACGCCG	0.637																																						ENST00000303806.4																			0											c.(322-324)gcC>gcT		histone cluster 1, H2bo							46.0	50.0	48.0					6																	27861564		2203	4299	6502	SO:0001819	synonymous_variant	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861564C>T	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.324C>T	6.37:g.27861564C>T							p.A108A	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	362	+			108					Q3KPI7|Q8TCV6	Silent	SNP	ENST00000303806.4	37	c.324C>T	CCDS4640.1																																																																																				0.637	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		6	91	0	0	0	1	0	6	91				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	12	0	0	0	1	0	9	12				
STAB2	55576	broad.mit.edu	37	12	104131454	104131454	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:104131454C>T	ENST00000388887.2	+	53	5797	c.5593C>T	c.(5593-5595)Cgg>Tgg	p.R1865W		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATTGTGCAGCGGGAGCTCTT	0.483																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5593-5595)Cgg>Tgg		stabilin 2							89.0	89.0	89.0					12																	104131454		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104131454C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5593C>T	12.37:g.104131454C>T	ENSP00000373539:p.Arg1865Trp						p.R1865W	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			53	5797	+			1865			FAS1 6.			Missense_Mutation	SNP	ENST00000388887.2	37	c.5593C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525335	0.64747	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90955	-2.76	5.44	4.53	0.55603	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.83953	2.67	0.45594	D	0.998536	D	0.89917	1.0	D	0.97110	1.0	D	0.95213	0.8327	10	0.59425	D	0.04	.	13.5732	0.61858	0.2827:0.7172:0.0:0.0	.	1865	Q8WWQ8	STAB2_HUMAN	W	1865;552	ENSP00000373539:R1865W	ENSP00000258495:R552W	R	+	1	2	STAB2	102655584	1.000000	0.71417	0.996000	0.52242	0.806000	0.45545	1.437000	0.34991	1.241000	0.43820	0.462000	0.41574	CGG		0.483	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			15	81	0	0	0	1	0	15	81				
TRIM55	84675	broad.mit.edu	37	8	67062073	67062073	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:67062073T>C	ENST00000315962.4	+	5	1170	c.797T>C	c.(796-798)aTt>aCt	p.I266T	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.I266T|TRIM55_ENST00000276573.7_Missense_Mutation_p.I266T	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	266					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GAGTCAGGAATTCAGTTTATG	0.418																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(796-798)aTt>aCt		tripartite motif containing 55							119.0	118.0	118.0					8																	67062073		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67062073T>C	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.797T>C	8.37:g.67062073T>C	ENSP00000323913:p.Ile266Thr					TRIM55_ENST00000353317.5_Missense_Mutation_p.I266T|TRIM55_ENST00000276573.7_Missense_Mutation_p.I266T|TRIM55_ENST00000350034.4_Intron	p.I266T	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		5	1170	+		Lung NSC(129;0.138)|all_lung(136;0.221)	266					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.797T>C	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965226	0.74131	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.30981	1.52;1.57;1.51	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.72353	2.195	0.80722	D	1	P;P;B	0.51351	0.864;0.944;0.33	P;P;B	0.52909	0.713;0.621;0.293	T	0.33343	-0.9872	10	0.19147	T	0.46	.	15.898	0.79350	0.0:0.0:0.0:1.0	.	266;266;266	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	T	266	ENSP00000323913:I266T;ENSP00000297348:I266T;ENSP00000276573:I266T	ENSP00000276573:I266T	I	+	2	0	TRIM55	67224627	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.008000	0.88588	2.150000	0.67090	0.528000	0.53228	ATT		0.418	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		19	95	0	0	0	1	0	19	95				
OR4K13	390433	broad.mit.edu	37	14	20502685	20502685	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:20502685G>A	ENST00000315693.2	-	1	234	c.233C>T	c.(232-234)aCc>aTc	p.T78I	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CATCTTAGGGGTAGCAAAAGA	0.458																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(232-234)aCc>aTc		olfactory receptor, family 4, subfamily K, member 13							102.0	97.0	98.0					14																	20502685		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502685G>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.233C>T	14.37:g.20502685G>A	ENSP00000319322:p.Thr78Ile						p.T78I	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	234	-	all_cancers(95;0.00108)		78					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.233C>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	9.179	1.022997	0.19433	.	.	ENSG00000176253	ENST00000315693	T	0.01599	4.74	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40222	U	0.001160	T	0.02083	0.0065	L	0.42632	1.34	0.09310	N	1	P	0.38048	0.616	B	0.36666	0.23	T	0.44283	-0.9338	10	0.66056	D	0.02	.	8.296	0.31986	0.1143:0.0:0.8857:0.0	.	78	Q8NH42	OR4KD_HUMAN	I	78	ENSP00000319322:T78I	ENSP00000319322:T78I	T	-	2	0	OR4K13	19572525	0.000000	0.05858	0.008000	0.14137	0.014000	0.08584	0.549000	0.23329	1.870000	0.54199	0.536000	0.68110	ACC		0.458	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			20	52	0	0	0	1	0	20	52				
CXorf22	170063	broad.mit.edu	37	X	35989810	35989810	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:35989810C>T	ENST00000297866.5	+	12	2144	c.2078C>T	c.(2077-2079)gCa>gTa	p.A693V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	693										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTGTCTTCAGCAGCAAATTCA	0.433																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2077-2079)gCa>gTa		chromosome X open reading frame 22							45.0	40.0	42.0					X																	35989810		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989810C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2078C>T	X.37:g.35989810C>T	ENSP00000297866:p.Ala693Val						p.A693V	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			12	2144	+			693					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2078C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514057	0.27123	.	.	ENSG00000165164	ENST00000297866	T	0.14266	2.52	5.72	-7.12	0.01537	.	2.930880	0.00982	N	0.003392	T	0.07548	0.0190	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.17433	0.018	T	0.24048	-1.0171	10	0.31617	T	0.26	-15.3379	2.031	0.03529	0.4949:0.1785:0.0962:0.2304	.	693	Q6ZTR5	CX022_HUMAN	V	693	ENSP00000297866:A693V	ENSP00000297866:A693V	A	+	2	0	CXorf22	35899731	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.191000	0.01246	-1.228000	0.02568	0.600000	0.82982	GCA		0.433	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		5	33	0	0	0	1	0	5	33				
ITM2A	9452	broad.mit.edu	37	X	78616623	78616623	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:78616623T>G	ENST00000373298.2	-	6	898	c.755A>C	c.(754-756)aAc>aCc	p.N252T	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Missense_Mutation_p.N208T	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	252						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AATAAATTCGTTGGGGAAGTG	0.353																																						ENST00000434584.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(622-624)aAc>aCc		integral membrane protein 2A							64.0	50.0	55.0					X																	78616623		2203	4299	6502	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78616623T>G	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.755A>C	X.37:g.78616623T>G	ENSP00000362395:p.Asn252Thr					ITM2A_ENST00000373298.2_Missense_Mutation_p.N252T|ITM2A_ENST00000469541.1_5'UTR	p.N208T	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN			5	959	-			252			BRICHOS.		B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.623A>C	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.625912	0.66901	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.19806	2.12;2.12	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	L	0.52573	1.65	0.51767	D	0.99993	D;D	0.71674	0.998;0.993	D;P	0.66602	0.945;0.782	T	0.10474	-1.0628	10	0.72032	D	0.01	-11.2834	10.3943	0.44192	0.0:0.0:0.0:1.0	.	208;252	B4E062;O43736	.;ITM2A_HUMAN	T	252;208	ENSP00000362395:N252T;ENSP00000415533:N208T	ENSP00000362395:N252T	N	-	2	0	ITM2A	78503279	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	3.117000	0.50407	1.464000	0.47987	0.417000	0.27973	AAC		0.353	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		6	61	0	0	0	1	0	6	61				
ADCK3	56997	broad.mit.edu	37	1	227174271	227174271	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:227174271G>A	ENST00000366779.1	+	20	4548	c.1777G>A	c.(1777-1779)Gtc>Atc	p.V593I	ADCK3_ENST00000366778.1_Missense_Mutation_p.V541I|ADCK3_ENST00000366777.3_Missense_Mutation_p.V593I|ADCK3_ENST00000458507.2_Missense_Mutation_p.V314I|ADCK3_ENST00000433743.2_Missense_Mutation_p.V267I|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	593					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCTGATTCCCGTCATGCTGAG	0.592																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(1777-1779)Gtc>Atc		aarF domain containing kinase 3							140.0	131.0	134.0					1																	227174271		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227174271G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1777G>A	1.37:g.227174271G>A	ENSP00000355741:p.Val593Ile					ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.V541I|ADCK3_ENST00000366777.3_Missense_Mutation_p.V593I|ADCK3_ENST00000433743.2_Missense_Mutation_p.V267I|ADCK3_ENST00000366775.1_Missense_Mutation_p.V438I|ADCK3_ENST00000366776.1_Missense_Mutation_p.V518I|ADCK3_ENST00000458507.2_Missense_Mutation_p.V314I	p.V593I			Q8NI60	ADCK3_HUMAN			20	4548	+			593					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.1777G>A	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354568	0.41700	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.75154	-0.74;-0.73;-0.74;-0.91;-0.51;-0.9;-0.79	5.87	-2.61	0.06171	.	0.262756	0.44285	N	0.000476	T	0.61862	0.2381	L	0.39326	1.205	0.48632	D	0.99968	B;B	0.12630	0.002;0.006	B;B	0.08055	0.003;0.003	T	0.42599	-0.9442	10	0.33940	T	0.23	-17.1446	14.5678	0.68191	0.5445:0.0:0.4555:0.0	.	267;593	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	I	593;541;593;518;314;438;544;267	ENSP00000355741:V593I;ENSP00000355740:V541I;ENSP00000355739:V593I;ENSP00000355738:V518I;ENSP00000403704:V314I;ENSP00000355737:V438I;ENSP00000404550:V267I	ENSP00000355737:V438I	V	+	1	0	ADCK3	225240894	0.022000	0.18835	0.723000	0.30687	0.983000	0.72400	0.304000	0.19228	-0.803000	0.04415	-0.137000	0.14449	GTC		0.592	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		19	48	0	0	0	1	0	19	48				
NME8	51314	broad.mit.edu	37	7	37890314	37890314	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:37890314G>T	ENST00000199447.4	+	5	547	c.175G>T	c.(175-177)Gac>Tac	p.D59Y	NME8_ENST00000440017.1_Missense_Mutation_p.D59Y|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	59	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ACTGAACGAAGACGAAATTCT	0.318																																						ENST00000199447.4																			0											c.(175-177)Gac>Tac		NME/NM23 family member 8							102.0	112.0	108.0					7																	37890314		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37890314G>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.175G>T	7.37:g.37890314G>T	ENSP00000199447:p.Asp59Tyr					EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.D59Y	p.D59Y	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			5	547	+			59			Thioredoxin.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.175G>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755332	0.49362	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.24538	1.85;1.85	5.11	5.11	0.69529	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.412527	0.19959	N	0.102260	T	0.66107	0.2756	H	0.95850	3.73	0.52099	D	0.999945	D	0.89917	1.0	D	0.83275	0.996	T	0.77778	-0.2460	10	0.87932	D	0	-19.8956	17.6708	0.88217	0.0:0.0:1.0:0.0	.	59	Q8N427	TXND3_HUMAN	Y	59	ENSP00000199447:D59Y;ENSP00000397063:D59Y	ENSP00000199447:D59Y	D	+	1	0	TXNDC3	37856839	1.000000	0.71417	0.997000	0.53966	0.106000	0.19336	6.736000	0.74811	2.539000	0.85634	0.561000	0.74099	GAC		0.318	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		20	131	1	0	0.000132079	1	0.000136051	20	131				
TLL1	7092	broad.mit.edu	37	4	166935659	166935659	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:166935659C>A	ENST00000061240.2	+	8	1636	c.989C>A	c.(988-990)aCc>aAc	p.T330N	TLL1_ENST00000513213.1_Missense_Mutation_p.T330N|TLL1_ENST00000507499.1_Missense_Mutation_p.T330N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	330	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGTCAGCGAACCCGTCTAAGC	0.463																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(988-990)aCc>aAc		tolloid-like 1							248.0	221.0	230.0					4																	166935659		2203	4299	6502	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935659C>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.989C>A	4.37:g.166935659C>A	ENSP00000061240:p.Thr330Asn					TLL1_ENST00000507499.1_Missense_Mutation_p.T330N|TLL1_ENST00000513213.1_Missense_Mutation_p.T330N	p.T330N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1636	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	330			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.989C>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756264	0.49362	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.62941	-0.01;-0.01;-0.01	5.17	4.33	0.51752	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.68906	0.3052	L	0.35644	1.08	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.87578	0.998;0.997	T	0.65269	-0.6209	10	0.27082	T	0.32	.	13.729	0.62776	0.0:0.9249:0.0:0.0751	.	330;330	E9PD25;O43897	.;TLL1_HUMAN	N	330	ENSP00000061240:T330N;ENSP00000426082:T330N;ENSP00000422937:T330N	ENSP00000061240:T330N	T	+	2	0	TLL1	167155109	1.000000	0.71417	0.319000	0.25293	0.095000	0.18619	6.000000	0.70678	1.165000	0.42670	0.557000	0.71058	ACC		0.463	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			5	213	1	0	0.000602214	1	0.000615697	5	213				
CDH3	1001	broad.mit.edu	37	16	68710361	68710361	+	Silent	SNP	C	C	T	rs201122541		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr16:68710361C>T	ENST00000264012.4	+	3	778	c.234C>T	c.(232-234)ggC>ggT	p.G78G	CDH3_ENST00000429102.2_Silent_p.G78G|CDH3_ENST00000581171.1_Silent_p.G23G	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	78					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGCGGAATGGCGAGACAGTCC	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23267	0.0		0.0	False		,,,				2504	0.0					ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(232-234)ggC>ggT		cadherin 3, type 1, P-cadherin (placental)							111.0	89.0	96.0					16																	68710361		2198	4300	6498	SO:0001819	synonymous_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68710361C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.234C>T	16.37:g.68710361C>T						CDH3_ENST00000581171.1_Silent_p.G23G|CDH3_ENST00000429102.2_Silent_p.G78G	p.G78G	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	3	778	+		Ovarian(137;0.0564)	78					B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.234C>T	CCDS10868.1																																																																																				0.517	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		11	45	0	0	0	1	0	11	45				
LRRK2	120892	broad.mit.edu	37	12	40651059	40651059	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:40651059G>A	ENST00000298910.7	+	12	1356	c.1298G>A	c.(1297-1299)aGa>aAa	p.R433K	LRRK2_ENST00000343742.2_Missense_Mutation_p.R433K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	433					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTAATTTCAGAAAAATACTG	0.274																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(1297-1299)aGa>aAa		leucine-rich repeat kinase 2							49.0	51.0	51.0					12																	40651059		2202	4294	6496	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40651059G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1298G>A	12.37:g.40651059G>A	ENSP00000298910:p.Arg433Lys					LRRK2_ENST00000343742.2_Missense_Mutation_p.R433K	p.R433K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			12	1356	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	433					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1298G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811590	0.90707	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.35048	1.33;1.33	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.61703	1.905	0.47698	D	0.999495	D;D	0.89917	0.997;1.0	D;D	0.83275	0.978;0.996	T	0.57665	-0.7772	10	0.59425	D	0.04	.	19.4308	0.94765	0.0:0.0:1.0:0.0	.	433;433	E9PC85;Q5S007	.;LRRK2_HUMAN	K	433	ENSP00000341930:R433K;ENSP00000298910:R433K	ENSP00000298910:R433K	R	+	2	0	LRRK2	38937326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.607000	0.74163	2.885000	0.99019	0.655000	0.94253	AGA		0.274	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		33	64	0	0	0	1	0	33	64				
ZNF107	51427	broad.mit.edu	37	7	64167752	64167752	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:64167752A>T	ENST00000395391.1	+	4	2445	c.1070A>T	c.(1069-1071)aAa>aTa	p.K357I	ZNF107_ENST00000423627.1_Missense_Mutation_p.K357I|ZNF107_ENST00000344930.3_Missense_Mutation_p.K357I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAACCCTACAAATGTAAAGAA	0.348																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1069-1071)aAa>aTa		zinc finger protein 107							30.0	33.0	32.0					7																	64167752		2174	4283	6457	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167752A>T	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1070A>T	7.37:g.64167752A>T	ENSP00000378789:p.Lys357Ile					ZNF107_ENST00000344930.3_Missense_Mutation_p.K357I|ZNF107_ENST00000423627.1_Missense_Mutation_p.K357I	p.K357I			Q9UII5	ZN107_HUMAN			4	2445	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	357						Missense_Mutation	SNP	ENST00000395391.1	37	c.1070A>T	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	13.45	2.241818	0.39598	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.32988	1.43;1.43;1.43	1.27	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33030	0.0849	L	0.58810	1.83	0.20403	N	0.999907	B	0.32350	0.366	B	0.43728	0.429	T	0.43718	-0.9374	8	.	.	.	.	5.4669	0.16648	0.4114:0.5886:0.0:0.0	.	357	Q9UII5	ZN107_HUMAN	I	357	ENSP00000343443:K357I;ENSP00000400037:K357I;ENSP00000378789:K357I	.	K	+	2	0	ZNF107	63805187	0.000000	0.05858	0.237000	0.24090	0.955000	0.61496	-0.961000	0.03845	-0.453000	0.07076	0.260000	0.18958	AAA		0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		23	41	0	0	0	1	0	23	41				
MRPL2	51069	broad.mit.edu	37	6	43023876	43023876	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:43023876C>T	ENST00000388752.3	-	4	887	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	CUL7_ENST00000535468.1_5'Flank|CUL7_ENST00000265348.3_5'Flank|MRPL2_ENST00000230413.5_Missense_Mutation_p.E155K|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	155					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TGCATGTTTTCTGTGGCGATG	0.547																																						ENST00000388752.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(463-465)Gaa>Aaa		mitochondrial ribosomal protein L2							153.0	138.0	143.0					6																	43023876		2203	4300	6503	SO:0001583	missense	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43023876C>T	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.463G>A	6.37:g.43023876C>T	ENSP00000373404:p.Glu155Lys					MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.E155K	p.E155K	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	4	887	-		Ovarian(999;0.0014)	155					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	ENST00000388752.3	37	c.463G>A	CCDS34454.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232861	0.79688	.	.	ENSG00000112651	ENST00000388752;ENST00000230413	T	0.52295	0.67	5.85	5.85	0.93711	Nucleic acid-binding, OB-fold-like (1);Ribosomal Proteins L2, RNA binding domain (1);Nucleic acid-binding, OB-fold (1);	0.050435	0.85682	D	0.000000	T	0.50034	0.1592	L	0.48174	1.505	0.80722	D	1	D;P	0.67145	0.996;0.851	D;P	0.71184	0.972;0.579	T	0.29427	-1.0012	10	0.11794	T	0.64	-17.0914	18.3382	0.90295	0.0:1.0:0.0:0.0	.	155;155	B4DVE2;Q5T653	.;RM02_HUMAN	K	155	ENSP00000373404:E155K	ENSP00000230413:E155K	E	-	1	0	MRPL2	43131854	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	4.492000	0.60334	2.767000	0.95098	0.655000	0.94253	GAA		0.547	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			12	94	0	0	0	1	0	12	94				
ENPP1	5167	broad.mit.edu	37	6	132198300	132198300	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:132198300C>T	ENST00000360971.2	+	18	1912	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	631	Linker. {ECO:0000250}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGTAACCCTTCGGTAAGTATC	0.428																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.e18+1		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						66.0	48.0	54.0					6																	132198300		2203	4300	6503	SO:0001630	splice_region_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132198300C>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1893+1C>T	6.37:g.132198300C>T							p.S631_splice	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	18	1912	+	Breast(56;0.0505)		631					Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Splice_Site	SNP	ENST00000360971.2	37	c.1893_splice	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640417	0.29157	.	.	ENSG00000197594	ENST00000360971	T	0.73575	-0.76	5.46	2.7	0.31948	.	1.369710	0.04485	N	0.378533	T	0.36082	0.0954	N	0.16567	0.415	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.15983	-1.0418	10	0.25751	T	0.34	0.1096	7.0259	0.24940	0.0:0.6607:0.1259:0.2133	.	631;261	P22413;Q7Z3P5	ENPP1_HUMAN;.	L	631	ENSP00000354238:S631L	ENSP00000354238:S631L	S	+	2	0	ENPP1	132239993	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.468000	0.22051	0.260000	0.21731	-0.262000	0.10625	TCG		0.428	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		Missense_Mutation	5	23	0	0	0	1	0	5	23				
AHNAK2	113146	broad.mit.edu	37	14	105407146	105407146	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:105407146T>C	ENST00000333244.5	-	7	14761	c.14642A>G	c.(14641-14643)gAg>gGg	p.E4881G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4881						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TAGGTCTCCCTCAGGAACTGC	0.502																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14641-14643)gAg>gGg		AHNAK nucleoprotein 2							38.0	40.0	39.0					14																	105407146		1928	4137	6065	SO:0001583	missense	113146					nucleus		g.chr14:105407146T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14642A>G	14.37:g.105407146T>C	ENSP00000353114:p.Glu4881Gly					AHNAK2_ENST00000557457.1_Intron	p.E4881G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14761	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4881					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14642A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.523589	0.27299	.	.	ENSG00000185567	ENST00000333244	T	0.00675	5.88	3.76	-5.21	0.02815	.	.	.	.	.	T	0.00468	0.0015	N	0.24115	0.695	0.09310	N	1	B	0.33044	0.395	B	0.29176	0.099	T	0.45483	-0.9258	9	0.28530	T	0.3	.	0.5255	0.00620	0.2272:0.1524:0.2324:0.3879	.	4881	Q8IVF2	AHNK2_HUMAN	G	4881	ENSP00000353114:E4881G	ENSP00000353114:E4881G	E	-	2	0	AHNAK2	104478191	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	1.083000	0.30815	-0.703000	0.05049	0.460000	0.39030	GAG		0.502	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	41	0	0	0	1	0	10	41				
EPX	8288	broad.mit.edu	37	17	56281637	56281637	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:56281637C>A	ENST00000225371.5	+	12	2111	c.2001C>A	c.(1999-2001)agC>agA	p.S667R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	667					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AGGCCCTGAGCAGAATTTCCT	0.502																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1999-2001)agC>agA		eosinophil peroxidase							114.0	100.0	105.0					17																	56281637		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56281637C>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.2001C>A	17.37:g.56281637C>A	ENSP00000225371:p.Ser667Arg						p.S667R	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			12	2111	+			667					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.2001C>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.011142	0.00422	.	.	ENSG00000121053	ENST00000225371	T	0.70869	-0.52	5.65	-11.3	0.00108	.	1.636570	0.02940	N	0.140286	T	0.31136	0.0787	N	0.00446	-1.495	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.49204	-0.8964	10	0.13470	T	0.59	6.8434	10.6863	0.45846	0.45:0.0687:0.43:0.0513	.	667	P11678	PERE_HUMAN	R	667	ENSP00000225371:S667R	ENSP00000225371:S667R	S	+	3	2	EPX	53636636	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-5.707000	0.00103	-5.401000	0.00015	-0.176000	0.13171	AGC		0.502	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		17	109	1	0	9.7654e-05	1	0.000101353	17	109				
PAPPA2	60676	broad.mit.edu	37	1	176525773	176525773	+	Silent	SNP	C	C	T	rs374087257		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:176525773C>T	ENST00000367662.3	+	2	1479	c.315C>T	c.(313-315)agC>agT	p.S105S	PAPPA2_ENST00000367661.3_Silent_p.S105S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	105					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)			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						ATGCTGTGAGCCTTGTTCCCC	0.567																																						ENST00000367662.3																			0				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						c.(313-315)agC>agT		pappalysin 2		C	,	0,4048		0,0,2024	122.0	117.0	119.0		315,315	-1.8	0.0	1		119	1,8343		0,1,4171	no	coding-synonymous,coding-synonymous	PAPPA2	NM_020318.2,NM_021936.2	,	0,1,6195	TT,TC,CC		0.012,0.0,0.0081	,	105/1792,105/828	176525773	1,12391	2024	4172	6196	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525773C>T	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.315C>T	1.37:g.176525773C>T						PAPPA2_ENST00000367661.3_Silent_p.S105S	p.S105S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1479	+			105					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.315C>T	CCDS41438.1																																																																																				0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	176	0	0	0	1	0	23	176				
SFI1	9814	broad.mit.edu	37	22	32007791	32007791	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr22:32007791C>A	ENST00000400288.2	+	24	2560	c.2455C>A	c.(2455-2457)Ctc>Atc	p.L819I	SFI1_ENST00000414585.1_Missense_Mutation_p.L666I|SFI1_ENST00000443011.1_Missense_Mutation_p.L666I|SFI1_ENST00000400289.1_Missense_Mutation_p.L737I|SFI1_ENST00000540643.1_Missense_Mutation_p.L764I|SFI1_ENST00000443326.1_Missense_Mutation_p.L737I|SFI1_ENST00000432498.1_Missense_Mutation_p.L788I	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	819					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGCACAGAGACTCAGCCGGAC	0.637																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2362-2364)Ctc>Atc		Sfi1 homolog, spindle assembly associated (yeast)							44.0	53.0	50.0					22																	32007791		2122	4256	6378	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32007791C>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2455C>A	22.37:g.32007791C>A	ENSP00000383145:p.Leu819Ile					SFI1_ENST00000540643.1_Missense_Mutation_p.L764I|SFI1_ENST00000400288.2_Missense_Mutation_p.L819I|SFI1_ENST00000400289.1_Missense_Mutation_p.L737I|SFI1_ENST00000443326.1_Missense_Mutation_p.L737I|SFI1_ENST00000443011.1_Missense_Mutation_p.L666I|SFI1_ENST00000414585.1_Missense_Mutation_p.L666I	p.L788I	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			23	2755	+			819					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.2362C>A	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109598	0.56398	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.23348	2.47;2.48;2.33;2.48;2.36;2.33;2.4;1.91	5.37	5.37	0.77165	.	0.246530	0.39475	N	0.001357	T	0.30417	0.0764	N	0.08118	0	0.38199	D	0.940147	D;D;D;D;D	0.65815	0.995;0.986;0.99;0.995;0.961	D;P;D;P;P	0.72982	0.936;0.782;0.979;0.885;0.689	T	0.37267	-0.9713	10	0.48119	T	0.1	.	14.6162	0.68549	0.0:1.0:0.0:0.0	.	764;725;737;788;819	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	I	788;764;737;666;666;737;819;402	ENSP00000402679:L788I;ENSP00000443025:L764I;ENSP00000416469:L737I;ENSP00000397148:L666I;ENSP00000401199:L666I;ENSP00000383146:L737I;ENSP00000383145:L819I;ENSP00000398871:L402I	ENSP00000383145:L819I	L	+	1	0	SFI1	30337791	0.996000	0.38824	0.849000	0.33467	0.049000	0.14656	3.855000	0.55957	2.535000	0.85469	0.561000	0.74099	CTC		0.637	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		4	26	1	0	0.014758	1	0.014758	4	26				
HAL	3034	broad.mit.edu	37	12	96384170	96384170	+	Splice_Site	SNP	C	C	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:96384170C>G	ENST00000261208.3	-	10	1224		c.e10+1		HAL_ENST00000538703.1_Splice_Site|HAL_ENST00000551562.1_Splice_Site|HAL_ENST00000541929.1_Splice_Site	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase						biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACGAGTCTTACGTATTTAGCA	0.522																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.e10+1		histidine ammonia-lyase	L-Histidine(DB00117)						126.0	102.0	110.0					12																	96384170		2203	4300	6503	SO:0001630	splice_region_variant	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96384170C>G		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.855+1G>C	12.37:g.96384170C>G						HAL_ENST00000538703.1_Splice_Site|HAL_ENST00000541929.1_Splice_Site|HAL_ENST00000551562.1_Splice_Site		NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			10	1224	-								B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Splice_Site	SNP	ENST00000261208.3	37		CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078100	0.55753	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2797	0.94048	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HAL	94908301	1.000000	0.71417	0.996000	0.52242	0.557000	0.35523	7.335000	0.79234	2.573000	0.86826	0.561000	0.74099	.		0.522	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		Intron	30	51	0	0	0	1	0	30	51				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	150	0	0	0	1	0	7	150				
NLRP10	338322	broad.mit.edu	37	11	7982173	7982173	+	Missense_Mutation	SNP	G	G	A	rs201964741		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:7982173G>A	ENST00000328600.2	-	2	1147	c.986C>T	c.(985-987)aCg>aTg	p.T329M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	329	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCTCATCCGTGAAATAGGA	0.507																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(985-987)aCg>aTg		NLR family, pyrin domain containing 10							111.0	107.0	109.0					11																	7982173		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982173G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.986C>T	11.37:g.7982173G>A	ENSP00000327763:p.Thr329Met						p.T329M	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1147	-			329			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.986C>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	0.436	-0.901084	0.02472	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	5.11	-1.83	0.07833	NACHT nucleoside triphosphatase (1);	1.062840	0.07450	N	0.898896	T	0.61862	0.2381	N	0.17764	0.52	0.09310	N	1	B	0.30114	0.269	B	0.22753	0.041	T	0.49862	-0.8894	10	0.48119	T	0.1	.	4.1458	0.10215	0.3143:0.0:0.4336:0.2521	.	329	Q86W26	NAL10_HUMAN	M	329	ENSP00000327763:T329M	ENSP00000327763:T329M	T	-	2	0	NLRP10	7938749	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.401000	0.01048	-0.250000	0.09555	-0.169000	0.13324	ACG		0.507	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		39	105	0	0	0	1	0	39	105				
MUC17	140453	broad.mit.edu	37	7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:100680623C>T	ENST00000306151.4	+	3	5990	c.5926C>T	c.(5926-5928)Cca>Tca	p.P1976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1976	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCCCAGC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5926-5928)Cca>Tca		mucin 17, cell surface associated							276.0	267.0	270.0					7																	100680623		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680623C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5926C>T	7.37:g.100680623C>T	ENSP00000302716:p.Pro1976Ser						p.P1976S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5990	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1976			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5926C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.947	-0.217494	0.06101	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.512	0.512	0.16994	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.48647	-0.9017	9	0.16420	T	0.52	.	6.9006	0.24281	0.0:0.9998:0.0:2.0E-4	.	1976	Q685J3	MUC17_HUMAN	S	1976	ENSP00000302716:P1976S	ENSP00000302716:P1976S	P	+	1	0	MUC17	100467343	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.589000	0.02104	0.551000	0.29008	0.134000	0.15878	CCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	689	0	0	0	1	0	6	689				
ANKEF1	63926	broad.mit.edu	37	20	10018979	10018979	+	Silent	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr20:10018979C>T	ENST00000378380.3	+	2	359	c.30C>T	c.(28-30)aaC>aaT	p.N10N	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.N10N|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	10							calcium ion binding (GO:0005509)										GACTTGAGAACTTACAGATCT	0.383																																						ENST00000378380.3																			0											c.(28-30)aaC>aaT		ankyrin repeat and EF-hand domain containing 1							62.0	61.0	62.0					20																	10018979		2203	4300	6503	SO:0001819	synonymous_variant	63926							g.chr20:10018979C>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.30C>T	20.37:g.10018979C>T						SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.N10N	p.N10N	NM_198798.1	NP_942093.1					2	359	+								B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	c.30C>T	CCDS13108.1																																																																																				0.383	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		6	64	0	0	0	1	0	6	64				
AHCTF1	25909	broad.mit.edu	37	1	247027358	247027358	+	Silent	SNP	C	C	T	rs373954182		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:247027358C>T	ENST00000391829.2	-	27	3531	c.3408G>A	c.(3406-3408)caG>caA	p.Q1136Q	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.Q1145Q|AHCTF1_ENST00000366508.1_Silent_p.Q1171Q			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1136	Disordered. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGAGCTTTGCTGAATAAACT	0.453																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3511-3513)caG>caA		AT hook containing transcription factor 1							61.0	68.0	65.0					1																	247027358		2203	4297	6500	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247027358C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3408G>A	1.37:g.247027358C>T						AHCTF1_ENST00000326225.3_Silent_p.Q1145Q|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.Q1136Q	p.Q1171Q			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		27	3649	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1136			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.3513G>A																																																																																					0.453	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		16	64	0	0	0	1	0	16	64				
TRGC2	6967	broad.mit.edu	37	7	38288928	38288928	+	RNA	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:38288928C>T	ENST00000436911.2	-	0	245							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TGTTCTTTGTCCAGTGACTCT	0.403																																						ENST00000436911.2																			0																				253.0	230.0	237.0					7																	38288928		1920	4125	6045			6967							g.chr7:38288928C>T	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38288928C>T														0	245	-									RNA	SNP	ENST00000436911.2	37																																																																																						0.403	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		61	92	0	0	0	1	0	61	92				
ADORA3	140	broad.mit.edu	37	1	112031544	112031544	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:112031544C>A	ENST00000369716.4	-	3	693	c.560G>T	c.(559-561)tGg>tTg	p.W187L	ADORA3_ENST00000369717.4_Missense_Mutation_p.W106L|RNU6-792P_ENST00000363490.1_RNA	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GCCTCGGCACCAGTATTTGGG	0.517																																						ENST00000369716.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(559-561)tGg>tTg		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						238.0	215.0	223.0					1																	112031544		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112031544C>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.560G>T	1.37:g.112031544C>A	ENSP00000358730:p.Trp187Leu					ADORA3_ENST00000369717.4_Missense_Mutation_p.W106L	p.W187L	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	3	693	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	0					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000369716.4	37	c.560G>T	CCDS838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.93|19.93	3.917583|3.917583	0.73098|0.73098	.|.	.|.	ENSG00000121933|ENSG00000121933	ENST00000414219|ENST00000369717;ENST00000369716	.|T;T	.|0.52526	.|0.66;0.66	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.47455	.|D	.|0.000225	T|T	0.61874|0.61874	0.2382|0.2382	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.979;0.998	.|P;P	.|0.62014	.|0.801;0.897	T|T	0.67783|0.67783	-0.5581|-0.5581	5|10	.|0.56958	.|D	.|0.05	-12.3781|-12.3781	13.8473|13.8473	0.63474|0.63474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106;187	.|Q5QNY7;P33765-2	.|.;.	C|L	47|106;187	.|ENSP00000358731:W106L;ENSP00000358730:W187L	.|ENSP00000358730:W187L	G|W	-|-	1|2	0|0	ADORA3|ADORA3	111833067|111833067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.850000|0.850000	0.48378|0.48378	3.126000|3.126000	0.50477|0.50477	2.386000|2.386000	0.81285|0.81285	0.462000|0.462000	0.41574|0.41574	GGT|TGG		0.517	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		14	77	1	0	9.31168e-06	1	9.96641e-06	14	77				
GPLD1	2822	broad.mit.edu	37	6	24467490	24467490	+	Silent	SNP	G	G	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:24467490G>C	ENST00000230036.1	-	8	668	c.558C>G	c.(556-558)gtC>gtG	p.V186V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	186					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTAGATCTTTGACTGGCACAT	0.368																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(556-558)gtC>gtG		glycosylphosphatidylinositol specific phospholipase D1							89.0	86.0	87.0					6																	24467490		2202	4299	6501	SO:0001819	synonymous_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24467490G>C	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.558C>G	6.37:g.24467490G>C						GPLD1_ENST00000474784.1_5'UTR	p.V186V	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			8	668	-			186					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	c.558C>G	CCDS4553.1																																																																																				0.368	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		20	56	0	0	0	1	0	20	56				
AHNAK	79026	broad.mit.edu	37	11	62287002	62287002	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:62287002T>C	ENST00000378024.4	-	5	15161	c.14887A>G	c.(14887-14889)Att>Gtt	p.I4963V	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4963					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCGATGTTAATATCTGGGCTG	0.443																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14887-14889)Att>Gtt		AHNAK nucleoprotein							92.0	90.0	90.0					11																	62287002		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287002T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14887A>G	11.37:g.62287002T>C	ENSP00000367263:p.Ile4963Val					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.I4963V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15161	-		Melanoma(852;0.155)	4963					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14887A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.163143	0.00318	.	.	ENSG00000124942	ENST00000378024	T	0.00902	5.56	4.62	-7.08	0.01558	.	1.444180	0.05030	N	0.474417	T	0.00695	0.0023	N	0.16833	0.445	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.49184	-0.8966	10	0.11485	T	0.65	-0.7266	9.7976	0.40744	0.0:0.4104:0.3748:0.2148	.	4963	Q09666	AHNK_HUMAN	V	4963	ENSP00000367263:I4963V	ENSP00000367263:I4963V	I	-	1	0	AHNAK	62043578	0.000000	0.05858	0.211000	0.23655	0.085000	0.17905	-1.811000	0.01728	-1.095000	0.03050	0.387000	0.25754	ATT		0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		43	136	0	0	0	1	0	43	136				
VPS13D	55187	broad.mit.edu	37	1	12422808	12422808	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:12422808A>G	ENST00000358136.3	+	51	10304	c.10174A>G	c.(10174-10176)Att>Gtt	p.I3392V	VPS13D_ENST00000356315.4_Missense_Mutation_p.I3367V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGTCGATACATTGATACCTG	0.413																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10174-10176)Att>Gtt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							207.0	202.0	204.0					1																	12422808		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12422808A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10174A>G	1.37:g.12422808A>G	ENSP00000350854:p.Ile3392Val					VPS13D_ENST00000356315.4_Missense_Mutation_p.I3367V	p.I3392V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10304	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3391						Missense_Mutation	SNP	ENST00000358136.3	37	c.10174A>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670322	0.47677	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.29142	1.58;1.58	5.6	5.6	0.85130	Vacuolar protein sorting-associated protein (1);	0.052095	0.64402	D	0.000002	T	0.23249	0.0562	N	0.22421	0.69	0.80722	D	1	B;B	0.32543	0.183;0.375	B;B	0.34652	0.117;0.187	T	0.06162	-1.0842	10	0.17369	T	0.5	.	15.8035	0.78473	1.0:0.0:0.0:0.0	.	3367;3391	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	3367;3392	ENSP00000348666:I3367V;ENSP00000350854:I3392V	ENSP00000348666:I3367V	I	+	1	0	VPS13D	12345395	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	4.408000	0.59761	2.130000	0.65690	0.482000	0.46254	ATT		0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		35	185	0	0	0	1	0	35	185				
AGL	178	broad.mit.edu	37	1	100353650	100353650	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:100353650A>G	ENST00000294724.4	+	21	3276	c.2798A>G	c.(2797-2799)tAt>tGt	p.Y933C	AGL_ENST00000361915.3_Missense_Mutation_p.Y933C|AGL_ENST00000370165.3_Missense_Mutation_p.Y933C|AGL_ENST00000370163.3_Missense_Mutation_p.Y933C|AGL_ENST00000361302.3_Missense_Mutation_p.Y917C|AGL_ENST00000361522.4_Missense_Mutation_p.Y916C|AGL_ENST00000370161.2_Missense_Mutation_p.Y917C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	933					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCCCTTAAATATGCAGGTCTT	0.418																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2797-2799)tAt>tGt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							124.0	118.0	120.0					1																	100353650		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100353650A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2798A>G	1.37:g.100353650A>G	ENSP00000294724:p.Tyr933Cys					AGL_ENST00000370163.3_Missense_Mutation_p.Y933C|AGL_ENST00000361915.3_Missense_Mutation_p.Y933C|AGL_ENST00000361302.3_Missense_Mutation_p.Y917C|AGL_ENST00000370165.3_Missense_Mutation_p.Y933C|AGL_ENST00000370161.2_Missense_Mutation_p.Y917C|AGL_ENST00000361522.4_Missense_Mutation_p.Y916C	p.Y933C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	21	3276	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	933					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2798A>G	CCDS759.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091568	0.76756	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.74966	0.3786	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.82432	-0.0460	10	0.87932	D	0	.	15.6059	0.76672	1.0:0.0:0.0:0.0	.	916;917;933	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	C	933;933;933;933;917;917;916	ENSP00000355106:Y933C;ENSP00000359184:Y933C;ENSP00000359182:Y933C;ENSP00000294724:Y933C;ENSP00000354971:Y917C;ENSP00000359180:Y917C;ENSP00000354635:Y916C	ENSP00000294724:Y933C	Y	+	2	0	AGL	100126238	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.391000	0.90177	2.142000	0.66516	0.445000	0.29226	TAT		0.418	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		18	41	0	0	0	1	0	18	41				
ZFP62	643836	broad.mit.edu	37	5	180277793	180277793	+	Silent	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:180277793G>A	ENST00000502412.1	-	2	759	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000512132.1_Silent_p.F201F|ZFP62_ENST00000359141.6_Silent_p.F174F	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTATAATTGAAGGATTTTC	0.468																																						ENST00000359141.6																			0				NS(1)|endometrium(2)|pancreas(1)	4						c.(520-522)ttC>ttT		ZFP62 zinc finger protein							18.0	18.0	18.0					5																	180277793		692	1591	2283	SO:0001819	synonymous_variant	643836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr5:180277793G>A	AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.702C>T	5.37:g.180277793G>A						ZFP62_ENST00000502412.1_Silent_p.F234F|ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000512132.1_Silent_p.F201F	p.F174F	NM_152283.4	NP_689496.4	Q8NB50	ZFP62_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	841	-	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	234					B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Silent	SNP	ENST00000502412.1	37	c.522C>T	CCDS54955.1																																																																																				0.468	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368386.2	NM_152283		3	19	0	0	0	1	0	3	19				
MAGEA10	4109	broad.mit.edu	37	X	151303172	151303172	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:151303172C>A	ENST00000370323.4	-	4	1237	c.921G>T	c.(919-921)agG>agT	p.R307S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.R307S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	307	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCATCTTCCTAATTTCAG	0.498																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(919-921)agG>agT		melanoma antigen family A, 10							135.0	127.0	130.0					X																	151303172		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303172C>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.921G>T	X.37:g.151303172C>A	ENSP00000359347:p.Arg307Ser					MAGEA10_ENST00000244096.3_Missense_Mutation_p.R307S|RP11-1007I13.4_ENST00000509345.2_RNA	p.R307S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	1237	-	Acute lymphoblastic leukemia(192;6.56e-05)		307			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.921G>T	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.217097	0.01542	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.03496	3.91;3.91	2.6	1.71	0.24356	.	0.395926	0.27008	N	0.021385	T	0.00468	0.0015	N	0.00006	-3.19	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.45440	-0.9261	10	0.02654	T	1	.	6.462	0.21962	0.0:0.3261:0.6739:0.0	.	307	P43363	MAGAA_HUMAN	S	307	ENSP00000359347:R307S;ENSP00000244096:R307S	ENSP00000244096:R307S	R	-	3	2	MAGEA10	151053828	0.001000	0.12720	0.001000	0.08648	0.442000	0.32017	-0.170000	0.09897	0.496000	0.27904	0.292000	0.19580	AGG		0.498	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		32	191	1	0	9.65021e-13	1	1.11099e-12	32	191				
ABCC11	85320	broad.mit.edu	37	16	48210931	48210931	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr16:48210931T>A	ENST00000394747.1	-	24	3791	c.3442A>T	c.(3442-3444)Atg>Ttg	p.M1148L	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.M1148L|ABCC11_ENST00000353782.5_Missense_Mutation_p.M1148L|ABCC11_ENST00000356608.2_Missense_Mutation_p.M1148L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1148	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CTGTATTTCATGTGATAATCC	0.532																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3442-3444)Atg>Ttg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							189.0	155.0	167.0					16																	48210931		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48210931T>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3442A>T	16.37:g.48210931T>A	ENSP00000378230:p.Met1148Leu					ABCC11_ENST00000356608.2_Missense_Mutation_p.M1148L|ABCC11_ENST00000394748.1_Missense_Mutation_p.M1148L|ABCC11_ENST00000353782.5_Missense_Mutation_p.M1148L|ABCC11_ENST00000565329.1_5'UTR	p.M1148L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			24	3791	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1148			ABC transporter 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3442A>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.534796	0.45073	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.34	2.99	0.34606	ABC transporter-like (1);	0.046101	0.85682	N	0.000000	T	0.68348	0.2991	N	0.01505	-0.83	0.80722	D	1	B;B	0.14012	0.009;0.001	B;B	0.15484	0.013;0.003	T	0.57159	-0.7859	10	0.08599	T	0.76	-23.0571	10.6817	0.45819	0.0:0.0:0.3127:0.6873	.	1148;1148	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	1148	ENSP00000311326:M1148L;ENSP00000349017:M1148L;ENSP00000378231:M1148L;ENSP00000378230:M1148L	ENSP00000311326:M1148L	M	-	1	0	ABCC11	46768432	1.000000	0.71417	0.997000	0.53966	0.723000	0.41478	3.933000	0.56545	0.305000	0.22832	0.459000	0.35465	ATG		0.532	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		44	16	0	0	0	1	0	44	16				
ASH2L	9070	broad.mit.edu	37	8	37978466	37978466	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:37978466G>T	ENST00000343823.6	+	10	1273	c.964G>T	c.(964-966)Gct>Tct	p.A322S	RP11-90P5.4_ENST00000519081.1_RNA|ASH2L_ENST00000545394.1_Missense_Mutation_p.A183S|ASH2L_ENST00000521652.1_Missense_Mutation_p.A228S|RP11-90P5.5_ENST00000476186.2_RNA|ASH2L_ENST00000428278.2_Missense_Mutation_p.A228S|ASH2L_ENST00000250635.7_Missense_Mutation_p.A228S	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	322					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TTTGTTTTCTGCTCAGCGCCT	0.468											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(964-966)Gct>Tct		ash2 (absent, small, or homeotic)-like (Drosophila)							152.0	141.0	145.0					8																	37978466		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37978466G>T	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.964G>T	8.37:g.37978466G>T	ENSP00000340896:p.Ala322Ser		OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	874	ASH2L_ENST00000545394.1_Missense_Mutation_p.A183S|ASH2L_ENST00000521652.1_Missense_Mutation_p.A228S|ASH2L_ENST00000428278.2_Missense_Mutation_p.A228S|ASH2L_ENST00000250635.7_Missense_Mutation_p.A228S	p.A322S	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			10	1273	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	322					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.964G>T	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700831	0.30142	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.76186	-0.04;-0.99;-1.0;-1.0;-0.99	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	N	0.04746	-0.17	0.80722	D	1	B;B	0.24043	0.066;0.096	B;B	0.22386	0.039;0.039	T	0.55379	-0.8150	10	0.07644	T	0.81	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	228;322	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	S	322;228;183;228;228	ENSP00000340896:A322S;ENSP00000250635:A228S;ENSP00000443606:A183S;ENSP00000395310:A228S;ENSP00000430259:A228S	ENSP00000250635:A228S	A	+	1	0	ASH2L	38097623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.795000	0.85887	2.660000	0.90430	0.655000	0.94253	GCT		0.468	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		20	44	1	0	1.50039e-11	1	1.69879e-11	20	44				
HYAL1	3373	broad.mit.edu	37	3	50339652	50339652	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr3:50339652T>C	ENST00000266031.4	-	1	1351	c.736A>G	c.(736-738)Atc>Gtc	p.I246V	HYAL1_ENST00000395144.2_Missense_Mutation_p.I246V|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.I64V|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Missense_Mutation_p.I246V|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.I246V			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	246					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCATGTAGATGCTGGGATAG	0.617																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(736-738)Atc>Gtc		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						60.0	56.0	58.0					3																	50339652		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50339652T>C	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.736A>G	3.37:g.50339652T>C	ENSP00000266031:p.Ile246Val					HYAL1_ENST00000395143.2_Missense_Mutation_p.I246V|HYAL1_ENST00000395144.2_Missense_Mutation_p.I246V|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Missense_Mutation_p.I64V|HYAL1_ENST00000320295.8_Missense_Mutation_p.I246V	p.I246V			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	1351	-			246					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.736A>G	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652857	0.47362	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.46	5.46	0.80206	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	L	0.45285	1.41	0.80722	D	1	B;P;B	0.42161	0.054;0.772;0.083	B;B;B	0.37480	0.047;0.251;0.105	T	0.04579	-1.0941	10	0.18276	T	0.48	-28.8815	14.3718	0.66846	0.0:0.0:0.0:1.0	.	246;246;246	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	V	246;246;246;246;64	ENSP00000378576:I246V;ENSP00000266031:I246V;ENSP00000346068:I246V;ENSP00000378575:I246V;ENSP00000393358:I64V	ENSP00000266031:I246V	I	-	1	0	HYAL1	50314656	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	6.133000	0.71682	2.090000	0.63153	0.533000	0.62120	ATC		0.617	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			16	17	0	0	0	1	0	16	17				
CLIP1	6249	broad.mit.edu	37	12	122825429	122825429	+	Silent	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:122825429C>T	ENST00000540338.1	-	10	2363	c.2322G>A	c.(2320-2322)ttG>ttA	p.L774L	CLIP1_ENST00000302528.7_Silent_p.L763L|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000537178.1_Silent_p.L728L|CLIP1_ENST00000358808.2_Silent_p.L763L|CLIP1_ENST00000545889.1_Intron			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	774					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CATCAAGATCCAAGAGCTTTT	0.408																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2287-2289)ttG>ttA		CAP-GLY domain containing linker protein 1							190.0	178.0	182.0					12																	122825429		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825429C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2322G>A	12.37:g.122825429C>T						CLIP1_ENST00000302528.7_Silent_p.L763L|CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000540338.1_Silent_p.L774L|CLIP1_ENST00000537178.1_Silent_p.L728L|CLIP1_ENST00000361654.4_Intron	p.L763L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2443	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		774					A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.2289G>A	CCDS58285.1																																																																																				0.408	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		34	134	0	0	0	1	0	34	134				
CCDC67	159989	broad.mit.edu	37	11	93141395	93141395	+	Splice_Site	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:93141395A>G	ENST00000298050.3	+	12	1426		c.e12-1		CCDC67_ENST00000525646.1_Splice_Site|AP004242.1_ENST00000408638.1_RNA	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67						cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTATTCTCTAGAGTATGGAC	0.353																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e12-1		coiled-coil domain containing 67							32.0	28.0	29.0					11																	93141395		1822	4077	5899	SO:0001630	splice_region_variant	159989							g.chr11:93141395A>G	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1327-1A>G	11.37:g.93141395A>G						CCDC67_ENST00000525646.1_Splice_Site		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			12	1426	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)						Q8NEF1|Q96LL7	Splice_Site	SNP	ENST00000298050.3	37		CCDS44707.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420176	0.62622	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000525646	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5632	0.68156	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC67	92781043	1.000000	0.71417	0.972000	0.41901	0.887000	0.51463	5.259000	0.65485	2.371000	0.80710	0.533000	0.62120	.		0.353	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645	Intron	7	12	0	0	0	1	0	7	12				
SHANK1	50944	broad.mit.edu	37	19	51219708	51219708	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr19:51219708T>C	ENST00000293441.1	-	2	301	c.283A>G	c.(283-285)Acc>Gcc	p.T95A	SHANK1_ENST00000391814.1_Missense_Mutation_p.T95A|SHANK1_ENST00000359082.3_Missense_Mutation_p.T95A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	95					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCCAGATGGTGGCATCGGGG	0.632																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(283-285)Acc>Gcc		SH3 and multiple ankyrin repeat domains 1							56.0	58.0	57.0					19																	51219708		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219708T>C	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.283A>G	19.37:g.51219708T>C	ENSP00000293441:p.Thr95Ala					SHANK1_ENST00000359082.3_Missense_Mutation_p.T95A|SHANK1_ENST00000391814.1_Missense_Mutation_p.T95A	p.T95A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	301	-		all_neural(266;0.057)	95					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.283A>G	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	t	8.613	0.889591	0.17540	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.17854	2.25;2.25;2.25	2.81	2.81	0.32909	.	0.089576	0.41294	U	0.000909	T	0.14960	0.0361	M	0.69823	2.125	0.44619	D	0.997597	B	0.28900	0.227	B	0.18871	0.023	T	0.04565	-1.0942	10	0.22706	T	0.39	.	6.1381	0.20245	0.0:0.1313:0.0:0.8687	.	95	Q9Y566	SHAN1_HUMAN	A	95	ENSP00000293441:T95A;ENSP00000351984:T95A;ENSP00000375690:T95A	ENSP00000293441:T95A	T	-	1	0	SHANK1	55911520	0.993000	0.37304	1.000000	0.80357	0.029000	0.11900	1.869000	0.39519	1.295000	0.44724	0.370000	0.22315	ACC		0.632	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		6	39	0	0	0	1	0	6	39				
SPATS2L	26010	broad.mit.edu	37	2	201305466	201305466	+	Silent	SNP	C	C	A	rs370049321		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:201305466C>A	ENST00000358677.5	+	8	994	c.747C>A	c.(745-747)tcC>tcA	p.S249S	SPATS2L_ENST00000409755.3_Silent_p.S279S|SPATS2L_ENST00000360760.5_Silent_p.S180S|SPATS2L_ENST00000409385.1_Silent_p.S189S|SPATS2L_ENST00000409151.1_Silent_p.S257S|SPATS2L_ENST00000409140.3_Silent_p.S249S|SPATS2L_ENST00000409988.3_Silent_p.S249S|SPATS2L_ENST00000409718.1_Silent_p.S249S|SPATS2L_ENST00000451764.2_Silent_p.S249S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	249						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGGATAGTTCCGTGAAGAAGA	0.408																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(745-747)tcC>tcA		spermatogenesis associated, serine-rich 2-like							93.0	89.0	90.0					2																	201305466		1913	4130	6043	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201305466C>A	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.747C>A	2.37:g.201305466C>A						SPATS2L_ENST00000409755.3_Silent_p.S279S|SPATS2L_ENST00000409718.1_Silent_p.S249S|SPATS2L_ENST00000360760.5_Silent_p.S180S|SPATS2L_ENST00000409385.1_Silent_p.S189S|SPATS2L_ENST00000409140.3_Silent_p.S249S|SPATS2L_ENST00000358677.4_Silent_p.S249S|SPATS2L_ENST00000409151.1_Silent_p.S257S|SPATS2L_ENST00000451764.2_Silent_p.S249S	p.S249S	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			8	1270	+			249					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.747C>A	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825546	0.16749	.	.	ENSG00000196141	ENST00000366118	.	.	.	6.03	-12.1	0.00011	.	.	.	.	.	T	0.42200	0.1192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66031	-0.6024	4	.	.	.	-12.2223	6.2553	0.20870	0.0902:0.4879:0.1986:0.2233	.	.	.	.	Q	32	.	.	P	+	2	0	SPATS2L	201013711	0.000000	0.05858	0.002000	0.10522	0.983000	0.72400	-6.996000	0.00047	-5.625000	0.00011	-0.940000	0.02684	CCG		0.408	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		17	24	1	0	6.49762e-13	1	7.54385e-13	17	24				
PPFIBP2	8495	broad.mit.edu	37	11	7674313	7674313	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:7674313C>T	ENST00000299492.4	+	24	2883	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S689L|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S674L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S720L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	832					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TTCGATGAATCGACGGACTAC	0.473																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2494-2496)tCg>tTg		PTPRF interacting protein, binding protein 2 (liprin beta 2)							126.0	128.0	127.0					11																	7674313		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7674313C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2495C>T	11.37:g.7674313C>T	ENSP00000299492:p.Ser832Leu					PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S674L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S720L|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S689L	p.S832L	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	24	2883	+			832					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.2495C>T	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182534	0.78677	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000528883;ENST00000530181	T;T;T;T	0.32023	1.89;1.48;1.89;1.47	5.92	5.92	0.95590	.	0.101586	0.44285	D	0.000479	T	0.50786	0.1636	M	0.70275	2.135	0.46901	D	0.999241	D;D;D;D;D	0.76494	0.999;0.988;0.988;0.993;0.998	P;P;P;P;P	0.58721	0.844;0.467;0.467;0.567;0.77	T	0.33929	-0.9849	10	0.30854	T	0.27	-8.5497	17.8152	0.88630	0.0:1.0:0.0:0.0	.	720;720;674;689;832	E9PK77;B7Z433;E9PP16;E9PMU1;Q8ND30	.;.;.;.;LIPB2_HUMAN	L	832;173;674;720;689	ENSP00000299492:S832L;ENSP00000436498:S674L;ENSP00000435469:S720L;ENSP00000437321:S689L	ENSP00000299492:S832L	S	+	2	0	PPFIBP2	7630889	1.000000	0.71417	0.970000	0.41538	0.934000	0.57294	5.496000	0.66918	2.804000	0.96469	0.655000	0.94253	TCG		0.473	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		31	209	0	0	0	1	0	31	209				
SLC34A1	6569	broad.mit.edu	37	5	176812989	176812989	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:176812989C>T	ENST00000324417.5	+	3	202	c.111C>T	c.(109-111)gtC>gtT	p.V37V	SLC34A1_ENST00000512593.1_Splice_Site_p.V37V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	37					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCCCTAGTCCTACACAGGA	0.692																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.e3-1		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							43.0	48.0	46.0					5																	176812989		2203	4300	6503	SO:0001630	splice_region_variant	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176812989C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.110-1C>T	5.37:g.176812989C>T						SLC34A1_ENST00000512593.1_Splice_Site_p.V37_splice	p.V37_splice	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	202	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	37					B4DPE3	Splice_Site	SNP	ENST00000324417.5	37	c.109_splice	CCDS4418.1																																																																																				0.692	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052	Silent	7	46	0	0	0	1	0	7	46				
ERBB3	2065	broad.mit.edu	37	12	56480395	56480395	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr12:56480395A>G	ENST00000267101.3	+	4	942	c.502A>G	c.(502-504)Agg>Ggg	p.R168G	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.R109G	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	168					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGACATCGTGAGGGACCGAGA	0.498																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(502-504)Agg>Ggg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							285.0	229.0	248.0					12																	56480395		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56480395A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.502A>G	12.37:g.56480395A>G	ENSP00000267101:p.Arg168Gly					ERBB3_ENST00000415288.2_Missense_Mutation_p.R109G|ERBB3_ENST00000450146.2_Intron	p.R168G	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		4	942	+			168					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.502A>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.049555	0.55218	.	.	ENSG00000065361	ENST00000549061;ENST00000267101;ENST00000394099;ENST00000549672;ENST00000415288	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.81	0.27	0.15635	.	0.080414	0.52532	D	0.000072	T	0.72574	0.3477	L	0.41573	1.285	0.80722	D	1	B	0.20052	0.041	B	0.21151	0.033	T	0.67738	-0.5593	10	0.66056	D	0.02	.	14.6098	0.68507	0.3194:0.6806:0.0:0.0	.	168	P21860	ERBB3_HUMAN	G	109;168;168;109;109	ENSP00000449138:R109G;ENSP00000267101:R168G;ENSP00000449713:R109G;ENSP00000408340:R109G	ENSP00000267101:R168G	R	+	1	2	ERBB3	54766662	0.997000	0.39634	0.995000	0.50966	0.979000	0.70002	0.554000	0.23407	0.090000	0.17273	0.528000	0.53228	AGG		0.498	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			5	89	0	0	0	1	0	5	89				
NOTCH2	4853	broad.mit.edu	37	1	120491110	120491110	+	Silent	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:120491110G>A	ENST00000256646.2	-	17	2898	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	893	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATGTAGCTGCCCTGGGTGT	0.517			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(2677-2679)ggC>ggT		notch 2							143.0	120.0	128.0					1																	120491110		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120491110G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2679C>T	1.37:g.120491110G>A			OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1504		p.G893G	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	17	2898	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	893			EGF-like 23; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.2679C>T	CCDS908.1																																																																																				0.517	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		30	61	0	0	0	1	0	30	61				
RNF8	9025	broad.mit.edu	37	6	37342436	37342436	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:37342436A>G	ENST00000373479.4	+	5	1272	c.1079A>G	c.(1078-1080)gAc>gGc	p.D360G	RNF8_ENST00000469731.1_Missense_Mutation_p.D360G	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	360					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGCAAGAAGGACTTTGAAGCA	0.408																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(1078-1080)gAc>gGc		ring finger protein 8, E3 ubiquitin protein ligase							115.0	103.0	107.0					6																	37342436		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37342436A>G	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1079A>G	6.37:g.37342436A>G	ENSP00000362578:p.Asp360Gly					RNF8_ENST00000469731.1_Missense_Mutation_p.D360G	p.D360G	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			5	1272	+			360					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.1079A>G	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909267	0.33721	.	.	ENSG00000112130	ENST00000373479;ENST00000469731	D;T	0.83591	-1.74;0.59	6.06	4.91	0.64330	.	0.399112	0.26334	N	0.024963	T	0.58104	0.2099	L	0.34521	1.04	0.80722	D	1	B	0.26876	0.162	B	0.21917	0.037	T	0.55958	-0.8058	10	0.18710	T	0.47	-3.6343	11.2125	0.48806	0.9292:0.0:0.0708:0.0	.	360	O76064	RNF8_HUMAN	G	360	ENSP00000362578:D360G;ENSP00000418879:D360G	ENSP00000362578:D360G	D	+	2	0	RNF8	37450414	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.458000	0.60095	1.119000	0.41883	0.533000	0.62120	GAC		0.408	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			27	55	0	0	0	1	0	27	55				
GGPS1	9453	broad.mit.edu	37	1	235505557	235505557	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:235505557G>A	ENST00000282841.5	+	4	605	c.373G>A	c.(373-375)Gga>Aga	p.G125R	GGPS1_ENST00000476121.1_Missense_Mutation_p.G125R|GGPS1_ENST00000488594.1_Missense_Mutation_p.G125R|GGPS1_ENST00000391855.2_Missense_Mutation_p.G71R|GGPS1_ENST00000358966.2_Missense_Mutation_p.G125R			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	125					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	ACTCCATCAGGGACAAGGCCT	0.438																																						ENST00000282841.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8						c.(373-375)Gga>Aga		geranylgeranyl diphosphate synthase 1							55.0	55.0	55.0					1																	235505557		2203	4300	6503	SO:0001583	missense	9453				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:235505557G>A	AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.373G>A	1.37:g.235505557G>A	ENSP00000282841:p.Gly125Arg					GGPS1_ENST00000476121.1_Missense_Mutation_p.G125R|GGPS1_ENST00000488594.1_Missense_Mutation_p.G125R|GGPS1_ENST00000391855.2_Missense_Mutation_p.G71R|GGPS1_ENST00000358966.2_Missense_Mutation_p.G125R	p.G125R			O95749	GGPPS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		4	605	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	125					A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	ENST00000282841.5	37	c.373G>A	CCDS1604.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886309	0.91814	.	.	ENSG00000152904	ENST00000488594;ENST00000471812;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121;ENST00000497327	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	6.17	6.17	0.99709	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90785	0.4682	10	0.87932	D	0	-23.2042	20.8794	0.99867	0.0:0.0:1.0:0.0	.	125	O95749	GGPPS_HUMAN	R	125;125;125;125;71;125;125	ENSP00000418690:G125R;ENSP00000417772:G125R;ENSP00000351852:G125R;ENSP00000282841:G125R;ENSP00000375728:G71R;ENSP00000420183:G125R;ENSP00000417865:G125R	ENSP00000282841:G125R	G	+	1	0	GGPS1	233572180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GGA		0.438	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837		21	55	0	0	0	1	0	21	55				
CEACAM5	1048	broad.mit.edu	37	19	42223995	42223995	+	Silent	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr19:42223995C>T	ENST00000221992.6	+	7	1753	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	CEACAM5_ENST00000398599.4_Silent_p.L546L|CEACAM5_ENST00000405816.1_Silent_p.L547L|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	547	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGTCCCAGGCTGCAGCTGTC	0.517																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1639-1641)Ctg>Ttg		carcinoembryonic antigen-related cell adhesion molecule 5							176.0	156.0	163.0					19																	42223995		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42223995C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1639C>T	19.37:g.42223995C>T						CEACAM5_ENST00000405816.1_Silent_p.L547L|CEACAM5_ENST00000398599.4_Silent_p.L546L|CEA_ENST00000598976.1_Intron	p.L547L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1753	+			547			Ig-like 6.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1639C>T	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	1.908	-0.451392	0.04572	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.31	-4.62	0.03370	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.35624	-0.9781	4	.	.	.	.	9.4051	0.38457	0.7588:0.2412:0.0:0.0	.	.	.	.	V	542	.	.	A	+	2	0	CEACAM5	46915835	0.001000	0.12720	0.007000	0.13788	0.057000	0.15508	-2.567000	0.00916	-0.898000	0.03906	0.404000	0.27445	GCT		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		44	172	0	0	0	1	0	44	172				
PCDH11X	27328	broad.mit.edu	37	X	91873878	91873878	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:91873878C>T	ENST00000373094.1	+	7	4828	c.3983C>T	c.(3982-3984)cCa>cTa	p.P1328L	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1310L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1318L|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1291L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1291L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1320L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1328					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCTTCACTCCACGCCAACAG	0.413																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3982-3984)cCa>cTa		protocadherin 11 X-linked							145.0	136.0	139.0					X																	91873878		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873878C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3983C>T	X.37:g.91873878C>T	ENSP00000362186:p.Pro1328Leu					PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1291L|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1291L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1318L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1320L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1310L	p.P1328L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4828	+			1328					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3983C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	7.075	0.569128	0.13560	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.56444	0.48;0.5;0.54;0.46;0.48;0.54	4.57	2.71	0.32032	.	.	.	.	.	T	0.35038	0.0918	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.001	T	0.28427	-1.0044	9	0.87932	D	0	.	5.9484	0.19232	0.1534:0.6684:0.0:0.1781	.	1291;1310;1320;1318;1328	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	L	1328;1318;1291;1310;1320;1328;1291	ENSP00000362186:P1328L;ENSP00000362189:P1318L;ENSP00000362180:P1291L;ENSP00000355105:P1310L;ENSP00000384758:P1320L;ENSP00000298274:P1291L	ENSP00000298274:P1291L	P	+	2	0	PCDH11X	91760534	0.002000	0.14202	0.006000	0.13384	0.090000	0.18270	1.348000	0.33987	0.189000	0.20188	0.459000	0.35465	CCA		0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		79	82	0	0	0	1	0	79	82				
FSTL5	56884	broad.mit.edu	37	4	163032430	163032430	+	Missense_Mutation	SNP	C	C	T	rs202045279		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr4:163032430C>T	ENST00000306100.5	-	2	555	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	FSTL5_ENST00000536695.1_Missense_Mutation_p.R40Q|FSTL5_ENST00000427802.2_Missense_Mutation_p.R40Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.R40Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	40						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R40Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TACCTTATGTCGCAATCTCAT	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14329	0.0		0.0	False		,,,				2504	0.0					ENST00000306100.5																			1	Substitution - Missense(1)	p.R40Q(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(118-120)cGa>cAa		follistatin-like 5		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	181.0	175.0	177.0		119,119,119	5.5	1.0	4		177	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FSTL5	NM_001128427.1,NM_001128428.1,NM_020116.3	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	40/847,40/838,40/848	163032430	1,13005	2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:163032430C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.119G>A	4.37:g.163032430C>T	ENSP00000305334:p.Arg40Gln					FSTL5_ENST00000536695.1_Missense_Mutation_p.R40Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.R40Q|FSTL5_ENST00000427802.2_Missense_Mutation_p.R40Q	p.R40Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	2	555	-	all_hematologic(180;0.24)		40					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.119G>A	CCDS3802.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.1	4.373962	0.82573	0.0	1.16E-4	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74421	-0.83;-0.81;-0.84;-0.81	5.51	5.51	0.81932	.	0.211970	0.31010	N	0.008436	T	0.80253	0.4589	L	0.44542	1.39	0.35569	D	0.80531	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.75484	0.953;0.986;0.968	T	0.78892	-0.2025	10	0.20046	T	0.44	.	15.2632	0.73640	0.0:1.0:0.0:0.0	.	40;40;40	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Q	40	ENSP00000305334:R40Q;ENSP00000368462:R40Q;ENSP00000389270:R40Q;ENSP00000440409:R40Q	ENSP00000305334:R40Q	R	-	2	0	FSTL5	163251880	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.955000	0.63638	2.761000	0.94854	0.585000	0.79938	CGA		0.393	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		38	124	0	0	0	1	0	38	124				
DUSP21	63904	broad.mit.edu	37	X	44703764	44703764	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chrX:44703764T>C	ENST00000339042.4	+	1	516	c.386T>C	c.(385-387)cTg>cCg	p.L129P		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	129	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TCCATGTCGCTGCTGGACGCC	0.557																																						ENST00000339042.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						c.(385-387)cTg>cCg		dual specificity phosphatase 21							86.0	65.0	72.0					X																	44703764		2203	4300	6503	SO:0001583	missense	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703764T>C	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.386T>C	X.37:g.44703764T>C	ENSP00000343244:p.Leu129Pro						p.L129P	NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN			1	516	+			129			Tyrosine-protein phosphatase.		Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	c.386T>C	CCDS14264.1	.	.	.	.	.	.	.	.	.	.	t	14.73	2.623991	0.46840	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	D	0.87179	-2.22	3.97	3.97	0.46021	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92958	0.7759	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93382	0.6744	10	0.87932	D	0	.	10.2839	0.43556	0.0:0.0:0.0:1.0	.	129	Q9H596	DUS21_HUMAN	P	129;128	ENSP00000343244:L129P	ENSP00000343244:L129P	L	+	2	0	DUSP21	44588708	1.000000	0.71417	0.229000	0.23960	0.110000	0.19582	7.738000	0.84966	1.789000	0.52484	0.483000	0.47432	CTG		0.557	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		12	63	0	0	0	1	0	12	63				
OIT3	170392	broad.mit.edu	37	10	74690334	74690334	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr10:74690334G>A	ENST00000334011.5	+	8	1624	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	469	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TACACATCCCGGGATCACCTA	0.438																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(1405-1407)cGg>cAg		oncoprotein induced transcript 3							227.0	223.0	225.0					10																	74690334		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74690334G>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1406G>A	10.37:g.74690334G>A	ENSP00000333900:p.Arg469Gln						p.R469Q	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			8	1624	+	Prostate(51;0.0198)		469			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.1406G>A	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453748	0.63290	.	.	ENSG00000138315	ENST00000334011	D	0.82081	-1.57	5.87	5.87	0.94306	Zona pellucida sperm-binding protein (3);	0.146717	0.30118	N	0.010365	T	0.69405	0.3107	L	0.36672	1.1	0.33450	D	0.583499	P	0.49447	0.924	B	0.35655	0.207	T	0.74990	-0.3475	10	0.27082	T	0.32	-18.0096	7.7134	0.28690	0.1916:0.0:0.8084:0.0	.	469	Q8WWZ8	OIT3_HUMAN	Q	469	ENSP00000333900:R469Q	ENSP00000333900:R469Q	R	+	2	0	OIT3	74360340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.282000	0.72639	2.781000	0.95711	0.655000	0.94253	CGG		0.438	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		39	145	0	0	0	1	0	39	145				
RB1	5925	broad.mit.edu	37	13	48951141	48951141	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr13:48951141G>T	ENST00000267163.4	+	13	1441	c.1303G>T	c.(1303-1305)Gga>Tga	p.G435*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	435	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.G435*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TAAAGCTGTGGGACAGGGTTG	0.353		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		24	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(1)	p.0?(15)|p.?(8)|p.G435*(1)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1303-1305)Gga>Tga		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						109.0	118.0	115.0					13																	48951141		2203	4299	6502	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48951141G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1303G>T	13.37:g.48951141G>T	ENSP00000267163:p.Gly435*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.G435*	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	13	1441	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	435			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1303G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	39	7.836570	0.98516	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	X	414;435	.	ENSP00000267163:G435X	G	+	1	0	RB1	47849142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.600000	0.90860	2.814000	0.96858	0.591000	0.81541	GGA		0.353	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			51	45	1	0	7.05377e-20	1	8.78515e-20	51	45				
ANKRD36	375248	broad.mit.edu	37	2	97875549	97875549	+	Missense_Mutation	SNP	G	G	A	rs552402847		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:97875549G>A	ENST00000461153.2	+	56	3551	c.3307G>A	c.(3307-3309)Gag>Aag	p.E1103K	ANKRD36_ENST00000420699.2_Missense_Mutation_p.E1103K			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1103								p.E1103K(1)|p.E933K(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TACAAGTGACGAGAAAGATTC	0.323													.|||	1	0.000199681	0.0	0.0	5008	,	,		25820	0.001		0.0	False		,,,				2504	0.0					ENST00000420699.2																			2	Substitution - Missense(2)	p.E1103K(1)|p.E933K(1)	endometrium(2)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3307-3309)Gag>Aag		ankyrin repeat domain 36							91.0	117.0	109.0					2																	97875549		692	1590	2282	SO:0001583	missense	375248							g.chr2:97875549G>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3307G>A	2.37:g.97875549G>A	ENSP00000419530:p.Glu1103Lys					ANKRD36_ENST00000461153.2_Missense_Mutation_p.E1103K	p.E1103K	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			56	3551	+			1103					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3307G>A	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.398740	0.01175	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.77620	-1.11;-1.11	0.167	-0.333	0.12671	.	.	.	.	.	T	0.53029	0.1771	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35992	-0.9766	8	0.06099	T	0.92	.	.	.	.	.	1103	A6QL64	AN36A_HUMAN	K	1103	ENSP00000419530:E1103K;ENSP00000391950:E1103K	ENSP00000391950:E1103K	E	+	1	0	ANKRD36	97239276	0.017000	0.18338	0.029000	0.17559	0.029000	0.11900	0.009000	0.13219	-0.889000	0.03950	-0.897000	0.02905	GAG		0.323	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	55	0	0	0	1	0	5	55				
OR10G7	390265	broad.mit.edu	37	11	123909619	123909619	+	Silent	SNP	C	C	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr11:123909619C>A	ENST00000330487.5	-	1	98	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CGTAAACCACCAGGAAGATTC	0.572																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(88-90)ctG>ctT		olfactory receptor, family 10, subfamily G, member 7							83.0	81.0	81.0					11																	123909619		2200	4297	6497	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909619C>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.90G>T	11.37:g.123909619C>A							p.L30L	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	98	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	30					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.90G>T	CCDS31705.1																																																																																				0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		16	145	1	0	1.64293e-13	1	1.92378e-13	16	145				
CSMD1	64478	broad.mit.edu	37	8	3063085	3063085	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:3063085G>T	ENST00000520002.1	-	32	5483	c.4928C>A	c.(4927-4929)cCc>cAc	p.P1643H	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1643H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1643H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1643H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1643	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.P1642L(1)|p.P1371L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAATTATGGGGGTAGTTTGG	0.408																																						ENST00000520002.1																			2	Substitution - Missense(2)	p.P1642L(1)|p.P1371L(1)	lung(2)	breast(20)|large_intestine(5)	25						c.(4927-4929)cCc>cAc		CUB and Sushi multiple domains 1							73.0	71.0	71.0					8																	3063085		1859	4094	5953	SO:0001583	missense	64478					integral to membrane		g.chr8:3063085G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4928C>A	8.37:g.3063085G>T	ENSP00000430733:p.Pro1643His					CSMD1_ENST00000602723.1_Missense_Mutation_p.P1643H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1643H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1643H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000523387.1_5'UTR	p.P1643H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	32	5483	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1643			CUB 10.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4928C>A		.	.	.	.	.	.	.	.	.	.	G	22.6	4.312609	0.81358	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.28	5.28	0.74379	CUB (5);	0.071401	0.56097	D	0.000026	T	0.76040	0.3932	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85603	0.1253	10	0.87932	D	0	.	19.2736	0.94021	0.0:0.0:1.0:0.0	.	1643;1643;1643	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	H	1643;1643;1505;1642;1642;1642	ENSP00000383047:P1643H;ENSP00000430733:P1643H;ENSP00000441462:P1642H;ENSP00000446243:P1642H;ENSP00000441675:P1642H	ENSP00000320445:P1505H	P	-	2	0	CSMD1	3050492	1.000000	0.71417	0.957000	0.39632	0.651000	0.38670	9.576000	0.98192	2.617000	0.88574	0.655000	0.94253	CCC		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	14	1	0	1.26484e-09	1	1.42036e-09	6	14				
PITX1	5307	broad.mit.edu	37	5	134364505	134364505	+	Silent	SNP	C	C	T			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr5:134364505C>T	ENST00000265340.7	-	3	1325	c.909G>A	c.(907-909)ccG>ccA	p.P303P	PITX1_ENST00000506438.1_Silent_p.P303P	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	303					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GGCCCGAGGCCGGGCCCTGCA	0.731																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(907-909)ccG>ccA		paired-like homeodomain 1							18.0	20.0	19.0					5																	134364505		2201	4299	6500	SO:0001819	synonymous_variant	5307					nucleolus	sequence-specific DNA binding	g.chr5:134364505C>T	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.909G>A	5.37:g.134364505C>T						PITX1_ENST00000506438.1_Silent_p.P303P	p.P303P	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	1325	-			303					A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	ENST00000265340.7	37	c.909G>A	CCDS4182.1																																																																																				0.731	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			7	16	0	0	0	1	0	7	16				
RELB	5971	broad.mit.edu	37	19	45515405	45515405	+	Silent	SNP	G	G	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr19:45515405G>A	ENST00000221452.8	+	4	525	c.375G>A	c.(373-375)ccG>ccA	p.P125P	RELB_ENST00000505236.1_Silent_p.P122P|RELB_ENST00000540120.1_Silent_p.P125P	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	125	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCCCGCAGCCGCACCTGGTCA	0.761																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(373-375)ccG>ccA		v-rel avian reticuloendotheliosis viral oncogene homolog B							7.0	8.0	8.0					19																	45515405		1988	3927	5915	SO:0001819	synonymous_variant	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515405G>A	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.375G>A	19.37:g.45515405G>A						RELB_ENST00000540120.1_Silent_p.P125P|RELB_ENST00000505236.1_Silent_p.P122P	p.P125P	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	4	525	+		Ovarian(192;0.0728)|all_neural(266;0.112)	125			RHD.		Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	c.375G>A	CCDS46110.1																																																																																				0.761	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			7	23	0	0	0	1	0	7	23				
EIF4G3	8672	broad.mit.edu	37	1	21205835	21205836	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr1:21205835_21205836delAT	ENST00000264211.8	-	14	2628_2629	c.2434_2435delAT	c.(2434-2436)atgfs	p.M812fs	EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.M302fs|EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.M416fs|EIF4G3_ENST00000602326.1_Frame_Shift_Del_p.M818fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.M818fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.M812fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.M532fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	812	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACATCGACACATGTTTGCGTAA	0.441																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(2452-2454)gfs		eukaryotic translation initiation factor 4 gamma, 3																																				SO:0001589	frameshift_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21205835_21205836delAT	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2434_2435delAT	1.37:g.21205835_21205836delAT	ENSP00000264211:p.Met812fs					EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.M416fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.M532fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.M818fs|EIF4G3_ENST00000264211.8_Frame_Shift_Del_p.M812fs|EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.M302fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.M812fs	p.M818fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	18	3035_3036	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	812			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Del	DEL	ENST00000264211.8	37	c.2452_2453delAT	CCDS214.1																																																																																				0.441	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		42	156						42	156	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-	rs139294990		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)catfs	p.H565fs	ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	0										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411																																						ENST00000409153.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1693-1695)tfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197943383_197943384delTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.1693_1694delCA	2.37:g.197943393_197943394delTG	ENSP00000387141:p.His565fs					ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron	p.H565fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1875_1876	-			811					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000409153.1	37	c.1693_1694delCA																																																																																					0.411	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		7	28						7	28	---	---	---	---
KLC4	89953	broad.mit.edu	37	6	43039083	43039083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr6:43039083delC	ENST00000394056.2	+	10	1721	c.1226delC	c.(1225-1227)gccfs	p.A409fs	KLC4_ENST00000453940.2_Frame_Shift_Del_p.A332fs|KLC4_ENST00000479388.1_Frame_Shift_Del_p.A409fs|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000347162.5_Frame_Shift_Del_p.A409fs|KLC4_ENST00000259708.3_Frame_Shift_Del_p.A427fs|KLC4_ENST00000394058.1_Frame_Shift_Del_p.A409fs			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	409						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTGACCCGTGCCCATGTACAG	0.517																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(1225-1227)gcfs		kinesin light chain 4							85.0	85.0	85.0					6																	43039083		2203	4300	6503	SO:0001589	frameshift_variant	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43039083delC	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1226delC	6.37:g.43039083delC	ENSP00000377620:p.Ala409fs					KLC4_ENST00000347162.5_Frame_Shift_Del_p.A409fs|KLC4_ENST00000259708.3_Frame_Shift_Del_p.A427fs|KLC4_ENST00000453940.2_Frame_Shift_Del_p.A332fs|KLC4_ENST00000394058.1_Frame_Shift_Del_p.A409fs|KLC4_ENST00000479388.1_Frame_Shift_Del_p.A409fs	p.A409fs			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		10	1721	+			409					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Frame_Shift_Del	DEL	ENST00000394056.2	37	c.1226delC	CCDS4883.1																																																																																				0.517	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		14	75						14	75	---	---	---	---
AC006988.1	0	broad.mit.edu	37	7	88269890	88269891	+	RNA	INS	-	-	T	rs200675201|rs113056340		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr7:88269890_88269891insT	ENST00000390184.1	+	0	56_57																											AGAAGGAGCACTTTTTTTTTTT	0.317																																						ENST00000390184.1																			0																																																			0							g.chr7:88269890_88269891insT																													7.37:g.88269901_88269901dupT														0	56_57	+									RNA	INS	ENST00000390184.1	37																																																																																						0.317	AC006988.1-201	NOVEL	basic	miRNA	miRNA				2	4						2	4	---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101178178	101178179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr8:101178178_101178179insA	ENST00000388798.2	+	3	468_469	c.277_278insA	c.(277-279)gaafs	p.E93fs	SPAG1_ENST00000520508.1_Frame_Shift_Ins_p.E93fs|SPAG1_ENST00000251809.3_Frame_Shift_Ins_p.E93fs|SPAG1_ENST00000520643.1_Frame_Shift_Ins_p.E93fs	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	93					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGAAGAATGGGAAAAAATTGAT	0.361																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(277-279)aaafs		sperm associated antigen 1																																				SO:0001589	frameshift_variant	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101178178_101178179insA	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.283dupA	8.37:g.101178184_101178184dupA	ENSP00000373450:p.Glu93fs					SPAG1_ENST00000520643.1_Frame_Shift_Ins_p.K93fs|SPAG1_ENST00000520508.1_Frame_Shift_Ins_p.K93fs|SPAG1_ENST00000251809.3_Frame_Shift_Ins_p.K93fs	p.K93fs	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	3	468_469	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	93					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Frame_Shift_Ins	INS	ENST00000388798.2	37	c.277_278insA	CCDS34930.1																																																																																				0.361	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		11	88						11	88	---	---	---	---
BTBD6	90135	broad.mit.edu	37	14	105716856	105716856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr14:105716856delC	ENST00000392554.3	+	4	1602	c.1305delC	c.(1303-1305)gtcfs	p.V435fs	BTBD6_ENST00000463376.2_Frame_Shift_Del_p.V360fs|BRF1_ENST00000446501.2_5'Flank|BTBD6_ENST00000536364.1_Frame_Shift_Del_p.V435fs|BTBD6_ENST00000327471.3_Frame_Shift_Del_p.V360fs|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000392557.4_5'Flank			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	435						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CCAGTGCCGTCCTGGACGGCA	0.572																																						ENST00000463376.2																			0				endometrium(1)|lung(3)	4						c.(1078-1080)gtfs		BTB (POZ) domain containing 6							94.0	83.0	86.0					14																	105716856		2203	4300	6503	SO:0001589	frameshift_variant	90135					cytoplasmic mRNA processing body		g.chr14:105716856delC	AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"""BTB/POZ domain containing"""	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.1305delC	14.37:g.105716856delC	ENSP00000376337:p.Val435fs					BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000392554.3_Frame_Shift_Del_p.V435fs|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Frame_Shift_Del_p.V435fs|BTBD6_ENST00000327471.3_Frame_Shift_Del_p.V360fs|BRF1_ENST00000379937.2_Intron	p.V360fs			Q96KE9	BTBD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)	3	1621	+		Melanoma(154;0.226)	435					Q8IVQ7|Q9BR94	Frame_Shift_Del	DEL	ENST00000392554.3	37	c.1080delC	CCDS10002.2																																																																																				0.572	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			39	82						39	82	---	---	---	---
MIR7162	102466227	broad.mit.edu	37	15	62538522	62538523	+	RNA	INS	-	-	GA	rs3055695|rs540111016|rs370506651	byFrequency	TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr15:62538522_62538523insGA	ENST00000570077.1	-	0	693_694				AC126323.1_ENST00000408214.1_RNA																							GGGGGCTCCGGGTAGGGGTTCA	0.609																																						ENST00000570077.1																			0																																																			102466227							g.chr15:62538522_62538523insGA																													15.37:g.62538522_62538523insGA														0	693_694	-									RNA	INS	ENST00000570077.1	37																																																																																						0.609	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			2	4						2	4	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226616	88226618	+	lincRNA	DEL	TGA	TGA	-			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr16:88226616_88226618delTGA	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							gtgatggtggtgatggtggtggt	0.527																																						ENST00000568587.1																			0																																																			0							g.chr16:88226616_88226618delTGA																													16.37:g.88226616_88226618delTGA														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.527	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			2	4						2	4	---	---	---	---
KRT16P6	353194	broad.mit.edu	37	17	16723089	16723092	+	RNA	DEL	TTTG	TTTG	-	rs368861496		TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:16723089_16723092delTTTG	ENST00000417510.1	-	0	871																											tttttttttttttgacagggtcta	0.49																																						ENST00000417510.1																			0																																																			353194							g.chr17:16723089_16723092delTTTG																													17.37:g.16723089_16723092delTTTG														0	871	-									RNA	DEL	ENST00000417510.1	37																																																																																						0.490	AC022596.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131123.1			2	4						2	4	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62052593	62052593	+	5'Flank	DEL	C	C	-			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr17:62052593delC	ENST00000435607.1	-	0	0				SCN4A_ENST00000578147.1_5'Flank|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGCCCTCTCCACCCTCCAC	0.572																																						ENST00000577329.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:62052593delC	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499			17.37:g.62052593delC	Exception_encountered													0	55	-								Q15478|Q16447|Q7Z6B1	RNA	DEL	ENST00000435607.1	37		CCDS45761.1																																																																																				0.572	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		2	4						2	4	---	---	---	---
CTNNBL1	56259	broad.mit.edu	37	20	36361471	36361471	+	Splice_Site	DEL	T	T	-			TCGA-IQ-A6SG-01A-12D-A34J-08	TCGA-IQ-A6SG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09d1b40f-c5c2-49e7-bc2a-8a076ba59658	7f6c4b53-f204-4f74-a112-83d89e542313	g.chr20:36361471delT	ENST00000361383.6	+	2	336		c.e2+2		CTNNBL1_ENST00000405275.2_Splice_Site	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1						apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAGGAAGAGGTAACGTGGCAG	0.483																																					Ovarian(184;582 2038 3273 4106 42608)	ENST00000405275.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28						c.e3+2		catenin, beta like 1							42.0	37.0	38.0					20																	36361471		2203	4300	6503	SO:0001630	splice_region_variant	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36361471delT	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.219+2T>-	20.37:g.36361471delT						CTNNBL1_ENST00000361383.6_Splice_Site				Q8WYA6	CTBL1_HUMAN			3	381	+		Myeloproliferative disorder(115;0.00878)						B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Splice_Site	DEL	ENST00000361383.6	37		CCDS13298.1																																																																																				0.483	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877	Intron	16	15						16	15	---	---	---	---
