#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
SPSB1	80176	broad.mit.edu	37	1	9416221	9416221	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:9416221G>A	ENST00000328089.6	+	2	612	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	SPSB1_ENST00000377399.2_Missense_Mutation_p.V91I|SPSB1_ENST00000357898.3_Missense_Mutation_p.V91I	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	91	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGGGCAAAGTCGGGTATAC	0.632																																						uc010oae.2																			0				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.(271-273)Gtc>Atc		Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.							126.0	130.0	128.0					1																	9416221		2203	4300	6503	SO:0001583	missense	80176				intracellular signal transduction	cytoplasm		g.chr1:9416221G>A		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.271G>A	1.37:g.9416221G>A	ENSP00000330221:p.Val91Ile					SPSB1_uc001apv.3_Missense_Mutation_p.V91I	p.V91I	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	1	610	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	91			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	ENST00000328089.6	37	c.271G>A	CCDS102.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382738	0.25031	.	.	ENSG00000171621	ENST00000328089;ENST00000450402;ENST00000357898;ENST00000377399	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.059882	0.64402	D	0.000003	T	0.27967	0.0689	N	0.26162	0.8	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08994	-1.0695	10	0.15952	T	0.53	-0.9163	11.2799	0.49188	0.0833:0.0:0.9167:0.0	.	91	Q96BD6	SPSB1_HUMAN	I	91	ENSP00000330221:V91I;ENSP00000409235:V91I;ENSP00000350573:V91I;ENSP00000366616:V91I	ENSP00000330221:V91I	V	+	1	0	SPSB1	9338808	1.000000	0.71417	0.988000	0.46212	0.956000	0.61745	5.676000	0.68131	2.428000	0.82296	0.655000	0.94253	GTC		0.632	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106	
CYP4B1	1580	broad.mit.edu	37	1	47279693	47279693	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:47279693C>T	ENST00000271153.4	+	6	766	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R245C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R82C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R230C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	244					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CCCACATGGCCGCCGCTTCCT	0.592																																						uc001cqn.4																			0		p.R244L(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(733-735)Cgc>Tgc		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							108.0	106.0	107.0					1																	47279693		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279693C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.730C>T	1.37:g.47279693C>T	ENSP00000271153:p.Arg244Cys					CYP4B1_uc009vyl.1_Missense_Mutation_p.R81C|CYP4B1_uc001cqm.4_Missense_Mutation_p.R244C|CYP4B1_uc009vym.3_Missense_Mutation_p.R230C|CYP4B1_uc010omk.2_Missense_Mutation_p.R81C|CYP4B1_uc010oml.1_Missense_Mutation_p.R82C	p.R245C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			5	817	+	Acute lymphoblastic leukemia(166;0.155)		244					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.733C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736654	0.30774	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.08	3.21	0.36854	.	0.278448	0.42682	N	0.000670	T	0.73783	0.3631	M	0.91920	3.255	0.43724	D	0.996204	B;B;B;B	0.30211	0.151;0.241;0.231;0.273	B;B;B;B	0.30782	0.04;0.064;0.073;0.12	T	0.70644	-0.4815	10	0.44086	T	0.13	.	8.926	0.35641	0.0:0.7702:0.0:0.2298	.	82;230;245;244	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	C	245;244;230;82;81	ENSP00000360991:R245C;ENSP00000271153:R244C;ENSP00000360987:R230C;ENSP00000400413:R82C;ENSP00000437670:R81C	ENSP00000271153:R244C	R	+	1	0	CYP4B1	47052280	0.002000	0.14202	1.000000	0.80357	0.516000	0.34256	1.475000	0.35409	0.545000	0.28902	-0.333000	0.08304	CGC		0.592	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493					uc010pbc.1																			0											c.e3-2		Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																																						645166							g.chr1:148933289A>G																													1.37:g.148933289A>G						LOC645166_uc010pbd.1_Intron|LOC645166_uc009wkw.1_Splice_Site								3		+									Splice_Site	SNP	ENST00000539543.1	37	c.236_splice																																																																																					0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA			
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						uc001frr.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)cttfs		Homo sapiens CD1d molecule (CD1D), mRNA.							202.0	226.0	218.0					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs					CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	p.L25fs	NM_001766	NP_001757	P15813	CD1D_HUMAN			2	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	
GPR161	23432	broad.mit.edu	37	1	168065791	168065791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:168065791G>A	ENST00000367838.1	-	5	1367	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	GPR161_ENST00000537209.1_Nonsense_Mutation_p.R372*|GPR161_ENST00000367836.1_Nonsense_Mutation_p.R220*|GPR161_ENST00000367835.1_Nonsense_Mutation_p.R352*|GPR161_ENST00000361697.2_Nonsense_Mutation_p.R352*|GPR161_ENST00000546300.1_Nonsense_Mutation_p.R238*|GPR161_ENST00000539777.1_Nonsense_Mutation_p.R274*|GPR161_ENST00000271357.5_Nonsense_Mutation_p.R352*	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	352					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GTCCTCTGTCGTTGCACAAAT	0.512																																						uc010pln.2																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1114-1116)Cga>Tga		Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.							86.0	84.0	85.0					1																	168065791		2203	4300	6503	SO:0001587	stop_gained	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168065791G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1054C>T	1.37:g.168065791G>A	ENSP00000356812:p.Arg352*					GPR161_uc001gfb.3_Nonsense_Mutation_p.R220*|GPR161_uc001gfc.3_Nonsense_Mutation_p.R352*|GPR161_uc010pll.2_Nonsense_Mutation_p.R262*|GPR161_uc010plm.2_Nonsense_Mutation_p.R238*|GPR161_uc009wvo.3_Nonsense_Mutation_p.R369*|GPR161_uc001gfd.3_Nonsense_Mutation_p.R352*|GPR161_uc001gfe.1_Nonsense_Mutation_p.R352*	p.R372*	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			3	1648	-	all_hematologic(923;0.215)		352					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Nonsense_Mutation	SNP	ENST00000367838.1	37	c.1114C>T	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	40	8.099384	0.98654	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	.	.	.	5.61	3.71	0.42584	.	0.128731	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4176	11.4639	0.50227	0.1471:0.0:0.8529:0.0	.	.	.	.	X	352;352;220;352;238;274;372;352	.	ENSP00000271357:R352X	R	-	1	2	GPR161	166332415	1.000000	0.71417	0.998000	0.56505	0.311000	0.27955	6.489000	0.73641	1.500000	0.48636	0.655000	0.94253	CGA		0.512	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
HMCN1	83872	broad.mit.edu	37	1	186008959	186008959	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:186008959T>C	ENST00000271588.4	+	39	6357	c.6128T>C	c.(6127-6129)cTg>cCg	p.L2043P	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2043P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2043	Ig-like C2-type 18.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCCCCAAGTCTGACCTGGTTG	0.443																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6127-6129)cTg>cCg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							164.0	153.0	157.0					1																	186008959		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186008959T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6128T>C	1.37:g.186008959T>C	ENSP00000271588:p.Leu2043Pro						p.L2043P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			38	6357	+			2043			Ig-like C2-type 18.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6128T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.356077	0.82243	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068925	0.64402	D	0.000017	T	0.81422	0.4819	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83339	-0.0009	10	0.54805	T	0.06	.	14.6532	0.68814	0.0:0.0:0.0:1.0	.	2043	Q96RW7	HMCN1_HUMAN	P	2043	ENSP00000271588:L2043P;ENSP00000356462:L2043P	ENSP00000271588:L2043P	L	+	2	0	HMCN1	184275582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.626000	0.83164	1.995000	0.58328	0.528000	0.53228	CTG		0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
DSTYK	25778	broad.mit.edu	37	1	205129369	205129369	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:205129369G>A	ENST00000367162.3	-	8	2008	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.R660W	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	660	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TACTGGCCCCGGCCCAGTTCC	0.502																																						uc001hbw.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(1978-1980)Cgg>Tgg		Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.							112.0	104.0	107.0					1																	205129369		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205129369G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1978C>T	1.37:g.205129369G>A	ENSP00000356130:p.Arg660Trp					DSTYK_uc001hbx.3_Missense_Mutation_p.R660W|DSTYK_uc001hby.1_Missense_Mutation_p.R121W	p.R660W	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			7	2042	-			660			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.1978C>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517392	0.64634	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.67345	-0.26;-0.26	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	M	0.79805	2.47	0.80722	D	1	D;D;B	0.89917	1.0;0.974;0.26	D;P;B	0.67231	0.95;0.709;0.315	D	0.83422	0.0033	10	0.87932	D	0	-22.4492	13.5844	0.61921	0.0:0.0:0.8444:0.1555	.	121;660;660	Q6XUX3-4;Q6XUX3-2;Q6XUX3	.;.;DUSTY_HUMAN	W	660	ENSP00000356129:R660W;ENSP00000356130:R660W	ENSP00000356129:R660W	R	-	1	2	DSTYK	203395992	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.118000	0.71583	2.581000	0.87130	0.563000	0.77884	CGG		0.502	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375	
TRIM58	25893	broad.mit.edu	37	1	248023987	248023987	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:248023987C>T	ENST00000366481.3	+	2	537	c.489C>T	c.(487-489)aaC>aaT	p.N163N		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	163						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGAGGCCAACGTGGGGAAAA	0.483																																						uc001ido.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(487-489)aaC>aaT		Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.							108.0	106.0	107.0					1																	248023987		2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248023987C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.489C>T	1.37:g.248023987C>T							p.N163N	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	537	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	163					Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.489C>T	CCDS1636.1																																																																																				0.483	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
ZNF33B	7582	broad.mit.edu	37	10	43088980	43088980	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:43088980T>C	ENST00000359467.3	-	5	1532	c.1418A>G	c.(1417-1419)gAg>gGg	p.E473G	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTCCCACACTCAAGACATTC	0.383																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			0		p.E473*(1)|p.E473Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1417-1419)gAg>gGg		Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.							91.0	87.0	89.0					10																	43088980		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088980T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1418A>G	10.37:g.43088980T>C	ENSP00000352444:p.Glu473Gly					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E361G|ZNF33B_uc001jad.3_Intron	p.E473G	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			4	1533	-			473					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1418A>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.596683	0.28445	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.18810	2.19	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.262056	0.20071	N	0.099862	T	0.17746	0.0426	L	0.43701	1.375	0.09310	N	1	P	0.36183	0.542	B	0.36186	0.219	T	0.14504	-1.0470	10	0.72032	D	0.01	.	9.0257	0.36227	0.0:0.0:0.0:1.0	.	473	Q06732	ZN33B_HUMAN	G	473;439	ENSP00000352444:E473G	ENSP00000352444:E473G	E	-	2	0	ZNF33B	42408986	0.000000	0.05858	0.573000	0.28510	0.832000	0.47134	0.299000	0.19138	1.449000	0.47699	0.341000	0.21757	GAG		0.383	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955	
PTEN	5728	broad.mit.edu	37	10	89653809	89653809	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:89653809G>A	ENST00000371953.3	+	2	1464	c.107G>A	c.(106-108)gGa>gAa	p.G36E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	36	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in glioma). {ECO:0000269|PubMed:9090379}.|G -> R (in endometrial hyperplasia). {ECO:0000269|PubMed:9635567}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.G36E(4)|p.Y27fs*1(2)|p.G36V(2)|p.G36fs*18(1)|p.A34_G36del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATTGCTATGGGATTTCCTGCA	0.284		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		55	Whole gene deletion(37)|Unknown(8)|Substitution - Missense(6)|Deletion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)	p.0?(37)|p.G36E(8)|p.?(8)|p.G36R(4)|p.G36V(4)|p.G36fs*18(2)|p.A34_G36del(2)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.G36*(1)|p.M35R(1)	prostate(15)|central_nervous_system(13)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(106-108)gGa>gAa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							109.0	110.0	109.0					10																	89653809		2203	4296	6499	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653809G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.107G>A	10.37:g.89653809G>A	ENSP00000361021:p.Gly36Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.G36E	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1139	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	36		G -> E (in glioma).|G -> R (in endometrial hyperplasia).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.107G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100775	0.94245	.	.	ENSG00000171862	ENST00000371953	D	0.98717	-5.09	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98886	1.0771	9	.	.	.	-0.2255	17.4682	0.87639	0.0:0.0:1.0:0.0	.	36	P60484	PTEN_HUMAN	E	36	ENSP00000361021:G36E	.	G	+	2	0	PTEN	89643789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.018000	0.93657	2.421000	0.82119	0.655000	0.94253	GGA		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
FFAR4	338557	broad.mit.edu	37	10	95347103	95347103	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:95347103A>C	ENST00000371483.4	+	4	927	c.871A>C	c.(871-873)Atc>Ctc	p.I291L	FFAR4_ENST00000371481.4_Missense_Mutation_p.I275L|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	291					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										CTCCTTCTTCATCATGTGGAG	0.582																																						uc010qnt.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						c.(871-873)Atc>Ctc		Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.							195.0	179.0	184.0					10																	95347103		2203	4300	6503	SO:0001583	missense	338557				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	g.chr10:95347103A>C		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.871A>C	10.37:g.95347103A>C	ENSP00000360538:p.Ile291Leu					O3FAR1_uc010qnu.2_Missense_Mutation_p.I275L	p.I291L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN			3	927	+			291					Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.871A>C	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888735	0.52014	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.36340	1.26;1.26	4.99	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.22437	0.0541	L	0.28192	0.835	0.33791	D	0.625446	B;B	0.25809	0.058;0.135	B;B	0.26416	0.022;0.069	T	0.25916	-1.0118	10	0.13853	T	0.58	-30.6709	9.1704	0.37076	0.8512:0.0:0.1488:0.0	.	275;291	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	L	275;291	ENSP00000360536:I275L;ENSP00000360538:I291L	ENSP00000360536:I275L	I	+	1	0	O3FAR1	95337093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.417000	0.34770	1.015000	0.39444	0.454000	0.30748	ATC		0.582	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745	
Unknown	0	broad.mit.edu	37	10	135491125	135491125	+	IGR	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:135491125G>A								AL845259.1 (17946 upstream) : None (None downstream)																							CCACACCGGCGCGTGGGGAAC	0.781																																						uc021qbj.1																			0													Homo sapiens double homeobox 2 (DUX2), mRNA.																																				SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491125G>A																													10.37:g.135491125G>A						DUX4L3_uc010qvh.1_Missense_Mutation_p.A246T|DUX4L3_uc021qbi.1_5'UTR		NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN					+									Missense_Mutation	SNP		37																																																																																					0	0.781								
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs199749095	byFrequency	TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	RP11-326C3.11_ENST00000508004.2_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632																																						uc001lpa.2																			3	Substitution - Missense(3)	p.P70T(6)	endometrium(2)|central_nervous_system(1)	central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(208-210)Ccc>Acc		Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.							89.0	95.0	93.0					11																	320606		2101	4210	6311	SO:0001583	missense	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320606G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.208C>A	11.37:g.320606G>T	ENSP00000382707:p.Pro70Thr					BC040735_uc001loz.3_Intron	p.P70T	NM_021034	NP_066362	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	0	309	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	70			Interaction with SPP1.		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	c.208C>A	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	0.076|0.076	-1.193620|-1.193620	0.01594|0.01594	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|T;T	.|0.78595	.|-0.94;-1.19	4.65|4.65	-9.3|-9.3	0.00649|0.00649	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54447	.|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.32375	.|-0.9909	.|9	.|0.22109	.|T	.|0.4	.|.	2.5632|2.5632	0.04777|0.04777	0.1587:0.0951:0.2785:0.4676|0.1587:0.0951:0.2785:0.4676	.|.	.|70	.|Q01628	.|IFM3_HUMAN	.|T	-1|70;49	.|ENSP00000382707:P70T;ENSP00000432108:P49T	.|ENSP00000382707:P70T	.|P	-|-	.|1	.|0	IFITM3|IFITM3	310606|310606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.460000|-1.460000	0.02368|0.02368	-3.272000|-3.272000	0.00199|0.00199	-2.532000|-2.532000	0.00182|0.00182	.|CCC		0.632	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
MUC2	4583	broad.mit.edu	37	11	1101144	1101144	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:1101144G>A	ENST00000441003.2	+	41	7570	c.7543G>A	c.(7543-7545)Gac>Aac	p.D2515N		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4877					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACCCTGCCGACACCTGCTG	0.622																																						uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(7531-7533)Gac>Aac		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)						87.0	97.0	94.0					11																	1101144		2113	4224	6337	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1101144G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7543G>A	11.37:g.1101144G>A	ENSP00000415183:p.Asp2515Asn						p.D2511N	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	42	7558	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4877					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.7531G>A		.	.	.	.	.	.	.	.	.	.	G	7.156	0.584716	0.13749	.	.	ENSG00000198788	ENST00000441003	T	0.12879	2.64	3.25	1.17	0.20885	.	.	.	.	.	T	0.04227	0.0117	N	0.10685	0.025	0.22591	N	0.99896	P	0.46859	0.885	B	0.29663	0.105	T	0.37150	-0.9718	9	0.16896	T	0.51	.	7.9521	0.30021	0.2204:0.0:0.7796:0.0	.	2515	E7EUV1	.	N	2515	ENSP00000415183:D2515N	ENSP00000415183:D2515N	D	+	1	0	MUC2	1091144	0.998000	0.40836	0.261000	0.24466	0.126000	0.20510	2.670000	0.46833	0.443000	0.26582	0.479000	0.44913	GAC		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
OR51T1	401665	broad.mit.edu	37	11	4903141	4903141	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:4903141C>A	ENST00000322049.1	+	1	12	c.12C>A	c.(10-12)ttC>ttA	p.F4L	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.F31L|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAATATTCAATAACACCA	0.368																																						uc010qyp.2																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(91-93)ttC>ttA		Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.							152.0	122.0	132.0					11																	4903141		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903141C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.12C>A	11.37:g.4903141C>A	ENSP00000322679:p.Phe4Leu						p.F31L	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	93	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	4					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.93C>A		.	.	.	.	.	.	.	.	.	.	C	0.885	-0.727332	0.03158	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.35789	1.29;5.41	4.18	3.24	0.37175	.	0.559177	0.14981	N	0.287239	T	0.15912	0.0383	N	0.08118	0	0.34291	D	0.683214	B	0.02656	0.0	B	0.04013	0.001	T	0.20505	-1.0273	10	0.09084	T	0.74	.	8.103	0.30868	0.0:0.8072:0.0:0.1928	.	4	Q8NGJ9	O51T1_HUMAN	L	31;4	ENSP00000369738:F31L;ENSP00000322679:F4L	ENSP00000322679:F4L	F	+	3	2	OR51T1	4859717	0.833000	0.29383	0.970000	0.41538	0.120000	0.20174	1.570000	0.36439	1.082000	0.41137	0.484000	0.47621	TTC		0.368	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759	
OR10A6	390093	broad.mit.edu	37	11	7949484	7949484	+	Silent	SNP	G	G	A	rs374708960	byFrequency	TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:7949484G>A	ENST00000309838.2	-	1	725	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGTGAGCGGCACAGGTGG	0.453													G|||	2	0.000399361	0.0	0.0	5008	,	,		18346	0.0		0.0	False		,,,				2504	0.002					uc010rbh.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(724-726)gcC>gcT		Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.		G		0,4402		0,0,2201	123.0	110.0	115.0		726	1.5	1.0	11		115	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR10A6	NM_001004461.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		242/315	7949484	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949484G>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.726C>T	11.37:g.7949484G>A							p.A242A	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	726	-			242					Q6IF59	Silent	SNP	ENST00000309838.2	37	c.726C>T	CCDS31420.1																																																																																				0.453	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
MADD	8567	broad.mit.edu	37	11	47345856	47345856	+	Missense_Mutation	SNP	G	G	A	rs568759986		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:47345856G>A	ENST00000311027.5	+	32	4748	c.4583G>A	c.(4582-4584)cGc>cAc	p.R1528H	MADD_ENST00000405573.2_Missense_Mutation_p.R338H|MADD_ENST00000402192.2_Missense_Mutation_p.R1468H|MADD_ENST00000349238.3_Missense_Mutation_p.R1489H|MADD_ENST00000342922.4_Missense_Mutation_p.R1469H|MADD_ENST00000407859.3_Missense_Mutation_p.R1446H|MADD_ENST00000395336.3_Missense_Mutation_p.R1528H|MADD_ENST00000395344.3_Missense_Mutation_p.R1422H|MADD_ENST00000402799.1_Missense_Mutation_p.R1426H|MADD_ENST00000406482.1_Missense_Mutation_p.R1426H	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGCATGGAGCGCGCTGCCGCC	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18051	0.0		0.0	False		,,,				2504	0.0					uc001ner.1																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(4582-4584)cGc>cAc		Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.							65.0	66.0	65.0					11																	47345856		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47345856G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4583G>A	11.37:g.47345856G>A	ENSP00000310933:p.Arg1528His					MADD_uc001neq.2_Missense_Mutation_p.R1469H|MADD_uc001nev.1_Missense_Mutation_p.R1426H|MADD_uc001nes.1_Missense_Mutation_p.R1446H|MADD_uc001net.1_Missense_Mutation_p.R1489H|MADD_uc009yln.1_Missense_Mutation_p.R1422H|MADD_uc001neu.1_Missense_Mutation_p.R1426H|MADD_uc001nez.2_Missense_Mutation_p.R1425H|MADD_uc001new.2_Missense_Mutation_p.R1468H|MADD_uc001nex.2_Missense_Mutation_p.R1528H|MADD_uc009ylo.3_Missense_Mutation_p.R442H	p.R1528H	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	31	4774	+			1528						Missense_Mutation	SNP	ENST00000311027.5	37	c.4583G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588621	0.96590	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.55052	3.12;3.0;3.02;3.11;3.09;3.0;3.0;3.09;3.13;0.54	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.97;0.991;0.991;0.999;0.998;0.998;0.996;0.998;0.996;0.996;0.998	T	0.70865	-0.4756	10	0.87932	D	0	-9.3092	19.8881	0.96917	0.0:0.0:1.0:0.0	.	338;1422;1422;1528;1426;1426;1426;1489;1446;1528;1469	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	1469;1426;1426;1426;1489;1528;1446;1422;1528;1468;338	ENSP00000343902:R1469H;ENSP00000385585:R1426H;ENSP00000384435:R1426H;ENSP00000304505:R1489H;ENSP00000310933:R1528H;ENSP00000384204:R1446H;ENSP00000378753:R1422H;ENSP00000378745:R1528H;ENSP00000384287:R1468H;ENSP00000384483:R338H	ENSP00000310933:R1528H	R	+	2	0	MADD	47302432	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	7.622000	0.83099	2.708000	0.92522	0.555000	0.69702	CGC		0.592	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
MS4A7	58475	broad.mit.edu	37	11	60150731	60150731	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:60150731C>T	ENST00000300184.3	+	2	313	c.117C>T	c.(115-117)aaC>aaT	p.N39N	MS4A7_ENST00000534016.1_Silent_p.N39N|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Silent_p.N39N|MS4A7_ENST00000530234.2_Silent_p.N39N	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	39						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACCTGCAGAACGGGCTGCCAA	0.438																																						uc001npe.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(115-117)aaC>aaT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.							90.0	76.0	81.0					11																	60150731		2203	4300	6503	SO:0001819	synonymous_variant	58475					integral to membrane	receptor activity	g.chr11:60150731C>T	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.117C>T	11.37:g.60150731C>T						MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	p.N39N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			1	262	+			39					A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	c.117C>T	CCDS7985.1																																																																																				0.438	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1		
NADSYN1	55191	broad.mit.edu	37	11	71191823	71191823	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:71191823C>T	ENST00000319023.2	+	11	1084	c.896C>T	c.(895-897)cCc>cTc	p.P299L	NADSYN1_ENST00000539574.1_Missense_Mutation_p.P39L|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_5'UTR	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	299	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AGCCCCTACCCCAGAGTGAAG	0.587																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(895-897)cCc>cTc		Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						77.0	68.0	71.0					11																	71191823		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71191823C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.896C>T	11.37:g.71191823C>T	ENSP00000326424:p.Pro299Leu					NADSYN1_uc001oqo.3_Missense_Mutation_p.P39L|NADSYN1_uc001oqp.3_5'UTR	p.P299L	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			10	1022	+			299			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.896C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656268	0.47467	.	.	ENSG00000172890	ENST00000319023;ENST00000539574	T;T	0.24151	2.42;1.87	5.18	4.23	0.50019	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.348813	0.30219	N	0.010124	T	0.35770	0.0943	M	0.82517	2.595	0.53688	D	0.999975	P;B	0.48834	0.916;0.444	P;B	0.45660	0.489;0.266	T	0.23904	-1.0175	10	0.38643	T	0.18	-34.4793	10.9884	0.47534	0.3235:0.6765:0.0:0.0	.	39;299	B3KUU4;Q6IA69	.;NADE_HUMAN	L	299;39	ENSP00000326424:P299L;ENSP00000443718:P39L	ENSP00000326424:P299L	P	+	2	0	NADSYN1	70869471	1.000000	0.71417	0.995000	0.50966	0.354000	0.29330	2.338000	0.43957	2.413000	0.81919	0.561000	0.74099	CCC		0.587	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161	
SPATA19	219938	broad.mit.edu	37	11	133714446	133714446	+	Silent	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:133714446G>A	ENST00000299140.3	-	3	279	c.225C>T	c.(223-225)tcC>tcT	p.S75S	SPATA19_ENST00000532889.1_Silent_p.S75S	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	75					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GGGTGGGAGGGGAGTCAGTGG	0.552																																						uc001qgv.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11						c.(223-225)tcC>tcT		Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.							146.0	136.0	140.0					11																	133714446		2201	4297	6498	SO:0001819	synonymous_variant	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133714446G>A	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.225C>T	11.37:g.133714446G>A							p.S75S	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	2	276	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	75					Q8N7A9	Silent	SNP	ENST00000299140.3	37	c.225C>T	CCDS8493.1																																																																																				0.552	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927	
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.2																			0											c.(319-321)Ggc>Cgc		Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R							0	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
C12orf50	160419	broad.mit.edu	37	12	88379716	88379716	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr12:88379716G>A	ENST00000298699.2	-	11	1217	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	C12orf50_ENST00000550553.1_Missense_Mutation_p.A307V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCATTCAACGCGACAGTCCT	0.478																																						uc001tam.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(1036-1038)gCg>gTg		Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.							215.0	204.0	208.0					12																	88379716		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88379716G>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.1037C>T	12.37:g.88379716G>A	ENSP00000298699:p.Ala346Val					C12orf50_uc001tan.3_Missense_Mutation_p.A361V	p.A346V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			10	1205	-			346					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.1037C>T	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272595	0.23221	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.30448	1.53;1.53	5.91	5.01	0.66863	.	0.719361	0.12995	N	0.422145	T	0.21841	0.0526	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.31680	0.228;0.335	B;B	0.22386	0.039;0.038	T	0.12142	-1.0559	10	0.49607	T	0.09	.	13.5603	0.61784	0.0:0.0:0.8439:0.1561	.	361;346	G3V208;Q8NA57	.;CL050_HUMAN	V	346;307;361	ENSP00000298699:A346V;ENSP00000448344:A307V	ENSP00000298699:A346V	A	-	2	0	C12orf50	86903847	0.631000	0.27164	0.388000	0.26195	0.048000	0.14542	3.890000	0.56220	1.466000	0.48025	0.650000	0.86243	GCG		0.478	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589	
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	rs538397448		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:20039688G>A	ENST00000400230.2	-	8	573	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R137*|TPTE2_ENST00000457266.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R100*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R100*|TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R177*|TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R137*|TPTE2_ENST00000400103.2_Nonsense_Mutation_p.R66*			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	177					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													g|||	1	0.000199681	0.0	0.0	5008	,	,		18530	0.001		0.0	False		,,,				2504	0.0					uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(529-531)Cga>Tga		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							35.0	34.0	34.0					13																	20039688		2199	4299	6498	SO:0001587	stop_gained	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039688G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.529C>T	13.37:g.20039688G>A	ENSP00000383089:p.Arg177*					TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	p.R177*	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	177					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Nonsense_Mutation	SNP	ENST00000400230.2	37	c.529C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291005	0.80914	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	.	.	.	2.79	2.79	0.32731	.	0.072865	0.56097	U	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7066	9.2507	0.37554	0.0:0.0:1.0:0.0	.	.	.	.	X	137;66;177;100;100;177;137;66;177;46	.	.	R	-	1	2	TPTE2	18937688	0.009000	0.17119	0.002000	0.10522	0.006000	0.05464	1.476000	0.35420	1.846000	0.53633	0.467000	0.42956	CGA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
ZC3H13	23091	broad.mit.edu	37	13	46544544	46544544	+	Missense_Mutation	SNP	C	C	T	rs144621814		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:46544544C>T	ENST00000242848.4	-	13	2873	c.2525G>A	c.(2524-2526)cGt>cAt	p.R842H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R842H|ZC3H13_ENST00000378921.2_5'Flank			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	842	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGAATGTTCACGCCGGCGCTT	0.438																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2524-2526)cGt>cAt		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.		C	HIS/ARG	0,4406		0,0,2203	145.0	157.0	153.0		2525	5.9	1.0	13	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZC3H13	NM_015070.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	842/1565	46544544	2,13004	2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46544544C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2525G>A	13.37:g.46544544C>T	ENSP00000242848:p.Arg842His					ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R842H|ZC3H13_uc001vat.1_Missense_Mutation_p.R842H	p.R842H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2531	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	842			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2525G>A		.	.	.	.	.	.	.	.	.	.	C	12.85	2.062614	0.36373	0.0	2.33E-4	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.35605	2.32;1.3	5.93	5.93	0.95920	.	0.093212	0.47852	D	0.000211	T	0.56171	0.1967	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.57548	0.67;0.823	T	0.51140	-0.8743	10	0.45353	T	0.12	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	842;842	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	842	ENSP00000242848:R842H;ENSP00000282007:R842H	ENSP00000242848:R842H	R	-	2	0	ZC3H13	45442545	1.000000	0.71417	0.953000	0.39169	0.763000	0.43281	2.340000	0.43974	2.826000	0.97356	0.655000	0.94253	CGT		0.438	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
RB1	5925	broad.mit.edu	37	13	49033823	49033823	+	Splice_Site	SNP	G	G	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:49033823G>T	ENST00000267163.4	+	20	2098		c.e20-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						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.?(16)|p.0?(15)		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)"""	TATTCCCACAGTGTATCGGCT	0.363		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)																												uc001vcb.3		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"""		31	Unknown(16)|Whole gene deletion(15)	p.?(16)|p.0?(15)	bone(10)|haematopoietic_and_lymphoid_tissue(5)|breast(4)|eye(2)|cervix(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|liver(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	GRCh37	CS030557	RB1	S		c.e20-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						69.0	74.0	72.0					13																	49033823		2203	4300	6503	SO:0001630	splice_region_variant	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.chr13:49033823G>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.1961-1G>T	13.37:g.49033823G>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.V654_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	20	2127	+		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)	654		V -> E (in RB).	Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1961_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335455	0.81801	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0412	0.97590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47931824	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.476000	0.97823	2.746000	0.94184	0.650000	0.86243	.		0.363	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron
RB1	5925	broad.mit.edu	37	13	49033839	49033839	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:49033839A>T	ENST00000267163.4	+	20	2114	c.1976A>T	c.(1975-1977)tAt>tTt	p.Y659F		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	659	Domain B.|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.?(11)|p.Y659F(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)"""	CGGCTAGCCTATCTCCGGCTA	0.378		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)																												uc001vcb.3		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"""		27	Whole gene deletion(15)|Unknown(11)|Substitution - Missense(1)	p.0?(15)|p.?(11)|p.Y659F(2)|p.Y659H(1)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(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.(1975-1977)tAt>tTt		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						73.0	79.0	77.0					13																	49033839		2203	4300	6503	SO:0001583	missense	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.chr13:49033839A>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.1976A>T	13.37:g.49033839A>T	ENSP00000267163:p.Tyr659Phe	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Y659F	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2142	+		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)	659			Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1976A>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362741	0.82353	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.90676	-2.71	5.79	5.79	0.91817	Retinoblastoma-associated protein, B-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.95277	0.8468	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95005	0.8146	10	0.45353	T	0.12	.	16.1337	0.81465	1.0:0.0:0.0:0.0	.	659	P06400	RB_HUMAN	F	638;659	ENSP00000267163:Y659F	ENSP00000267163:Y659F	Y	+	2	0	RB1	47931840	1.000000	0.71417	0.994000	0.49952	0.796000	0.44982	8.962000	0.93254	2.216000	0.71823	0.528000	0.53228	TAT		0.378	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
SYNE2	23224	broad.mit.edu	37	14	64496750	64496750	+	Silent	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:64496750G>A	ENST00000344113.4	+	44	7064	c.6852G>A	c.(6850-6852)gcG>gcA	p.A2284A	SYNE2_ENST00000554584.1_Silent_p.A2284A|SYNE2_ENST00000358025.3_Silent_p.A2284A|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2284			A -> V (in dbSNP:rs4027402). {ECO:0000269|PubMed:12118075}.		centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCAAATAGCGGTTGAGGAAA	0.363																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6850-6852)gcG>gcA		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							67.0	64.0	65.0					14																	64496750		1840	4083	5923	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64496750G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6852G>A	14.37:g.64496750G>A						SYNE2_uc001xgm.3_Silent_p.A2284A|SYNE2_uc021ruh.1_Silent_p.A2284A	p.A2284A	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	43	7082	+			2284		A -> V (in dbSNP:rs4027402).			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.6852G>A	CCDS41963.1																																																																																				0.363	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
PROX2	283571	broad.mit.edu	37	14	75329430	75329430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:75329430G>A	ENST00000445876.1	-	1	1107	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	PROX2_ENST00000556489.2_Nonsense_Mutation_p.Q370*|PROX2_ENST00000556084.2_Intron			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	370					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGTGCCTCTGGGAAGATGAG	0.542																																						uc021rwo.1																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(1108-1110)Cag>Tag		Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.							50.0	55.0	53.0					14																	75329430		1984	4165	6149	SO:0001587	stop_gained	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329430G>A		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1108C>T	14.37:g.75329430G>A	ENSP00000405932:p.Gln370*					PROX2_uc001xqp.2_Nonsense_Mutation_p.Q370*|PROX2_uc001xqq.2_Intron	p.Q370*	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	0	1108	-			370					C9J5W1|Q8N9Q3	Nonsense_Mutation	SNP	ENST00000445876.1	37	c.1108C>T	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941631	0.73557	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	.	.	.	5.37	5.37	0.77165	.	1.001640	0.08053	N	0.996978	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.845	13.0828	0.59123	0.0:0.211:0.789:0.0	.	.	.	.	X	370	.	ENSP00000374315:Q370X	Q	-	1	0	PROX2	74399183	0.225000	0.23685	0.020000	0.16555	0.246000	0.25737	2.995000	0.49441	2.519000	0.84933	0.555000	0.69702	CAG		0.542	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
KCNK10	54207	broad.mit.edu	37	14	88729810	88729810	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:88729810C>T	ENST00000340700.5	-	2	574	c.123G>A	c.(121-123)ccG>ccA	p.P41P	KCNK10_ENST00000319231.5_Silent_p.P46P|KCNK10_ENST00000312350.5_Silent_p.P46P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	41					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAGGCGCGGAGTTGGAG	0.652																																						uc001xwm.3																			0		p.S46F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(136-138)ccG>ccA		Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.							65.0	70.0	68.0					14																	88729810		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729810C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.123G>A	14.37:g.88729810C>T						KCNK10_uc001xwn.3_Silent_p.P46P|KCNK10_uc001xwo.3_Silent_p.P41P	p.P46P	NM_138318	NP_612191	P57789	KCNKA_HUMAN			1	260	-			41					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.138G>A	CCDS9880.1																																																																																				0.652	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
ISLR	3671	broad.mit.edu	37	15	74467595	74467595	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr15:74467595C>T	ENST00000249842.3	+	2	753	c.396C>T	c.(394-396)aaC>aaT	p.N132N	ISLR_ENST00000395118.1_Silent_p.N132N|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	132					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGACAGCAACGAGCTGACCT	0.592																																						uc002axg.1																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(394-396)aaC>aaT		Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.							103.0	98.0	100.0					15																	74467595		2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467595C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.396C>T	15.37:g.74467595C>T						ISLR_uc002axh.1_Silent_p.N132N|ISLR_uc021sqf.1_Silent_p.N132N	p.N132N	NM_005545	NP_958934	O14498	ISLR_HUMAN			1	678	+			132						Silent	SNP	ENST00000249842.3	37	c.396C>T	CCDS10260.1																																																																																				0.592	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545	
CHP2	63928	broad.mit.edu	37	16	23767768	23767768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr16:23767768C>T	ENST00000300113.2	+	5	835	c.412C>T	c.(412-414)Cag>Tag	p.Q138*		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	138	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TGAGATGCTGCAGGTTGGCAG	0.537																																						uc002dmb.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(412-414)Cag>Tag		Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.							88.0	70.0	76.0					16																	23767768		2197	4300	6497	SO:0001587	stop_gained	63928						calcium ion binding	g.chr16:23767768C>T		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.412C>T	16.37:g.23767768C>T	ENSP00000300113:p.Gln138*						p.Q138*	NM_022097	NP_071380	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	4	835	+			138			EF-hand 3.		A8K2I8	Nonsense_Mutation	SNP	ENST00000300113.2	37	c.412C>T	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	C	36	5.706326	0.96821	.	.	ENSG00000166869	ENST00000300113	.	.	.	3.67	3.67	0.42095	.	0.076227	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-27.8216	13.6905	0.62542	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000300113:Q138X	Q	+	1	0	AC130454.2	23675269	0.996000	0.38824	0.973000	0.42090	0.270000	0.26580	3.493000	0.53266	2.333000	0.79357	0.591000	0.81541	CAG		0.537	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097	
CES1	1066	broad.mit.edu	37	16	55855414	55855414	+	Missense_Mutation	SNP	G	G	A	rs200227274		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr16:55855414G>A	ENST00000361503.4	-	5	686	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	CES1_ENST00000422046.2_Missense_Mutation_p.R186W|CES1_ENST00000360526.3_Missense_Mutation_p.R187W|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	186				R -> G (in Ref. 18; CAA37147). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CAGTTCCCCCGGCTGTGTTCA	0.602																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.3																			0											c.(556-558)Cgg>Tgg		Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						33.0	39.0	37.0					16																	55855414		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55855414G>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.556C>T	16.37:g.55855414G>A	ENSP00000355193:p.Arg186Trp					CES1_uc002eil.3_Missense_Mutation_p.R187W|CES1_uc002ein.3_Missense_Mutation_p.R186W	p.R186W	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	4	664	-			186	R -> G (in Ref. 18; CAA37147).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.556C>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	10.88	1.474792	0.26511	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.10382	3.01;3.01;2.88	4.18	2.14	0.27477	Carboxylesterase, type B (1);	1.484950	0.03816	N	0.266719	T	0.19886	0.0478	M	0.81614	2.55	0.09310	N	0.999996	P;P;P	0.46706	0.883;0.883;0.858	B;B;B	0.42495	0.337;0.389;0.228	T	0.28459	-1.0043	10	0.66056	D	0.02	.	7.1201	0.25440	0.0974:0.0:0.735:0.1676	.	186;186;187	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	W	187;186;186;51	ENSP00000353720:R187W;ENSP00000355193:R186W;ENSP00000390492:R186W	ENSP00000353720:R187W	R	-	1	2	CES1	54412915	0.012000	0.17670	0.468000	0.27192	0.373000	0.29922	1.775000	0.38584	0.761000	0.33130	-0.496000	0.04628	CGG		0.602	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266	
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	rs587782144		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000455263.2_Missense_Mutation_p.R158H	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		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)	uc002gim.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"""		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(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	CM994513	TP53	M		c.(472-474)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							49.0	51.0	50.0					17																	7578457		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.chr17:7578457C>T	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.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	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_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	p.R158H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.473G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NF1	4763	broad.mit.edu	37	17	29665808	29665808	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:29665808delG	ENST00000358273.4	+	46	7289	c.6906delG	c.(6904-6906)cagfs	p.Q2302fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.Q2281fs|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Frame_Shift_Del_p.Q95fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2302					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q2302fs*17(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAATTACAGCCACTTCTTA	0.333			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(1)	p.0?(8)|p.?(3)|p.Q2302fs*17(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6904-6906)cagfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							72.0	72.0	72.0					17																	29665808		2203	4294	6497	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665808delG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6906delG	17.37:g.29665808delG	ENSP00000351015:p.Gln2302fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Del_p.Q2281fs|NF1_uc010cso.3_Frame_Shift_Del_p.Q490fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	p.Q2302fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	45	7289	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2302					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.6906delG	CCDS42292.1																																																																																				0.333	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
SLC25A39	51629	broad.mit.edu	37	17	42400868	42400868	+	Silent	SNP	C	C	T	rs199722360	byFrequency	TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:42400868C>T	ENST00000377095.5	-	2	182	c.63G>A	c.(61-63)ggG>ggA	p.G21G	SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Silent_p.G21G|SLC25A39_ENST00000537904.2_Silent_p.G21G|SLC25A39_ENST00000225308.8_Silent_p.G21G	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	21					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TAACCACAGCCCCGGTGCCTG	0.617													C|||	2	0.000399361	0.0008	0.0	5008	,	,		7424	0.0		0.001	False		,,,				2504	0.0					uc002ign.2																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(61-63)ggG>ggA		Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.																																				SO:0001819	synonymous_variant	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42400868C>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.63G>A	17.37:g.42400868C>T						SLC25A39_uc002igm.2_Silent_p.G21G|SLC25A39_uc010wiw.1_Silent_p.G21G|SLC25A39_uc010wix.1_Silent_p.G21G|SLC25A39_uc010wiy.1_Silent_p.G21G	p.G21G	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	217	-		Prostate(33;0.0233)	21					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Silent	SNP	ENST00000377095.5	37	c.63G>A	CCDS45700.1																																																																																				0.617	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016	
UNC13D	201294	broad.mit.edu	37	17	73827417	73827417	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:73827417C>T	ENST00000207549.4	-	26	2839	c.2460G>A	c.(2458-2460)ctG>ctA	p.L820L	UNC13D_ENST00000412096.2_Silent_p.L820L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	820	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGTCCAGAGCAGGGTCAGGA	0.667									Familial Hemophagocytic Lymphohistiocytosis																													uc002jpp.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2458-2460)ctG>ctA		Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.							32.0	37.0	35.0					17																	73827417		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73827417C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2460G>A	17.37:g.73827417C>T						UNC13D_uc010wsk.1_Silent_p.L820L|UNC13D_uc002jpq.1_3'UTR	p.L820L	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	2840	-			820			MHD2.		B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.2460G>A	CCDS11730.1																																																																																				0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950	
SEMA6B	10501	broad.mit.edu	37	19	4555533	4555533	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr19:4555533G>C	ENST00000586582.1	-	7	825	c.515C>G	c.(514-516)gCc>gGc	p.A172G	SEMA6B_ENST00000586965.1_Missense_Mutation_p.A172G|SEMA6B_ENST00000301293.3_Missense_Mutation_p.A172G	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	172	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCAGCGGGCCATACCGCT	0.622																																						uc010dud.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(514-516)gCc>gGc		Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.							108.0	97.0	101.0					19																	4555533		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4555533G>C	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.515C>G	19.37:g.4555533G>C	ENSP00000467290:p.Ala172Gly					SEMA6B_uc010xih.1_Missense_Mutation_p.A172G	p.A172G	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	6	777	-		Hepatocellular(1079;0.137)	172			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.515C>G	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604031	0.66445	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.09538	2.97	3.33	3.33	0.38152	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.31065	0.9	0.44711	D	0.997704	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.00896	-1.1523	10	0.87932	D	0	.	8.9582	0.35832	0.1146:0.0:0.8854:0.0	.	172;172	B4DT36;Q9H3T3	.;SEM6B_HUMAN	G	172	ENSP00000301293:A172G	ENSP00000301292:A172G	A	-	2	0	SEMA6B	4506533	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	7.489000	0.81451	2.164000	0.68074	0.305000	0.20034	GCC		0.622	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108	
ILF3	3609	broad.mit.edu	37	19	10799315	10799315	+	Missense_Mutation	SNP	G	G	A	rs371015547		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr19:10799315G>A	ENST00000590261.1	+	18	2512	c.2512G>A	c.(2512-2514)Gga>Aga	p.G838R	ILF3_ENST00000318511.3_Missense_Mutation_p.G838R|ILF3_ENST00000449870.1_Missense_Mutation_p.G842R|ILF3_ENST00000588657.1_Missense_Mutation_p.G842R|ILF3_ENST00000586544.1_3'UTR			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	838	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCTACGGCGGAGGTTCTGG	0.667																																						uc002mpn.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2512-2514)Gga>Aga		Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.		G	ARG/GLY,ARG/GLY	0,4404		0,0,2202	51.0	63.0	59.0		2512,2524	3.2	0.9	19		59	1,8597		0,1,4298	no	missense,missense	ILF3	NM_012218.3,NM_017620.2	125,125	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	838/895,842/899	10799315	1,13001	2202	4299	6501	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10799315G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2512G>A	19.37:g.10799315G>A	ENSP00000468156:p.Gly838Arg					ILF3_uc002mpo.3_Missense_Mutation_p.G842R|ILF3_uc002mpq.3_Silent_p.A140A	p.G838R	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		18	2829	+			838			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2512G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600009	0.46318	0.0	1.16E-4	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.14391	2.52;2.51	5.32	3.17	0.36434	.	0.614372	0.15644	N	0.251747	T	0.07413	0.0187	N	0.14661	0.345	0.80722	D	1	P;P	0.38504	0.634;0.501	B;B	0.37144	0.242;0.122	T	0.39440	-0.9614	10	0.18710	T	0.47	.	8.3986	0.32572	0.1783:0.0:0.8217:0.0	.	842;838	G5E9M5;Q12906	.;ILF3_HUMAN	R	842;838	ENSP00000404121:G842R;ENSP00000315205:G838R	ENSP00000315205:G838R	G	+	1	0	ILF3	10660315	1.000000	0.71417	0.946000	0.38457	0.986000	0.74619	2.479000	0.45197	0.802000	0.34089	0.655000	0.94253	GGA		0.667	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		
GPR45	11250	broad.mit.edu	37	2	105859310	105859310	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:105859310G>A	ENST00000258456.1	+	1	1111	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R332H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AAAAAATTCCGCGAGGCCTGC	0.557																																						uc002tco.1																			1	Substitution - Missense(1)	p.R332H(2)	stomach(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(994-996)cGc>cAc		Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.							82.0	87.0	85.0					2																	105859310		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859310G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.995G>A	2.37:g.105859310G>A	ENSP00000258456:p.Arg332His						p.R332H	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			0	1111	+			332					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.995G>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012829	0.54468	.	.	ENSG00000135973	ENST00000258456	T	0.58358	0.34	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.28115	0.83	0.54753	D	0.999987	P	0.51240	0.943	P	0.47786	0.557	T	0.40924	-0.9537	10	0.33940	T	0.23	-27.9142	17.2936	0.87163	0.0:0.0:1.0:0.0	.	332	Q9Y5Y3	GPR45_HUMAN	H	332	ENSP00000258456:R332H	ENSP00000258456:R332H	R	+	2	0	GPR45	105225742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.545000	0.73883	2.696000	0.92011	0.456000	0.33151	CGC		0.557	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227	
ITGA4	3676	broad.mit.edu	37	2	182360642	182360642	+	Silent	SNP	C	C	T	rs200212723		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:182360642C>T	ENST00000397033.2	+	14	1948	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	506					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CATATAAGGGCAAGGAAGTTC	0.428																																						uc002unu.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1516-1518)ggC>ggT		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)						185.0	166.0	172.0					2																	182360642		1928	4137	6065	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182360642C>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1518C>T	2.37:g.182360642C>T						ITGA4_uc010frj.1_5'Flank	p.G506G	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		13	2281	+			506					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1518C>T	CCDS42788.1																																																																																				0.428	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
ZDBF2	57683	broad.mit.edu	37	2	207175047	207175047	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:207175047G>A	ENST00000374423.3	+	5	6181	c.5795G>A	c.(5794-5796)cGt>cAt	p.R1932H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1932							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R1932L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAAGGGGCGTGTGGCTTCT	0.433																																						uc002vbp.2																			2	Substitution - Missense(2)	p.R1932L(3)	lung(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5794-5796)cGt>cAt		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							72.0	72.0	72.0					2																	207175047		1952	4152	6104	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175047G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5795G>A	2.37:g.207175047G>A	ENSP00000363545:p.Arg1932His						p.R1932H	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	6045	+			1932					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5795G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	2.068	-0.413771	0.04799	.	.	ENSG00000204186	ENST00000374423	T	0.50813	0.73	5.64	-0.432	0.12291	.	.	.	.	.	T	0.29945	0.0749	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17745	-1.0359	9	0.40728	T	0.16	.	7.3532	0.26704	0.2472:0.1316:0.6212:0.0	.	1932	Q9HCK1	ZDBF2_HUMAN	H	1932	ENSP00000363545:R1932H	ENSP00000363545:R1932H	R	+	2	0	ZDBF2	206883292	0.024000	0.19004	0.000000	0.03702	0.000000	0.00434	0.489000	0.22387	-0.287000	0.09064	-1.371000	0.01190	CGT		0.433	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ANGPT4	51378	broad.mit.edu	37	20	858921	858921	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr20:858921T>A	ENST00000381922.3	-	7	1205	c.1103A>T	c.(1102-1104)cAc>cTc	p.H368L	ANGPT4_ENST00000546022.1_Missense_Mutation_p.H368L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	368	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGTGAGCTGGTGCACCACTTC	0.612																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1102-1104)cAc>cTc		Homo sapiens angiopoietin 4 (ANGPT4), mRNA.							51.0	43.0	46.0					20																	858921		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:858921T>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1103A>T	20.37:g.858921T>A	ENSP00000371347:p.His368Leu					ANGPT4_uc010zpn.2_Missense_Mutation_p.H362L	p.H368L	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			6	1206	-			368			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1103A>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580624	0.86645	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.35973	1.78;1.28	5.5	5.5	0.81552	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.122273	0.53938	D	0.000048	T	0.65460	0.2693	H	0.96662	3.86	0.58432	D	0.999999	P;P	0.50443	0.935;0.935	P;P	0.52159	0.691;0.691	T	0.78206	-0.2294	10	0.72032	D	0.01	.	14.5891	0.68351	0.0:0.0:0.0:1.0	.	368;368	B4E3J9;Q9Y264	.;ANGP4_HUMAN	L	368	ENSP00000371347:H368L;ENSP00000439605:H368L	ENSP00000371347:H368L	H	-	2	0	ANGPT4	806921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.990000	0.70595	2.308000	0.77769	0.533000	0.62120	CAC		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
CHGB	1114	broad.mit.edu	37	20	5903619	5903619	+	Nonsense_Mutation	SNP	C	C	T	rs553869356		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr20:5903619C>T	ENST00000378961.4	+	4	1033	c.829C>T	c.(829-831)Cga>Tga	p.R277*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	277						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.R277*(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGTGGACAAACGACGCACGAG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18067	0.0		0.0	False		,,,				2504	0.001					uc002wmg.3																			1	Substitution - Nonsense(1)	p.R277*(2)	lung(1)	breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(829-831)Cga>Tga		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							38.0	40.0	40.0					20																	5903619		2202	4300	6502	SO:0001587	stop_gained	1114					extracellular region	hormone activity	g.chr20:5903619C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.829C>T	20.37:g.5903619C>T	ENSP00000368244:p.Arg277*					CHGB_uc010zqz.2_5'UTR	p.R277*	NM_001819	NP_001810	P05060	SCG1_HUMAN			3	1135	+			277					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Nonsense_Mutation	SNP	ENST00000378961.4	37	c.829C>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334779	0.95758	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	.	.	.	5.45	5.45	0.79879	.	0.273852	0.28796	N	0.014108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0173	12.9475	0.58382	0.2688:0.7312:0.0:0.0	.	.	.	.	X	277;257	.	ENSP00000368244:R277X	R	+	1	2	CHGB	5851619	1.000000	0.71417	0.958000	0.39756	0.601000	0.36947	1.152000	0.31663	2.547000	0.85894	0.563000	0.77884	CGA		0.607	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
LTN1	26046	broad.mit.edu	37	21	30354691	30354691	+	Splice_Site	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr21:30354691C>T	ENST00000361371.5	-	5	656		c.e5-1		LTN1_ENST00000389194.2_Splice_Site|LTN1_ENST00000389195.2_Splice_Site			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1						protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCTGCAGCACCTACAAAGGGG	0.378																																						uc002ymr.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.e5-1		Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.							71.0	72.0	71.0					21																	30354691		2203	4300	6503	SO:0001630	splice_region_variant	26046						ligase activity|zinc ion binding	g.chr21:30354691C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.577-1G>A	21.37:g.30354691C>T						LTN1_uc010gll.1_Splice_Site	p.V239_splice	NM_015565	NP_056380	O94822	LTN1_HUMAN			5	728	-			193					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	ENST00000361371.5	37	c.715_splice		.	.	.	.	.	.	.	.	.	.	C	23.0	4.366773	0.82463	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0748	0.93156	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTN1	29276562	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.770000	0.74990	2.733000	0.93635	0.655000	0.94253	.		0.378	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	Intron
EIF3L	51386	broad.mit.edu	37	22	38274115	38274115	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr22:38274115C>T	ENST00000412331.2	+	11	2094	c.1512C>T	c.(1510-1512)agC>agT	p.S504S	EIF3L_ENST00000381683.6_Silent_p.S456S|EIF3L_ENST00000406934.1_Silent_p.S406S	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTGGACCAGCGGTATCTCAG	0.522																																						uc003auf.3																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1510-1512)agC>agT		Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.							66.0	63.0	64.0					22																	38274115		2184	4249	6433	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38274115C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1512C>T	22.37:g.38274115C>T						EIF3L_uc011ann.2_Silent_p.S456S|EIF3L_uc003aug.3_Silent_p.S396S	p.S504S	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			10	1590	+			504						Silent	SNP	ENST00000412331.2	37	c.1512C>T	CCDS13960.1																																																																																				0.522	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	
THRB	7068	broad.mit.edu	37	3	24231704	24231704	+	Silent	SNP	C	C	T	rs138865141		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:24231704C>T	ENST00000356447.4	-	4	428	c.144G>A	c.(142-144)acG>acA	p.T48T	THRB_ENST00000416420.1_Silent_p.T48T|THRB_ENST00000396671.2_Silent_p.T48T	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	48	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T48T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CATTTTTCAACGTGCTGCGCC	0.493																																					Melanoma(21;896 1043 15021 37958)	uc003ccz.4																			1	Substitution - coding silent(1)	p.T48T(2)|p.T48M(1)	endometrium(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(142-144)acG>acA		Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	Levothyroxine(DB00451)|Liothyronine(DB00279)	C	,,	1,4405	2.1+/-5.4	0,1,2202	228.0	215.0	219.0		144,144,144	-11.9	0.0	3	dbSNP_134	219	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	THRB	NM_000461.4,NM_001128176.1,NM_001128177.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	48/462,48/462,48/462	24231704	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24231704C>T		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.144G>A	3.37:g.24231704C>T						THRB_uc010hfe.3_Silent_p.T48T|THRB_uc003ccy.4_Silent_p.T48T|THRB_uc003ccx.4_Silent_p.T48T|THRB_uc003cdc.3_Silent_p.T43T|THRB_uc003cdd.3_Silent_p.T43T|THRB_uc003cde.1_Silent_p.T43T|THRB_uc021wuc.1_Silent_p.T43T	p.T48T	NM_001252634	NP_001239563	P10828	THB_HUMAN			5	664	-			48			Modulating.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	c.144G>A	CCDS2641.1																																																																																				0.493	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461	
BSN	8927	broad.mit.edu	37	3	49691996	49691996	+	Silent	SNP	T	T	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:49691996T>C	ENST00000296452.4	+	5	5121	c.5007T>C	c.(5005-5007)cgT>cgC	p.R1669R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1669					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TAGACCTCCGTACAGCTGTCA	0.597																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(5005-5007)cgT>cgC		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.							89.0	84.0	85.0					3																	49691996		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691996T>C	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5007T>C	3.37:g.49691996T>C							p.R1669R	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	5121	+			1669					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.5007T>C	CCDS2800.1																																																																																				0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
BSN	8927	broad.mit.edu	37	3	49693009	49693009	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:49693009G>A	ENST00000296452.4	+	5	6134	c.6020G>A	c.(6019-6021)gGt>gAt	p.G2007D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2007					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCTTCCAGGGTCCTGGACGA	0.597																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6019-6021)gGt>gAt		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.							102.0	97.0	99.0					3																	49693009		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693009G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6020G>A	3.37:g.49693009G>A	ENSP00000296452:p.Gly2007Asp						p.G2007D	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	6134	+			2007					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6020G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611722	0.28712	.	.	ENSG00000164061	ENST00000296452	T	0.17054	2.3	5.1	4.21	0.49690	.	0.454960	0.21506	N	0.073453	T	0.12050	0.0293	N	0.14661	0.345	0.34567	D	0.712963	P	0.50272	0.933	B	0.42386	0.386	T	0.18178	-1.0345	10	0.62326	D	0.03	-16.5453	13.571	0.61847	0.0:0.2521:0.7479:0.0	.	2007	Q9UPA5	BSN_HUMAN	D	2007	ENSP00000296452:G2007D	ENSP00000296452:G2007D	G	+	2	0	BSN	49668013	0.249000	0.23941	0.986000	0.45419	0.876000	0.50452	2.226000	0.42963	2.380000	0.81148	0.561000	0.74099	GGT		0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
CCDC66	285331	broad.mit.edu	37	3	56651395	56651395	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:56651395G>A	ENST00000394672.3	+	14	2169	c.2099G>A	c.(2098-2100)aGg>aAg	p.R700K	CCDC66_ENST00000436465.2_Missense_Mutation_p.R700K|CCDC66_ENST00000326595.7_Missense_Mutation_p.R666K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	700					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TATCCTAAAAGGCCTGATTGG	0.353																																						uc003dhz.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(2098-2100)aGg>aAg		Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.							56.0	57.0	56.0					3																	56651395		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56651395G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2099G>A	3.37:g.56651395G>A	ENSP00000378167:p.Arg700Lys					CCDC66_uc003dhy.3_Missense_Mutation_p.R336K|CCDC66_uc003dhu.3_Missense_Mutation_p.R666K|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_Missense_Mutation_p.R68K	p.R700K	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	13	2186	+			700					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.2099G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789191	0.31685	.	.	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	T;T;T	0.23348	1.92;1.91;1.92	5.8	0.792	0.18625	.	0.229309	0.42821	N	0.000648	T	0.14098	0.0341	L	0.33668	1.02	0.80722	D	1	B	0.19583	0.037	B	0.16722	0.016	T	0.14090	-1.0485	10	0.15499	T	0.54	-5.8893	5.287	0.15706	0.3391:0.0:0.5369:0.1239	.	700	A2RUB6	CCD66_HUMAN	K	700;666;700	ENSP00000378167:R700K;ENSP00000326050:R666K;ENSP00000404320:R700K	ENSP00000326050:R666K	R	+	2	0	CCDC66	56626435	0.959000	0.32827	0.157000	0.22605	0.945000	0.59286	0.883000	0.28200	0.072000	0.16694	0.655000	0.94253	AGG		0.353	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	
CADPS	8618	broad.mit.edu	37	3	62860671	62860671	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:62860671C>G	ENST00000383710.4	-	1	383	c.34G>C	c.(34-36)Gat>Cat	p.D12H	CADPS_ENST00000490353.2_Missense_Mutation_p.D12H|CADPS_ENST00000357948.3_Missense_Mutation_p.D12H|CADPS_ENST00000283269.9_Missense_Mutation_p.D12H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	12					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACGATCTCATCCGATTCTTCT	0.697																																						uc003dll.2																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(34-36)Gat>Cat		Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.							9.0	10.0	10.0					3																	62860671		1790	3943	5733	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62860671C>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.34G>C	3.37:g.62860671C>G	ENSP00000373215:p.Asp12His					CADPS_uc003dlm.2_Missense_Mutation_p.D12H|CADPS_uc003dln.2_Missense_Mutation_p.D12H|CADPS_uc021wzv.1_Missense_Mutation_p.D12H	p.D12H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	0	394	-		Lung SC(41;0.0452)	12					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.34G>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198946	0.58126	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.56103	0.5;0.51;0.5;0.48	5.49	4.59	0.56863	.	0.139939	0.46758	D	0.000265	T	0.55081	0.1898	M	0.71036	2.16	0.45995	D	0.998805	B;B;B	0.31859	0.343;0.343;0.232	B;B;B	0.33690	0.168;0.168;0.081	T	0.60010	-0.7346	10	0.87932	D	0	.	14.5375	0.67971	0.1474:0.8526:0.0:0.0	.	12;12;12	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	H	12	ENSP00000373215:D12H;ENSP00000350632:D12H;ENSP00000283269:D12H;ENSP00000418736:D12H	ENSP00000283269:D12H	D	-	1	0	CADPS	62835711	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	5.510000	0.67018	1.283000	0.44513	0.650000	0.86243	GAT		0.697	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
PDZRN3	23024	broad.mit.edu	37	3	73673955	73673955	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:73673955A>G	ENST00000263666.4	-	1	136	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L	PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3_ENST00000308537.4_Missense_Mutation_p.F8L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	8					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGCCGTCGAAGCGGTCCAGC	0.766																																						uc003dpl.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(22-24)Ttc>Ctc		Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.							7.0	6.0	7.0					3																	73673955		2055	4079	6134	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73673955A>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.22T>C	3.37:g.73673955A>G	ENSP00000263666:p.Phe8Leu						p.F8L	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	0	118	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	8					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.22T>C	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430758	0.83776	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.27256	2.79;1.68	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	L	0.45352	1.415	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.25847	-1.0120	10	0.59425	D	0.04	.	12.986	0.58592	1.0:0.0:0.0:0.0	.	8	Q9UPQ7	PZRN3_HUMAN	L	8	ENSP00000263666:F8L;ENSP00000308831:F8L	ENSP00000263666:F8L	F	-	1	0	PDZRN3	73756645	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.481000	0.90437	1.458000	0.47871	0.172000	0.16884	TTC		0.766	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	
CNTN3	5067	broad.mit.edu	37	3	74535739	74535739	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:74535739G>A	ENST00000263665.6	-	3	253	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	76	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AACTTATAACGATGTTCCATA	0.353																																						uc003dpm.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(226-228)Cgt>Tgt		Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.							121.0	117.0	118.0					3																	74535739		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74535739G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.226C>T	3.37:g.74535739G>A	ENSP00000263665:p.Arg76Cys						p.R76C	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	2	306	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	76			Ig-like C2-type 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.226C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804846	0.50315	.	.	ENSG00000113805	ENST00000263665	T	0.68903	-0.36	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127387	0.53938	D	0.000050	D	0.86781	0.6015	H	0.97758	4.07	0.09310	N	0.999998	D	0.89917	1.0	D	0.66602	0.945	T	0.83166	-0.0096	10	0.87932	D	0	.	12.5426	0.56179	0.0:0.0:0.8336:0.1663	.	76	Q9P232	CNTN3_HUMAN	C	76	ENSP00000263665:R76C	ENSP00000263665:R76C	R	-	1	0	CNTN3	74618429	0.670000	0.27512	0.010000	0.14722	0.598000	0.36846	3.668000	0.54554	2.763000	0.94921	0.585000	0.79938	CGT		0.353	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
MCM2	4171	broad.mit.edu	37	3	127318380	127318380	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:127318380G>A	ENST00000265056.7	+	2	470	c.226G>A	c.(226-228)Ggc>Agc	p.G76S		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	76	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CATTGGAGATGGCATGGAAAG	0.567																																						uc003ejp.3																			0				ovary(3)|skin(2)|stomach(1)	6						c.(226-228)Ggc>Agc		Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.							52.0	51.0	52.0					3																	127318380		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127318380G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.226G>A	3.37:g.127318380G>A	ENSP00000265056:p.Gly76Ser					MCM2_uc011bkm.2_5'UTR|MCM2_uc010hsl.3_Non-coding_Transcript	p.G76S	NM_004526	NP_004517	P49736	MCM2_HUMAN			1	283	+			76			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.226G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104698	0.56291	.	.	ENSG00000073111	ENST00000265056;ENST00000543142;ENST00000480910;ENST00000472731	T;T;T	0.21191	2.02;2.02;2.02	5.2	5.2	0.72013	.	0.163505	0.53938	D	0.000055	T	0.18130	0.0435	N	0.20807	0.61	0.51767	D	0.999931	B	0.24317	0.101	B	0.28385	0.089	T	0.04961	-1.0915	10	0.38643	T	0.18	-46.2224	18.7584	0.91840	0.0:0.0:1.0:0.0	.	76	P49736	MCM2_HUMAN	S	76;76;67;67	ENSP00000265056:G76S;ENSP00000419802:G67S;ENSP00000418930:G67S	ENSP00000265056:G76S	G	+	1	0	MCM2	128801070	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.537000	0.82033	2.417000	0.82017	0.585000	0.79938	GGC		0.567	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						uc003fuw.3																			0											c.(22-24)ccA>ccG		Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																																						727956							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G						SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript	p.P8P							8	1218	+									Silent	SNP	ENST00000445430.1	37	c.24A>G																																																																																					0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
RUFY3	22902	broad.mit.edu	37	4	71644115	71644115	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:71644115T>A	ENST00000226328.4	+	8	1417	c.854T>A	c.(853-855)gTa>gAa	p.V285E	RUFY3_ENST00000417478.2_Missense_Mutation_p.V345E|RUFY3_ENST00000381006.3_Missense_Mutation_p.V285E|RUFY3_ENST00000502653.1_Missense_Mutation_p.V232E|RUFY3_ENST00000536664.1_Missense_Mutation_p.V269E	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	285					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAGGCAAAAGTAGATGCATTA	0.313																																						uc003hfr.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(853-855)gTa>gAa		Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.							74.0	78.0	76.0					4																	71644115		2203	4299	6502	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71644115T>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.854T>A	4.37:g.71644115T>A	ENSP00000226328:p.Val285Glu					RUFY3_uc003hfp.4_Missense_Mutation_p.V345E|RUFY3_uc003hfq.3_Missense_Mutation_p.V285E|RUFY3_uc011cax.2_Missense_Mutation_p.V303E|RUFY3_uc011cay.2_Missense_Mutation_p.V221E	p.V285E	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		7	1449	+		all_hematologic(202;0.248)	285					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.854T>A	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425106	0.83667	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	M	0.69823	2.125	0.80722	D	1	D;D;D;P	0.76494	0.999;0.983;0.998;0.928	D;P;D;P	0.76071	0.979;0.846;0.987;0.828	D	0.88603	0.3151	10	0.87932	D	0	-23.5564	15.867	0.79071	0.0:0.0:0.0:1.0	.	269;285;285;345	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	E	345;285;285;269;232	ENSP00000399771:V345E;ENSP00000370394:V285E;ENSP00000226328:V285E;ENSP00000443652:V269E;ENSP00000425400:V232E	ENSP00000226328:V285E	V	+	2	0	RUFY3	71862979	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.304000	0.78882	2.220000	0.72140	0.533000	0.62120	GTA		0.313	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961	
LARP1B	55132	broad.mit.edu	37	4	128999066	128999066	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:128999066G>C	ENST00000326639.6	+	4	377	c.166G>C	c.(166-168)Ggt>Cgt	p.G56R	LARP1B_ENST00000512292.1_Missense_Mutation_p.G56R|LARP1B_ENST00000427266.1_Missense_Mutation_p.G56R|LARP1B_ENST00000394288.3_Missense_Mutation_p.G56R|LARP1B_ENST00000441387.1_Missense_Mutation_p.G56R|LARP1B_ENST00000264584.5_Missense_Mutation_p.G56R|LARP1B_ENST00000432347.2_Missense_Mutation_p.G56R|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	56						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAATGGTCCTGGTGAAAACGT	0.343																																						uc003iga.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(166-168)Ggt>Cgt		Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.							107.0	106.0	107.0					4																	128999066		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:128999066G>C		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.166G>C	4.37:g.128999066G>C	ENSP00000321997:p.Gly56Arg					LARP1B_uc003ifw.1_Missense_Mutation_p.G56R|LARP1B_uc003ifx.3_Missense_Mutation_p.G56R|LARP1B_uc003ify.3_Missense_Mutation_p.G56R|LARP1B_uc003ifz.1_Missense_Mutation_p.G56R	p.G56R	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			3	297	+			56					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.166G>C	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.824|7.824	0.718344|0.718344	0.15372|0.15372	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T;T;T|.	0.49432|.	1.87;1.4;1.48;0.81;0.78;1.92;1.86;1.39|.	3.88|3.88	0.968|0.968	0.19680|0.19680	.|.	0.769546|.	0.11447|.	N|.	0.563180|.	T|T	0.55433|0.55433	0.1920|0.1920	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P;P|.	0.46512|.	0.822;0.741;0.741;0.879|.	P;P;B;P|.	0.48921|.	0.456;0.472;0.347;0.595|.	T|T	0.45600|0.45600	-0.9250|-0.9250	10|5	0.12766|.	T|.	0.61|.	.|.	6.7633|6.7633	0.23552|0.23552	0.3286:0.0:0.6714:0.0|0.3286:0.0:0.6714:0.0	.|.	56;56;56;56|.	Q659C4;G3XAJ5;Q659C4-3;G3V0E9|.	LAR1B_HUMAN;.;.;.|.	R|S	56|24	ENSP00000321997:G56R;ENSP00000422850:G56R;ENSP00000427281:G56R;ENSP00000377829:G56R;ENSP00000390395:G56R;ENSP00000264584:G56R;ENSP00000396521:G56R;ENSP00000403586:G56R|.	ENSP00000264584:G56R|.	G|W	+|+	1|2	0|0	LARP1B|LARP1B	129218516|129218516	0.999000|0.999000	0.42202|0.42202	0.489000|0.489000	0.27452|0.27452	0.226000|0.226000	0.24999|0.24999	1.032000|1.032000	0.30178|0.30178	0.052000|0.052000	0.16007|0.16007	0.289000|0.289000	0.19496|0.19496	GGT|TGG		0.343	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
JADE1	79960	broad.mit.edu	37	4	129770219	129770219	+	Silent	SNP	C	C	G			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:129770219C>G	ENST00000226319.6	+	5	661	c.381C>G	c.(379-381)ggC>ggG	p.G127G	PHF17_ENST00000413543.2_Silent_p.G127G|PHF17_ENST00000512960.1_Silent_p.G127G|PHF17_ENST00000511647.1_Silent_p.G127G|PHF17_ENST00000452328.2_Silent_p.G115G	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCGAGTTGGGCTATGTGGACA	0.488																																						uc011cgy.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(379-381)ggC>ggG		Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.							171.0	145.0	153.0					4																	129770219		2203	4300	6503	SO:0001819	synonymous_variant	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129770219C>G																												ENST00000226319.6:c.381C>G	4.37:g.129770219C>G						PHF17_uc003igj.3_Silent_p.G127G|PHF17_uc003igk.3_Silent_p.G127G|PHF17_uc003igl.3_Silent_p.G115G|PHF17_uc003igm.3_Silent_p.G127G	p.G127G	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			4	695	+			127						Silent	SNP	ENST00000226319.6	37	c.381C>G	CCDS34062.1																																																																																				0.488	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1		
PCDH18	54510	broad.mit.edu	37	4	138442740	138442740	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:138442740C>G	ENST00000344876.4	-	4	3237	c.2851G>C	c.(2851-2853)Ggg>Cgg	p.G951R	PCDH18_ENST00000511115.1_Missense_Mutation_p.G131R|PCDH18_ENST00000510305.1_Missense_Mutation_p.G162R|PCDH18_ENST00000412923.2_Missense_Mutation_p.G950R|PCDH18_ENST00000507846.1_Missense_Mutation_p.G730R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	951	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AATTCTTCCCCTGGAATGAAC	0.532																																						uc003ihe.4																			0		p.G951E(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2851-2853)Ggg>Cgg		Homo sapiens protocadherin 18 (PCDH18), mRNA.							148.0	143.0	145.0					4																	138442740		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442740C>G	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2851G>C	4.37:g.138442740C>G	ENSP00000355082:p.Gly951Arg					PCDH18_uc003ihf.4_Missense_Mutation_p.G943R|PCDH18_uc011cgz.2_Missense_Mutation_p.G162R|PCDH18_uc003ihg.4_Missense_Mutation_p.G730R|PCDH18_uc011cha.2_Missense_Mutation_p.G131R	p.G951R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			3	3238	-	all_hematologic(180;0.24)		951			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2851G>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921616	0.73213	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.55930	0.57;0.6;0.49;1.38;1.37	5.27	5.27	0.74061	.	0.000000	0.43919	D	0.000520	T	0.74741	0.3756	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.987;0.999	T	0.78183	-0.2303	10	0.87932	D	0	.	18.9255	0.92541	0.0:1.0:0.0:0.0	.	131;730;950;951	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	R	951;950;730;162;131	ENSP00000355082:G951R;ENSP00000390688:G950R;ENSP00000425903:G730R;ENSP00000424269:G162R;ENSP00000425647:G131R	ENSP00000355082:G951R	G	-	1	0	PCDH18	138662190	1.000000	0.71417	0.189000	0.23252	0.868000	0.49771	7.284000	0.78650	2.477000	0.83638	0.655000	0.94253	GGG		0.532	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
CDH18	1016	broad.mit.edu	37	5	19747261	19747261	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:19747261C>T	ENST00000507958.1	-	6	1303	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CDH18_ENST00000502796.1_Missense_Mutation_p.D105N|CDH18_ENST00000382275.1_Missense_Mutation_p.D105N|CDH18_ENST00000511273.1_Missense_Mutation_p.D105N|CDH18_ENST00000274170.4_Missense_Mutation_p.D105N|CDH18_ENST00000506372.1_Missense_Mutation_p.D105N			Q13634	CAD18_HUMAN	cadherin 18, type 2	105	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D104_D105>EY(2)|p.D105Y(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCGTGGTATCGTCAATGATA	0.438																																						uc003jgd.3																			4	Substitution - Missense(2)|Complex - compound substitution(2)	p.D104_D105>EY(3)|p.D105Y(3)|p.D104E(1)	lung(4)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(313-315)Gat>Aat		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							199.0	177.0	184.0					5																	19747261		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747261C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.313G>A	5.37:g.19747261C>T	ENSP00000425093:p.Asp105Asn					CDH18_uc011cnm.2_Missense_Mutation_p.D105N|CDH18_uc003jgc.3_Missense_Mutation_p.D105N|CDH18_uc021xwu.1_Missense_Mutation_p.D105N	p.D105N	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	847	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		105			Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.313G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974301	0.92919	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.23	5.23	0.72850	Cadherin (5);Cadherin-like (1);	0.049153	0.85682	D	0.000000	T	0.52597	0.1744	N	0.21142	0.635	0.58432	D	0.999997	P;D	0.67145	0.906;0.996	P;D	0.63033	0.457;0.91	T	0.49093	-0.8975	9	.	.	.	.	17.3587	0.87344	0.0:1.0:0.0:0.0	.	105;105	B4DHG6;Q13634	.;CAD18_HUMAN	N	105;105;105;105;105;105;51;105	ENSP00000371710:D105N;ENSP00000425093:D105N;ENSP00000274170:D105N;ENSP00000424931:D105N;ENSP00000422138:D105N;ENSP00000427383:D51N;ENSP00000425854:D105N	.	D	-	1	0	CDH18	19783018	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.412000	0.80091	2.441000	0.82636	0.591000	0.81541	GAT		0.438	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
ADAMTS12	81792	broad.mit.edu	37	5	33683134	33683134	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:33683134C>T	ENST00000504830.1	-	5	1239	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E302K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	302	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.|Poly-Glu.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTCTTCTTCGAGTAGAATG	0.423										HNSCC(64;0.19)																												uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(904-906)Gaa>Aaa		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							108.0	99.0	102.0					5																	33683134		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33683134C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.904G>A	5.37:g.33683134C>T	ENSP00000422554:p.Glu302Lys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.E302K	p.E302K	NM_030955	NP_112217	P58397	ATS12_HUMAN			4	1067	-			302			Peptidase M12B.|Poly-Glu.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.904G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929841	0.92389	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.86562	-2.14;-2.14	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.161534	0.56097	D	0.000036	D	0.91253	0.7243	L	0.59967	1.855	0.80722	D	1	D;D	0.76494	0.999;0.994	P;P	0.59012	0.848;0.85	D	0.90636	0.4571	10	0.46703	T	0.11	.	19.5316	0.95231	0.0:1.0:0.0:0.0	.	302;302	P58397-3;P58397	.;ATS12_HUMAN	K	302	ENSP00000422554:E302K;ENSP00000344847:E302K	ENSP00000344847:E302K	E	-	1	0	ADAMTS12	33718891	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	3.545000	0.53648	2.615000	0.88500	0.637000	0.83480	GAA		0.423	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
MATR3	9782	broad.mit.edu	37	5	138657666	138657666	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:138657666G>A	ENST00000394805.3	+	10	2017	c.1682G>A	c.(1681-1683)gGg>gAg	p.G561E	MATR3_ENST00000502499.1_Missense_Mutation_p.G223E|MATR3_ENST00000394800.2_Missense_Mutation_p.G561E|MATR3_ENST00000503811.1_Missense_Mutation_p.G273E|MATR3_ENST00000510056.1_Missense_Mutation_p.G561E|MATR3_ENST00000504203.1_Missense_Mutation_p.G223E|MATR3_ENST00000502929.1_Missense_Mutation_p.G561E|MATR3_ENST00000361059.2_Missense_Mutation_p.G561E|MATR3_ENST00000509990.1_Missense_Mutation_p.G561E	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	561	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTTTCAGGGGAGATGTGTG	0.348																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1681-1683)gGg>gAg		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							138.0	139.0	138.0					5																	138657666		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138657666G>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1682G>A	5.37:g.138657666G>A	ENSP00000378284:p.Gly561Glu					MATR3_uc003ldt.3_Missense_Mutation_p.G223E|MATR3_uc003ldu.3_Missense_Mutation_p.G561E|MATR3_uc010jfb.3_Missense_Mutation_p.G561E|MATR3_uc003ldx.3_Missense_Mutation_p.G561E|MATR3_uc003ldy.3_Missense_Mutation_p.G238E|MATR3_uc003ldz.3_Missense_Mutation_p.G561E|MATR3_uc011czb.2_Missense_Mutation_p.G273E|MATR3_uc003leb.3_Missense_Mutation_p.G223E|MATR3_uc003lec.3_Missense_Mutation_p.G238E	p.G561E	NM_018834	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	2085	+			561			RRM 2.		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.1682G>A	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.247127|4.247127	0.80024|0.80024	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811|ENST00000515833	T;T;T;T;T;T;T;T;T|T	0.76448|0.69926	-0.99;-0.99;-0.54;-0.99;-0.99;-0.99;-0.54;-1.02;-0.5|-0.44	5.09|5.09	4.22|4.22	0.49857|0.49857	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);|.	0.203990|0.203990	0.52532|0.52532	D|D	0.000079|0.000079	T|T	0.76535|0.76535	0.4001|0.4001	M|M	0.76328|0.76328	2.33|2.33	0.47659|0.47659	D|D	0.999489|0.999489	D;D;D;D;D;D|.	0.89917|.	1.0;0.967;1.0;0.967;1.0;0.967|.	D;P;D;P;D;P|.	0.97110|.	1.0;0.766;1.0;0.766;0.998;0.766|.	T|T	0.77963|0.77963	-0.2390|-0.2390	10|8	0.51188|0.49607	T|T	0.08|0.09	-6.2931|-6.2931	13.5988|13.5988	0.62007|0.62007	0.0749:0.0:0.9251:0.0|0.0749:0.0:0.9251:0.0	.|.	273;561;273;561;561;561|.	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243|.	.;.;.;.;.;MATR3_HUMAN|.	E|R	561;561;223;561;561;561;223;561;273|321	ENSP00000423533:G561E;ENSP00000354346:G561E;ENSP00000421218:G223E;ENSP00000422319:G561E;ENSP00000378279:G561E;ENSP00000378284:G561E;ENSP00000426030:G223E;ENSP00000426743:G561E;ENSP00000423587:G273E|ENSP00000422054:G321R	ENSP00000354346:G561E|ENSP00000422054:G321R	G|G	+|+	2|1	0|0	MATR3|MATR3	138685565|138685565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.156000|7.156000	0.77453|0.77453	1.275000|1.275000	0.44379|0.44379	0.557000|0.557000	0.71058|0.71058	GGG|GGA		0.348	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	
PCDHGC3	5098	broad.mit.edu	37	5	140856716	140856716	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:140856716G>A	ENST00000308177.3	+	1	1137	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	PCDHGB2_ENST00000522605.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	345	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGTGGATGTGAATGACAA	0.547																																						uc003lkv.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1033-1035)Gtg>Atg		Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.							76.0	65.0	69.0					5																	140856716		2203	4300	6503	SO:0001583	missense	5098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140856716G>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1033G>A	5.37:g.140856716G>A	ENSP00000312070:p.Val345Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.V345M|PCDHGC5_uc003lkw.2_Intron	p.V345M	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1148	+			343			Cadherin 3.		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1033G>A	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870453	0.51588	.	.	ENSG00000240184	ENST00000308177	T	0.63744	-0.06	5.49	5.49	0.81192	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.81361	0.4806	M	0.89095	3.005	0.24705	N	0.993239	D;D	0.76494	0.999;0.999	D;D	0.73380	0.956;0.98	T	0.74393	-0.3680	9	0.59425	D	0.04	.	12.8313	0.57748	0.0738:0.0:0.9262:0.0	.	345;345	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	M	345	ENSP00000312070:V345M	ENSP00000312070:V345M	V	+	1	0	PCDHGC3	140836900	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.082000	0.50128	2.865000	0.98341	0.655000	0.94253	GTG		0.547	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
EBF1	1879	broad.mit.edu	37	5	158140057	158140057	+	Silent	SNP	G	G	A	rs570120838		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:158140057G>A	ENST00000313708.6	-	13	1572	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.H399H|EBF1_ENST00000517373.1_Silent_p.H422H	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	430					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557			T	HMGA2	lipoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		17081	0.0		0.0	False		,,,				2504	0.001					uc010jip.3				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0		p.H430Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1288-1290)caC>caT		Homo sapiens early B-cell factor 1 (EBF1), mRNA.							127.0	107.0	114.0					5																	158140057		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140057G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1290C>T	5.37:g.158140057G>A						EBF1_uc011ddw.2_Silent_p.H298H|EBF1_uc011ddx.2_Silent_p.H431H|EBF1_uc003lxl.4_Silent_p.H399H	p.H430H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	1592	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	430					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.1290C>T	CCDS4343.1																																																																																				0.557	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
FGD2	221472	broad.mit.edu	37	6	36993651	36993651	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr6:36993651C>T	ENST00000274963.8	+	14	1713	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	514					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCACTGCTACGCATTCCTCA	0.612																																						uc010jwp.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1540-1542)taC>taT		Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.							130.0	98.0	109.0					6																	36993651		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36993651C>T	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1542C>T	6.37:g.36993651C>T						FGD2_uc003ong.2_Silent_p.Y236Y|FGD2_uc011dtv.1_Silent_p.Y142Y|FGD2_uc003onj.1_Silent_p.Y91Y	p.Y514Y	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN			13	1713	+			514					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.1542C>T	CCDS4829.1																																																																																				0.612	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558	
REV3L	5980	broad.mit.edu	37	6	111696862	111696862	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr6:111696862A>T	ENST00000358835.3	-	14	3150	c.2696T>A	c.(2695-2697)tTt>tAt	p.F899Y	REV3L_ENST00000435970.1_Missense_Mutation_p.F821Y|REV3L_ENST00000368802.3_Missense_Mutation_p.F899Y|REV3L_ENST00000368805.1_Missense_Mutation_p.F899Y			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	899					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCCATCTCCAAAGTGACAGTC	0.378								DNA polymerases (catalytic subunits)																														uc003puy.4																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(2695-2697)tTt>tAt	DNA polymerases (catalytic subunits)	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.							92.0	94.0	93.0					6																	111696862		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111696862A>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2696T>A	6.37:g.111696862A>T	ENSP00000351697:p.Phe899Tyr					REV3L_uc003pux.4_Missense_Mutation_p.F821Y|REV3L_uc003puz.4_Missense_Mutation_p.F821Y	p.F899Y	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	12	3037	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	899					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.2696T>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	17.76	3.467564	0.63625	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01430	5.0;5.0;5.0;4.9	5.67	5.67	0.87782	Ribonuclease H-like (1);	0.513851	0.20501	N	0.091098	T	0.01222	0.0040	L	0.51422	1.61	0.35234	D	0.777156	P	0.47106	0.89	B	0.43413	0.419	T	0.68334	-0.5436	10	0.36615	T	0.2	-14.2357	15.9192	0.79547	1.0:0.0:0.0:0.0	.	899	O60673	DPOLZ_HUMAN	Y	899;899;899;821	ENSP00000357792:F899Y;ENSP00000357795:F899Y;ENSP00000351697:F899Y;ENSP00000402003:F821Y	ENSP00000351697:F899Y	F	-	2	0	REV3L	111803555	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.031000	0.70911	2.164000	0.68074	0.533000	0.62120	TTT		0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
DNAH11	8701	broad.mit.edu	37	7	21698496	21698496	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:21698496C>T	ENST00000409508.3	+	30	5206	c.5175C>T	c.(5173-5175)taC>taT	p.Y1725Y	DNAH11_ENST00000328843.6_Silent_p.Y1730Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1730	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGTGGCCTACGAGGAAAAAC	0.443									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(5188-5190)taC>taT		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							57.0	54.0	55.0					7																	21698496		1855	4084	5939	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21698496C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5175C>T	7.37:g.21698496C>T							p.Y1730Y	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			29	5221	+			1730			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.5190C>T																																																																																					0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
GNAT3	346562	broad.mit.edu	37	7	80088110	80088110	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:80088110delT	ENST00000398291.3	-	8	1035	c.942delA	c.(940-942)aaafs	p.K314fs	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	314					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCTTATCTTCTTTTTTTAAAT	0.328																																						uc011kgu.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(940-942)aaafs		Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.							70.0	69.0	70.0					7																	80088110		1817	4090	5907	SO:0001589	frameshift_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80088110delT		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.942delA	7.37:g.80088110delT	ENSP00000381339:p.Lys314fs					CD36_uc003uhc.3_Intron	p.K314fs	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			7	942	-			314					A4D1B2|A4D1B3|B9EJG5	Frame_Shift_Del	DEL	ENST00000398291.3	37	c.942delA	CCDS47625.1																																																																																				0.328	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	
ZAN	7455	broad.mit.edu	37	7	100364655	100364655	+	RNA	SNP	G	G	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:100364655G>T	ENST00000348028.3	+	0	4800				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCACAGCCTCGGGTGACCCCC	0.607																																						uc003uwj.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139						c.(4633-4635)tcG>tcT		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							84.0	89.0	88.0					7																	100364655		2180	4282	6462			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364655G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364655G>T						ZAN_uc003uwk.3_Silent_p.S1545S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.S122S	p.S1545S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		24	4800	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1545			VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.4635G>T																																																																																					0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
CUL1	8454	broad.mit.edu	37	7	148457457	148457457	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:148457457G>A	ENST00000325222.4	+	7	937	c.658G>A	c.(658-660)Gca>Aca	p.A220T	CUL1_ENST00000409469.1_Missense_Mutation_p.A220T|CUL1_ENST00000602748.1_Missense_Mutation_p.A220T	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGATGCATTTGCAAAGGGCCC	0.338																																						uc010lpg.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(658-660)Gca>Aca		Homo sapiens cullin 1 (CUL1), mRNA.							118.0	134.0	129.0					7																	148457457		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457457G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.658G>A	7.37:g.148457457G>A	ENSP00000326804:p.Ala220Thr					CUL1_uc003wey.3_Missense_Mutation_p.A220T|CUL1_uc003wez.3_Missense_Mutation_p.A110T	p.A220T	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		6	1184	+	Melanoma(164;0.15)		220					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.658G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491954	0.44352	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.29655	1.56;1.56	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.049898	0.85682	D	0.000000	T	0.26557	0.0649	L	0.33485	1.01	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.03344	-1.1046	10	0.31617	T	0.26	-23.1067	17.2933	0.87163	0.0:0.0:1.0:0.0	.	220	Q13616	CUL1_HUMAN	T	220;220;178;147	ENSP00000387160:A220T;ENSP00000326804:A220T	ENSP00000326804:A220T	A	+	1	0	CUL1	148088390	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.175000	0.77632	2.377000	0.81083	0.585000	0.79938	GCA		0.338	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592	
CNTLN	54875	broad.mit.edu	37	9	17135249	17135249	+	Silent	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:17135249G>A	ENST00000380647.3	+	1	270	c.186G>A	c.(184-186)ggG>ggA	p.G62G	CNTLN_ENST00000262360.5_Silent_p.G62G|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Silent_p.G62G|CNTLN_ENST00000380641.4_Silent_p.G62G			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	62					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTGAAGAAGGGTCAGGGGGCC	0.672																																						uc003zmz.2																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(184-186)ggG>ggA		Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.							13.0	18.0	17.0					9																	17135249		1912	4101	6013	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17135249G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.186G>A	9.37:g.17135249G>A						CNTLN_uc003zmx.4_Silent_p.G62G|CNTLN_uc003zmy.3_Silent_p.G62G|CNTLN_uc003zmw.2_Silent_p.G62G	p.G62G	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	0	212	+			62					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.186G>A	CCDS43789.1																																																																																				0.672	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
TEK	7010	broad.mit.edu	37	9	27229172	27229172	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:27229172C>T	ENST00000380036.4	+	23	3759	c.3317C>T	c.(3316-3318)aCg>aTg	p.T1106M	TEK_ENST00000519097.1_Missense_Mutation_p.T958M|TEK_ENST00000406359.4_Missense_Mutation_p.T1063M	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1106					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T1106M(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GTGAATACCACGCTTTATGAG	0.453																																						uc011lno.2																			1	Substitution - Missense(1)	p.T1106M(1)	central_nervous_system(1)	breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(3187-3189)aCg>aTg		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							182.0	164.0	170.0					9																	27229172		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27229172C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3317C>T	9.37:g.27229172C>T	ENSP00000369375:p.Thr1106Met					TEK_uc003zqi.4_Missense_Mutation_p.T1106M|TEK_uc011lnp.2_Missense_Mutation_p.T958M	p.T1063M	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	21	3630	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1106			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.3188C>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485377	0.84854	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69435	-0.4;-0.4;-0.4	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000065	T	0.68577	0.3016	N	0.08118	0	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.927;0.931;0.995	T	0.76769	-0.2837	10	0.87932	D	0	.	18.8488	0.92218	0.0:1.0:0.0:0.0	.	958;1139;1106	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	M	958;1106;1063	ENSP00000430686:T958M;ENSP00000369375:T1106M;ENSP00000383977:T1063M	ENSP00000369375:T1106M	T	+	2	0	TEK	27219172	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.825000	0.75293	2.565000	0.86533	0.655000	0.94253	ACG		0.453	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
NFX1	4799	broad.mit.edu	37	9	33294757	33294757	+	Missense_Mutation	SNP	A	A	C	rs147195056		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:33294757A>C	ENST00000379540.3	+	2	427	c.365A>C	c.(364-366)cAg>cCg	p.Q122P	NFX1_ENST00000318524.6_Missense_Mutation_p.Q122P|NFX1_ENST00000379521.4_Missense_Mutation_p.Q122P	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	122					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAGAAAGCACAGAGTCTTGCT	0.483																																						uc003zsr.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(364-366)cAg>cCg		Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.							111.0	113.0	112.0					9																	33294757		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33294757A>C	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.365A>C	9.37:g.33294757A>C	ENSP00000368856:p.Gln122Pro					NFX1_uc011lnw.2_Missense_Mutation_p.Q122P|NFX1_uc003zso.3_Missense_Mutation_p.Q122P|NFX1_uc003zsp.2_Missense_Mutation_p.Q122P|NFX1_uc010mjr.2_Missense_Mutation_p.Q122P|NFX1_uc003zsq.3_Missense_Mutation_p.Q122P	p.Q122P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	1	518	+			122					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.365A>C	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.831905	0.32421	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.43294	0.95;0.95;0.95	5.31	5.31	0.75309	.	0.094910	0.46442	D	0.000281	T	0.50120	0.1597	L	0.32530	0.975	0.19575	N	0.999961	D;D;D;D;D	0.71674	0.998;0.991;0.991;0.995;0.998	P;P;P;P;P	0.62649	0.905;0.69;0.69;0.77;0.905	T	0.45469	-0.9259	10	0.59425	D	0.04	.	13.2187	0.59875	1.0:0.0:0.0:0.0	.	122;6;122;122;122	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	P	122	ENSP00000368856:Q122P;ENSP00000368836:Q122P;ENSP00000317695:Q122P	ENSP00000317695:Q122P	Q	+	2	0	NFX1	33284757	0.730000	0.28100	0.074000	0.20217	0.210000	0.24377	3.456000	0.53000	2.000000	0.58554	0.450000	0.29827	CAG		0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219									tubulin, beta pseudogene 5									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667																																						uc010ncq.3																			2	Substitution - Missense(2)	p.L85F(2)	urinary_tract(1)|prostate(1)								c.(379-381)Ctc>Ttc		Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141070139C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070139C>T							p.L127F							3	1219	+									Missense_Mutation	SNP	ENST00000503395.1	37	c.379C>T																																																																																					0.667	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
BTK	695	broad.mit.edu	37	X	100611084	100611084	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chrX:100611084C>T	ENST00000308731.7	-	15	1685	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> D (in XLA).		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.A508T(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATTCCATGGCTTCACAGACA	0.547									Agammaglobulinemia, X-linked																													uc010nno.2																			1	Substitution - Missense(1)	p.A508T(1)	central_nervous_system(1)	breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1624-1626)Gcc>Acc		Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.							153.0	126.0	135.0					X																	100611084		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100611084C>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1522G>A	X.37:g.100611084C>T	ENSP00000308176:p.Ala508Thr					BTK_uc004ehf.2_Missense_Mutation_p.A8T|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.A78T|BTK_uc004ehg.2_Missense_Mutation_p.A508T|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Missense_Mutation_p.A508T	p.A542T	NM_000061	NP_000052	Q06187	BTK_HUMAN			14	1857	-			508		L -> P (in XLA; growth hormone deficiency).	Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1624G>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036006	0.93630	.	.	ENSG00000010671	ENST00000372855;ENST00000443591;ENST00000308731	D	0.92699	-3.09	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.051219	0.85682	D	0.000000	D	0.97046	0.9035	M	0.93016	3.37	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.996;0.995	D;D;D;P	0.73380	0.937;0.98;0.949;0.881	D	0.97985	1.0351	10	0.87932	D	0	.	18.0461	0.89332	0.0:1.0:0.0:0.0	.	179;179;508;508	Q3MS94;Q3MS96;B2RAW1;Q06187	.;.;.;BTK_HUMAN	T	57;179;508	ENSP00000308176:A508T	ENSP00000308176:A508T	A	-	1	0	BTK	100497740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.297000	0.77311	0.600000	0.82982	GCC		0.547	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	
