#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
SPEN	23013	broad.mit.edu	37	1	16260498	16260498	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:16260498C>G	ENST00000375759.3	+	11	7967	c.7763C>G	c.(7762-7764)cCt>cGt	p.P2588R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2588	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAACAGCACCTCCAGTGACA	0.522																																						uc001axk.1																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7762-7764)cCt>cGt		Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.							69.0	77.0	74.0					1																	16260498		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260498C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7763C>G	1.37:g.16260498C>G	ENSP00000364912:p.Pro2588Arg					SPEN_uc010obp.1_Missense_Mutation_p.P2547R	p.P2588R	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	10	7967	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2588			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7763C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.401353	0.01165	.	.	ENSG00000065526	ENST00000375759	T	0.09255	3.0	5.38	0.841	0.18918	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.16289	0.015	T	0.44772	-0.9306	9	0.19147	T	0.46	-0.2068	2.8683	0.05609	0.2091:0.292:0.0:0.4988	.	2588	Q96T58	MINT_HUMAN	R	2588	ENSP00000364912:P2588R	ENSP00000364912:P2588R	P	+	2	0	SPEN	16133085	0.000000	0.05858	0.010000	0.14722	0.123000	0.20343	0.712000	0.25779	0.269000	0.21961	-0.224000	0.12420	CCT		0.522	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
CLCNKB	1188	broad.mit.edu	37	1	16377403	16377403	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:16377403G>A	ENST00000375679.4	+	12	1198	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	CLCNKB_ENST00000375667.3_Missense_Mutation_p.D194N	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	363					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGCTGTTCGACAACCACTC	0.672																																						uc001axx.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1087-1089)Gac>Aac		Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	Niflumic Acid(DB04552)						43.0	47.0	46.0					1																	16377403		2202	4293	6495	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16377403G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1087G>A	1.37:g.16377403G>A	ENSP00000364831:p.Asp363Asn					CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Missense_Mutation_p.D194N|CLCNKA_uc001axy.4_Missense_Mutation_p.D194N	p.D363N	NM_000085	NP_000076	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	11	1223	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	363					B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1087G>A	CCDS168.1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.109050	0.56398	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	D;D	0.94000	-3.33;-3.33	4.73	4.73	0.59995	Chloride channel, core (2);	0.046515	0.85682	D	0.000000	D	0.95487	0.8534	M	0.62088	1.915	0.52501	D	0.999957	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	D	0.95843	0.8868	10	0.72032	D	0.01	.	14.4521	0.67392	0.0:0.0:1.0:0.0	.	194;363	Q5T5Q7;P51801	.;CLCKB_HUMAN	N	363;235;194	ENSP00000364831:D363N;ENSP00000364819:D194N	ENSP00000332055:D235N	D	+	1	0	CLCNKB	16249990	1.000000	0.71417	0.716000	0.30569	0.043000	0.13939	6.164000	0.71885	2.172000	0.68678	0.561000	0.74099	GAC		0.672	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	
LDLRAD2	401944	broad.mit.edu	37	1	22140914	22140914	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:22140914C>G	ENST00000344642.2	+	2	296	c.109C>G	c.(109-111)Cag>Gag	p.Q37E	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.Q37E	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	37						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACTGTGCGGGCAGACGTGGCA	0.701																																						uc001bfg.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(109-111)Cag>Gag		Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA.							11.0	12.0	12.0					1																	22140914		2063	4100	6163	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22140914C>G	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.109C>G	1.37:g.22140914C>G	ENSP00000340988:p.Gln37Glu						p.Q37E	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	1	296	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	37					B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.109C>G	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994154	0.54041	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.50001	0.76;0.76	4.28	4.28	0.50868	CUB (2);	0.682462	0.12352	N	0.476517	T	0.33235	0.0856	L	0.38175	1.15	0.33517	D	0.591901	B	0.32918	0.39	B	0.27380	0.079	T	0.28038	-1.0056	10	0.02654	T	1	-1.225	14.2354	0.65922	0.0:1.0:0.0:0.0	.	37	Q5SZI1	LRAD2_HUMAN	E	37	ENSP00000340988:Q37E;ENSP00000444097:Q37E	ENSP00000340988:Q37E	Q	+	1	0	LDLRAD2	22013501	1.000000	0.71417	0.815000	0.32552	0.443000	0.32047	6.243000	0.72384	2.227000	0.72691	0.297000	0.19635	CAG		0.701	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693	
HSPG2	3339	broad.mit.edu	37	1	22165399	22165399	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:22165399G>A	ENST00000374695.3	-	74	10148	c.10069C>T	c.(10069-10071)Cct>Tct	p.P3357S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3357	Ig-like C2-type 19.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GAGTCCTCAGGGGCTGCACGC	0.682																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10072-10074)Cct>Tct		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)						18.0	19.0	19.0					1																	22165399		2202	4298	6500	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22165399G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10069C>T	1.37:g.22165399G>A	ENSP00000363827:p.Pro3357Ser					HSPG2_uc001bfj.3_Missense_Mutation_p.P3357S	p.P3358S	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	73	10112	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3357			Ig-like C2-type 19.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10072C>T	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.897|6.897	0.534992|0.534992	0.13188|0.13188	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374676|ENST00000374695	.|T	.|0.28069	.|1.63	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.465803|0.465803	0.15921|0.15921	N|N	0.238121|0.238121	T|T	0.23926|0.23926	0.0579|0.0579	N|N	0.12831|0.12831	0.26|0.26	0.09310|0.09310	N|N	1|1	.|B;D	.|0.53462	.|0.086;0.96	.|B;P	.|0.57244	.|0.174;0.816	T|T	0.11131|0.11131	-1.0600|-1.0600	7|10	0.87932|0.09084	D|T	0|0.74	.|.	6.0508|6.0508	0.19785|0.19785	0.1016:0.1944:0.704:0.0|0.1016:0.1944:0.704:0.0	.|.	.|1297;3357	.|Q59EG0;P98160	.|.;PGBM_HUMAN	L|S	34|3357	.|ENSP00000363827:P3357S	ENSP00000363808:P34L|ENSP00000363827:P3357S	P|P	-|-	2|1	0|0	HSPG2|HSPG2	22037986|22037986	0.397000|0.397000	0.25270|0.25270	0.179000|0.179000	0.23059|0.23059	0.470000|0.470000	0.32858|0.32858	1.400000|1.400000	0.34577|0.34577	2.232000|2.232000	0.73038|0.73038	0.563000|0.563000	0.77884|0.77884	CCC|CCT		0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
ELAVL4	1996	broad.mit.edu	37	1	50610767	50610767	+	Missense_Mutation	SNP	G	G	A	rs116391279		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:50610767G>A	ENST00000371823.4	+	2	372	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371824.1_Missense_Mutation_p.V50I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.V67I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.V50I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.V55I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.V53I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.V55I	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	50	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAACCTCATCGTCAACTATTT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		17918	0.0		0.001	False		,,,				2504	0.0					uc001csb.2																			0		p.I49I(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(148-150)Gtc>Atc		Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	114.0	104.0	107.0		148,199,148,157,148	6.2	1.0	1	dbSNP_132	107	5,8595	5.0+/-18.6	0,5,4295	yes	missense,missense,missense,missense,missense	ELAVL4	NM_001144774.1,NM_001144775.1,NM_001144776.1,NM_001144777.1,NM_021952.3	29,29,29,29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign,benign,benign,benign,benign	50/367,67/384,50/367,53/370,50/381	50610767	5,13001	2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50610767G>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.148G>A	1.37:g.50610767G>A	ENSP00000360888:p.Val50Ile					ELAVL4_uc001cry.3_Missense_Mutation_p.V53I|ELAVL4_uc001crz.3_Missense_Mutation_p.V50I|ELAVL4_uc001csa.3_Missense_Mutation_p.V67I|ELAVL4_uc001csc.3_Missense_Mutation_p.V50I|ELAVL4_uc009vyu.3_Missense_Mutation_p.V55I|ELAVL4_uc010omz.2_Missense_Mutation_p.V55I	p.V50I	NM_021952	NP_068771	P26378	ELAV4_HUMAN			1	416	+			50			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.148G>A	CCDS553.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.04	3.534587	0.64972	0.0	5.81E-4	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69	6.16	6.16	0.99307	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.053951	0.64402	N	0.000001	T	0.22820	0.0551	L	0.41492	1.28	0.80722	D	1	B;P;P;P;B;P;B	0.48834	0.358;0.734;0.916;0.498;0.442;0.507;0.358	B;B;B;B;B;B;B	0.34824	0.08;0.148;0.19;0.08;0.104;0.104;0.167	T	0.01643	-1.1305	10	0.38643	T	0.18	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	55;55;50;50;67;50;53	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	I	53;50;67;50;50;55;55	ENSP00000399939:V53I;ENSP00000360892:V50I;ENSP00000349594:V67I;ENSP00000360889:V50I;ENSP00000360888:V50I;ENSP00000360886:V55I;ENSP00000360884:V55I	ENSP00000349594:V67I	V	+	1	0	ELAVL4	50383354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GTC		0.448	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	
DMRTB1	63948	broad.mit.edu	37	1	53925199	53925199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:53925199G>T	ENST00000371445.3	+	1	128	c.73G>T	c.(73-75)Gga>Tga	p.G25*		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	25					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCCCGTCAAGGGACACGCGGG	0.602																																						uc001cvq.1																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(73-75)Gga>Tga		Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.							37.0	33.0	34.0					1																	53925199		2203	4300	6503	SO:0001587	stop_gained	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53925199G>T	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.73G>T	1.37:g.53925199G>T	ENSP00000360500:p.Gly25*						p.G25*	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			0	128	+			25					Q96SD2	Nonsense_Mutation	SNP	ENST00000371445.3	37	c.73G>T	CCDS581.1	.	.	.	.	.	.	.	.	.	.	G	38	6.849541	0.97885	.	.	ENSG00000143006	ENST00000371445	.	.	.	4.83	4.83	0.62350	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.6242	18.1206	0.89569	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000360500:G25X	G	+	1	0	DMRTB1	53697787	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.557000	0.98129	2.502000	0.84385	0.655000	0.94253	GGA		0.602	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1		
ARHGAP29	9411	broad.mit.edu	37	1	94650593	94650594	+	Frame_Shift_Ins	INS	-	-	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:94650593_94650594insT	ENST00000260526.6	-	18	2125_2126	c.1943_1944insA	c.(1942-1944)aagfs	p.K648fs	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	648					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTCCAAACACTTTCGATGACA	0.361																																						uc001dqj.4																			0		p.R647Q(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1942-1944)aagfs		Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.																																				SO:0001589	frameshift_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94650593_94650594insT		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1944dupA	1.37:g.94650596_94650596dupT	ENSP00000260526:p.Lys648fs					ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Frame_Shift_Ins_p.K214fs	p.K648fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	17	2312_2313	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	648					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Frame_Shift_Ins	INS	ENST00000260526.6	37	c.1943_1944insA	CCDS748.1																																																																																				0.361	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
CD2	914	broad.mit.edu	37	1	117311354	117311354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:117311354delA	ENST00000369478.3	+	5	1113	c.1005delA	c.(1003-1005)ccafs	p.P335fs		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	335	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAGTTCAGCCAAAACCTCCCC	0.517																																					NSCLC(14;263 555 26380 43512 51332)	uc001egu.4																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(1003-1005)ccafs		Homo sapiens CD2 molecule (CD2), mRNA.	Alefacept(DB00092)						72.0	81.0	78.0					1																	117311354		2203	4300	6503	SO:0001589	frameshift_variant	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117311354delA	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.1005delA	1.37:g.117311354delA	ENSP00000358490:p.Pro335fs						p.P335fs	NM_001767	NP_001758	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	4	1034	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	335			Pro-rich.		Q96TE5	Frame_Shift_Del	DEL	ENST00000369478.3	37	c.1005delA	CCDS889.1																																																																																				0.517	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767	
GPATCH4	54865	broad.mit.edu	37	1	156565503	156565504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:156565503_156565504insT	ENST00000438976.2	-	8	659_660	c.629_630insA	c.(628-630)aagfs	p.K210fs	GPATCH4_ENST00000368232.4_Frame_Shift_Ins_p.K205fs|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	205							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGGG	0.535																																						uc001fpm.3																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(628-630)aagfs		Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	54865					intracellular	nucleic acid binding	g.chr1:156565503_156565504insT	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.630dupA	1.37:g.156565511_156565511dupT	ENSP00000396441:p.Lys210fs					APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Frame_Shift_Ins_p.K205fs	p.K210fs	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN			7	677_678	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		205					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Frame_Shift_Ins	INS	ENST00000438976.2	37	c.629_630insA	CCDS44245.1																																																																																				0.535	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725	
OR10R2	343406	broad.mit.edu	37	1	158450132	158450132	+	Silent	SNP	T	T	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:158450132T>C	ENST00000368152.1	+	1	465	c.465T>C	c.(463-465)ctT>ctC	p.L155L	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACCCCACTCTTATGAGCTGGC	0.473																																						uc010pik.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(463-465)ctT>ctC		Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.							179.0	167.0	171.0					1																	158450132		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450132T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.465T>C	1.37:g.158450132T>C						AK057554_uc001fso.1_Non-coding_Transcript	p.L155L	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			0	465	+	all_hematologic(112;0.0378)		155					Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.465T>C	CCDS30898.1																																																																																				0.473	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472	
RCSD1	92241	broad.mit.edu	37	1	167667016	167667016	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:167667016C>T	ENST00000367854.3	+	6	1486	c.1155C>T	c.(1153-1155)acC>acT	p.T385T	RCSD1_ENST00000537350.1_Silent_p.T355T	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	385					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCCCCCAGACCGGCCCTGCCC	0.642																																						uc001gem.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(1153-1155)acC>acT		Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.							15.0	20.0	18.0					1																	167667016		2187	4278	6465	SO:0001819	synonymous_variant	92241							g.chr1:167667016C>T	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.1155C>T	1.37:g.167667016C>T						RCSD1_uc010pli.2_Silent_p.T355T	p.T385T	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN			5	1342	+	all_hematologic(923;0.215)		385					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	ENST00000367854.3	37	c.1155C>T	CCDS1263.1																																																																																				0.642	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862	
NME7	29922	broad.mit.edu	37	1	169138771	169138771	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:169138771G>A	ENST00000367811.3	-	11	1268	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	NME7_ENST00000472647.1_Missense_Mutation_p.P302S	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	338					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGAGTTCCAGGGCGTAAATGC	0.368																																						uc001gfu.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(1012-1014)Cct>Tct		Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.							161.0	169.0	167.0					1																	169138771		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169138771G>A	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.1012C>T	1.37:g.169138771G>A	ENSP00000356785:p.Pro338Ser					NME7_uc001gft.3_Missense_Mutation_p.P302S|NME7_uc010plq.2_Non-coding_Transcript	p.P338S	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN			10	1250	-	all_hematologic(923;0.208)		338					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.1012C>T	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425084	0.83667	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.58060	0.36;0.36	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.88704	2.975	0.51233	D	0.999918	D	0.57571	0.98	P	0.56612	0.802	T	0.75056	-0.3452	9	0.62326	D	0.03	-18.7239	18.1428	0.89646	0.0:0.0:1.0:0.0	.	338	Q9Y5B8	NDK7_HUMAN	S	302;338	ENSP00000433341:P302S;ENSP00000356785:P338S	ENSP00000356785:P338S	P	-	1	0	NME7	167405395	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.193000	0.65120	2.575000	0.86900	0.655000	0.94253	CCT		0.368	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330	
LAMC1	3915	broad.mit.edu	37	1	183111900	183111900	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:183111900A>G	ENST00000258341.4	+	28	5062	c.4805A>G	c.(4804-4806)aAc>aGc	p.N1602S	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1602	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GGCTGCTTCAACACCCCGTCC	0.527																																						uc001gpy.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(4804-4806)aAc>aGc		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						105.0	94.0	98.0					1																	183111900		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183111900A>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4805A>G	1.37:g.183111900A>G	ENSP00000258341:p.Asn1602Ser						p.N1602S	NM_002293	NP_002284	P11047	LAMC1_HUMAN			27	5062	+			1602			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4805A>G	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874111	0.72180	.	.	ENSG00000135862	ENST00000258341	T	0.30981	1.51	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.41710	1.295	0.80722	D	1	P	0.34864	0.473	B	0.24848	0.056	T	0.03139	-1.1068	10	0.33940	T	0.23	.	15.7201	0.77700	1.0:0.0:0.0:0.0	.	1602	P11047	LAMC1_HUMAN	S	1602	ENSP00000258341:N1602S	ENSP00000258341:N1602S	N	+	2	0	LAMC1	181378523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.508000	0.90525	2.110000	0.64415	0.533000	0.62120	AAC		0.527	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
HMCN1	83872	broad.mit.edu	37	1	186107024	186107024	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:186107024A>T	ENST00000271588.4	+	89	14073	c.13844A>T	c.(13843-13845)aAt>aTt	p.N4615I	HMCN1_ENST00000367492.2_Missense_Mutation_p.N4615I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4615	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						ACTTGCAATAATCCATCAGTT	0.493																																						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.(13843-13845)aAt>aTt		Homo sapiens hemicentin 1 (HMCN1), mRNA.							165.0	150.0	155.0					1																	186107024		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186107024A>T	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.13844A>T	1.37:g.186107024A>T	ENSP00000271588:p.Asn4615Ile					MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.N184I	p.N4615I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			88	14073	+			4615			TSP type-1 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13844A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746465	0.49257	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.54279	0.58;0.58	5.65	5.65	0.86999	.	0.129133	0.64402	D	0.000002	T	0.73210	0.3558	M	0.93594	3.435	0.40523	D	0.980852	P	0.46512	0.879	P	0.54210	0.745	T	0.80694	-0.1268	10	0.87932	D	0	.	10.989	0.47539	0.9277:0.0:0.0723:0.0	.	4615	Q96RW7	HMCN1_HUMAN	I	4615	ENSP00000271588:N4615I;ENSP00000356462:N4615I	ENSP00000271588:N4615I	N	+	2	0	HMCN1	184373647	0.998000	0.40836	0.088000	0.20740	0.162000	0.22319	2.916000	0.48813	2.149000	0.67028	0.454000	0.30748	AAT		0.493	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
LGALS8	3964	broad.mit.edu	37	1	236711404	236711404	+	Missense_Mutation	SNP	T	T	A	rs576833566		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:236711404T>A	ENST00000366584.4	+	10	1463	c.897T>A	c.(895-897)agT>agA	p.S299R	LGALS8_ENST00000341872.6_Missense_Mutation_p.S299R|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000352231.2_Missense_Mutation_p.S341R|LGALS8_ENST00000525042.1_Missense_Mutation_p.S282R|LGALS8_ENST00000526589.1_Missense_Mutation_p.S341R|LGALS8_ENST00000527974.1_Missense_Mutation_p.S341R|LGALS8_ENST00000526634.1_Missense_Mutation_p.S299R|LGALS8_ENST00000450372.2_Missense_Mutation_p.S341R|LGALS8_ENST00000323938.6_Missense_Mutation_p.S272R|LGALS8_ENST00000416919.2_Missense_Mutation_p.S282R	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	299	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCTCAGCAGTATTGACACGC	0.408																																						uc001hxz.2																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(895-897)agT>agA		Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.							119.0	113.0	115.0					1																	236711404		2203	4300	6503	SO:0001583	missense	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236711404T>A	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.897T>A	1.37:g.236711404T>A	ENSP00000355543:p.Ser299Arg					LGALS8_uc001hxw.2_Missense_Mutation_p.S341R|LGALS8_uc001hxy.2_Missense_Mutation_p.S341R|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.S299R|LGALS8_uc001hyc.2_Missense_Mutation_p.S282R	p.S299R	NM_201543	NP_963838	O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		10	1278	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	299			Galectin 2.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.897T>A	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477528	0.26511	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42	4.98	-5.45	0.02616	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.803616	0.12158	N	0.494291	T	0.02929	0.0087	N	0.16790	0.44	0.09310	N	1	B;B;B	0.15473	0.013;0.01;0.011	B;B;B	0.21546	0.013;0.035;0.008	T	0.41484	-0.9506	10	0.30078	T	0.28	-2.8663	3.7358	0.08510	0.0952:0.3995:0.2215:0.2837	.	282;299;341	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	R	341;341;341;299;341;299;340;282;272;299;282	ENSP00000431398:S341R;ENSP00000309576:S341R;ENSP00000435460:S341R;ENSP00000342139:S299R;ENSP00000408657:S341R;ENSP00000355543:S299R;ENSP00000410843:S282R;ENSP00000434860:S272R;ENSP00000437040:S299R;ENSP00000431884:S282R	ENSP00000434860:S272R	S	+	3	2	LGALS8	234778027	0.000000	0.05858	0.000000	0.03702	0.952000	0.60782	-0.898000	0.04105	-0.733000	0.04850	-0.290000	0.09829	AGT		0.408	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499	
MYO3A	53904	broad.mit.edu	37	10	26312961	26312961	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr10:26312961C>T	ENST00000265944.5	+	9	908	c.742C>T	c.(742-744)Cca>Tca	p.P248S	MYO3A_ENST00000543632.1_Missense_Mutation_p.P248S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAATCCACCCCCAAAACTAAG	0.388																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(742-744)Cca>Tca		Homo sapiens myosin IIIA (MYO3A), mRNA.							134.0	137.0	136.0					10																	26312961		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26312961C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.742C>T	10.37:g.26312961C>T	ENSP00000265944:p.Pro248Ser					MYO3A_uc009xko.1_Missense_Mutation_p.P248S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P248S	p.P248S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			8	1102	+			248			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.742C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818258	0.90790	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.65364	-0.15;-0.15	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.98	T	0.78578	-0.2150	10	0.87932	D	0	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	248;248;248	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	S	248	ENSP00000265944:P248S;ENSP00000445909:P248S	ENSP00000265944:P248S	P	+	1	0	MYO3A	26352967	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	6.991000	0.76232	2.781000	0.95711	0.650000	0.86243	CCA		0.388	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
GDF10	2662	broad.mit.edu	37	10	48429323	48429323	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr10:48429323C>T	ENST00000224605.2	-	2	828	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	188					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CATGGCCCCGCGGAGTAGCCC	0.731																																						uc001jfb.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(562-564)cGc>cAc		Homo sapiens growth differentiation factor 10 (GDF10), mRNA.							11.0	17.0	15.0					10																	48429323		2186	4263	6449	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429323C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.563G>A	10.37:g.48429323C>T	ENSP00000224605:p.Arg188His					GDF10_uc009xnp.3_Missense_Mutation_p.R187H|GDF10_uc009xnq.2_Missense_Mutation_p.R188H	p.R188H	NM_004962	NP_004953	P55107	BMP3B_HUMAN			1	991	-			188					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.563G>A	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707339	0.48412	.	.	ENSG00000107623	ENST00000224605	T	0.75050	-0.9	5.44	4.43	0.53597	.	0.248541	0.39909	N	0.001222	T	0.77611	0.4156	L	0.54323	1.7	0.31736	N	0.636399	D	0.76494	0.999	D	0.64687	0.928	T	0.77874	-0.2425	9	.	.	.	.	4.7708	0.13155	0.0:0.7899:0.0:0.2101	.	188	P55107	BMP3B_HUMAN	H	188	ENSP00000224605:R188H	.	R	-	2	0	GDF10	48049329	1.000000	0.71417	0.989000	0.46669	0.645000	0.38454	4.444000	0.60001	2.568000	0.86640	0.555000	0.69702	CGC		0.731	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962	
ZNF195	7748	broad.mit.edu	37	11	3381676	3381676	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:3381676C>G	ENST00000399602.4	-	6	688	c.562G>C	c.(562-564)Gac>Cac	p.D188H	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.D120H|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000343338.7_Missense_Mutation_p.D120H|ZNF195_ENST00000005082.9_Missense_Mutation_p.D165H|ZNF195_ENST00000354599.6_Missense_Mutation_p.D116H|ZNF195_ENST00000526601.1_Missense_Mutation_p.D169H	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	188	Spacer.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTTCCCAGTCTTTCCTTAAA	0.343																																						uc001lxt.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(562-564)Gac>Cac		Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.							70.0	70.0	70.0					11																	3381676		1844	4084	5928	SO:0001583	missense	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381676C>G		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.562G>C	11.37:g.3381676C>G	ENSP00000382511:p.Asp188His					ZNF195_uc010qxr.2_Missense_Mutation_p.D169H|ZNF195_uc009ydz.3_Missense_Mutation_p.D143H|ZNF195_uc001lxu.3_Missense_Mutation_p.D120H|ZNF195_uc001lxv.3_Missense_Mutation_p.D165H|ZNF195_uc021qck.1_Missense_Mutation_p.D120H|ZNF195_uc001lxs.3_Missense_Mutation_p.D116H	p.D188H	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	5	744	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	188			Spacer.		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.562G>C	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.645338	0.29246	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410;ENST00000533036;ENST00000529678	T;T;T;T;T;T;T;T;T	0.07327	3.23;3.21;3.2;3.2;3.22;3.22;3.81;6.29;6.13	0.826	-0.59	0.11679	.	.	.	.	.	T	0.17365	0.0417	L	0.58510	1.815	0.09310	N	1	D;D;D;D;D;D	0.89917	0.984;0.996;1.0;0.999;0.999;0.999	D;P;D;D;D;D	0.83275	0.986;0.769;0.996;0.979;0.99;0.979	T	0.18650	-1.0330	9	0.27082	T	0.32	.	4.2585	0.10730	0.0:0.5608:0.4392:0.0	.	169;47;165;120;188;116	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	H	116;188;120;120;165;169;143;184;120	ENSP00000346613:D116H;ENSP00000382511:D188H;ENSP00000344483:D120H;ENSP00000387998:D120H;ENSP00000005082:D165H;ENSP00000435828:D169H;ENSP00000431937:D143H;ENSP00000433911:D184H;ENSP00000434715:D120H	ENSP00000005082:D165H	D	-	1	0	ZNF195	3338252	0.005000	0.15991	0.005000	0.12908	0.443000	0.32047	0.620000	0.24403	-0.202000	0.10268	0.313000	0.20887	GAC		0.343	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2		
CD44	960	broad.mit.edu	37	11	35226085	35226085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:35226085G>T	ENST00000428726.2	+	10	1303	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.E394*|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Nonsense_Mutation_p.E351*|CD44_ENST00000278386.6_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.E395*|CD44_ENST00000263398.6_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000449691.2_Intron|CD44_ENST00000352818.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	394	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TAGTACAACGGAAGAAACAGC	0.453																																						uc001mvu.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1180-1182)Gaa>Taa		Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						156.0	132.0	140.0					11																	35226085		2202	4298	6500	SO:0001587	stop_gained	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35226085G>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1180G>T	11.37:g.35226085G>T	ENSP00000398632:p.Glu394*					CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Nonsense_Mutation_p.E351*|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Intron|CD44_uc010ret.2_Intron	p.E394*	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		9	1614	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	394			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Nonsense_Mutation	SNP	ENST00000428726.2	37	c.1180G>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.33|18.33	3.600750|3.600750	0.66332|0.66332	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000437706;ENST00000428726;ENST00000531110;ENST00000528672|ENST00000526553	.|.	.|.	.|.	5.05|5.05	4.06|4.06	0.47325|0.47325	.|.	0.546643|.	0.16792|.	N|.	0.199353|.	.|T	.|0.61236	.|0.2331	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57207	.|-0.7851	.|4	0.46703|.	T|.	0.11|.	-11.0094|-11.0094	10.7323|10.7323	0.46104|0.46104	0.0:0.1927:0.8073:0.0|0.0:0.1927:0.8073:0.0	.|.	.|.	.|.	.|.	X|V	351;395;394;394;106;46|47	.|.	ENSP00000389830:E351X|.	E|G	+|+	1|2	0|0	CD44|CD44	35182661|35182661	0.989000|0.989000	0.36119|0.36119	0.807000|0.807000	0.32361|0.32361	0.003000|0.003000	0.03518|0.03518	2.509000|2.509000	0.45459|0.45459	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.453	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610	
PTPRJ	5795	broad.mit.edu	37	11	48134462	48134462	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:48134462C>T	ENST00000418331.2	+	3	631	c.279C>T	c.(277-279)aaC>aaT	p.N93N	PTPRJ_ENST00000526550.1_3'UTR|PTPRJ_ENST00000440289.2_Silent_p.N93N	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	93					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTGGAGCCAACGATAGTTTAA	0.453																																						uc001ngp.4																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(277-279)aaC>aaT		Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.							119.0	115.0	116.0					11																	48134462		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48134462C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.279C>T	11.37:g.48134462C>T						PTPRJ_uc001ngo.4_Silent_p.N93N	p.N93N	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			2	634	+			93					Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.279C>T	CCDS7945.1																																																																																				0.453	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		
SLC29A2	3177	broad.mit.edu	37	11	66133408	66133409	+	Splice_Site	DNP	CA	CA	AC			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:66133408_66133409CA>AC	ENST00000357440.2	-	10	1285_1286	c.1057_1058TG>GT	c.(1057-1059)TGg>GTg	p.W353V	SLC29A2_ENST00000544554.1_Splice_Site_p.W353V|SLC29A2_ENST00000311161.7_Splice_Site_p.V308G|SLC29A2_ENST00000546034.1_Splice_Site_p.W353V	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	353					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.W353S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGTGCTTACCCACAGGAAGTAA	0.535																																						uc001oht.3																			1	Substitution - Missense(1)	p.W353S(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.e10+1		Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.																																				SO:0001630	splice_region_variant	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66133408_66133409CA>AC	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.1057_1058delinsAC	11.37:g.66133408_66133409delinsAC						SLC29A2_uc009yrf.3_Splice_Site_p.W233_splice|SLC29A2_uc001ohu.3_Splice_Site_p.W353_splice|SLC29A2_uc001ohv.3_Splice_Site_p.A309_splice|AX747485_uc001ohw.1_5'Flank	p.W353_splice	NM_001532	NP_001523	Q14542	S29A2_HUMAN			10	1288	-			353					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	DNP	ENST00000357440.2	37	c.1059_splice	CCDS8137.1																																																																																				0.535	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532	Missense_Mutation
DDIAS	220042	broad.mit.edu	37	11	82639902	82639905	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:82639902_82639905delCAAA	ENST00000533655.1	+	4	409_412	c.197_200delCAAA	c.(196-201)tcaaacfs	p.SN66fs	C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000524921.1_Frame_Shift_Del_p.SN66fs|C11orf82_ENST00000525361.1_Frame_Shift_Del_p.SN66fs|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000430323.2_Frame_Shift_Del_p.SN66fs|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000525388.1_Frame_Shift_Del_p.SN66fs	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		66					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GTTGCAGAATCAAACAAATTGTTT	0.343																																						uc001ozt.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(196-201)tcaaacfs		Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.																																				SO:0001589	frameshift_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82639902_82639905delCAAA																												ENST00000533655.1:c.197_200delCAAA	11.37:g.82639906_82639909delCAAA	ENSP00000435421:p.Ser66fs					C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_Intron|C11orf82_uc009yvd.2_Frame_Shift_Del_p.S66fs	p.S66fs	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			3	441_444	+			66					Q96LK6|Q9H856	Frame_Shift_Del	DEL	ENST00000533655.1	37	c.197_200delCAAA	CCDS8263.1																																																																																				0.343	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1		
ROBO4	54538	broad.mit.edu	37	11	124764984	124764984	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:124764984C>T	ENST00000306534.3	-	7	1627	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	ROBO4_ENST00000533054.1_Missense_Mutation_p.G236D|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	381	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TACCTGGTAGCCACGGATGAT	0.542																																						uc001qbg.3																			0		p.R380R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(1141-1143)gGc>gAc		Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.							168.0	128.0	141.0					11																	124764984		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124764984C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1142G>A	11.37:g.124764984C>T	ENSP00000304945:p.Gly381Asp					ROBO4_uc010sas.2_Missense_Mutation_p.G236D|ROBO4_uc001qbh.2_Missense_Mutation_p.G271D|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'UTR	p.G381D	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1282	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	381			Fibronectin type-III 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1142G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236849	0.79800	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.61040	0.14;0.14	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38164	N	0.001791	T	0.74313	0.3700	M	0.71296	2.17	0.48571	D	0.999672	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73107	-0.4087	10	0.37606	T	0.19	.	15.8196	0.78628	0.0:1.0:0.0:0.0	.	271;381	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	D	381;271;236	ENSP00000304945:G381D;ENSP00000437129:G236D	ENSP00000304945:G381D	G	-	2	0	ROBO4	124270194	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.368000	0.44222	2.506000	0.84524	0.563000	0.77884	GGC		0.542	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
VEZT	55591	broad.mit.edu	37	12	95660405	95660405	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:95660405C>T	ENST00000436874.1	+	5	812	c.707C>T	c.(706-708)aCa>aTa	p.T236I	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.T188I	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	236					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGAGGATTTACACTGTGAGTT	0.313																																						uc001tdz.2																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(706-708)aCa>aTa		Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.							48.0	45.0	46.0					12																	95660405		1792	4064	5856	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95660405C>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.707C>T	12.37:g.95660405C>T	ENSP00000410083:p.Thr236Ile					VEZT_uc001tds.3_Missense_Mutation_p.T188I|VEZT_uc001tdv.3_Missense_Mutation_p.T205I|VEZT_uc009zsy.1_Missense_Mutation_p.T78I|VEZT_uc001tdr.2_Missense_Mutation_p.T78I|VEZT_uc001tdt.2_Missense_Mutation_p.T188I|VEZT_uc009zsz.1_Missense_Mutation_p.T236I|VEZT_uc001tdw.1_Missense_Mutation_p.T188I|VEZT_uc009zta.1_Missense_Mutation_p.T188I	p.T236I	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			4	812	+			236					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.707C>T	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825855	0.90955	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.48201	0.82;0.82;0.82	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.52364	1.645	0.80722	D	1	D;D;D;D	0.89917	0.966;1.0;1.0;1.0	P;D;D;D	0.91635	0.862;0.999;0.999;0.999	T	0.66320	-0.5953	10	0.59425	D	0.04	-12.5246	19.0822	0.93187	0.0:1.0:0.0:0.0	.	236;236;188;188	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	I	236;188;188;236	ENSP00000410083:T236I;ENSP00000261219:T188I;ENSP00000380894:T188I	ENSP00000261219:T188I	T	+	2	0	VEZT	94184536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.087000	0.76893	2.559000	0.86315	0.591000	0.81541	ACA		0.313	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599	
STAB2	55576	broad.mit.edu	37	12	104147041	104147041	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:104147041G>A	ENST00000388887.2	+	61	6828	c.6624G>A	c.(6622-6624)caG>caA	p.Q2208Q	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACTGGGCCAGTATAAGCTGA	0.567																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6622-6624)caG>caA		Homo sapiens stabilin 2 (STAB2), mRNA.							96.0	84.0	88.0					12																	104147041		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104147041G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6624G>A	12.37:g.104147041G>A						STAB2_uc009zug.3_Non-coding_Transcript	p.Q2208Q	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			60	6810	+			2208			Link.			Silent	SNP	ENST00000388887.2	37	c.6624G>A	CCDS31888.1																																																																																				0.567	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
ABCB9	23457	broad.mit.edu	37	12	123434439	123434439	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:123434439C>T	ENST00000542678.1	-	4	3581	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ABCB9_ENST00000392439.3_Missense_Mutation_p.G248D|ABCB9_ENST00000442028.2_Missense_Mutation_p.G248D|ABCB9_ENST00000442833.2_Missense_Mutation_p.G248D|ABCB9_ENST00000346530.5_Missense_Mutation_p.G248D|ABCB9_ENST00000344275.7_Missense_Mutation_p.G248D|ABCB9_ENST00000280560.8_Missense_Mutation_p.G248D|ABCB9_ENST00000540285.1_Missense_Mutation_p.G248D			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	248	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGTAAAAATGCCGCCCCGAAT	0.522																																					Ovarian(49;786 1333 9175 38236)	uc001udm.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(742-744)gGc>gAc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.							141.0	142.0	141.0					12																	123434439		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123434439C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.743G>A	12.37:g.123434439C>T	ENSP00000440288:p.Gly248Asp					ABCB9_uc021rfo.1_Missense_Mutation_p.G248D|ABCB9_uc021rfp.1_Missense_Mutation_p.G248D|ABCB9_uc001udo.4_Missense_Mutation_p.G248D|ABCB9_uc010taj.2_Missense_Mutation_p.G248D|ABCB9_uc001udq.3_Missense_Mutation_p.G30D|ABCB9_uc021rfq.1_Missense_Mutation_p.G248D|ABCB9_uc001udr.3_Missense_Mutation_p.G248D	p.G248D	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	3	1053	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		248			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.743G>A	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318691	0.95682	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000541424	T;D;T;T;T;T;D	0.91686	-1.36;-2.89;-1.36;-1.36;-1.36;-1.36;-2.54	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.995;1.0	D;D;D;D;D	0.91635	0.995;0.999;0.996;0.965;0.999	D	0.95576	0.8642	10	0.36615	T	0.2	-41.8864	20.1278	0.97990	0.0:1.0:0.0:0.0	.	248;248;30;248;248	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	D	248;248;248;248;248;248;27	ENSP00000280560:G248D;ENSP00000441734:G248D;ENSP00000280559:G248D;ENSP00000376234:G248D;ENSP00000440288:G248D;ENSP00000394898:G248D;ENSP00000440138:G27D	ENSP00000280560:G248D	G	-	2	0	ABCB9	122000392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.768000	0.95171	0.561000	0.74099	GGC		0.522	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624	
NCOR2	9612	broad.mit.edu	37	12	124857156	124857156	+	Splice_Site	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:124857156G>A	ENST00000405201.1	-	20	2219	c.2219C>T	c.(2218-2220)gCc>gTc	p.A740V	NCOR2_ENST00000404121.2_Splice_Site_p.A293V|NCOR2_ENST00000397355.1_Splice_Site_p.A723V|NCOR2_ENST00000404621.1_Splice_Site_p.A722V|NCOR2_ENST00000429285.2_Splice_Site_p.A722V|NCOR2_ENST00000356219.3_Splice_Site_p.A740V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	740					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTTGACAGTGGCTGTGCAGGG	0.647																																						uc021rga.1																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e20-1		Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.							42.0	48.0	46.0					12																	124857156		2128	4234	6362	SO:0001630	splice_region_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124857156G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2219-1C>T	12.37:g.124857156G>A						NCOR2_uc021rgb.1_Splice_Site_p.A723_splice|NCOR2_uc010tbb.2_Splice_Site_p.A740_splice|NCOR2_uc010tbc.2_Splice_Site_p.A722_splice|NCOR2_uc021rgc.1_Splice_Site_p.A722_splice|NCOR2_uc010tba.2_Splice_Site_p.A740_splice|NCOR2_uc001ugj.1_Splice_Site_p.A740_splice	p.A740_splice	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	20	2336	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		740					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2219_splice	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396879	0.25205	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000448614	T;T;T;T;T;T;T;T	0.53640	2.08;1.52;2.14;1.52;1.52;1.52;0.61;1.52	4.63	3.7	0.42460	.	0.277517	0.34802	N	0.003664	T	0.37679	0.1012	L	0.38175	1.15	0.32632	N	0.521791	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.46034	-0.9220	10	0.54805	T	0.06	.	11.7344	0.51757	0.0906:0.0:0.9094:0.0	.	722;723;740	C9J0Q5;C9J239;C9JFD3	.;.;.	V	740;722;740;723;740;293;722;740;113	ENSP00000384018:A740V;ENSP00000384202:A722V;ENSP00000348551:A740V;ENSP00000380513:A723V;ENSP00000385618:A293V;ENSP00000400281:A722V;ENSP00000402808:A740V;ENSP00000408247:A113V	ENSP00000348551:A740V	A	-	2	0	NCOR2	123423109	0.995000	0.38212	0.223000	0.23860	0.488000	0.33401	2.368000	0.44222	0.869000	0.35703	0.561000	0.74099	GCC		0.647	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	Missense_Mutation
PIWIL1	9271	broad.mit.edu	37	12	130830969	130830969	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:130830969G>A	ENST00000245255.3	+	5	643	c.371G>A	c.(370-372)cGt>cAt	p.R124H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	124					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTGACATCCCGTCCCCAGTGG	0.393																																						uc001uik.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(370-372)cGt>cAt		Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.							83.0	82.0	82.0					12																	130830969		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130830969G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.371G>A	12.37:g.130830969G>A	ENSP00000245255:p.Arg124His					PIWIL1_uc001uij.2_Missense_Mutation_p.R124H	p.R124H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	4	642	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		124					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.371G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718755	0.68844	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539995;ENST00000542723	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.73	5.73	0.89815	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.53671	1.685	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.71870	0.512;0.975	T	0.00121	-1.2029	10	0.36615	T	0.2	-4.5455	18.8981	0.92432	0.0:0.0:1.0:0.0	.	124;124	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	124	ENSP00000245255:R124H;ENSP00000442086:R124H;ENSP00000439096:R124H;ENSP00000438582:R124H	ENSP00000245255:R124H	R	+	2	0	PIWIL1	129396922	1.000000	0.71417	0.995000	0.50966	0.557000	0.35523	9.833000	0.99426	2.691000	0.91804	0.650000	0.86243	CGT		0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
ENOX1	55068	broad.mit.edu	37	13	43788215	43788215	+	Missense_Mutation	SNP	G	G	A	rs146880051		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr13:43788215G>A	ENST00000261488.6	-	17	2420	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	ENOX1_ENST00000412891.1_Missense_Mutation_p.R615C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	615					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTGAACATGCGTGGCAGCCTC	0.433																																						uc001uza.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1843-1845)Cgc>Tgc		Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405		0,1,2202	107.0	101.0	103.0		1843,1843,1843	6.2	1.0	13	dbSNP_134	103	2,8598		0,2,4298	no	missense,missense,missense	ENOX1	NM_001127615.1,NM_001242863.1,NM_017993.3	180,180,180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign	615/644,615/644,615/644	43788215	3,13003	2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43788215G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1843C>T	13.37:g.43788215G>A	ENSP00000261488:p.Arg615Cys					ENOX1_uc001uzc.4_Missense_Mutation_p.R615C|ENOX1_uc001uzb.4_Missense_Mutation_p.R615C	p.R615C	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	16	2143	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	615					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.1843C>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.044834	0.36085	2.27E-4	2.33E-4	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.44482	0.92;0.92	6.16	6.16	0.99307	.	0.111045	0.64402	D	0.000011	T	0.25494	0.0620	N	0.02802	-0.49	0.80722	D	1	B	0.16166	0.016	B	0.08055	0.003	T	0.09818	-1.0657	10	0.37606	T	0.19	-12.7816	20.8598	0.99761	0.0:0.0:1.0:0.0	.	615	Q8TC92	ENOX1_HUMAN	C	615	ENSP00000261488:R615C;ENSP00000415054:R615C	ENSP00000261488:R615C	R	-	1	0	ENOX1	42686215	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.109000	0.64615	2.937000	0.99478	0.650000	0.86243	CGC		0.433	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	
HEATR5A	25938	broad.mit.edu	37	14	31790820	31790820	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:31790820C>T	ENST00000389961.3	-	24	3835	c.3836G>A	c.(3835-3837)aGt>aAt	p.S1279N	HEATR5A_ENST00000543095.2_Missense_Mutation_p.S1285N|HEATR5A_ENST00000439348.1_Missense_Mutation_p.S1279N|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S992N			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1279										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGCTGGTCACTGTGATCTGT	0.408																																						uc001wrf.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(3853-3855)aGt>aAt		Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.							26.0	29.0	28.0					14																	31790820		1901	4124	6025	SO:0001583	missense	25938						binding	g.chr14:31790820C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3836G>A	14.37:g.31790820C>T	ENSP00000374611:p.Ser1279Asn					HEATR5A_uc010ami.3_Missense_Mutation_p.S890N	p.S1285N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	24	4039	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1279					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3854G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.76|13.76	2.333200|2.333200	0.41297|0.41297	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095|ENST00000538864	T;T;T;T|.	0.64260|.	-0.09;0.68;-0.09;-0.09|.	5.34|5.34	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59514|0.59514	0.2199|0.2199	L|L	0.45422|0.45422	1.42|1.42	0.80722|0.80722	D|D	1|1	B|.	0.14012|.	0.009|.	B|.	0.15052|.	0.012|.	T|T	0.56481|0.56481	-0.7972|-0.7972	10|5	0.35671|.	T|.	0.21|.	.|.	14.2411|14.2411	0.65956|0.65956	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	1279|.	Q86XA9-2|.	.|.	N|M	1279;1279;992;1285|913	ENSP00000374611:S1279N;ENSP00000405407:S1279N;ENSP00000408681:S992N;ENSP00000437968:S1285N|.	ENSP00000374611:S1279N|.	S|V	-|-	2|1	0|0	HEATR5A|HEATR5A	30860571|30860571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	6.056000|6.056000	0.71111|0.71111	1.254000|1.254000	0.44035|0.44035	-0.680000|-0.680000	0.03767|0.03767	AGT|GTG		0.408	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
FOS	2353	broad.mit.edu	37	14	75745716	75745716	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:75745716G>C	ENST00000303562.4	+	1	240	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	FOS_ENST00000555242.1_Missense_Mutation_p.E11Q|FOS_ENST00000535987.1_Missense_Mutation_p.E11Q|FOS_ENST00000555347.1_5'Flank|FOS_ENST00000556324.2_3'UTR|FOS_ENST00000555686.1_5'Flank|FOS_ENST00000554617.1_Missense_Mutation_p.E11Q	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	11					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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 from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CGCAGACTACGAGGCGTCATC	0.662																																						uc001xrn.3																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(31-33)Gag>Cag		Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.							46.0	39.0	41.0					14																	75745716		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75745716G>C	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.31G>C	14.37:g.75745716G>C	ENSP00000306245:p.Glu11Gln					FOS_uc010tva.2_Missense_Mutation_p.E11Q|FOS_uc010asi.3_5'Flank	p.E11Q	NM_005252	NP_005243	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	0	236	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	11					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.31G>C	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	36	5.872907	0.97049	.	.	ENSG00000170345	ENST00000303562;ENST00000554617;ENST00000554212;ENST00000535987;ENST00000555242	T;T;T;T	0.65732	0.42;0.73;0.82;-0.17	5.16	5.16	0.70880	.	0.357708	0.31167	N	0.008139	T	0.65595	0.2706	L	0.34521	1.04	0.80722	D	1	D;P	0.53619	0.961;0.889	P;B	0.53224	0.721;0.394	T	0.68569	-0.5374	10	0.72032	D	0.01	-0.9646	18.8171	0.92081	0.0:0.0:1.0:0.0	.	11;11	B4DQ65;P01100	.;FOS_HUMAN	Q	11	ENSP00000306245:E11Q;ENSP00000450519:E11Q;ENSP00000442268:E11Q;ENSP00000452386:E11Q	ENSP00000306245:E11Q	E	+	1	0	FOS	74815469	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.660000	0.91121	2.843000	0.97960	0.655000	0.94253	GAG		0.662	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252	
KCNK13	56659	broad.mit.edu	37	14	90650893	90650893	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:90650893G>A	ENST00000282146.4	+	2	1214	c.773G>A	c.(772-774)cGc>cAc	p.R258H		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	258					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGCCTCTATCGCTTTGCCAAC	0.493																																						uc001xye.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(772-774)cGc>cAc		Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.							118.0	106.0	110.0					14																	90650893		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650893G>A	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.773G>A	14.37:g.90650893G>A	ENSP00000282146:p.Arg258His						p.R258H	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			1	1215	+		all_cancers(154;0.186)	258					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.773G>A	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370356	0.82573	.	.	ENSG00000152315	ENST00000282146	T	0.41065	1.01	5.42	4.53	0.55603	Ion transport 2 (1);	0.174849	0.27936	N	0.017248	T	0.72028	0.3410	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79492	-0.1781	10	0.59425	D	0.04	.	14.0044	0.64453	0.0734:0.0:0.9266:0.0	.	258	Q9HB14	KCNKD_HUMAN	H	258	ENSP00000282146:R258H	ENSP00000282146:R258H	R	+	2	0	KCNK13	89720646	1.000000	0.71417	0.992000	0.48379	0.772000	0.43724	6.772000	0.75001	1.270000	0.44297	0.655000	0.94253	CGC		0.493	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054	
NBEAP1	606	broad.mit.edu	37	15	20874887	20874887	+	RNA	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:20874887C>G	ENST00000556948.1	-	0	361							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		AATAACTGTTCCTATTCTGCA	0.333																																						uc010tze.1																			0											c.(250-252)gGa>gCa		Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																																						606							g.chr15:20874887C>G			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20874887C>G						NBEAP1_uc010tzd.2_Non-coding_Transcript	p.G84A							2	458	-									Missense_Mutation	SNP	ENST00000556948.1	37	c.251G>C																																																																																					0.333	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992	
RYR3	6263	broad.mit.edu	37	15	34014993	34014993	+	Missense_Mutation	SNP	C	C	T	rs200619009		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:34014993C>T	ENST00000389232.4	+	44	6767	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	RYR3_ENST00000415757.3_Missense_Mutation_p.R2233W|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2233	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCGGCCCTGCGGGGTGAGGG	0.587																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6697-6699)Cgg>Tgg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							82.0	91.0	88.0					15																	34014993		1977	4158	6135	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34014993C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6697C>T	15.37:g.34014993C>T	ENSP00000373884:p.Arg2233Trp					RYR3_uc010bar.3_Missense_Mutation_p.R2233W	p.R2233W	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	43	6767	+		all_lung(180;7.18e-09)	2233			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6697C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586037	0.66105	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97688	-4.49;-4.49	4.93	2.82	0.32997	.	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.84082	2.675	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.98748	1.0719	10	0.87932	D	0	.	11.3033	0.49320	0.5983:0.4017:0.0:0.0	.	2233;2233	Q15413-2;Q15413	.;RYR3_HUMAN	W	2233	ENSP00000373884:R2233W;ENSP00000399610:R2233W	ENSP00000354735:R2233W	R	+	1	2	RYR3	31802285	0.811000	0.29063	1.000000	0.80357	0.725000	0.41563	0.671000	0.25172	1.230000	0.43646	0.555000	0.69702	CGG		0.587	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
CILP	8483	broad.mit.edu	37	15	65495753	65495753	+	Silent	SNP	G	G	A	rs193195655		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:65495753G>A	ENST00000261883.4	-	7	1141	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	325	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACAGAGACACGCTCTGCCCAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.001	False		,,,				2504	0.0					uc002aon.2																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(973-975)agC>agT		Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.							124.0	109.0	114.0					15																	65495753		2201	4299	6500	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65495753G>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.975C>T	15.37:g.65495753G>A							p.S325S	NM_003613	NP_003604	O75339	CILP1_HUMAN			6	1156	-			325			Ig-like C2-type.		B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.975C>T	CCDS10203.1																																																																																				0.498	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
SCAMP2	10066	broad.mit.edu	37	15	75137888	75137888	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:75137888T>G	ENST00000268099.9	-	8	890	c.781A>C	c.(781-783)Ata>Cta	p.I261L	ULK3_ENST00000569437.1_5'Flank|ULK3_ENST00000440863.2_5'Flank|ULK3_ENST00000568667.1_5'Flank	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	261					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ATGACTGATATGGCCAGGGAA	0.557																																						uc002azb.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(781-783)Ata>Cta		Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.							187.0	163.0	172.0					15																	75137888		2197	4295	6492	SO:0001583	missense	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75137888T>G	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.781A>C	15.37:g.75137888T>G	ENSP00000268099:p.Ile261Leu					ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.I111L	p.I261L	NM_005697	NP_005688	O15127	SCAM2_HUMAN			7	855	-			261					B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.781A>C	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457903	0.63401	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.16897	2.31	4.91	1.92	0.25849	.	0.200539	0.42420	N	0.000707	T	0.07908	0.0198	N	0.08118	0	0.28975	N	0.888981	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.16129	-1.0413	10	0.51188	T	0.08	.	7.6838	0.28528	0.0:0.7138:0.1332:0.1531	.	261;230	O15127;B3KU14	SCAM2_HUMAN;.	L	261;230	ENSP00000268099:I261L	ENSP00000268099:I261L	I	-	1	0	SCAMP2	72924941	0.999000	0.42202	0.632000	0.29296	0.451000	0.32288	4.032000	0.57274	0.488000	0.27723	-0.208000	0.12717	ATA		0.557	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697	
RP11-24M17.5	0	broad.mit.edu	37	15	76075166	76075166	+	RNA	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:76075166C>T	ENST00000395215.3	+	0	806				RN7SL319P_ENST00000480656.2_RNA																							CTCAGCTGAGCCCCCATCCCC	0.572																																						uc010umm.1																			0											c.(727-729)agC>agT		SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																																						0							g.chr15:76075166C>T																													15.37:g.76075166C>T						DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank|DQ582208_uc021sqs.1_5'Flank	p.S243S							9	806	+									Silent	SNP	ENST00000395215.3	37	c.729C>T																																																																																					0.572	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1		
ADCY9	115	broad.mit.edu	37	16	4033331	4033331	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:4033331C>T	ENST00000294016.3	-	7	2959	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	807					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCGTACTTCAGGAAGCAGG	0.637											OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2419-2421)ctG>ctA		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							48.0	37.0	41.0					16																	4033331		2193	4296	6489	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4033331C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2421G>A	16.37:g.4033331C>T			OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	615		p.L807L	NM_001116	NP_001107	O60503	ADCY9_HUMAN			6	2960	-			807					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.2421G>A	CCDS32382.1																																																																																				0.637	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
Unknown	0	broad.mit.edu	37	16	33784672	33784672	+	IGR	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:33784672G>A								RP11-812E19.3 (6928 upstream) : AC136932.2 (161276 downstream)																							CATCTTCAACGTTGTGTACTA	0.637																																						uc010vgb.2																			0											c.(61-63)Gtt>Att		SubName: Full=Uncharacterized protein;																																				SO:0001628	intergenic_variant	0							g.chr16:33784672G>A																													16.37:g.33784672G>A							p.V21I							1	81	+									Missense_Mutation	SNP		37	c.61G>A		.	.	.	.	.	.	.	.	.	.	.	0.621	-0.821186	0.02755	.	.	ENSG00000198555	ENST00000359871	.	.	.	2.12	-1.86	0.07760	.	0.381500	0.19981	N	0.101761	T	0.16342	0.0393	.	.	.	.	.	.	P	0.35411	0.5	B	0.30401	0.115	T	0.15549	-1.0433	6	.	.	.	.	3.8486	0.08945	0.2842:0.3937:0.3221:0.0	.	73	F8WED4	.	I	73	.	.	V	+	1	0	AC133561.1	33692173	0.015000	0.18098	0.022000	0.16811	0.162000	0.22319	0.226000	0.17776	-0.378000	0.07918	0.194000	0.17425	GTT	0	0.637								
RBL2	5934	broad.mit.edu	37	16	53500990	53500990	+	Silent	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:53500990G>T	ENST00000262133.6	+	14	2021	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.L412L	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	628	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCAGAACCTGGAAAGGGCAG	0.423																																						uc002ehi.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1882-1884)ctG>ctT		Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.							157.0	159.0	159.0					16																	53500990		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53500990G>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1884G>T	16.37:g.53500990G>T						RBL2_uc010vgv.1_Silent_p.L554L|RBL2_uc002ehj.3_Silent_p.L338L|RBL2_uc010vgw.2_Silent_p.L412L	p.L628L	NM_005611	NP_005602	Q08999	RBL2_HUMAN			13	2002	+			628			Pocket; binds E1A.|Spacer.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.1884G>T	CCDS10748.1																																																																																				0.423	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
NOB1	28987	broad.mit.edu	37	16	69782153	69782153	+	Missense_Mutation	SNP	C	C	A	rs199699618		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:69782153C>A	ENST00000268802.5	-	7	835	c.806G>T	c.(805-807)cGc>cTc	p.R269L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	269					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCATGGCAGCGCAAGATGTA	0.522																																						uc002exs.3																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(805-807)cGc>cTc		Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.							66.0	59.0	61.0					16																	69782153		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69782153C>A	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.806G>T	16.37:g.69782153C>A	ENSP00000268802:p.Arg269Leu						p.R269L	NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN			6	822	-			269					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.806G>T	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293390	0.95546	.	.	ENSG00000141101	ENST00000268802	T	0.42900	0.96	5.23	5.23	0.72850	Nin one binding (NOB1) Zn-ribbon-like (1);	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.84219	2.685	0.80722	D	1	D	0.54964	0.969	P	0.57204	0.815	T	0.67643	-0.5618	9	.	.	.	.	18.7673	0.91878	0.0:1.0:0.0:0.0	.	269	Q9ULX3	NOB1_HUMAN	L	269	ENSP00000268802:R269L	.	R	-	2	0	NOB1	68339654	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.335000	0.79234	2.589000	0.87451	0.555000	0.69702	CGC		0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062	
CLDN7	1366	broad.mit.edu	37	17	7163801	7163801	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:7163801G>A	ENST00000360325.7	-	4	962	c.528C>T	c.(526-528)atC>atT	p.I176I	CLDN7_ENST00000538261.3_3'UTR|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000397317.4_Silent_p.I176I|RP1-4G17.5_ENST00000577138.1_Intron	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	176					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						CACCTCCCAGGATGACTAGGG	0.572																																						uc002gfm.4																			0				kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						c.(526-528)atC>atT		Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.							41.0	36.0	38.0					17																	7163801		2203	4300	6503	SO:0001819	synonymous_variant	1366				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr17:7163801G>A	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.528C>T	17.37:g.7163801G>A						CLDN7_uc010cmc.3_3'UTR|CLDN7_uc002gfn.4_Silent_p.I176I	p.I176I	NM_001307	NP_001298	O95471	CLD7_HUMAN			3	1430	-			176					B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Silent	SNP	ENST00000360325.7	37	c.528C>T	CCDS11096.1																																																																																				0.572	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307	
CDRT15	146822	broad.mit.edu	37	17	14139674	14139674	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:14139674G>A	ENST00000420162.2	-	2	351	c.336C>T	c.(334-336)gcC>gcT	p.A112A	CDRT15_ENST00000431716.2_Silent_p.A46A	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	112										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCTCTGGAGGGGCCTCTTCCC	0.607																																						uc010vvu.2																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6						c.(334-336)gcC>gcT		Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.																																				SO:0001819	synonymous_variant	146822							g.chr17:14139674G>A	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.336C>T	17.37:g.14139674G>A							p.A112A	NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	1	336	-			112					B2RUU5	Silent	SNP	ENST00000420162.2	37	c.336C>T	CCDS32569.1																																																																																				0.607	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252853.1	NM_001007530	
NF1	4763	broad.mit.edu	37	17	29508438	29508438	+	Splice_Site	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:29508438A>G	ENST00000358273.4	+	6	969		c.e6-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						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.?(4)	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)		TGTTTTTTCCAGAAACAGCAT	0.299			"""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(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(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						c.e6-2		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							39.0	42.0	41.0					17																	29508438		2194	4289	6483	SO:0001630	splice_region_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.chr17:29508438A>G		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.587-1A>G	17.37:g.29508438A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice	p.E196_splice	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)	6	970	+		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)	196					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.587_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442294	0.63067	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4068	0.74884	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26532564	1.000000	0.71417	0.980000	0.43619	0.668000	0.39293	8.207000	0.89746	2.036000	0.60181	0.482000	0.46254	.		0.299	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron
TADA2A	6871	broad.mit.edu	37	17	35834667	35834667	+	Missense_Mutation	SNP	G	G	A	rs369901141		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:35834667G>A	ENST00000394395.2	+	15	1252	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	TADA2A_ENST00000225396.6_Missense_Mutation_p.R360Q	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	360	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATAGGTAGACGGAGTGCACCA	0.453																																						uc002hnv.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1078-1080)cGg>cAg		Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	55.0		1079,1079	5.8	1.0	17		55	0,8600		0,0,4300	no	missense,missense	TADA2A	NM_001488.3,NM_001166105.1	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	360/444,360/444	35834667	1,13005	2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35834667G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1079G>A	17.37:g.35834667G>A	ENSP00000377918:p.Arg360Gln					TADA2A_uc002hnt.3_Missense_Mutation_p.R360Q|TADA2A_uc002hnw.3_Missense_Mutation_p.R259Q	p.R360Q	NM_001488	NP_001479	O75478	TAD2A_HUMAN			14	1448	+			360			SWIRM.		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.1079G>A	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719897	0.89205	2.27E-4	0.0	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.44083	0.93;0.93	5.76	5.76	0.90799	Homeodomain-like (1);SWIRM (1);	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	N	0.24115	0.695	0.80722	D	1	B	0.30709	0.291	B	0.21151	0.033	T	0.04509	-1.0946	10	0.30854	T	0.27	-7.9594	19.9857	0.97347	0.0:0.0:1.0:0.0	.	360	O75478	TAD2A_HUMAN	Q	360;259;360	ENSP00000377918:R360Q;ENSP00000225396:R360Q	ENSP00000225396:R360Q	R	+	2	0	TADA2A	32908780	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.507000	0.97996	2.706000	0.92434	0.655000	0.94253	CGG		0.453	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488	
KRT12	3859	broad.mit.edu	37	17	39021192	39021192	+	Missense_Mutation	SNP	G	G	A	rs368116028		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:39021192G>A	ENST00000251643.4	-	3	696	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	225	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R225C(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	ACGCCCTGGCGCAGGGCCAGT	0.552																																						uc002hvk.2																			2	Substitution - Missense(2)	p.R225C(4)	upper_aerodigestive_tract(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(673-675)Cgc>Tgc		Homo sapiens keratin 12 (KRT12), mRNA.		G	CYS/ARG	0,4406		0,0,2203	68.0	68.0	68.0		673	2.4	0.2	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT12	NM_000223.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	225/495	39021192	1,13005	2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39021192G>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.673C>T	17.37:g.39021192G>A	ENSP00000251643:p.Arg225Cys						p.R225C	NM_000223	NP_000214	Q99456	K1C12_HUMAN			2	697	-		Breast(137;0.000301)	225			Coil 1B.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.673C>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841312	0.51057	0.0	1.16E-4	ENSG00000187242	ENST00000251643	D	0.91792	-2.91	5.96	2.42	0.29668	Filament (1);	0.548852	0.16745	N	0.201287	D	0.90442	0.7007	M	0.86864	2.845	0.51482	D	0.999921	B	0.27951	0.195	B	0.22386	0.039	D	0.87389	0.2362	10	0.72032	D	0.01	.	4.3176	0.11000	0.1513:0.1201:0.6051:0.1235	.	225	Q99456	K1C12_HUMAN	C	225	ENSP00000251643:R225C	ENSP00000251643:R225C	R	-	1	0	KRT12	36274718	0.279000	0.24239	0.228000	0.23943	0.263000	0.26337	2.768000	0.47645	0.702000	0.31825	0.655000	0.94253	CGC		0.552	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223	
TANC2	26115	broad.mit.edu	37	17	61466072	61466072	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:61466072C>G	ENST00000424789.2	+	14	2550	c.2546C>G	c.(2545-2547)tCc>tGc	p.S849C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S849C|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	849					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAAGGTCTTTCCATGGCACTG	0.323																																						uc002jal.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(2545-2547)tCc>tGc		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.							85.0	74.0	77.0					17																	61466072		1845	4090	5935	SO:0001583	missense	26115						binding	g.chr17:61466072C>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2546C>G	17.37:g.61466072C>G	ENSP00000387593:p.Ser849Cys					TANC2_uc010wpe.2_Missense_Mutation_p.S759C|TANC2_uc002jan.1_5'UTR|TANC2_uc002jao.4_5'Flank|TANC2_uc002jam.1_Missense_Mutation_p.S216C	p.S849C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			13	2569	+			849					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.2546C>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816600	0.90790	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70516	-0.49;-0.49	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.977;0.99	D	0.85321	0.1084	10	0.66056	D	0.02	.	19.9434	0.97174	0.0:1.0:0.0:0.0	.	849;759;849	Q9HCD6-2;D3DU10;Q9HCD6	.;.;TANC2_HUMAN	C	849	ENSP00000374171:S849C;ENSP00000387593:S849C	ENSP00000374171:S849C	S	+	2	0	TANC2	58819804	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.776000	0.85560	2.710000	0.92621	0.563000	0.77884	TCC		0.323	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
SERPINB10	5273	broad.mit.edu	37	18	61585321	61585321	+	Silent	SNP	G	G	A	rs201911253	byFrequency	TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr18:61585321G>A	ENST00000238508.3	+	4	416	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	119					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T119T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GAGAGAAAACGTATGCATTTC	0.348													g|||	2	0.000399361	0.0	0.0	5008	,	,		21320	0.0		0.002	False		,,,				2504	0.0					uc010xev.2																			1	Substitution - coding silent(1)	p.T119T(1)	kidney(1)	NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(355-357)acG>acA		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						102.0	93.0	96.0					18																	61585321		2202	4300	6502	SO:0001819	synonymous_variant	5273				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61585321G>A	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.357G>A	18.37:g.61585321G>A						SERPINB2_uc010xew.2_Silent_p.T119T	p.T119T	NM_005024	NP_005015	P05120	PAI2_HUMAN			3	447	+		Esophageal squamous(42;0.131)	134					Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	c.357G>A	CCDS11990.1																																																																																				0.348	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
GZMM	3004	broad.mit.edu	37	19	547333	547333	+	Missense_Mutation	SNP	C	C	T	rs148691419	byFrequency	TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:547333C>T	ENST00000264553.3	+	2	147	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	37	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCACTCGCGCCCGTACAT	0.662													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12758	0.0		0.0	False		,,,				2504	0.0					uc002low.1																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(109-111)Cgc>Tgc		Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.		C	CYS/ARG	5,4401	8.1+/-20.4	0,5,2198	60.0	61.0	61.0		109	2.6	0.0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GZMM	NM_005317.2	180	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	probably-damaging	37/258	547333	6,13000	2203	4300	6503	SO:0001583	missense	3004				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:547333C>T		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"""lymphocyte met-ase 1"""	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.109C>T	19.37:g.547333C>T	ENSP00000264553:p.Arg37Cys						p.R37C	NM_005317	NP_005308	P51124	GRAM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	154	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	37			Peptidase S1.			Missense_Mutation	SNP	ENST00000264553.3	37	c.109C>T	CCDS12031.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.69	2.908693	0.52439	0.001135	1.16E-4	ENSG00000197540	ENST00000264553	D	0.92965	-3.14	3.64	2.59	0.31030	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.264689	0.20005	U	0.101253	D	0.93880	0.8042	M	0.64997	1.995	0.19945	N	0.999941	D	0.89917	1.0	D	0.97110	1.0	D	0.85907	0.1438	10	0.72032	D	0.01	.	7.2935	0.26380	0.0:0.875:0.0:0.125	.	37	P51124	GRAM_HUMAN	C	37	ENSP00000264553:R37C	ENSP00000264553:R37C	R	+	1	0	GZMM	498333	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	0.276000	0.18716	0.874000	0.35823	0.555000	0.69702	CGC		0.662	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317	
FSD1	79187	broad.mit.edu	37	19	4323057	4323057	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:4323057G>A	ENST00000221856.6	+	11	1261	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	FSD1_ENST00000597590.1_Missense_Mutation_p.G372S|STAP2_ENST00000597593.1_5'Flank	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	372	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCGGCGTGGGCGTGGCCTA	0.687																																						uc002lzy.2																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1114-1116)Ggc>Agc		Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.							31.0	30.0	30.0					19																	4323057		2203	4297	6500	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4323057G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1114G>A	19.37:g.4323057G>A	ENSP00000221856:p.Gly372Ser					FSD1_uc002maa.2_Missense_Mutation_p.G185S	p.G372S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1267	+			372			B30.2/SPRY.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.1114G>A	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451148	0.96205	.	.	ENSG00000105255	ENST00000221856	D	0.99194	-5.54	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	L	0.50333	1.59	0.58432	D	0.999998	D	0.61080	0.989	D	0.69142	0.962	D	0.99821	1.1047	10	0.87932	D	0	.	14.8304	0.70142	0.0:0.0:1.0:0.0	.	372	Q9BTV5	FSD1_HUMAN	S	372	ENSP00000221856:G372S	ENSP00000221856:G372S	G	+	1	0	FSD1	4274057	1.000000	0.71417	0.978000	0.43139	0.873000	0.50193	9.670000	0.98625	2.097000	0.63578	0.485000	0.47835	GGC		0.687	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333	
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					uc010dyt.3																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1765-1767)gAa>gGa		Homo sapiens zinc finger protein 799 (ZNF799), mRNA.							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					ZNF799_uc002mts.4_Intron	p.E589G	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN			3	1970	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1766A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821	
KPTN	11133	broad.mit.edu	37	19	47979804	47979804	+	Silent	SNP	G	G	A	rs562237338		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:47979804G>A	ENST00000338134.3	-	11	1274	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	KPTN_ENST00000536339.1_Silent_p.G149G	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	389					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GGATGTGCACGCCCTTCAGGG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14283	0.0		0.0	False		,,,				2504	0.0					uc002pgy.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(1165-1167)ggC>ggT		Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.							24.0	26.0	26.0					19																	47979804		2048	4190	6238	SO:0001819	synonymous_variant	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47979804G>A	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.1167C>T	19.37:g.47979804G>A						KPTN_uc010xys.2_Non-coding_Transcript	p.G389G	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	10	1271	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	389					B3KN86|B4DQ76|Q96GT1	Silent	SNP	ENST00000338134.3	37	c.1167C>T	CCDS42583.1																																																																																				0.667	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2		
TNNT1	7138	broad.mit.edu	37	19	55645562	55645562	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:55645562C>G	ENST00000588981.1	-	12	826	c.622G>C	c.(622-624)Gcc>Ccc	p.A208P	TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000585321.2_Intron|TNNT1_ENST00000587465.2_Intron|TNNT1_ENST00000587758.1_Intron|TNNT1_ENST00000291901.8_Intron|TNNT1_ENST00000356783.5_Intron|TNNT1_ENST00000536926.1_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	208					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)	p.A208P(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGCAGCCAGGCAGACCGGGCC	0.622																																						uc002qjb.4																			1	Substitution - Missense(1)	p.A208P(2)|p.S207C(1)|p.S207S(1)	kidney(1)	endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(622-624)Gcc>Ccc		Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.							18.0	18.0	18.0					19																	55645562		2196	4292	6488	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55645562C>G		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.622G>C	19.37:g.55645562C>G	ENSP00000467176:p.Ala208Pro					TNNT1_uc002qjc.4_Intron|TNNT1_uc002qje.4_Intron|TNNT1_uc002qjd.4_Intron	p.A208P	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	11	711	-			208					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.622G>C	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	c	9.212	1.031190	0.19590	.	.	ENSG00000105048	ENST00000291901	.	.	.	2.71	0.318	0.15867	.	.	.	.	.	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23404	-1.0189	8	0.28530	T	0.3	.	4.8648	0.13602	0.2474:0.5112:0.2414:0.0	.	208	P13805	TNNT1_HUMAN	P	208	.	ENSP00000291901:A208P	A	-	1	0	TNNT1	60337374	0.000000	0.05858	0.004000	0.12327	0.026000	0.11368	-0.376000	0.07465	0.164000	0.19529	0.443000	0.29094	GCC		0.622	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283	
LHCGR	3973	broad.mit.edu	37	2	48915481	48915481	+	Silent	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:48915481C>A	ENST00000294954.7	-	11	1476	c.1455G>T	c.(1453-1455)ctG>ctT	p.L485L	LHCGR_ENST00000405626.1_Silent_p.L458L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.L423L|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	485					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CAAGCATAATCAGAATGGCAT	0.453																																						uc002rwu.4																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1453-1455)ctG>ctT		Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						133.0	114.0	120.0					2																	48915481		2203	4300	6503	SO:0001819	synonymous_variant	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915481C>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1455G>T	2.37:g.48915481C>A						STON1-GTF2A1L_uc021vhf.1_Intron	p.L485L	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1525	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	485					Q14751|Q15996|Q9UEW9	Silent	SNP	ENST00000294954.7	37	c.1455G>T	CCDS1842.1																																																																																				0.453	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3	
CKAP2L	150468	broad.mit.edu	37	2	113514209	113514209	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:113514209C>T	ENST00000302450.6	-	4	817	c.739G>A	c.(739-741)Gga>Aga	p.G247R	CKAP2L_ENST00000541405.1_Missense_Mutation_p.G82R|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	247						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGTGTTTCTCCAACAAATTGT	0.403																																						uc002tie.2																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(739-741)Gga>Aga		Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.							117.0	118.0	118.0					2																	113514209		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514209C>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.739G>A	2.37:g.113514209C>T	ENSP00000305204:p.Gly247Arg					CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.G82R|CKAP2L_uc010yxq.1_Missense_Mutation_p.G82R	p.G247R	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			3	818	-			247					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.739G>A	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	0.634	-0.815931	0.02776	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.11385	2.78;3.44	4.78	-4.96	0.03038	.	1.018660	0.07827	N	0.960819	T	0.04407	0.0121	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46843	-0.9162	10	0.06891	T	0.86	-4.6447	8.3241	0.32147	0.0:0.2346:0.1253:0.6401	.	247	Q8IYA6	CKP2L_HUMAN	R	82;247	ENSP00000438763:G82R;ENSP00000305204:G247R	ENSP00000305204:G247R	G	-	1	0	CKAP2L	113230680	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.464000	0.06688	-1.061000	0.03185	-1.978000	0.00458	GGA		0.403	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																						uc002tkh.3																			0											c.(616-618)Cac>Gac		Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																																						375260							g.chr2:114355998C>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G						WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript	p.H206D							4	674	+									Missense_Mutation	SNP	ENST00000538033.2	37	c.616C>G																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
TRAK2	66008	broad.mit.edu	37	2	202250994	202250994	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:202250994G>T	ENST00000332624.3	-	14	2338	c.1910C>A	c.(1909-1911)cCa>cAa	p.P637Q		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	637					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.P637Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CCCTGTTACTGGCTTGGATGT	0.418																																						uc002uyb.4																			1	Substitution - Missense(1)	p.P637Q(2)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1909-1911)cCa>cAa		Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.							101.0	93.0	96.0					2																	202250994		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202250994G>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1910C>A	2.37:g.202250994G>T	ENSP00000328875:p.Pro637Gln						p.P637Q	NM_015049	NP_055864	O60296	TRAK2_HUMAN			13	2356	-			637	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1910C>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548385	0.27652	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.07216	3.21	4.53	4.53	0.55603	.	0.297182	0.22547	U	0.058654	T	0.12689	0.0308	L	0.54323	1.7	0.80722	D	1	B	0.34103	0.437	B	0.35470	0.203	T	0.05099	-1.0906	10	0.72032	D	0.01	.	17.4619	0.87622	0.0:0.0:1.0:0.0	.	637	O60296	TRAK2_HUMAN	Q	637;543	ENSP00000328875:P637Q	ENSP00000328875:P637Q	P	-	2	0	TRAK2	201959239	1.000000	0.71417	0.911000	0.35937	0.173000	0.22820	3.497000	0.53295	2.362000	0.80069	0.655000	0.94253	CCA		0.418	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	
KRTAP19-5	337972	broad.mit.edu	37	21	31874370	31874370	+	Silent	SNP	G	G	A	rs367860556		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr21:31874370G>A	ENST00000334151.2	-	1	65	c.39C>T	c.(37-39)taC>taT	p.Y13Y		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	13						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CTCCGTAGCCGTAGCCCAGGC	0.572																																						uc011ada.2																			0				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						c.(37-39)taC>taT		Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	141.0	117.0	125.0		39	-7.8	0.0	21		125	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	KRTAP19-5	NM_181611.1		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		13/73	31874370	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	337972					intermediate filament	protein binding	g.chr21:31874370G>A	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.39C>T	21.37:g.31874370G>A							p.Y13Y	NM_181611	NP_853642	Q3LI72	KR195_HUMAN			0	39	-			13					A4IF22	Silent	SNP	ENST00000334151.2	37	c.39C>T	CCDS13597.1																																																																																				0.572	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2		
KRTAP6-1	337966	broad.mit.edu	37	21	31986219	31986219	+	Missense_Mutation	SNP	C	C	T	rs146113466		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr21:31986219C>T	ENST00000329122.2	-	1	30	c.5G>A	c.(4-6)tGt>tAt	p.C2Y	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	2						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						GTAGCTGCCACACATGGTGTT	0.547																																						uc002yop.3																			0				breast(2)|endometrium(1)|lung(7)	10						c.(4-6)tGt>tAt		Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.		C	TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	186.0	180.0	182.0		5	4.7	1.0	21	dbSNP_134	182	0,8600		0,0,4300	no	missense	KRTAP6-1	NM_181602.1	194	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2/72	31986219	1,13005	2203	4300	6503	SO:0001583	missense	337966					cytosol|intermediate filament		g.chr21:31986219C>T	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.5G>A	21.37:g.31986219C>T	ENSP00000332690:p.Cys2Tyr					KRTAP20-1_uc011ade.2_5'Flank	p.C2Y	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			0	5	-			2						Missense_Mutation	SNP	ENST00000329122.2	37	c.5G>A	CCDS13602.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324842	0.24080	2.27E-4	0.0	ENSG00000184724	ENST00000329122	T	0.27557	1.66	4.7	4.7	0.59300	.	0.470812	0.16059	U	0.231572	T	0.27063	0.0663	.	.	.	0.27908	N	0.938738	B	0.27229	0.172	B	0.33392	0.163	T	0.14587	-1.0467	9	0.87932	D	0	.	9.0613	0.36436	0.0:0.9041:0.0:0.0959	.	2	Q3LI64	KRA61_HUMAN	Y	2	ENSP00000332690:C2Y	ENSP00000332690:C2Y	C	-	2	0	KRTAP6-1	30908090	0.997000	0.39634	1.000000	0.80357	0.876000	0.50452	0.556000	0.23438	2.897000	0.99335	0.643000	0.83706	TGT		0.547	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602	
SBF1	6305	broad.mit.edu	37	22	50886843	50886843	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr22:50886843C>T	ENST00000390679.3	-	37	5288	c.5104G>A	c.(5104-5106)Gca>Aca	p.A1702T	SBF1_ENST00000348911.6_Missense_Mutation_p.A1703T|SBF1_ENST00000380817.3_Missense_Mutation_p.A1728T			O95248	MTMR5_HUMAN	SET binding factor 1	1702					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGGTGGGGTGCGGTGGACACA	0.657																																						uc003blh.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(5182-5184)Gca>Aca		Homo sapiens SET binding factor 1 (SBF1), mRNA.							30.0	37.0	35.0					22																	50886843		2068	4182	6250	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50886843C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.5104G>A	22.37:g.50886843C>T	ENSP00000375097:p.Ala1702Thr					SBF1_uc003ble.3_Missense_Mutation_p.A192T|SBF1_uc011arx.2_Missense_Mutation_p.A1366T	p.A1728T	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	37	5377	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1702					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.5182G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.230|6.230	0.410564|0.410564	0.11812|0.11812	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679|ENST00000418590	D;D;D|.	0.86297|.	-2.09;-2.1;-2.1|.	3.93|3.93	2.85|2.85	0.33270|0.33270	.|.	0.349552|.	0.25968|.	N|.	0.027143|.	T|T	0.18593|0.18593	0.0446|0.0446	N|N	0.08118|0.08118	0|0	0.23132|0.23132	N|N	0.998243|0.998243	B;B;B|.	0.23650|.	0.089;0.052;0.016|.	B;B;B|.	0.18871|.	0.018;0.023;0.009|.	T|T	0.22487|0.22487	-1.0215|-1.0215	10|5	0.08837|.	T|.	0.75|.	.|.	8.6465|8.6465	0.34009|0.34009	0.1499:0.631:0.2192:0.0|0.1499:0.631:0.2192:0.0	.|.	1702;1728;249|.	O95248;O95248-4;A6PVG7|.	MTMR5_HUMAN;.;.|.	T|H	1728;1703;1738;1702|249	ENSP00000370196:A1728T;ENSP00000252027:A1703T;ENSP00000375097:A1702T|.	ENSP00000336522:A1738T|.	A|R	-|-	1|2	0|0	SBF1|SBF1	49233709|49233709	0.992000|0.992000	0.36948|0.36948	0.822000|0.822000	0.32727|0.32727	0.265000|0.265000	0.26407|0.26407	2.766000|2.766000	0.47629|0.47629	0.940000|0.940000	0.37473|0.37473	0.491000|0.491000	0.48974|0.48974	GCA|CGC		0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding			
CNTN6	27255	broad.mit.edu	37	3	1339583	1339583	+	Silent	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:1339583G>T	ENST00000446702.2	+	7	1296	c.669G>T	c.(667-669)ggG>ggT	p.G223G	CNTN6_ENST00000539053.1_Silent_p.G151G|CNTN6_ENST00000350110.2_Silent_p.G223G			Q9UQ52	CNTN6_HUMAN	contactin 6	223					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTGTGATGGGGGAATATGAAC	0.358																																						uc003boz.3																			0		p.G223W(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(667-669)ggG>ggT		Homo sapiens contactin 6 (CNTN6), mRNA.							123.0	129.0	127.0					3																	1339583		2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1339583G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.669G>T	3.37:g.1339583G>T						CNTN6_uc010hbo.2_Silent_p.G218G|CNTN6_uc011asj.2_Silent_p.G151G|CNTN6_uc003bpa.3_Silent_p.G223G	p.G223G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	6	936	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	223					Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.669G>T	CCDS2557.1																																																																																				0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
ITPR1	3708	broad.mit.edu	37	3	4856788	4856788	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:4856788G>A	ENST00000443694.2	+	56	7708	c.7708G>A	c.(7708-7710)Gtc>Atc	p.V2570I	AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.V2570I|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2537I|ITPR1_ENST00000456211.2_Missense_Mutation_p.V2522I|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.V548I|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2537I|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2570I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2585					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTTCTTCATGGTCATCATCAT	0.448																																						uc003bqc.3																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7708-7710)Gtc>Atc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.							217.0	212.0	214.0					3																	4856788		2041	4227	6268	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4856788G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7708G>A	3.37:g.4856788G>A	ENSP00000401671:p.Val2570Ile					ITPR1_uc021wsi.1_Missense_Mutation_p.V2537I|ITPR1_uc021wsj.1_Missense_Mutation_p.V2522I|ITPR1_uc011asu.2_Missense_Mutation_p.V548I|ITPR1_uc010hcc.2_Missense_Mutation_p.V305I|ITPR1_uc011asv.2_Missense_Mutation_p.V261I	p.V2570I	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	57	8058	+			2585					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7708G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253418	0.80135	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	4.83	4.83	0.62350	Ion transport (1);	0.073347	0.56097	D	0.000036	D	0.98343	0.9450	L	0.56340	1.77	0.58432	D	0.999998	P;P;P	0.51351	0.944;0.855;0.854	D;P;P	0.66716	0.946;0.507;0.832	D	0.98274	1.0505	10	0.25106	T	0.35	.	17.9405	0.89025	0.0:0.0:1.0:0.0	.	548;2585;2537	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	I	2585;2570;2570;2537;1031;2537;2522;548;2570	ENSP00000306253:V2570I;ENSP00000346595:V2570I;ENSP00000405934:V2537I;ENSP00000349597:V2537I;ENSP00000397885:V2522I;ENSP00000440564:V548I;ENSP00000401671:V2570I	ENSP00000306253:V2570I	V	+	1	0	ITPR1	4831788	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.787000	0.99055	2.218000	0.71995	0.467000	0.42956	GTC		0.448	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ATP2B2	491	broad.mit.edu	37	3	10452358	10452358	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:10452358G>A	ENST00000352432.4	-	2	410	c.341C>T	c.(340-342)gCc>gTc	p.A114V	ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A114V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	114					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGGCGGCAATCTCCAG	0.592																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(340-342)gCc>gTc		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.							177.0	185.0	182.0					3																	10452358		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452358G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.341C>T	3.37:g.10452358G>A	ENSP00000324172:p.Ala114Val					ATP2B2_uc003bvv.3_Missense_Mutation_p.A114V|ATP2B2_uc003bvw.3_Missense_Mutation_p.A114V|ATP2B2_uc010hdp.2_Missense_Mutation_p.A114V|ATP2B2_uc010hdo.3_5'UTR	p.A114V	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			2	780	-			114					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.341C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774816	0.96922	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.94931	-1.87;-1.87;-1.87;-1.87;-1.87;-3.56	5.66	5.66	0.87406	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.999;0.986;0.997	D;P;D	0.81914	0.995;0.897;0.947	D	0.98630	1.0671	10	0.87932	D	0	-37.8211	19.7543	0.96284	0.0:0.0:1.0:0.0	.	114;126;114	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	114;114;114;114;114;80;1;114	ENSP00000324172:A114V;ENSP00000373311:A114V;ENSP00000380267:A114V;ENSP00000353414:A114V;ENSP00000344677:A114V;ENSP00000414854:A1V	ENSP00000342954:A114V	A	-	2	0	ATP2B2	10427358	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.869000	0.99810	2.680000	0.91292	0.561000	0.74099	GCC		0.592	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
C3orf20	84077	broad.mit.edu	37	3	14799018	14799018	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:14799018A>C	ENST00000253697.3	+	13	2533	c.2081A>C	c.(2080-2082)gAc>gCc	p.D694A	C3orf20_ENST00000435614.1_Missense_Mutation_p.D572A|C3orf20_ENST00000412910.1_Missense_Mutation_p.D572A	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	694						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGGTCTCTGACGTGGAGCTG	0.632																																						uc003byy.3																			0		p.D694D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(2080-2082)gAc>gCc		Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.							64.0	61.0	62.0					3																	14799018		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14799018A>C	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2081A>C	3.37:g.14799018A>C	ENSP00000253697:p.Asp694Ala					C3orf20_uc003byz.3_Missense_Mutation_p.D572A|C3orf20_uc003bza.3_Missense_Mutation_p.D572A|C3orf20_uc003bzb.1_Missense_Mutation_p.D195A|C3orf20_uc011avj.2_Missense_Mutation_p.D21A	p.D694A	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN			12	2533	+			694					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2081A>C	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.221984	0.39300	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.35789	1.59;1.29;1.29	4.95	4.95	0.65309	.	0.000000	0.52532	D	0.000065	T	0.57710	0.2072	M	0.76574	2.34	0.26774	N	0.969748	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.54111	-0.8342	10	0.54805	T	0.06	-29.2235	11.0226	0.47726	1.0:0.0:0.0:0.0	.	572;694	Q8ND61-2;Q8ND61	.;CC020_HUMAN	A	694;572;572	ENSP00000253697:D694A;ENSP00000402933:D572A;ENSP00000396081:D572A	ENSP00000253697:D694A	D	+	2	0	C3orf20	14774022	0.970000	0.33590	0.629000	0.29254	0.067000	0.16453	4.675000	0.61619	1.864000	0.54056	0.247000	0.18012	GAC		0.632	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
MYRIP	25924	broad.mit.edu	37	3	40231528	40231528	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:40231528G>A	ENST00000302541.6	+	10	1581	c.1239G>A	c.(1237-1239)agG>agA	p.R413R	MYRIP_ENST00000396217.3_Silent_p.R324R|MYRIP_ENST00000444716.1_Silent_p.R413R|MYRIP_ENST00000539167.1_Silent_p.R226R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.R413R	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	413	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGTGTCCCAGGTCCCGGGCCC	0.637																																						uc003cka.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1237-1239)agG>agA		Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.							89.0	85.0	87.0					3																	40231528		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231528G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1239G>A	3.37:g.40231528G>A						MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R413R|MYRIP_uc010hhw.3_Silent_p.R324R|MYRIP_uc011ayz.2_Silent_p.R226R|FLJ33065_uc003ckb.3_Intron	p.R413R	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	9	1374	+			413			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1239G>A	CCDS2689.1																																																																																				0.637	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460	
PIK3CB	5291	broad.mit.edu	37	3	138374244	138374244	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:138374244T>G	ENST00000477593.1	-	23	3273	c.3200A>C	c.(3199-3201)gAc>gCc	p.D1067A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067A|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1067	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.D1067V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGATCTGTAGTCTTTCCGAAC	0.408																																						uc011bmq.2																			1	Substitution - Missense(1)	p.D1067V(2)	skin(1)	NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(3199-3201)gAc>gCc		Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.							139.0	129.0	132.0					3																	138374244		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374244T>G		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3200A>C	3.37:g.138374244T>G	ENSP00000418143:p.Asp1067Ala					PIK3CB_uc011bmn.2_Missense_Mutation_p.D579A|PIK3CB_uc011bmo.2_Missense_Mutation_p.D518A|PIK3CB_uc011bmp.2_Missense_Mutation_p.D654A|PIK3CB_uc003est.1_Non-coding_Transcript	p.D1067A	NM_006219	NP_006210	P42338	PK3CB_HUMAN			21	3200	-			1067			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3200A>C	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.59|19.59	3.855396|3.855396	0.71719|0.71719	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.71341|.	-0.56;-0.13;-0.56|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Phosphatidylinositol 3-/4-kinase, catalytic (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75133|0.75133	0.3808|0.3808	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.72982|.	0.979;0.971;0.971|.	T|T	0.75645|0.75645	-0.3246|-0.3246	10|5	0.54805|.	T|.	0.06|.	-22.5439|-22.5439	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1067;654;518|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	A|P	1067;518;1067|699	ENSP00000418143:D1067A;ENSP00000438259:D518A;ENSP00000289153:D1067A|.	ENSP00000289153:D1067A|.	D|T	-|-	2|1	0|0	PIK3CB|PIK3CB	139856934|139856934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.398000|7.398000	0.79919|0.79919	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
PIK3CB	5291	broad.mit.edu	37	3	138374281	138374281	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:138374281T>C	ENST00000477593.1	-	23	3236	c.3163A>G	c.(3163-3165)Act>Gct	p.T1055A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T1055A|PIK3CB_ENST00000544716.1_Missense_Mutation_p.T506A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1055	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TTCACTTTAGTAGTCCAGCTT	0.413																																						uc011bmq.2																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(3163-3165)Act>Gct		Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.							135.0	125.0	128.0					3																	138374281		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374281T>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3163A>G	3.37:g.138374281T>C	ENSP00000418143:p.Thr1055Ala					PIK3CB_uc011bmn.2_Missense_Mutation_p.T567A|PIK3CB_uc011bmo.2_Missense_Mutation_p.T506A|PIK3CB_uc011bmp.2_Missense_Mutation_p.T642A|PIK3CB_uc003est.1_Non-coding_Transcript	p.T1055A	NM_006219	NP_006210	P42338	PK3CB_HUMAN			21	3163	-			1055			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3163A>G	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252202	0.80135	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.80653	-1.4;-1.4;-1.4	5.55	5.55	0.83447	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	D	0.90215	0.6941	M	0.82716	2.605	0.80722	D	1	D;D;P	0.89917	1.0;0.995;0.509	D;P;P	0.91635	0.999;0.831;0.785	D	0.91386	0.5131	10	0.66056	D	0.02	-24.6295	15.8615	0.79026	0.0:0.0:0.0:1.0	.	1055;642;506	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	A	1055;506;1055	ENSP00000418143:T1055A;ENSP00000438259:T506A;ENSP00000289153:T1055A	ENSP00000289153:T1055A	T	-	1	0	PIK3CB	139856971	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.868000	0.87116	2.333000	0.79357	0.533000	0.62120	ACT		0.413	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
KCNAB1	7881	broad.mit.edu	37	3	155838668	155838668	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:155838668C>T	ENST00000490337.1	+	1	332	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	KCNAB1_ENST00000389636.5_Missense_Mutation_p.P90S	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	90					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CACAGGCATGCCGCACAGGTA	0.592																																						uc003far.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(268-270)Ccg>Tcg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.							43.0	38.0	40.0					3																	155838668		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:155838668C>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.268C>T	3.37:g.155838668C>T	ENSP00000419952:p.Pro90Ser					KCNAB1_uc011bon.1_Missense_Mutation_p.P90S	p.P90S	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		0	332	+			90					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.268C>T	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287687	0.40494	.	.	ENSG00000169282	ENST00000490337;ENST00000389636	T;T	0.41400	1.0;1.0	5.47	5.47	0.80525	NADP-dependent oxidoreductase domain (2);	.	.	.	.	T	0.28001	0.0690	N	0.08118	0	0.80722	D	1	B;B	0.14438	0.01;0.005	B;B	0.14023	0.01;0.01	T	0.05273	-1.0895	9	0.31617	T	0.26	-16.2783	19.3341	0.94307	0.0:1.0:0.0:0.0	.	90;90	B7Z8E5;Q14722	.;KCAB1_HUMAN	S	90	ENSP00000419952:P90S;ENSP00000374287:P90S	ENSP00000374287:P90S	P	+	1	0	KCNAB1	157321362	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	5.134000	0.64770	2.558000	0.86282	0.557000	0.71058	CCG		0.592	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
VPS8	23355	broad.mit.edu	37	3	184543975	184543975	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:184543975C>G	ENST00000437079.3	+	3	349	c.178C>G	c.(178-180)Cct>Gct	p.P60A	VPS8_ENST00000436792.2_Missense_Mutation_p.P60A|VPS8_ENST00000424463.2_Missense_Mutation_p.P60A|VPS8_ENST00000446204.2_Missense_Mutation_p.P60A|VPS8_ENST00000287546.4_Missense_Mutation_p.P60A	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	60							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTTTGATATTCCTCAAGTTGA	0.318																																						uc021xik.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(178-180)Cct>Gct		Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.							100.0	95.0	97.0					3																	184543975		1842	4098	5940	SO:0001583	missense	23355						zinc ion binding	g.chr3:184543975C>G	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.178C>G	3.37:g.184543975C>G	ENSP00000397879:p.Pro60Ala					VPS8_uc003fpb.1_Missense_Mutation_p.P60A|VPS8_uc010hyd.1_Missense_Mutation_p.P60A|VPS8_uc003fpc.1_Missense_Mutation_p.P60A	p.P60A	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		1	266	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		60					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.178C>G	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902554	0.92035	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000453056;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.14559	-1.0468	10	0.62326	D	0.03	-20.164	19.1739	0.93594	0.0:1.0:0.0:0.0	.	60;60;60	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	A	60	ENSP00000287546:P60A;ENSP00000397879:P60A;ENSP00000404704:P60A;ENSP00000405483:P60A;ENSP00000415161:P60A;ENSP00000389480:P60A;ENSP00000409957:P60A;ENSP00000416150:P60A	ENSP00000287546:P60A	P	+	1	0	VPS8	186026669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.823000	0.75282	2.827000	0.97445	0.650000	0.86243	CCT		0.318	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
ACAP2	23527	broad.mit.edu	37	3	195012473	195012473	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:195012473C>T	ENST00000326793.6	-	20	2255	c.2025G>A	c.(2023-2025)cgG>cgA	p.R675R		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	675					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCAATGGTCCCCGCCCTTGGA	0.413																																						uc003fun.4																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2023-2025)cgG>cgA		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.							112.0	107.0	109.0					3																	195012473		2203	4300	6503	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195012473C>T		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.2025G>A	3.37:g.195012473C>T							p.R675R	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			19	2266	-			675					A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.2025G>A	CCDS33924.1																																																																																				0.413	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	
AFP	174	broad.mit.edu	37	4	74316398	74316398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:74316398delA	ENST00000395792.2	+	11	1456	c.1356delA	c.(1354-1356)agafs	p.R452fs	AFP_ENST00000226359.2_Frame_Shift_Del_p.R452fs	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	452	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATCACCAGAAAAATGGCAG	0.517									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1354-1356)agafs		Homo sapiens alpha-fetoprotein (AFP), mRNA.							92.0	84.0	86.0					4																	74316398		2203	4300	6503	SO:0001589	frameshift_variant	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74316398delA	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1356delA	4.37:g.74316398delA	ENSP00000379138:p.Arg452fs					AFP_uc011cbg.1_Frame_Shift_Del_p.R226fs	p.R452fs	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		10	1403	+	Breast(15;0.00102)		452			Albumin 3.		B2RBU3	Frame_Shift_Del	DEL	ENST00000395792.2	37	c.1356delA	CCDS3556.1																																																																																				0.517	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3		
AFF1	4299	broad.mit.edu	37	4	88048823	88048823	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:88048823G>A	ENST00000307808.6	+	15	3331	c.2911G>A	c.(2911-2913)Gca>Aca	p.A971T	AFF1_ENST00000395146.4_Missense_Mutation_p.A978T|AFF1_ENST00000544085.1_Missense_Mutation_p.A609T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	971					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CATGAGGGAGGCAAAAAAGAT	0.378																																						uc011ccz.2																			0				breast(1)|large_intestine(2)	3						c.(2932-2934)Gca>Aca		Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.							138.0	126.0	130.0					4																	88048823		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88048823G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2911G>A	4.37:g.88048823G>A	ENSP00000305689:p.Ala971Thr					AFF1_uc003hqj.4_Missense_Mutation_p.A971T|AFF1_uc003hqk.4_Missense_Mutation_p.A971T|AFF1_uc011cda.2_Missense_Mutation_p.A609T	p.A978T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	15	3207	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	971					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2932G>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096095	0.76870	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.76839	-1.05;-1.05;-1.05	4.94	4.94	0.65067	.	0.093569	0.46758	N	0.000263	D	0.89410	0.6707	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91307	0.5071	10	0.87932	D	0	-14.9063	16.33	0.83006	0.0:0.0:1.0:0.0	.	978;971;971	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	T	978;971;609	ENSP00000378578:A978T;ENSP00000305689:A971T;ENSP00000440843:A609T	ENSP00000305689:A971T	A	+	1	0	AFF1	88267847	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.764000	0.68826	2.427000	0.82271	0.655000	0.94253	GCA		0.378	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	
NR3C2	4306	broad.mit.edu	37	4	149181209	149181209	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:149181209A>C	ENST00000358102.3	-	3	2180	c.1818T>G	c.(1816-1818)tgT>tgG	p.C606W	NR3C2_ENST00000355292.3_Missense_Mutation_p.C606W|NR3C2_ENST00000512865.1_Missense_Mutation_p.C606W|NR3C2_ENST00000344721.4_Missense_Mutation_p.C606W|NR3C2_ENST00000511528.1_Missense_Mutation_p.C606W	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	606					gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CCTCATCCCCACACACCAAAC	0.413																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1816-1818)tgT>tgG		Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						138.0	130.0	133.0					4																	149181209		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149181209A>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1818T>G	4.37:g.149181209A>C	ENSP00000350815:p.Cys606Trp					NR3C2_uc003ilk.4_Missense_Mutation_p.C606W|NR3C2_uc010iph.3_Non-coding_Transcript	p.C606W	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	2181	-	all_hematologic(180;0.151)		606					B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1818T>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447507	0.63178	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.99829	-7.0;-7.0;-7.0;-7.0;-7.0;-7.0	5.98	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96778	0.9573	9	.	.	.	.	10.1082	0.42546	0.8651:0.0:0.1349:0.0	.	606;606	B0ZBF5;B0ZBF6	.;.	W	606	ENSP00000341390:C606W;ENSP00000347441:C606W;ENSP00000350815:C606W;ENSP00000423510:C606W;ENSP00000343907:C606W;ENSP00000421481:C606W	.	C	-	3	2	NR3C2	149400659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.569000	0.36428	1.073000	0.40885	0.482000	0.46254	TGT		0.413	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
POC5	134359	broad.mit.edu	37	5	74998543	74998543	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr5:74998543T>C	ENST00000428202.2	-	5	589	c.400A>G	c.(400-402)Aca>Gca	p.T134A	POC5_ENST00000510798.1_Missense_Mutation_p.T17A|POC5_ENST00000504862.1_5'UTR|POC5_ENST00000514838.2_Missense_Mutation_p.T106A|POC5_ENST00000446329.2_Missense_Mutation_p.T109A|POC5_ENST00000380475.2_Missense_Mutation_p.T17A	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	134					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTAGAATTTGTTGCTGGTGAG	0.403																																						uc003keh.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(400-402)Aca>Gca		Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.							95.0	93.0	93.0					5																	74998543		1926	4143	6069	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74998543T>C	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.400A>G	5.37:g.74998543T>C	ENSP00000410216:p.Thr134Ala					POC5_uc010izu.3_Missense_Mutation_p.T17A|POC5_uc003keg.4_Missense_Mutation_p.T109A	p.T134A	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			4	597	-			134					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.400A>G	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126869	0.37533	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329;ENST00000503835;ENST00000502826;ENST00000506164	T;T;T;T;T	0.44482	1.97;1.56;0.92;0.92;1.97	5.86	-2.61	0.06171	.	0.342750	0.35407	N	0.003223	T	0.26666	0.0652	N	0.22421	0.69	0.09310	N	1	B;B;B	0.20887	0.049;0.002;0.004	B;B;B	0.20184	0.028;0.003;0.003	T	0.33803	-0.9854	10	0.66056	D	0.02	-12.1412	13.4555	0.61195	0.7158:0.0:0.0:0.2842	.	17;134;109	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	A	134;106;17;17;109;17;17;17	ENSP00000410216:T134A;ENSP00000420971:T106A;ENSP00000369842:T17A;ENSP00000426796:T17A;ENSP00000399481:T109A	ENSP00000369842:T17A	T	-	1	0	POC5	75034299	0.538000	0.26394	0.003000	0.11579	0.940000	0.58332	1.020000	0.30027	-0.158000	0.11040	0.460000	0.39030	ACA		0.403	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408	
HIVEP1	3096	broad.mit.edu	37	6	12121493	12121493	+	Missense_Mutation	SNP	G	G	A	rs199639832		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:12121493G>A	ENST00000379388.2	+	4	1797	c.1465G>A	c.(1465-1467)Gta>Ata	p.V489I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	489					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V489I(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCATTCAGACGTAGAAGACAG	0.527																																						uc003nac.3																			1	Substitution - Missense(1)	p.V489I(2)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(1465-1467)Gta>Ata		Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.							57.0	60.0	59.0					6																	12121493		2079	4228	6307	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121493G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1465G>A	6.37:g.12121493G>A	ENSP00000368698:p.Val489Ile					HIVEP1_uc011diq.2_Non-coding_Transcript	p.V489I	NM_002114	NP_002105	P15822	ZEP1_HUMAN			3	1644	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	489					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.1465G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	3.308	-0.141389	0.06669	.	.	ENSG00000095951	ENST00000379388	T	0.10005	2.92	5.33	1.43	0.22495	.	0.895468	0.09066	N	0.853580	T	0.02304	0.0071	L	0.27053	0.805	0.58432	D	0.999999	B	0.14805	0.011	B	0.12837	0.008	T	0.41034	-0.9531	9	.	.	.	-3.4874	6.8	0.23746	0.2177:0.1271:0.6552:0.0	.	489	P15822	ZEP1_HUMAN	I	489	ENSP00000368698:V489I	.	V	+	1	0	HIVEP1	12229479	0.771000	0.28555	0.001000	0.08648	0.661000	0.39034	3.711000	0.54868	-0.023000	0.13963	-0.137000	0.14449	GTA		0.527	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
SNX14	57231	broad.mit.edu	37	6	86258062	86258062	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:86258062G>C	ENST00000314673.3	-	9	1000	c.824C>G	c.(823-825)tCt>tGt	p.S275C	SNX14_ENST00000505648.1_Missense_Mutation_p.S223C|SNX14_ENST00000346348.3_Missense_Mutation_p.S231C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.S275C|SNX14_ENST00000513865.1_Missense_Mutation_p.S275C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	275	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CACAGAGCCAGACAGAATCTC	0.279																																						uc003pkr.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(823-825)tCt>tGt		Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.							52.0	58.0	56.0					6																	86258062		2203	4297	6500	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86258062G>C	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.824C>G	6.37:g.86258062G>C	ENSP00000313121:p.Ser275Cys					SNX14_uc003pkp.3_Missense_Mutation_p.S138C|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.S223C|SNX14_uc003pks.3_Missense_Mutation_p.S231C|SNX14_uc003pkt.3_Missense_Mutation_p.S275C	p.S275C	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	8	1017	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	275			PXA.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.824C>G	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195755	0.78902	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.35048	1.75;1.73;1.33;1.74;1.73;1.76	4.69	4.69	0.59074	Phox-associated domain (2);	0.167181	0.53938	D	0.000045	T	0.44477	0.1295	L	0.53249	1.67	0.53688	D	0.999973	P;D;P;P	0.54397	0.941;0.966;0.953;0.941	P;P;P;P	0.59546	0.698;0.698;0.859;0.779	T	0.42616	-0.9441	10	0.56958	D	0.05	-14.8478	18.0093	0.89218	0.0:0.0:1.0:0.0	.	275;231;275;223	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	C	231;275;275;223;275;202	ENSP00000257769:S231C;ENSP00000313121:S275C;ENSP00000420938:S275C;ENSP00000427380:S223C;ENSP00000358641:S275C;ENSP00000425630:S202C	ENSP00000313121:S275C	S	-	2	0	SNX14	86314781	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.529000	0.81952	2.321000	0.78463	0.313000	0.20887	TCT		0.279	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	
SIM1	6492	broad.mit.edu	37	6	100901720	100901720	+	Splice_Site	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:100901720C>T	ENST00000369208.3	-	3	958	c.176G>A	c.(175-177)gGg>gAg	p.G59E	SIM1_ENST00000262901.4_Splice_Site_p.G59E			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	59					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCGCCGAGCCCTGTGGAGAC	0.627																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.e2-1		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							41.0	37.0	38.0					6																	100901720		2203	4300	6503	SO:0001630	splice_region_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100901720C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.176-1G>A	6.37:g.100901720C>T						SIM1_uc021zdg.1_Splice_Site_p.G59_splice|SIM1_uc010kcu.3_Splice_Site_p.G59_splice	p.G59_splice	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	2	643	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	59					Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.176_splice	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341417	0.95783	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.04275	3.66;3.66	5.56	5.56	0.83823	Helix-loop-helix DNA-binding (1);	0.290165	0.37761	N	0.001960	T	0.16854	0.0405	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00589	-1.1656	10	0.66056	D	0.02	.	19.5251	0.95201	0.0:1.0:0.0:0.0	.	59	P81133	SIM1_HUMAN	E	59	ENSP00000358210:G59E;ENSP00000262901:G59E	ENSP00000262901:G59E	G	-	2	0	SIM1	101008441	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.484000	0.81180	2.616000	0.88540	0.563000	0.77884	GGG		0.627	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	Missense_Mutation
BVES	11149	broad.mit.edu	37	6	105549004	105549004	+	Missense_Mutation	SNP	G	G	A	rs138992583		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:105549004G>A	ENST00000314641.5	-	8	1259	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BVES_ENST00000446408.2_Missense_Mutation_p.P348L|BVES_ENST00000336775.5_Missense_Mutation_p.P348L	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	348					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGAGATGCCGGTTCAAAAAC	0.453																																						uc003pqw.3																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1042-1044)cCg>cTg		Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.							225.0	193.0	204.0					6																	105549004		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105549004G>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.1043C>T	6.37:g.105549004G>A	ENSP00000313172:p.Pro348Leu					BVES_uc003pqx.3_Missense_Mutation_p.P348L|BVES_uc003pqy.3_Missense_Mutation_p.P348L	p.P348L	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			7	1200	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	348					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.1043C>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	8.222	0.802762	0.16397	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17854	2.25;2.25;2.25	4.93	4.06	0.47325	.	0.336084	0.27393	N	0.019567	T	0.04543	0.0124	N	0.24115	0.695	0.40199	D	0.977494	B	0.24368	0.102	B	0.15052	0.012	T	0.16600	-1.0397	10	0.45353	T	0.12	-9.8887	9.758	0.40515	0.0972:0.0:0.9028:0.0	.	348	Q8NE79	POPD1_HUMAN	L	348	ENSP00000313172:P348L;ENSP00000337259:P348L;ENSP00000397310:P348L	ENSP00000313172:P348L	P	-	2	0	BVES	105655697	0.941000	0.31946	0.826000	0.32828	0.017000	0.09413	1.448000	0.35112	1.198000	0.43158	-0.143000	0.13931	CCG		0.453	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
TIAM2	26230	broad.mit.edu	37	6	155498003	155498003	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:155498003C>A	ENST00000461783.3	+	12	3688	c.2415C>A	c.(2413-2415)gaC>gaA	p.D805E	TIAM2_ENST00000529824.2_Missense_Mutation_p.D805E|TIAM2_ENST00000456144.1_Missense_Mutation_p.D805E|TIAM2_ENST00000456877.2_Missense_Mutation_p.D117E|TIAM2_ENST00000528391.2_Missense_Mutation_p.D141E|TIAM2_ENST00000360366.4_Missense_Mutation_p.D829E|TIAM2_ENST00000318981.5_Missense_Mutation_p.D805E|TIAM2_ENST00000367174.2_Missense_Mutation_p.D181E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	805					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTCCCCGAGACAATGCATGGG	0.408																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2413-2415)gaC>gaA		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							182.0	158.0	166.0					6																	155498003		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155498003C>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2415C>A	6.37:g.155498003C>A	ENSP00000437188:p.Asp805Glu					TIAM2_uc003qqe.3_Missense_Mutation_p.D805E|TIAM2_uc010kjj.3_Missense_Mutation_p.D338E|TIAM2_uc003qqf.3_Missense_Mutation_p.D181E|TIAM2_uc011efl.1_Missense_Mutation_p.D141E|TIAM2_uc003qqg.3_Missense_Mutation_p.D117E	p.D805E	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	11	3688	+		Ovarian(120;0.196)	805					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2415C>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485091	0.26598	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.05199	3.66;3.52;3.63;3.66;3.5;3.69;3.63;3.48;3.49	5.29	4.3	0.51218	.	0.391954	0.29225	N	0.012780	T	0.01189	0.0039	N	0.14661	0.345	0.32147	N	0.584746	B;B;B;B	0.10296	0.001;0.003;0.003;0.001	B;B;B;B	0.08055	0.001;0.003;0.003;0.001	T	0.50074	-0.8870	10	0.15066	T	0.55	.	7.4077	0.27000	0.2937:0.5525:0.1538:0.0	.	141;805;829;805	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	E	805;1051;805;805;805;181;829;805;117;141	ENSP00000437188:D805E;ENSP00000434901:D805E;ENSP00000407746:D805E;ENSP00000327315:D805E;ENSP00000356142:D181E;ENSP00000353528:D829E;ENSP00000433348:D805E;ENSP00000407183:D117E;ENSP00000435335:D141E	ENSP00000327315:D805E	D	+	3	2	TIAM2	155539695	0.979000	0.34478	0.849000	0.33467	0.132000	0.20833	2.262000	0.43285	2.639000	0.89480	0.655000	0.94253	GAC		0.408	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
FNDC1	84624	broad.mit.edu	37	6	159672498	159672498	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:159672498G>A	ENST00000297267.9	+	17	5199	c.4999G>A	c.(4999-5001)Gtg>Atg	p.V1667M	FNDC1_ENST00000340366.6_Missense_Mutation_p.V1604M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1667	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGTGGTGGCCGTGGAAGGTTG	0.537																																						uc010kjv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(4999-5001)Gtg>Atg		Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.							64.0	61.0	62.0					6																	159672498		2041	4195	6236	SO:0001583	missense	84624					extracellular region		g.chr6:159672498G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4999G>A	6.37:g.159672498G>A	ENSP00000297267:p.Val1667Met						p.V1667M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	16	5199	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1667			Fibronectin type-III 5.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.4999G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.92|13.92	2.380257|2.380257	0.42207|0.42207	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.60171	.|0.21;0.21	5.51|5.51	-1.09|-1.09	0.09904|0.09904	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.313269	.|0.33457	.|N	.|0.004898	T|T	0.30417|0.30417	0.0764|0.0764	L|L	0.41124|0.41124	1.26|1.26	0.26329|0.26329	N|N	0.977559|0.977559	.|P	.|0.43578	.|0.811	.|P	.|0.45071	.|0.468	T|T	0.43032|0.43032	-0.9416|-0.9416	5|9	.|.	.|.	.|.	-2.0997|-2.0997	11.5902|11.5902	0.50941|0.50941	0.155:0.0:0.845:0.0|0.155:0.0:0.845:0.0	.|.	.|1667	.|Q4ZHG4	.|FNDC1_HUMAN	H|M	1562|1667;1604	.|ENSP00000297267:V1667M;ENSP00000342460:V1604M	.|.	R|V	+|+	2|1	0|0	FNDC1|FNDC1	159592488|159592488	0.222000|0.222000	0.23652|0.23652	0.918000|0.918000	0.36340|0.36340	0.987000|0.987000	0.75469|0.75469	0.762000|0.762000	0.26503|0.26503	-0.560000|-0.560000	0.06102|0.06102	0.585000|0.585000	0.79938|0.79938	CGT|GTG		0.537	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
MAD1L1	8379	broad.mit.edu	37	7	2255875	2255875	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:2255875C>T	ENST00000406869.1	-	8	1283	c.726G>A	c.(724-726)gtG>gtA	p.V242V	MAD1L1_ENST00000265854.7_Silent_p.V242V|MAD1L1_ENST00000402746.1_Silent_p.V150V|MAD1L1_ENST00000399654.2_Silent_p.V242V|MAD1L1_ENST00000486340.1_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	242					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCATGTTCTTCACAATCGCTG	0.597																																						uc003slh.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(724-726)gtG>gtA		Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.							57.0	60.0	59.0					7																	2255875		2030	4185	6215	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2255875C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.726G>A	7.37:g.2255875C>T						MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.V242V|MAD1L1_uc003slg.1_Silent_p.V242V|MAD1L1_uc010ksh.1_Silent_p.V242V|MAD1L1_uc003sli.1_Silent_p.V150V|MAD1L1_uc010ksi.1_Silent_p.V195V|MAD1L1_uc010ksj.3_Silent_p.V242V	p.V242V	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	7	992	-		Ovarian(82;0.0272)	242					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.726G>A	CCDS43539.1																																																																																				0.597	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	
HOXA13	3209	broad.mit.edu	37	7	27238936	27238936	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:27238936A>G	ENST00000222753.4	-	1	789	c.761T>C	c.(760-762)gTg>gCg	p.V254A	HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000472494.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	254					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCCCGGCACCACTGGCATATC	0.672			T	NUP98	AML																																	uc003szb.1				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(760-762)gTg>gCg		Homo sapiens homeobox A13 (HOXA13), mRNA.							34.0	38.0	37.0					7																	27238936		2203	4299	6502	SO:0001583	missense	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27238936A>G		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.761T>C	7.37:g.27238936A>G	ENSP00000222753:p.Val254Ala					HOTTIP_uc022aau.1_5'Flank	p.V254A	NM_000522	NP_000513	P31271	HXA13_HUMAN			0	790	-			254					A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	37	c.761T>C	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.998115	0.93227	.	.	ENSG00000106031	ENST00000222753	T	0.57907	0.37	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.88105	2.93	0.53688	D	0.999972	P	0.45283	0.855	P	0.48334	0.574	T	0.74731	-0.3566	10	0.66056	D	0.02	.	13.3724	0.60721	1.0:0.0:0.0:0.0	.	254	P31271	HXA13_HUMAN	A	254	ENSP00000222753:V254A	ENSP00000222753:V254A	V	-	2	0	HOXA13	27205461	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.792000	0.62467	1.810000	0.52873	0.374000	0.22700	GTG		0.672	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3		
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:57187809T>G	ENST00000331162.4	-	5	1583	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453																																						uc010kzo.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1312-1314)aAa>aCa		Homo sapiens zinc finger protein 479 (ZNF479), mRNA.							15.0	13.0	14.0					7																	57187809		1651	3694	5345	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187809T>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1313A>C	7.37:g.57187809T>G	ENSP00000333776:p.Lys438Thr						p.K438T	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		4	1584	-			438						Missense_Mutation	SNP	ENST00000331162.4	37	c.1313A>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.944203	0.00479	.	.	ENSG00000185177	ENST00000331162	T	0.58060	0.36	0.955	-1.91	0.07641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32133	0.0819	N	0.20574	0.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10497	-1.0627	9	0.59425	D	0.04	.	4.2411	0.10648	0.1773:0.0:0.4807:0.342	.	438	Q96JC4	ZN479_HUMAN	T	438	ENSP00000333776:K438T	ENSP00000333776:K438T	K	-	2	0	ZNF479	57191751	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-1.673000	0.01951	-4.325000	0.00056	-4.471000	0.00005	AAA		0.453	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ASZ1	136991	broad.mit.edu	37	7	117067510	117067510	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:117067510G>A	ENST00000284629.2	-	1	67	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGCGCTCGCCGCCATGCCAGC	0.692											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003vjb.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(4-6)gCg>gTg		Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.							43.0	41.0	42.0					7																	117067510		2202	4297	6499	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067510G>A	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.5C>T	7.37:g.117067510G>A	ENSP00000284629:p.Ala2Val		OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478	ASZ1_uc011kno.1_Missense_Mutation_p.A2V|ASZ1_uc011knp.1_5'UTR	p.A2V	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		0	68	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		2						Missense_Mutation	SNP	ENST00000284629.2	37	c.5C>T	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100468	0.56183	.	.	ENSG00000154438	ENST00000284629	T	0.68903	-0.36	5.14	4.26	0.50523	.	0.575022	0.17323	N	0.178403	T	0.79251	0.4414	M	0.76002	2.32	0.27159	N	0.961226	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.70498	-0.4855	10	0.72032	D	0.01	.	9.7025	0.40196	0.0938:0.0:0.9062:0.0	.	2;2	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	V	2	ENSP00000284629:A2V	ENSP00000284629:A2V	A	-	2	0	ASZ1	116854746	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	4.378000	0.59568	1.539000	0.49286	-0.136000	0.14681	GCG		0.692	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
TRPV6	55503	broad.mit.edu	37	7	142575507	142575507	+	Silent	SNP	C	C	T	rs145875993		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:142575507C>T	ENST00000359396.3	-	3	491	c.246G>A	c.(244-246)gcG>gcA	p.A82A	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	82					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTATGTGTAGCGCTGTTTCCC	0.562																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(244-246)gcG>gcA		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.		C		0,4406		0,0,2203	106.0	100.0	102.0		246	-9.7	0.0	7	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPV6	NM_018646.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		82/726	142575507	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142575507C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.246G>A	7.37:g.142575507C>T						TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	p.A82A	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			2	475	-	Melanoma(164;0.059)		82					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.246G>A	CCDS5874.1																																																																																				0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						uc003wel.3																			5	Substitution - coding silent(5)	p.N336N(10)	endometrium(2)|lung(1)|prostate(1)|kidney(1)	breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)aaT>aaC		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C						ARHGEF5_uc003wek.3_Silent_p.N336N	p.N336N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			1	1126	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	
DPYSL2	1808	broad.mit.edu	37	8	26492400	26492400	+	Silent	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr8:26492400C>A	ENST00000311151.5	+	8	1207	c.795C>A	c.(793-795)gcC>gcA	p.A265A	DPYSL2_ENST00000521913.1_Silent_p.A229A|DPYSL2_ENST00000523027.1_Silent_p.A229A|DPYSL2_ENST00000521983.1_3'UTR	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	265					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGTCATCGCCCAGGCACGGA	0.607																																						uc003xfb.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(793-795)gcC>gcA		Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.							92.0	77.0	82.0					8																	26492400		2203	4300	6503	SO:0001819	synonymous_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26492400C>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.795C>A	8.37:g.26492400C>A						DPYSL2_uc003xfa.3_Silent_p.A370A|DPYSL2_uc011lag.2_Silent_p.A265A|DPYSL2_uc011lah.2_Silent_p.A229A	p.A265A	NM_001386	NP_001377	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	7	1226	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	265					A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	c.795C>A	CCDS6051.1																																																																																				0.607	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	
LYN	4067	broad.mit.edu	37	8	56854426	56854426	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr8:56854426G>A	ENST00000519728.1	+	2	304	c.8G>A	c.(7-9)tGt>tAt	p.C3Y	LYN_ENST00000520220.2_Missense_Mutation_p.C3Y	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	3					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	AATATGGGATGTATAAAATCA	0.343																																						uc003xsk.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(7-9)tGt>tAt		Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.							86.0	80.0	82.0					8																	56854426		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56854426G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.8G>A	8.37:g.56854426G>A	ENSP00000428924:p.Cys3Tyr					LYN_uc003xsl.4_Missense_Mutation_p.C3Y	p.C3Y	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		1	290	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	3					A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.8G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583803	0.86748	.	.	ENSG00000254087	ENST00000519728;ENST00000520220;ENST00000520050	T;T;T	0.76709	-0.88;-1.04;0.22	5.72	5.72	0.89469	.	0.090722	0.85682	D	0.000000	D	0.86994	0.6067	L	0.57536	1.79	0.80722	D	1	P;D	0.89917	0.714;1.0	B;D	0.79784	0.414;0.993	D	0.87346	0.2334	10	0.87932	D	0	.	19.8752	0.96867	0.0:0.0:1.0:0.0	.	94;3	Q6NUK7;P07948	.;LYN_HUMAN	Y	3	ENSP00000428924:C3Y;ENSP00000428424:C3Y;ENSP00000428313:C3Y	ENSP00000428924:C3Y	C	+	2	0	LYN	57016980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.925000	0.92832	2.699000	0.92147	0.591000	0.81541	TGT		0.343	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350	
DMRT2	10655	broad.mit.edu	37	9	1056405	1056405	+	Missense_Mutation	SNP	G	G	A	rs541457019		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:1056405G>A	ENST00000358146.2	+	3	818	c.818G>A	c.(817-819)cGc>cAc	p.R273H	DMRT2_ENST00000302441.6_Missense_Mutation_p.R273H|DMRT2_ENST00000382251.3_Missense_Mutation_p.R273H|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	273					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGCCCAACCGCATGGTGCCT	0.473																																						uc003zha.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(817-819)cGc>cAc		Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.							95.0	91.0	92.0					9																	1056405		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056405G>A	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.818G>A	9.37:g.1056405G>A	ENSP00000350865:p.Arg273His					DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.R117H|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.R273H	p.R273H	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	3	1018	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	273					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.818G>A	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505164	0.26949	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.24350	1.86;1.86;1.86	5.53	3.69	0.42338	.	0.302422	0.37095	N	0.002246	T	0.24624	0.0597	L	0.55481	1.735	0.32848	D	0.506258	B;B	0.25667	0.01;0.131	B;B	0.22880	0.005;0.042	T	0.22173	-1.0224	10	0.42905	T	0.14	-7.1803	11.7319	0.51741	0.1449:0.0:0.8551:0.0	.	273;117	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	H	273	ENSP00000371686:R273H;ENSP00000305785:R273H;ENSP00000350865:R273H	ENSP00000305785:R273H	R	+	2	0	DMRT2	1046405	0.605000	0.26941	0.396000	0.26296	0.936000	0.57629	0.835000	0.27531	0.706000	0.31912	0.585000	0.79938	CGC		0.473	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557	
KIAA1045	23349	broad.mit.edu	37	9	34971375	34971375	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:34971375G>T	ENST00000242315.3	+	2	162	c.80G>T	c.(79-81)gGg>gTg	p.G27V	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G27V	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	27							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCAAGGATGGGCTGCGGGAC	0.607																																						uc003zvq.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(79-81)gGg>gTg		Homo sapiens KIAA1045 (KIAA1045), mRNA.							83.0	91.0	88.0					9																	34971375		2144	4246	6390	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971375G>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.80G>T	9.37:g.34971375G>T	ENSP00000242315:p.Gly27Val					KIAA1045_uc003zvr.3_Missense_Mutation_p.G27V	p.G27V	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		1	258	+			27					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.80G>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	24.5	4.533268	0.85812	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.66	5.66	0.87406	.	0.122889	0.53938	D	0.000046	T	0.78091	0.4229	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79087	-0.1947	9	0.72032	D	0.01	-12.5342	18.746	0.91792	0.0:0.0:1.0:0.0	.	27	Q9UPV7	K1045_HUMAN	V	27	.	ENSP00000242315:G27V	G	+	2	0	KIAA1045	34961375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.365000	0.79537	2.657000	0.90304	0.655000	0.94253	GGG		0.607	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592	
OR13C3	138803	broad.mit.edu	37	9	107298263	107298263	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:107298263C>A	ENST00000374781.2	-	1	874	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATATGATCACCACAGTCAGG	0.418																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(832-834)Gtg>Ttg		Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.							137.0	128.0	131.0					9																	107298263		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298263C>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.832G>T	9.37:g.107298263C>A	ENSP00000363913:p.Val278Leu						p.V278L	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			0	832	-			278					Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.832G>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848210	0.71603	.	.	ENSG00000204246	ENST00000374781	T	0.00355	7.91	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	D	0.000932	T	0.01092	0.0036	M	0.91663	3.23	0.34897	D	0.746108	D	0.89917	1.0	D	0.80764	0.994	T	0.49437	-0.8940	10	0.87932	D	0	.	15.1793	0.72941	0.0:1.0:0.0:0.0	.	278	Q8NGS6	O13C3_HUMAN	L	278	ENSP00000363913:V278L	ENSP00000363913:V278L	V	-	1	0	OR13C3	106338084	0.224000	0.23674	0.998000	0.56505	0.919000	0.55068	0.710000	0.25748	2.508000	0.84585	0.655000	0.94253	GTG		0.418	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
CCNB3	85417	broad.mit.edu	37	X	50053319	50053319	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:50053319G>T	ENST00000376042.1	+	6	2448	c.2150G>T	c.(2149-2151)aGc>aTc	p.S717I	CCNB3_ENST00000276014.7_Missense_Mutation_p.S717I|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	717					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.S717I(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAGGAGAAAAGCACCATGGAA	0.453																																						uc004dox.4																			2	Substitution - Missense(2)	p.S717I(3)	prostate(2)	breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2149-2151)aGc>aTc		Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.							37.0	35.0	36.0					X																	50053319		2202	4300	6502	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053319G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2150G>T	X.37:g.50053319G>T	ENSP00000365210:p.Ser717Ile					CCNB3_uc004doy.3_Missense_Mutation_p.S717I|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	p.S717I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			5	2448	+	Ovarian(276;0.236)		717					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2150G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	7.241	0.601250	0.13939	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.35048	1.33;1.33	4.28	-3.41	0.04839	.	681.600000	0.00674	N	0.000649	T	0.23649	0.0572	L	0.36672	1.1	0.09310	N	1	B	0.22909	0.077	B	0.19391	0.025	T	0.03852	-1.0998	9	.	.	.	.	0.2533	0.00208	0.2825:0.2801:0.188:0.2494	.	717	Q8WWL7	CCNB3_HUMAN	I	717	ENSP00000365210:S717I;ENSP00000276014:S717I	.	S	+	2	0	CCNB3	50070059	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.015000	0.13355	-1.057000	0.03201	-0.191000	0.12829	AGC		0.453	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
ZC3H12B	340554	broad.mit.edu	37	X	64721739	64721739	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:64721739G>A	ENST00000338957.4	+	5	1228	c.1161G>A	c.(1159-1161)tcG>tcA	p.S387S	ZC3H12B_ENST00000423889.3_Silent_p.S376S	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	387							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCAGCGTTCGGTGGCTGATG	0.527																																						uc010nko.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1159-1161)tcG>tcA		Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.							28.0	28.0	28.0					X																	64721739		1950	4130	6080	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64721739G>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1161G>A	X.37:g.64721739G>A							p.S387S	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			4	1228	+			376					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.1161G>A	CCDS48131.2																																																																																				0.527	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
AWAT2	158835	broad.mit.edu	37	X	69263788	69263788	+	Silent	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:69263788A>G	ENST00000276101.3	-	3	260	c.255T>C	c.(253-255)taT>taC	p.Y85Y		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	85					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TGAGAGGGAAATAATCGCTGT	0.602																																					NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						c.(253-255)taT>taC		Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.							44.0	35.0	38.0					X																	69263788		2203	4300	6503	SO:0001819	synonymous_variant	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69263788A>G	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.255T>C	X.37:g.69263788A>G							p.Y85Y	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			2	261	-			85					Q6IEE3|Q6P437	Silent	SNP	ENST00000276101.3	37	c.255T>C	CCDS35320.1																																																																																				0.602	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254	
NONO	4841	broad.mit.edu	37	X	70514099	70514099	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:70514099T>C	ENST00000276079.8	+	5	576	c.371T>C	c.(370-372)aTt>aCt	p.I124T	NONO_ENST00000373841.1_Missense_Mutation_p.I124T|NONO_ENST00000373856.3_Missense_Mutation_p.I124T|NONO_ENST00000535149.1_Missense_Mutation_p.I35T|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	124	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTAGCGGAGATTGCCAAAGTG	0.488			T	TFE3	papillary renal cancer																																	uc004dzo.3				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(370-372)aTt>aCt		Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.							86.0	68.0	74.0					X																	70514099		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514099T>C	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.371T>C	X.37:g.70514099T>C	ENSP00000276079:p.Ile124Thr					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.I124T|NONO_uc004dzp.3_Missense_Mutation_p.I124T|NONO_uc011mpv.2_Missense_Mutation_p.I35T|NONO_uc004dzq.3_5'UTR	p.I124T	NM_001145408	NP_001138882	Q15233	NONO_HUMAN			5	1081	+	Renal(35;0.156)		124			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.371T>C	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	t	16.24	3.066049	0.55539	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000420903;ENST00000413858;ENST00000454976	T;T;T;T;T;T;T	0.40756	2.41;2.41;2.41;2.41;1.02;2.41;2.41	4.66	4.66	0.58398	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	N	0.01631	-0.79	0.80722	D	1	B	0.23540	0.087	B	0.37989	0.262	T	0.27739	-1.0065	10	0.45353	T	0.12	-9.8184	13.4244	0.61018	0.0:0.0:0.0:1.0	.	124	Q15233	NONO_HUMAN	T	35;124;124;124;107;124;124	ENSP00000441364:I35T;ENSP00000276079:I124T;ENSP00000362963:I124T;ENSP00000362947:I124T;ENSP00000410299:I107T;ENSP00000413350:I124T;ENSP00000406673:I124T	ENSP00000276079:I124T	I	+	2	0	NONO	70430824	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.740000	0.84986	1.741000	0.51731	0.430000	0.28490	ATT		0.488	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363	
TAF1	6872	broad.mit.edu	37	X	70586172	70586172	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:70586172C>T	ENST00000373790.4	+	1	59	c.8C>T	c.(7-9)cCc>cTc	p.P3L	TAF1_ENST00000276072.3_Missense_Mutation_p.P3L|TAF1_ENST00000423759.1_Missense_Mutation_p.P3L|TAF1_ENST00000449580.1_Missense_Mutation_p.P3L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	3	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTATGGGACCCGGCTGCGAT	0.562																																						uc004dzu.4																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(7-9)cCc>cTc		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.							67.0	56.0	60.0					X																	70586172		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70586172C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.8C>T	X.37:g.70586172C>T	ENSP00000362895:p.Pro3Leu					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.P3L	p.P3L	NM_138923	NP_620278	P21675	TAF1_HUMAN			0	59	+	Renal(35;0.156)	all_lung(315;0.000321)	3			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.8C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.200810	0.38905	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10192	2.9;2.97;3.07;3.02	4.83	-1.43	0.08884	.	0.805255	0.10173	N	0.706843	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40627	-0.9553	10	0.87932	D	0	.	0.5411	0.00645	0.2756:0.3303:0.1327:0.2615	.	3;3	P21675;P21675-2	TAF1_HUMAN;.	L	3	ENSP00000362895:P3L;ENSP00000389000:P3L;ENSP00000406549:P3L;ENSP00000276072:P3L	ENSP00000276072:P3L	P	+	2	0	TAF1	70502897	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-0.188000	0.09642	-0.619000	0.05648	0.399000	0.26434	CCC		0.562	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
ACTRT1	139741	broad.mit.edu	37	X	127185764	127185764	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:127185764G>A	ENST00000371124.3	-	1	618	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	141						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A141V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGCTGCCACCGCATGATTAGA	0.522																																						uc004eum.3																			1	Substitution - Missense(1)	p.A141V(2)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(421-423)gCg>gTg		Homo sapiens actin-related protein T1 (ACTRT1), mRNA.							192.0	176.0	182.0					X																	127185764		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185764G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.422C>T	X.37:g.127185764G>A	ENSP00000360165:p.Ala141Val						p.A141V	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			0	619	-			141					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.422C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148347	0.37923	.	.	ENSG00000123165	ENST00000371124	D	0.97811	-4.55	3.75	1.94	0.25998	.	0.094216	0.44097	D	0.000492	D	0.98673	0.9555	H	0.94462	3.54	0.43207	D	0.995069	D	0.89917	1.0	D	0.97110	1.0	D	0.97562	1.0099	10	0.87932	D	0	.	5.6715	0.17725	0.113:0.0:0.6924:0.1946	.	141	Q8TDG2	ACTT1_HUMAN	V	141	ENSP00000360165:A141V	ENSP00000360165:A141V	A	-	2	0	ACTRT1	127013445	1.000000	0.71417	0.020000	0.16555	0.085000	0.17905	3.934000	0.56553	0.390000	0.25115	0.538000	0.68166	GCG		0.522	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
SLC25A14	9016	broad.mit.edu	37	X	129492634	129492634	+	Silent	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:129492634A>G	ENST00000218197.5	+	6	746	c.519A>G	c.(517-519)ggA>ggG	p.G173G	SLC25A14_ENST00000339231.3_Silent_p.G170G|SLC25A14_ENST00000543953.1_Silent_p.G138G|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000545805.1_Silent_p.G173G|SLC25A14_ENST00000361980.5_Silent_p.G170G	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	173					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGGCTCAAGGAAGCTTGTTCC	0.373																																						uc004evr.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(508-510)ggA>ggG		Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.							114.0	103.0	106.0					X																	129492634		2203	4300	6503	SO:0001819	synonymous_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129492634A>G	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.519A>G	X.37:g.129492634A>G						SLC25A14_uc010nrg.3_Silent_p.G170G|SLC25A14_uc011mut.2_Missense_Mutation_p.K110E|SLC25A14_uc011muu.2_Silent_p.G173G|SLC25A14_uc004evp.1_Silent_p.G173G|SLC25A14_uc004evq.1_Silent_p.G170G	p.G170G	NM_022810	NP_073721	O95258	UCP5_HUMAN			5	682	+			173					D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	c.510A>G	CCDS14623.1																																																																																				0.373	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951	
GPR112	139378	broad.mit.edu	37	X	135433699	135433699	+	Splice_Site	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:135433699C>T	ENST00000394143.1	+	7	7112	c.6821C>T	c.(6820-6822)tCg>tTg	p.S2274L	GPR112_ENST00000394141.1_Splice_Site_p.S2069L|GPR112_ENST00000412101.1_Splice_Site_p.S2069L|GPR112_ENST00000370652.1_Splice_Site_p.S2274L|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2274					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACGGAAAATTCGGTAAAATAA	0.269																																						uc004ezu.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.e7+1		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							45.0	43.0	44.0					X																	135433699		2202	4294	6496	SO:0001630	splice_region_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135433699C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6822+1C>T	X.37:g.135433699C>T						GPR112_uc010nsb.1_Splice_Site_p.S2069_splice|GPR112_uc010nsc.1_Intron	p.S2274_splice	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			7	7113	+	Acute lymphoblastic leukemia(192;0.000127)		2274					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.6822_splice	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	19.70	3.877374	0.72294	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.30448	1.56;1.56;1.53;1.53	4.33	3.45	0.39498	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05354	-1.0890	9	0.62326	D	0.03	.	7.0192	0.24904	0.0:0.1866:0.6161:0.1972	.	2069;2274	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	2274;2274;2069;2069	ENSP00000377699:S2274L;ENSP00000359686:S2274L;ENSP00000416526:S2069L;ENSP00000377697:S2069L	ENSP00000359686:S2274L	S	+	2	0	GPR112	135261365	1.000000	0.71417	0.811000	0.32455	0.818000	0.46254	1.848000	0.39309	0.255000	0.21593	-0.190000	0.12839	TCG		0.269	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		Missense_Mutation
ATP11C	286410	broad.mit.edu	37	X	138879436	138879436	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:138879436C>A	ENST00000327569.3	-	11	1014	c.916G>T	c.(916-918)Gct>Tct	p.A306S	ATP11C_ENST00000370543.1_Missense_Mutation_p.A306S|ATP11C_ENST00000370557.1_Missense_Mutation_p.A303S|ATP11C_ENST00000361648.2_Missense_Mutation_p.A306S|ATP11C_ENST00000359686.2_Missense_Mutation_p.A306S|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	306					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATACTGCAGCTTTGGTCAGT	0.343																																						uc004faz.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(916-918)Gct>Tct		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							110.0	103.0	106.0					X																	138879436		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138879436C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.916G>T	X.37:g.138879436C>A	ENSP00000332756:p.Ala306Ser					ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.A306S	p.A306S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			10	1015	-	Acute lymphoblastic leukemia(192;0.000127)		306					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.916G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305093	0.81247	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	5.27	5.27	0.74061	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	N	0.26130	0.795	0.58432	D	0.999998	D;D	0.76494	0.997;0.999	D;D	0.72338	0.961;0.977	D	0.88682	0.3203	10	0.09590	T	0.72	.	17.0524	0.86523	0.0:1.0:0.0:0.0	.	306;306	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	S	303;306;306;306;306	ENSP00000359588:A303S;ENSP00000355165:A306S;ENSP00000332756:A306S;ENSP00000359574:A306S;ENSP00000352715:A306S	ENSP00000332756:A306S	A	-	1	0	ATP11C	138707102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.322000	0.78497	0.600000	0.82982	GCT		0.343	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
TKTL1	8277	broad.mit.edu	37	X	153543586	153543586	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:153543586G>A	ENST00000369915.3	+	7	1117	c.928G>A	c.(928-930)Gtt>Att	p.V310I	TKTL1_ENST00000369912.2_Missense_Mutation_p.V254I|TKTL1_ENST00000217905.7_Missense_Mutation_p.V50I	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	310					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACAGAGTCGTTGTGCTGGA	0.483													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14049	0.0		0.0	False		,,,				2504	0.0					uc004fkg.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(928-930)Gtt>Att		Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.							195.0	153.0	167.0					X																	153543586		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153543586G>A	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.928G>A	X.37:g.153543586G>A	ENSP00000358931:p.Val310Ile					TKTL1_uc011mzl.2_Missense_Mutation_p.V304I|TKTL1_uc011mzm.2_Missense_Mutation_p.V106I|TKTL1_uc004fkh.3_Missense_Mutation_p.V254I	p.V310I	NM_012253	NP_001139406	P51854	TKTL1_HUMAN			6	1114	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		310					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.928G>A	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.247403	0.00271	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.92048	-2.96;-2.96;-2.96	4.1	-8.2	0.01045	Transketolase-like, pyrimidine-binding domain (2);	0.343327	0.30277	N	0.009994	T	0.81128	0.4758	N	0.20357	0.565	0.09310	N	1	B;B;B	0.17268	0.021;0.004;0.004	B;B;B	0.24006	0.05;0.012;0.012	T	0.60480	-0.7255	10	0.12103	T	0.63	-4.2786	15.1071	0.72329	0.3406:0.0:0.6594:0.0	.	50;304;310	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	I	310;254;50;254	ENSP00000358931:V310I;ENSP00000217905:V50I;ENSP00000358928:V254I	ENSP00000217905:V50I	V	+	1	0	TKTL1	153196780	0.051000	0.20477	0.004000	0.12327	0.012000	0.07955	0.064000	0.14437	-2.530000	0.00492	-1.915000	0.00519	GTT		0.483	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253	
