#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CNTNAP4	85445	broad.mit.edu	37	16	76528820	76528820	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:76528820G>A	ENST00000476707.1	+	13	2242	c.2103G>A	c.(2101-2103)ctG>ctA	p.L701L	CNTNAP4_ENST00000478060.1_Silent_p.L625L|CNTNAP4_ENST00000307431.8_Silent_p.L697L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L649L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	698	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAACCCCTCTGAGTTGGTGGG	0.408																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2089-2091)ctG>ctA		contactin associated protein-like 4							133.0	129.0	131.0					16																	76528820		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76528820G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2103G>A	16.37:g.76528820G>A						CNTNAP4_ENST00000476707.1_Silent_p.L701L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L649L|CNTNAP4_ENST00000478060.1_Silent_p.L625L	p.L697L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			15	2476	+			698			Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2091G>A																																																																																					0.408	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		35	106	0	0	0	1	0	35	106				
SUMF1	285362	broad.mit.edu	37	3	4403883	4403883	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:4403883G>C	ENST00000272902.5	-	9	1105	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	SUMF1_ENST00000534863.1_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.S337C|SUMF1_ENST00000458465.2_Missense_Mutation_p.S225C|SUMF1_ENST00000383843.5_Missense_Mutation_p.S332C	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	357	Interaction with sulfatases.				cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ATTCGAAGCAGAGCTATCAGG	0.532																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1069-1071)tCt>tGt		sulfatase modifying factor 1							88.0	81.0	84.0					3																	4403883		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4403883G>C	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.1070C>G	3.37:g.4403883G>C	ENSP00000272902:p.Ser357Cys					SUMF1_ENST00000534863.1_Intron|SUMF1_ENST00000458465.2_Missense_Mutation_p.S225C|SUMF1_ENST00000383843.5_Missense_Mutation_p.S332C|SUMF1_ENST00000405420.2_Missense_Mutation_p.S337C	p.S357C	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	9	1105	-		Melanoma(143;0.068)|Colorectal(144;0.233)	357			Interaction with sulfatases.		B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.1070C>G	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698196	0.88830	.	.	ENSG00000144455	ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D	0.97710	-4.5;-4.5;-3.5;-4.5	6.02	6.02	0.97574	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.660669	0.16341	N	0.218693	D	0.99080	0.9684	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.99	D	0.99879	1.1109	10	0.72032	D	0.01	.	19.3122	0.94192	0.0:0.0:1.0:0.0	.	225;332;337;357	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	C	357;332;225;337	ENSP00000272902:S357C;ENSP00000373355:S332C;ENSP00000410060:S225C;ENSP00000384977:S337C	ENSP00000272902:S357C	S	-	2	0	SUMF1	4378883	1.000000	0.71417	0.970000	0.41538	0.844000	0.47949	8.243000	0.89821	2.865000	0.98341	0.655000	0.94253	TCT		0.532	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		14	68	0	0	0	1	0	14	68				
FIGN	55137	broad.mit.edu	37	2	164468075	164468075	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:164468075G>C	ENST00000333129.3	-	3	581	c.267C>G	c.(265-267)agC>agG	p.S89R	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	89					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCGAATAGTTGCTGAGTACGG	0.453																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(265-267)agC>agG		fidgetin							180.0	165.0	169.0					2																	164468075		1897	4121	6018	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164468075G>C	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.267C>G	2.37:g.164468075G>C	ENSP00000333836:p.Ser89Arg					FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	p.S89R	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	581	-			89					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.267C>G	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645661	0.47258	.	.	ENSG00000182263	ENST00000333129	T	0.25250	1.81	6.17	4.29	0.51040	.	0.114802	0.64402	U	0.000014	T	0.18299	0.0439	L	0.40543	1.245	0.40605	D	0.98161	B	0.33379	0.41	B	0.29440	0.102	T	0.08186	-1.0734	10	0.87932	D	0	-22.1392	6.4835	0.22075	0.2032:0.1338:0.663:0.0	.	89	Q5HY92	FIGN_HUMAN	R	89	ENSP00000333836:S89R	ENSP00000333836:S89R	S	-	3	2	FIGN	164176321	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.541000	0.45735	1.626000	0.50381	0.655000	0.94253	AGC		0.453	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		43	205	0	0	0	1	0	43	205				
SPAG6	9576	broad.mit.edu	37	10	22700008	22700008	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:22700008G>A	ENST00000376624.3	+	10	1505	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	SPAG6_ENST00000376601.1_Missense_Mutation_p.G216S|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.G430S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376603.2_Missense_Mutation_p.G531S|SPAG6_ENST00000490361.1_3'UTR	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	455					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AACAAGTGGTGGCCTTAAAAA	0.398																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(1591-1593)Ggc>Agc		sperm associated antigen 6							79.0	78.0	78.0					10																	22700008		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22700008G>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1363G>A	10.37:g.22700008G>A	ENSP00000365811:p.Gly455Ser					SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.G455S|SPAG6_ENST00000538630.1_Missense_Mutation_p.G430S|SPAG6_ENST00000376601.1_Missense_Mutation_p.G216S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR	p.G531S			O75602	SPAG6_HUMAN			10	1733	+			455					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.1591G>A	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431756	0.83776	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630	T;T;T;T	0.63580	-0.05;-0.05;0.56;-0.05	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.81239	2.535	0.80722	D	1	P;P;P	0.42941	0.691;0.794;0.546	B;B;B	0.44224	0.323;0.444;0.356	T	0.66744	-0.5846	10	0.19590	T	0.45	-21.1718	20.4135	0.99023	0.0:0.0:1.0:0.0	.	430;531;455	B4DXZ4;O75602-3;O75602	.;.;SPAG6_HUMAN	S	455;531;216;430	ENSP00000365811:G455S;ENSP00000365788:G531S;ENSP00000365786:G216S;ENSP00000441325:G430S	ENSP00000365786:G216S	G	+	1	0	SPAG6	22740014	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.971000	0.88012	2.835000	0.97688	0.591000	0.81541	GGC		0.398	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			11	89	0	0	0	1	0	11	89				
SNHG14	104472715	broad.mit.edu	37	15	25442749	25442749	+	RNA	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:25442749T>C	ENST00000424208.1	+	0	1636				SNHG14_ENST00000456576.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCTTATATGTTCTGAAGAGAG	0.498																																						ENST00000424208.1																			0																				449.0	448.0	449.0					15																	25442749		876	1991	2867			104472715							g.chr15:25442749T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25442749T>C						SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA		NR_003305.1						0	1636	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.498	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			17	645	0	0	0	1	0	17	645				
LAMA1	284217	broad.mit.edu	37	18	7012055	7012055	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:7012055G>C	ENST00000389658.3	-	24	3539	c.3446C>G	c.(3445-3447)cCg>cGg	p.P1149R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1149	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCAGAAGCACGGGCTGCAGCC	0.577																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3445-3447)cCg>cGg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						37.0	33.0	35.0					18																	7012055		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7012055G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3446C>G	18.37:g.7012055G>C	ENSP00000374309:p.Pro1149Arg						p.P1149R	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			24	3539	-		Colorectal(10;0.172)	1149			Laminin EGF-like 13.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3446C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424882	0.25639	.	.	ENSG00000101680	ENST00000389658	T	0.16897	2.31	5.63	3.77	0.43336	EGF-like, laminin (2);	0.072607	0.56097	D	0.000031	T	0.21921	0.0528	L	0.56124	1.755	0.18873	N	0.999984	D	0.53885	0.963	P	0.46940	0.532	T	0.08722	-1.0708	10	0.25106	T	0.35	.	14.5796	0.68278	0.0:0.0:0.7329:0.2671	.	1149	P25391	LAMA1_HUMAN	R	1149	ENSP00000374309:P1149R	ENSP00000374309:P1149R	P	-	2	0	LAMA1	7002055	1.000000	0.71417	0.002000	0.10522	0.288000	0.27193	3.113000	0.50376	0.663000	0.31027	0.637000	0.83480	CCG		0.577	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		16	36	0	0	0	1	0	16	36				
PDZD2	23037	broad.mit.edu	37	5	32074069	32074069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:32074069C>T	ENST00000438447.1	+	18	3245	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R953*			O15018	PDZD2_HUMAN	PDZ domain containing 2	953					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACAGGCCCTCCGAAACCCTCT	0.592																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2857-2859)Cga>Tga		PDZ domain containing 2							56.0	61.0	60.0					5																	32074069		2203	4300	6503	SO:0001587	stop_gained	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074069C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2857C>T	5.37:g.32074069C>T	ENSP00000402033:p.Arg953*					PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R953*	p.R953*			O15018	PDZD2_HUMAN			18	3245	+			953					Q9BXD4	Nonsense_Mutation	SNP	ENST00000438447.1	37	c.2857C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	44	11.157591	0.99524	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.78	4.87	0.63330	.	0.000000	0.44285	D	0.000479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6852	0.56944	0.2:0.8:0.0:0.0	.	.	.	.	X	953;755;953	.	ENSP00000282493:R953X	R	+	1	2	PDZD2	32109826	1.000000	0.71417	0.979000	0.43373	0.968000	0.65278	3.834000	0.55798	1.339000	0.45563	0.563000	0.77884	CGA		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			35	106	0	0	0	1	0	35	106				
CCL16	6360	broad.mit.edu	37	17	34308390	34308390	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:34308390T>A	ENST00000293275.3	-	1	142	c.67A>T	c.(67-69)Agc>Tgc	p.S23C		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	23					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGGCTGGCTGCGAGAAGCC	0.587																																						ENST00000293275.3																			0				endometrium(1)|lung(2)	3						c.(67-69)Agc>Tgc		chemokine (C-C motif) ligand 16							58.0	44.0	49.0					17																	34308390		2203	4300	6503	SO:0001583	missense	6360				cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity	g.chr17:34308390T>A	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"""Chemokine ligands"", ""Endogenous ligands"""	10614	protein-coding gene	gene with protein product		601394	"""small inducible cytokine subfamily A (Cys-Cys), member 16"""	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.67A>T	17.37:g.34308390T>A	ENSP00000293275:p.Ser23Cys						p.S23C	NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	142	-		Ovarian(249;0.17)	23					Q4KKU0	Missense_Mutation	SNP	ENST00000293275.3	37	c.67A>T	CCDS11303.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442586	0.43326	.	.	ENSG00000161573	ENST00000293275	T	0.03242	4.0	3.88	-1.7	0.08159	.	12.652200	0.00397	N	0.000057	T	0.05318	0.0141	L	0.60067	1.865	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.43956	-0.9359	10	0.72032	D	0.01	.	2.3754	0.04340	0.3689:0.2421:0.0:0.3891	.	23	O15467	CCL16_HUMAN	C	23	ENSP00000293275:S23C	ENSP00000293275:S23C	S	-	1	0	CCL16	31332503	0.000000	0.05858	0.001000	0.08648	0.462000	0.32619	-0.801000	0.04550	-0.475000	0.06852	0.379000	0.24179	AGC		0.587	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	NM_004590		11	18	0	0	0	1	0	11	18				
ARHGAP11A	9824	broad.mit.edu	37	15	32929543	32929543	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:32929543G>C	ENST00000361627.3	+	12	3291	c.2569G>C	c.(2569-2571)Ggg>Cgg	p.G857R	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.G668R|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.G668R	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	857					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACAACCTACAGGGCATAAGTT	0.423																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2569-2571)Ggg>Cgg		Rho GTPase activating protein 11A							135.0	144.0	141.0					15																	32929543		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929543G>C	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2569G>C	15.37:g.32929543G>C	ENSP00000355090:p.Gly857Arg					ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.G668R|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.G668R	p.G857R	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	3291	+		all_lung(180;1.3e-11)	857					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2569G>C	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.645344	0.00111	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.07327	3.2	5.67	0.388	0.16264	.	0.453124	0.22685	N	0.056887	T	0.01287	0.0042	N	0.00060	-2.34	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47368	-0.9123	10	0.24483	T	0.36	.	5.6161	0.17432	0.5864:0.2707:0.1429:0.0	.	857	Q6P4F7	RHGBA_HUMAN	R	857;668	ENSP00000355090:G857R	ENSP00000355090:G857R	G	+	1	0	ARHGAP11A	30716835	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.985000	0.29578	0.062000	0.16340	-0.423000	0.05987	GGG		0.423	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		47	122	0	0	0	1	0	47	122				
PSD3	23362	broad.mit.edu	37	8	18393461	18393461	+	Missense_Mutation	SNP	C	C	A	rs148881242		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:18393461C>A	ENST00000327040.8	-	16	3038	c.2936G>T	c.(2935-2937)cGc>cTc	p.R979L	PSD3_ENST00000286485.8_Missense_Mutation_p.R445L|PSD3_ENST00000428502.2_Missense_Mutation_p.R308L|PSD3_ENST00000523619.1_Missense_Mutation_p.R914L|PSD3_ENST00000440756.2_Missense_Mutation_p.R981L	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	980					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CATTTCATAGCGGGTTTTCTG	0.478																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2941-2943)cGc>cTc		pleckstrin and Sec7 domain containing 3							80.0	72.0	75.0					8																	18393461		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18393461C>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2936G>T	8.37:g.18393461C>A	ENSP00000324127:p.Arg979Leu					PSD3_ENST00000286485.8_Missense_Mutation_p.R445L|PSD3_ENST00000523619.1_Missense_Mutation_p.R914L|PSD3_ENST00000327040.8_Missense_Mutation_p.R979L|PSD3_ENST00000428502.2_Missense_Mutation_p.R308L	p.R981L			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	16	3044	-			980					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2942G>T	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734444	0.69189	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.33438	2.09;2.09;1.41;2.09	5.8	5.8	0.92144	.	0.000000	0.39759	U	0.001273	T	0.61022	0.2314	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.994	D;D;D;P	0.91635	0.996;0.998;0.999;0.889	T	0.64935	-0.6290	10	0.87932	D	0	.	17.5408	0.87846	0.0:1.0:0.0:0.0	.	979;980;445;308	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	L	979;981;201;445;308;914	ENSP00000324127:R979L;ENSP00000401704:R981L;ENSP00000286485:R445L;ENSP00000430640:R914L	ENSP00000286485:R445L	R	-	2	0	PSD3	18437741	1.000000	0.71417	0.979000	0.43373	0.362000	0.29581	6.195000	0.72088	2.733000	0.93635	0.655000	0.94253	CGC		0.478	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		32	67	1	0	2.81731e-10	1	3.13149e-10	32	67				
COG5	10466	broad.mit.edu	37	7	106964929	106964929	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:106964929G>A	ENST00000347053.3	-	11	1207	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	COG5_ENST00000393603.2_Missense_Mutation_p.S386L|COG5_ENST00000297135.3_Missense_Mutation_p.S386L	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	386					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTGAGTAACTGAATTCCAAAA	0.244																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(1156-1158)tCa>tTa		component of oligomeric golgi complex 5							51.0	59.0	56.0					7																	106964929		2203	4289	6492	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106964929G>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1157C>T	7.37:g.106964929G>A	ENSP00000334703:p.Ser386Leu					COG5_ENST00000297135.3_Missense_Mutation_p.S386L|COG5_ENST00000347053.3_Missense_Mutation_p.S386L	p.S386L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			11	1428	-			386					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.1157C>T	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310415	0.40895	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.57595	0.39;0.39;0.39	4.71	3.82	0.43975	.	0.728913	0.13126	N	0.411811	T	0.46502	0.1396	L	0.50333	1.59	0.32459	N	0.544307	B;B	0.24368	0.049;0.102	B;B	0.20577	0.006;0.03	T	0.51896	-0.8647	10	0.33141	T	0.24	-3.4307	12.5284	0.56100	0.0874:0.0:0.9126:0.0	.	386;386	Q9UP83;Q9UP83-2	COG5_HUMAN;.	L	386	ENSP00000334703:S386L;ENSP00000297135:S386L;ENSP00000377228:S386L	ENSP00000297135:S386L	S	-	2	0	COG5	106752165	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.640000	0.61368	2.598000	0.87819	0.650000	0.86243	TCA		0.244	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			16	89	0	0	0	1	0	16	89				
SPATA31C1	441452	broad.mit.edu	37	9	90535348	90535348	+	RNA	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:90535348G>A	ENST00000602681.1	+	0	1252							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCATCCTCAGGATCTGGCCTC	0.602																																						ENST00000602681.1																			0																				33.0	39.0	37.0					9																	90535348		692	1590	2282			441452							g.chr9:90535348G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535348G>A														0	1252	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.602	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		90	204	0	0	0	1	0	90	204				
SPATA31C1	441452	broad.mit.edu	37	9	90536009	90536009	+	RNA	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:90536009C>T	ENST00000602681.1	+	0	1913							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAGCTCTCTCCTTACCTGAA	0.483																																						ENST00000602681.1																			0																				29.0	23.0	25.0					9																	90536009		692	1591	2283			441452							g.chr9:90536009C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536009C>T														0	1913	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.483	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		84	325	0	0	0	1	0	84	325				
FRYL	285527	broad.mit.edu	37	4	48559548	48559548	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:48559548G>A	ENST00000503238.1	-	31	4046	c.4047C>T	c.(4045-4047)cgC>cgT	p.R1349R	FRYL_ENST00000507711.1_Silent_p.R1349R|FRYL_ENST00000537810.1_Silent_p.R1349R|FRYL_ENST00000358350.4_Silent_p.R1349R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCCGTAACCAGCGCCTACTAG	0.438																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4045-4047)cgC>cgT		FRY-like							164.0	162.0	163.0					4																	48559548		1939	4134	6073	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48559548G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4047C>T	4.37:g.48559548G>A						FRYL_ENST00000537810.1_Silent_p.R1349R|FRYL_ENST00000507711.1_Silent_p.R1349R|FRYL_ENST00000503238.1_Silent_p.R1349R|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR	p.R1349R	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			34	4651	-			1349					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.4047C>T	CCDS43227.1																																																																																				0.438	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			48	137	0	0	0	1	0	48	137				
CDH6	1004	broad.mit.edu	37	5	31317853	31317853	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:31317853G>T	ENST00000265071.2	+	11	1969	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	CDH6_ENST00000514738.1_Silent_p.V513V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	568	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTTGCCTGTGGTCATTTCAG	0.502																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1702-1704)gtG>gtT		cadherin 6, type 2, K-cadherin (fetal kidney)							92.0	79.0	83.0					5																	31317853		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317853G>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1704G>T	5.37:g.31317853G>T						CDH6_ENST00000514738.1_Silent_p.V513V	p.V568V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			11	1969	+			568			Cadherin 5.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.1704G>T	CCDS3894.1																																																																																				0.502	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		29	107	1	0	1.5548e-18	1	1.86822e-18	29	107				
CARD6	84674	broad.mit.edu	37	5	40853910	40853910	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:40853910G>T	ENST00000254691.5	+	3	2675	c.2476G>T	c.(2476-2478)Gta>Tta	p.V826L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	826					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTGTCAGCATGTACAGGCCTG	0.473																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2476-2478)Gta>Tta		caspase recruitment domain family, member 6							239.0	248.0	245.0					5																	40853910		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853910G>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2476G>T	5.37:g.40853910G>T	ENSP00000254691:p.Val826Leu					CARD6_ENST00000381677.3_Intron	p.V826L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2675	+			826					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2476G>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992645	0.35131	.	.	ENSG00000132357	ENST00000254691	T	0.15834	2.39	4.93	2.15	0.27550	.	1.037240	0.07660	N	0.933420	T	0.13030	0.0316	L	0.27053	0.805	0.09310	N	0.999998	B	0.25667	0.131	B	0.21546	0.035	T	0.30995	-0.9959	10	0.46703	T	0.11	-0.2325	8.5873	0.33666	0.2634:0.0:0.7366:0.0	.	826	Q9BX69	CARD6_HUMAN	L	826	ENSP00000254691:V826L	ENSP00000254691:V826L	V	+	1	0	CARD6	40889667	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.626000	0.24492	0.686000	0.31488	0.462000	0.41574	GTA		0.473	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			140	496	1	0	2.87455e-64	1	3.75048e-64	140	496				
OR2F2	135948	broad.mit.edu	37	7	143633082	143633082	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:143633082G>T	ENST00000408955.2	+	1	824	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCTGTGCTACGGCACAACGAT	0.512																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(757-759)Ggc>Tgc		olfactory receptor, family 2, subfamily F, member 2							123.0	118.0	119.0					7																	143633082		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143633082G>T		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.757G>T	7.37:g.143633082G>T	ENSP00000386222:p.Gly253Cys						p.G253C	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	824	+	Melanoma(164;0.0903)		253					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.757G>T	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	G	9.099	1.003781	0.19199	.	.	ENSG00000221910	ENST00000408955	T	0.38722	1.12	3.61	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000104	T	0.63438	0.2511	M	0.84846	2.72	0.09310	N	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.54846	-0.8232	10	0.87932	D	0	-24.7148	8.9933	0.36037	0.1128:0.0:0.8872:0.0	.	253	O95006	OR2F2_HUMAN	C	253	ENSP00000386222:G253C	ENSP00000386222:G253C	G	+	1	0	OR2F2	143264015	0.513000	0.26194	0.073000	0.20177	0.033000	0.12548	1.215000	0.32431	0.849000	0.35215	0.491000	0.48974	GGC		0.512	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			46	74	1	0	1.61004e-24	1	2.02671e-24	46	74				
TBC1D22A	25771	broad.mit.edu	37	22	47309249	47309249	+	Intron	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:47309249G>T	ENST00000337137.4	+	8	1181				TBC1D22A_ENST00000380995.1_Silent_p.R298R|TBC1D22A_ENST00000406733.1_Intron|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A								protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GTTGTGGTCGGCCTCAGATTC	0.453																																						ENST00000380995.1																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(892-894)cgG>cgT		TBC1 domain family, member 22A							57.0	50.0	52.0					22																	47309249		876	1991	2867	SO:0001627	intron_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47309249G>T	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1015+1165G>T	22.37:g.47309249G>T						TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_Intron|TBC1D22A_ENST00000337137.4_Intron|TBC1D22A_ENST00000407381.3_Intron	p.R298R			Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	9	1190	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	0			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Silent	SNP	ENST00000337137.4	37	c.894G>T	CCDS14078.1																																																																																				0.453	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		6	26	1	0	0.248553	1	0.249373	6	26				
GALNT9	50614	broad.mit.edu	37	12	132681769	132681769	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:132681769G>T	ENST00000328957.8	-	11	1694	c.1695C>A	c.(1693-1695)ggC>ggA	p.G565G	GALNT9_ENST00000535228.1_Silent_p.G316G|GALNT9_ENST00000397325.2_Silent_p.G199G|GALNT9_ENST00000541995.1_Silent_p.G199G	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	565	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCAGGCAGCGGCCCGTGGCCC	0.627																																					Colon(186;2147 2752 13553 41466)	ENST00000328957.8																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(1693-1695)ggC>ggA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)							48.0	57.0	54.0					12																	132681769		2068	4202	6270	SO:0001819	synonymous_variant	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132681769G>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1695C>A	12.37:g.132681769G>T						GALNT9_ENST00000535228.1_Silent_p.G316G|GALNT9_ENST00000397325.2_Silent_p.G199G|GALNT9_ENST00000541995.1_Silent_p.G199G	p.G565G	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	11	1694	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	565			Ricin B-type lectin.		Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	ENST00000328957.8	37	c.1695C>A		.	.	.	.	.	.	.	.	.	.	g	9.112	1.006900	0.19199	.	.	ENSG00000182870	ENST00000411988	.	.	.	4.45	1.07	0.20283	.	.	.	.	.	T	0.42765	0.1217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25606	-1.0127	4	.	.	.	.	1.6273	0.02725	0.2853:0.1178:0.4283:0.1686	.	.	.	.	T	338	.	.	P	-	1	0	GALNT9	131247722	0.983000	0.35010	0.997000	0.53966	0.906000	0.53458	0.216000	0.17585	0.293000	0.22520	0.457000	0.33378	CCG		0.627	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		28	37	1	0	2.61193e-14	1	3.02487e-14	28	37				
GRM7	2917	broad.mit.edu	37	3	6903290	6903290	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:6903290G>C	ENST00000357716.4	+	1	489	c.215G>C	c.(214-216)aGg>aCg	p.R72T	GRM7_ENST00000389336.4_Missense_Mutation_p.R72T|GRM7_ENST00000402647.2_Missense_Mutation_p.R72T|GRM7_ENST00000486284.1_Missense_Mutation_p.R72T|GRM7_ENST00000403881.1_Missense_Mutation_p.R72T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	72					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GACATCAAGAGGGAAAACGGG	0.657																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(214-216)aGg>aCg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						29.0	27.0	28.0					3																	6903290		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903290G>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.215G>C	3.37:g.6903290G>C	ENSP00000350348:p.Arg72Thr					GRM7_ENST00000357716.4_Missense_Mutation_p.R72T|GRM7_ENST00000403881.1_Missense_Mutation_p.R72T|GRM7_ENST00000402647.2_Missense_Mutation_p.R72T|GRM7_ENST00000389336.4_Missense_Mutation_p.R72T	p.R72T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	489	+			72					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.215G>C	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311120	0.40895	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.39	4.4	0.53042	.	0.063176	0.64402	D	0.000017	T	0.45776	0.1359	N	0.08118	0	0.38939	D	0.958119	B;B;B	0.18741	0.027;0.016;0.03	B;B;B	0.28011	0.014;0.006;0.085	T	0.43605	-0.9381	10	0.22109	T	0.4	.	4.231	0.10602	0.2985:0.0:0.7015:0.0	.	72;72;72	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	T	72	ENSP00000350348:R72T;ENSP00000417536:R72T;ENSP00000373987:R72T;ENSP00000385664:R72T;ENSP00000384585:R72T	ENSP00000350348:R72T	R	+	2	0	GRM7	6878290	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.552000	0.60747	2.508000	0.84585	0.563000	0.77884	AGG		0.657	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		5	13	0	0	0	1	0	5	13				
PIK3R4	30849	broad.mit.edu	37	3	130427223	130427223	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:130427223C>T	ENST00000356763.3	-	10	3002	c.2445G>A	c.(2443-2445)caG>caA	p.Q815Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	815					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTACACCTTTCTGACTACTAT	0.398																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2443-2445)caG>caA		phosphoinositide-3-kinase, regulatory subunit 4							232.0	206.0	215.0					3																	130427223		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130427223C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2445G>A	3.37:g.130427223C>T							p.Q815Q	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			10	3002	-			815					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.2445G>A	CCDS3067.1																																																																																				0.398	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		103	161	0	0	0	1	0	103	161				
ZCCHC11	23318	broad.mit.edu	37	1	52941095	52941095	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:52941095C>A	ENST00000371544.3	-	13	2398	c.2136G>T	c.(2134-2136)acG>acT	p.T712T	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.T712T	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	712					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTCCACCCTTCGTCTGAGGAC	0.423																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2134-2136)acG>acT		zinc finger, CCHC domain containing 11							92.0	94.0	93.0					1																	52941095		2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52941095C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2136G>T	1.37:g.52941095C>A						ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.T712T	p.T712T	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			13	2398	-			712					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.2136G>T	CCDS30716.1																																																																																				0.423	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		33	94	1	0	3.80469e-20	1	4.67324e-20	33	94				
PSMD4	5710	broad.mit.edu	37	1	151237331	151237331	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:151237331C>T	ENST00000368884.3	+	4	386	c.306C>T	c.(304-306)ggC>ggT	p.G102G	PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Silent_p.G102G	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	102	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCGACAAGGCAAGAATCACA	0.522																																						ENST00000368884.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(304-306)ggC>ggT		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4							70.0	60.0	63.0					1																	151237331		2203	4300	6503	SO:0001819	synonymous_variant	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151237331C>T	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.306C>T	1.37:g.151237331C>T						PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Silent_p.G102G	p.G102G	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	386	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		102			VWFA.		D3DV16|Q5VWC5|Q9NS92	Silent	SNP	ENST00000368884.3	37	c.306C>T	CCDS991.1																																																																																				0.522	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		6	34	0	0	0	1	0	6	34				
FAT1	2195	broad.mit.edu	37	4	187629000	187629000	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:187629000A>C	ENST00000441802.2	-	2	2191	c.1982T>G	c.(1981-1983)aTa>aGa	p.I661R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	661	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCCACTGTTATGTTGATATA	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1981-1983)aTa>aGa		FAT atypical cadherin 1							55.0	54.0	54.0					4																	187629000		1886	4123	6009	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629000A>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1982T>G	4.37:g.187629000A>C	ENSP00000406229:p.Ile661Arg	HNSCC(5;0.00058)					p.I661R	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	2191	-			661			Cadherin 5.			Missense_Mutation	SNP	ENST00000441802.2	37	c.1982T>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.348841	0.41599	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54479	0.57	5.4	5.4	0.78164	Cadherin (3);Cadherin-like (1);	0.439888	0.24748	N	0.035925	T	0.64516	0.2605	M	0.89904	3.07	0.80722	D	1	P	0.36354	0.549	B	0.38106	0.265	T	0.72600	-0.4244	10	0.87932	D	0	.	15.5918	0.76537	1.0:0.0:0.0:0.0	.	661	Q14517	FAT1_HUMAN	R	661	ENSP00000406229:I661R	ENSP00000260147:I661R	I	-	2	0	FAT1	187865994	1.000000	0.71417	0.096000	0.21009	0.084000	0.17831	9.139000	0.94554	2.263000	0.75096	0.533000	0.62120	ATA		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		20	59	0	0	0	1	0	20	59				
CDH9	1007	broad.mit.edu	37	5	26881501	26881501	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:26881501G>A	ENST00000231021.4	-	12	2286	c.2114C>T	c.(2113-2115)cCt>cTt	p.P705L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	705					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCCACAGAGGCACAGTCCT	0.408																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(2113-2115)cCt>cTt		cadherin 9, type 2 (T1-cadherin)							170.0	160.0	164.0					5																	26881501		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881501G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2114C>T	5.37:g.26881501G>A	ENSP00000231021:p.Pro705Leu						p.P705L	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2286	-			705					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2114C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183959	0.57800	.	.	ENSG00000113100	ENST00000231021	T	0.78003	-1.14	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.049059	0.85682	D	0.000000	T	0.78855	0.4349	M	0.65498	2.005	0.80722	D	1	B;B	0.33299	0.407;0.407	B;B	0.38921	0.285;0.209	T	0.77016	-0.2744	9	.	.	.	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	298;705	B4DFP0;Q9ULB4	.;CADH9_HUMAN	L	705	ENSP00000231021:P705L	.	P	-	2	0	CDH9	26917258	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.542000	0.82095	2.447000	0.82792	0.557000	0.71058	CCT		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		20	210	0	0	0	1	0	20	210				
NDNF	79625	broad.mit.edu	37	4	121957441	121957441	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:121957441A>G	ENST00000379692.4	-	4	2211	c.1685T>C	c.(1684-1686)gTg>gCg	p.V562A	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	562	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCTAGTTTTCACAACCTTACT	0.378																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1684-1686)gTg>gCg		neuron-derived neurotrophic factor							109.0	118.0	115.0					4																	121957441		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121957441A>G	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1685T>C	4.37:g.121957441A>G	ENSP00000369014:p.Val562Ala						p.V562A	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	2211	-			562			Fibronectin type-III 2.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1685T>C	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010791	0.75046	.	.	ENSG00000173376	ENST00000379692	T	0.55413	0.52	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75246	-0.3385	10	0.87932	D	0	-24.7804	16.5582	0.84512	1.0:0.0:0.0:0.0	.	562	Q8TB73	NDNF_HUMAN	A	562	ENSP00000369014:V562A	ENSP00000369014:V562A	V	-	2	0	NDNF	122176891	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	GTG		0.378	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		61	154	0	0	0	1	0	61	154				
SPTLC3	55304	broad.mit.edu	37	20	13071769	13071769	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:13071769G>C	ENST00000399002.2	+	5	920	c.646G>C	c.(646-648)Gct>Cct	p.A216P	SPTLC3_ENST00000378194.4_Missense_Mutation_p.A216P	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	216					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GGACCTTGTGGCTAAGTTCCT	0.423																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(646-648)Gct>Cct		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						165.0	167.0	166.0					20																	13071769		1931	4125	6056	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13071769G>C	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.646G>C	20.37:g.13071769G>C	ENSP00000381968:p.Ala216Pro					SPTLC3_ENST00000378194.4_Missense_Mutation_p.A216P	p.A216P	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			5	920	+			216					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.646G>C	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	32	5.162350	0.94727	.	.	ENSG00000172296	ENST00000399002;ENST00000378194	D;D	0.94537	-3.45;-3.45	5.44	5.44	0.79542	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.106321	0.64402	D	0.000005	D	0.98698	0.9563	H	0.99487	4.59	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	D	0.99616	1.0982	10	0.87932	D	0	-16.4451	18.101	0.89505	0.0:0.0:1.0:0.0	.	216	Q9NUV7	SPTC3_HUMAN	P	216	ENSP00000381968:A216P;ENSP00000367436:A216P	ENSP00000367436:A216P	A	+	1	0	SPTLC3	13019769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.558000	0.86282	0.644000	0.83932	GCT		0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		55	138	0	0	0	1	0	55	138				
ABL1	25	broad.mit.edu	37	9	133760374	133760374	+	Silent	SNP	G	G	A	rs367911374		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:133760374G>A	ENST00000318560.5	+	11	3078	c.2697G>A	c.(2695-2697)ccG>ccA	p.P899P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	899	DNA-binding. {ECO:0000250}.|Poly-Pro.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AACCTGCCCCGCCGCCCCCAC	0.677			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(2695-2697)ccG>ccA		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	G	,	1,4341		0,1,2170	8.0	11.0	10.0		2697,2754	-3.2	1.0	9		10	0,8518		0,0,4259	no	coding-synonymous,coding-synonymous	ABL1	NM_005157.4,NM_007313.2	,	0,1,6429	AA,AG,GG		0.0,0.023,0.0078	,	899/1131,918/1150	133760374	1,12859	2171	4259	6430	SO:0001819	synonymous_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760374G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2697G>A	9.37:g.133760374G>A							p.P899P	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3078	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	899			DNA-binding (By similarity).|Poly-Pro.|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	c.2697G>A	CCDS35166.1																																																																																				0.677	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		6	15	0	0	0	1	0	6	15				
PNLIPRP2	5408	broad.mit.edu	37	10	118386421	118386421	+	RNA	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:118386421G>A	ENST00000298771.7	+	0	402				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGGACTGGAGGCACGGGTCC	0.502																																						ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							80.0	76.0	77.0					10																	118386421		1961	4206	6167			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118386421G>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118386421G>A						PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	403	+								A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37			.	.	.	.	.	.	.	.	.	.	G	13.36	2.214670	0.39102	.	.	ENSG00000165862	ENST00000537242	D	0.92965	-3.14	5.56	-5.8	0.02347	Lipase, N-terminal (1);	0.907847	0.09297	N	0.821533	T	0.75369	0.3840	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.68062	-0.5508	9	0.05351	T	0.99	.	6.6118	0.22755	0.4992:0.0:0.31:0.1908	.	126	P54317	LIPR2_HUMAN	K	126	ENSP00000446346:R126K	ENSP00000446346:R126K	R	+	2	0	PNLIPRP2	118376411	0.000000	0.05858	0.001000	0.08648	0.266000	0.26442	-2.169000	0.01269	-1.206000	0.02641	0.561000	0.74099	AGG		0.502	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		6	29	0	0	0	1	0	6	29				
HK3	3101	broad.mit.edu	37	5	176308809	176308809	+	Silent	SNP	G	G	A	rs369639684		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:176308809G>A	ENST00000292432.5	-	17	2368	c.2277C>T	c.(2275-2277)atC>atT	p.I759I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	759	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGGCGGACGATCTCCCCCA	0.567																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2275-2277)atC>atT		hexokinase 3 (white cell)		G		1,4405	2.1+/-5.4	0,1,2202	111.0	114.0	113.0		2277	-7.0	0.7	5		113	0,8600		0,0,4300	no	coding-synonymous	HK3	NM_002115.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		759/924	176308809	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308809G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2277C>T	5.37:g.176308809G>A							p.I759I	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	2368	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	759			Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.2277C>T	CCDS4407.1																																																																																				0.567	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			32	52	0	0	0	1	0	32	52				
CA2	760	broad.mit.edu	37	8	86388068	86388068	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:86388068G>A	ENST00000285379.5	+	5	716	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	162					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTGTTGATGTGCTGGATTCCA	0.373																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(484-486)gtG>gtA		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						112.0	101.0	105.0					8																	86388068		2203	4300	6503	SO:0001819	synonymous_variant	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86388068G>A	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.486G>A	8.37:g.86388068G>A							p.V162V	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			5	716	+			162					B2R7G8|Q6FI12|Q96ET9	Silent	SNP	ENST00000285379.5	37	c.486G>A	CCDS6239.1																																																																																				0.373	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		21	54	0	0	0	1	0	21	54				
SOX14	8403	broad.mit.edu	37	3	137484192	137484192	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:137484192C>T	ENST00000306087.1	+	1	614	c.566C>T	c.(565-567)aCg>aTg	p.T189M		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	189					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CACACGCACACGCACCCGTCC	0.687																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(565-567)aCg>aTg		SRY (sex determining region Y)-box 14							23.0	17.0	19.0					3																	137484192		2198	4295	6493	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484192C>T	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.566C>T	3.37:g.137484192C>T	ENSP00000305343:p.Thr189Met						p.T189M	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	614	+			189					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.566C>T	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493976	0.44352	.	.	ENSG00000168875	ENST00000306087	D	0.96265	-3.96	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	L	0.43152	1.355	0.58432	D	0.999998	P	0.38992	0.653	B	0.31337	0.128	D	0.94274	0.7513	10	0.72032	D	0.01	.	17.8201	0.88648	0.0:1.0:0.0:0.0	.	189	O95416	SOX14_HUMAN	M	189	ENSP00000305343:T189M	ENSP00000305343:T189M	T	+	2	0	SOX14	138966882	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	5.864000	0.69575	2.449000	0.82847	0.511000	0.50034	ACG		0.687	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		4	12	0	0	0	1	0	4	12				
SH2D3C	10044	broad.mit.edu	37	9	130504178	130504178	+	Missense_Mutation	SNP	C	C	A	rs368258497		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:130504178C>A	ENST00000314830.8	-	9	2090	c.1977G>T	c.(1975-1977)gaG>gaT	p.E659D	SH2D3C_ENST00000373276.3_Missense_Mutation_p.E591D|SH2D3C_ENST00000420366.1_Missense_Mutation_p.E501D|SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000373274.3_Missense_Mutation_p.E499D|SH2D3C_ENST00000429553.1_Missense_Mutation_p.E305D|SH2D3C_ENST00000373277.4_Missense_Mutation_p.E502D	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	659	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCCCGCTCCTCCGCAGAGC	0.682																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1975-1977)gaG>gaT		SH2 domain containing 3C							30.0	27.0	28.0					9																	130504178		2201	4298	6499	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130504178C>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1977G>T	9.37:g.130504178C>A	ENSP00000317817:p.Glu659Asp					SH2D3C_ENST00000429553.1_Missense_Mutation_p.E305D|SH2D3C_ENST00000373274.3_Missense_Mutation_p.E499D|SH2D3C_ENST00000373277.4_Missense_Mutation_p.E502D|SH2D3C_ENST00000373276.3_Missense_Mutation_p.E591D|SH2D3C_ENST00000420366.1_Missense_Mutation_p.E501D	p.E659D	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			9	2090	-			659			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1977G>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677984	0.68042	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.32272	1.53;1.46;1.53;1.81;1.62;1.46	5.93	5.03	0.67393	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.104227	0.64402	D	0.000001	T	0.28928	0.0718	L	0.42487	1.325	0.80722	D	1	P;P;B;B;P	0.41624	0.627;0.757;0.003;0.001;0.513	B;B;B;B;B	0.40038	0.169;0.317;0.025;0.006;0.078	T	0.03315	-1.1049	10	0.40728	T	0.16	-30.7845	13.8465	0.63470	0.0:0.9261:0.0:0.0739	.	499;659;591;502;501	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	D	502;501;591;499;305;659	ENSP00000362374:E502D;ENSP00000388536:E501D;ENSP00000362373:E591D;ENSP00000362371:E499D;ENSP00000394632:E305D;ENSP00000317817:E659D	ENSP00000317817:E659D	E	-	3	2	SH2D3C	129543999	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.762000	0.55250	1.517000	0.48917	0.563000	0.77884	GAG		0.682	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		16	29	1	0	1.3612e-06	1	1.45195e-06	16	29				
CCSER1	401145	broad.mit.edu	37	4	91229927	91229927	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:91229927C>T	ENST00000509176.1	+	2	780	c.492C>T	c.(490-492)ttC>ttT	p.F164F	CCSER1_ENST00000432775.2_Silent_p.F164F|CCSER1_ENST00000333691.8_Silent_p.F164F	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	164																	ATTCTGGTTTCACAGAAGACC	0.373																																						ENST00000509176.1																			0											c.(490-492)ttC>ttT		coiled-coil serine-rich protein 1							54.0	52.0	53.0					4																	91229927		1840	4093	5933	SO:0001819	synonymous_variant	401145							g.chr4:91229927C>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.492C>T	4.37:g.91229927C>T						CCSER1_ENST00000333691.8_Silent_p.F164F|CCSER1_ENST00000432775.2_Silent_p.F164F	p.F164F	NM_001145065.1	NP_001138537.1					2	780	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.492C>T	CCDS47099.1																																																																																				0.373	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		16	45	0	0	0	1	0	16	45				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240644	39240644	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39240644C>A	ENST00000391417.4	+	1	186	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	62	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GCTGCCAACCCACCTGCTGTC	0.647																																						ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(184-186)ccC>ccA		keratin associated protein 4-7							19.0	30.0	27.0					17																	39240644		691	1591	2282	SO:0001819	synonymous_variant	100132476							g.chr17:39240644C>A	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.186C>A	17.37:g.39240644C>A							p.P62P	NM_033061.3	NP_149050.3					1	186	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.186C>A	CCDS45673.1																																																																																				0.647	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			18	81	1	0	6.33239e-15	1	7.36155e-15	18	81				
PSD3	23362	broad.mit.edu	37	8	18656828	18656828	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:18656828G>C	ENST00000327040.8	-	8	2161	c.2059C>G	c.(2059-2061)Ctt>Gtt	p.L687V	PSD3_ENST00000286485.8_Missense_Mutation_p.L153V|PSD3_ENST00000523619.1_Missense_Mutation_p.L622V|PSD3_ENST00000440756.2_Missense_Mutation_p.L687V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	687	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCGGTATTAAGAAGCATTATT	0.363																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2059-2061)Ctt>Gtt		pleckstrin and Sec7 domain containing 3							132.0	121.0	125.0					8																	18656828		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18656828G>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2059C>G	8.37:g.18656828G>C	ENSP00000324127:p.Leu687Val					PSD3_ENST00000286485.8_Missense_Mutation_p.L153V|PSD3_ENST00000523619.1_Missense_Mutation_p.L622V|PSD3_ENST00000327040.8_Missense_Mutation_p.L687V	p.L687V			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	8	2161	-			687			SEC7.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2059C>G	CCDS43720.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.655799|4.655799	0.88056|0.88056	.|.	.|.	ENSG00000156011|ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000523619;ENST00000519851|ENST00000520858	T;T;T;T;T|.	0.81330|.	-1.48;-1.48;-1.48;-1.48;-1.48|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.069676|.	0.64402|.	D|.	0.000015|.	D|D	0.87541|0.87541	0.6203|0.6203	H|H	0.95679|0.95679	3.705|3.705	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.80764|.	0.994;0.976|.	D|D	0.90602|0.90602	0.4545|0.4545	10|5	0.87932|.	D|.	0|.	.|.	17.5599|17.5599	0.87903|0.87903	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	687;153|.	E9KL50;Q9NYI0-3|.	.;.|.	V|C	687;687;153;622;128|119	ENSP00000324127:L687V;ENSP00000401704:L687V;ENSP00000286485:L153V;ENSP00000430640:L622V;ENSP00000429069:L128V|.	ENSP00000286485:L153V|.	L|S	-|-	1|2	0|0	PSD3|PSD3	18701108|18701108	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.941000|0.941000	0.58515|0.58515	8.226000|8.226000	0.89785|0.89785	2.805000|2.805000	0.96524|0.96524	0.643000|0.643000	0.83706|0.83706	CTT|TCT		0.363	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		27	77	0	0	0	1	0	27	77				
TMEM200B	399474	broad.mit.edu	37	1	29447725	29447725	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:29447725G>C	ENST00000420504.2	-	2	773	c.616C>G	c.(616-618)Ctg>Gtg	p.L206V	TMEM200B_ENST00000521452.1_Missense_Mutation_p.L206V	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	206	Pro-rich.					integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TCTGAACGCAGACTCCGCACT	0.687																																						ENST00000420504.2																			0				ovary(1)	1						c.(616-618)Ctg>Gtg		transmembrane protein 200B							24.0	26.0	25.0					1																	29447725		2203	4300	6503	SO:0001583	missense	399474					integral to membrane		g.chr1:29447725G>C		CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.616C>G	1.37:g.29447725G>C	ENSP00000428544:p.Leu206Val					TMEM200B_ENST00000521452.1_Missense_Mutation_p.L206V	p.L206V	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)	2	773	-		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	206			Pro-rich.		Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	ENST00000420504.2	37	c.616C>G	CCDS30658.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388434	0.61956	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	3.84	2.89	0.33648	.	0.000000	0.34986	U	0.003537	T	0.12902	0.0313	N	0.14661	0.345	0.24394	N	0.994737	P	0.39480	0.675	B	0.26202	0.067	T	0.13202	-1.0518	9	0.46703	T	0.11	.	7.6754	0.28481	0.0923:0.0:0.7438:0.1639	.	206	Q69YZ2	T200B_HUMAN	V	206	.	ENSP00000428544:L206V	L	-	1	2	TMEM200B	29320312	0.080000	0.21391	0.998000	0.56505	0.992000	0.81027	1.734000	0.38166	0.897000	0.36392	0.655000	0.94253	CTG		0.687	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	NM_001003682		7	43	0	0	0	1	0	7	43				
GPATCH2	55105	broad.mit.edu	37	1	217793352	217793352	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:217793352G>A	ENST00000366935.3	-	2	656	c.546C>T	c.(544-546)acC>acT	p.T182T	GPATCH2_ENST00000366934.3_Silent_p.T182T	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	182					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CAGGTGGCTGGGTCATTGTCC	0.443																																						ENST00000366935.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.(544-546)acC>acT		G patch domain containing 2							224.0	206.0	212.0					1																	217793352		2203	4300	6503	SO:0001819	synonymous_variant	55105					intracellular	nucleic acid binding	g.chr1:217793352G>A	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.546C>T	1.37:g.217793352G>A						GPATCH2_ENST00000366934.3_Silent_p.T182T	p.T182T	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	2	656	-			182					Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	ENST00000366935.3	37	c.546C>T	CCDS1518.1																																																																																				0.443	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		45	163	0	0	0	1	0	45	163				
AKAP9	10142	broad.mit.edu	37	7	91682141	91682141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:91682141C>T	ENST00000359028.2	+	23	5731	c.5506C>T	c.(5506-5508)Cga>Tga	p.R1836*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R1836*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R1824*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1836					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGTCACAACGACTTGTGAG	0.403			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5506-5508)Cga>Tga		A kinase (PRKA) anchor protein 9							128.0	113.0	118.0					7																	91682141		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91682141C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5506C>T	7.37:g.91682141C>T	ENSP00000351922:p.Arg1836*					AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R1836*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R1824*	p.R1836*			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		23	5731	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1836					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.5506C>T		.	.	.	.	.	.	.	.	.	.	C	45	11.939362	0.99619	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	.	.	.	5.52	4.62	0.57501	.	0.000000	0.37483	N	0.002066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9053	0.18998	0.143:0.6465:0.138:0.0725	.	.	.	.	X	1824;1836;1836;1836	.	ENSP00000348573:R1824X	R	+	1	2	AKAP9	91520077	0.011000	0.17503	0.294000	0.24946	0.703000	0.40648	1.205000	0.32308	1.426000	0.47256	0.591000	0.81541	CGA		0.403	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		23	53	0	0	0	1	0	23	53				
PCDH15	65217	broad.mit.edu	37	10	55700686	55700686	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:55700686T>C	ENST00000320301.6	-	24	3566	c.3172A>G	c.(3172-3174)Att>Gtt	p.I1058V	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I987V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.I669V|PCDH15_ENST00000395438.1_Missense_Mutation_p.I1058V|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1058V|PCDH15_ENST00000414778.1_Missense_Mutation_p.I1063V|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1058V|PCDH15_ENST00000373965.2_Missense_Mutation_p.I1065V|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1021V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.I1065V|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1036V|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1058	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAGCAGAAATTACACCAACC	0.373										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3193-3195)Att>Gtt		protocadherin-related 15							98.0	95.0	96.0					10																	55700686		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55700686T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3172A>G	10.37:g.55700686T>C	ENSP00000322604:p.Ile1058Val	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.I1036V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.I1058V|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1058V|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1058V|PCDH15_ENST00000414778.1_Missense_Mutation_p.I1063V|PCDH15_ENST00000409834.1_Missense_Mutation_p.I669V|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1021V|PCDH15_ENST00000437009.1_Missense_Mutation_p.I987V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.I1058V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.I1065V	p.I1065V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			25	3587	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1058			Cadherin 10.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3193A>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	7.621	0.676779	0.14841	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.37	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.24928	0.0605	N	0.02391	-0.57	0.37964	D	0.933075	B;B;B;B;B;B;B;B;B;B;B;B;B	0.32781	0.094;0.181;0.094;0.033;0.384;0.094;0.053;0.005;0.181;0.181;0.006;0.008;0.181	B;B;B;B;P;B;B;B;B;B;B;B;B	0.44647	0.04;0.163;0.123;0.059;0.456;0.085;0.04;0.013;0.163;0.163;0.035;0.047;0.196	T	0.23762	-1.0179	9	0.31617	T	0.26	.	7.1391	0.25546	0.0:0.1765:0.0:0.8235	.	1036;1058;1058;1063;987;1021;1058;1058;1065;1065;1058;1063;1058	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	1065;1063;1058;1058;669;1065;1021;1058;1036;1058;1058;1063;987	ENSP00000363076:I1065V;ENSP00000410304:I1063V;ENSP00000378826:I1058V;ENSP00000386693:I669V;ENSP00000378832:I1065V;ENSP00000378820:I1021V;ENSP00000354950:I1058V;ENSP00000378821:I1036V;ENSP00000322604:I1058V;ENSP00000378818:I1058V;ENSP00000412628:I987V	ENSP00000322604:I1058V	I	-	1	0	PCDH15	55370692	0.994000	0.37717	0.786000	0.31890	0.096000	0.18686	2.581000	0.46077	0.975000	0.38392	0.477000	0.44152	ATT		0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		27	42	0	0	0	1	0	27	42				
SYNE1	23345	broad.mit.edu	37	6	152536121	152536121	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:152536121C>G	ENST00000367255.5	-	122	22867	c.22266G>C	c.(22264-22266)ttG>ttC	p.L7422F	SYNE1_ENST00000356820.4_Missense_Mutation_p.L1946F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7351F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7034F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7422F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7351F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7422					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTATCATTCAAGGGTAACC	0.393										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22264-22266)ttG>ttC		spectrin repeat containing, nuclear envelope 1							156.0	148.0	150.0					6																	152536121		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152536121C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22266G>C	6.37:g.152536121C>G	ENSP00000356224:p.Leu7422Phe	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.L7351F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7034F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1946F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7422F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7351F	p.L7422F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	122	22867	-		Ovarian(120;0.0955)	7422					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22266G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585580	0.66105	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.97	2.78	0.32641	.	0.000000	0.47455	D	0.000231	T	0.59183	0.2175	M	0.79926	2.475	0.47862	D	0.999539	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.993;0.989;0.993	T	0.64931	-0.6291	10	0.51188	T	0.08	.	13.1793	0.59645	0.0:0.7951:0.0:0.2049	.	7422;7422;7351;7351	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	F	7422;68;7351;7422;7351;7034;1946;344	ENSP00000356224:L7422F;ENSP00000356226:L68F;ENSP00000396024:L7351F;ENSP00000265368:L7422F;ENSP00000390975:L7351F;ENSP00000341887:L7034F;ENSP00000349276:L1946F;ENSP00000356220:L344F	ENSP00000265368:L7422F	L	-	3	2	SYNE1	152577814	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	0.906000	0.28517	0.843000	0.35070	0.650000	0.86243	TTG		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		37	151	0	0	0	1	0	37	151				
RGPD3	653489	broad.mit.edu	37	2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:107049632G>A	ENST00000409886.3	-	16	2402	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAA	0.373																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gCg>gTg		RANBP2-like and GRIP domain containing 3							90.0	75.0	80.0					2																	107049632		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049632G>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2315C>T	2.37:g.107049632G>A	ENSP00000386588:p.Ala772Val					RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2402	-			772					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2315C>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	3.284	-0.146450	0.06627	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23348	1.91;1.91	2.34	1.42	0.22433	.	.	.	.	.	T	0.19127	0.0459	L	0.47716	1.5	0.22947	N	0.998528	B	0.15141	0.012	B	0.06405	0.002	T	0.16778	-1.0391	9	0.37606	T	0.19	-0.1623	4.3139	0.10984	0.2042:0.0:0.7958:0.0	.	772	A6NKT7	RGPD3_HUMAN	V	772;530;772	ENSP00000386588:A772V;ENSP00000303659:A772V	ENSP00000303659:A772V	A	-	2	0	RGPD3	106416064	0.918000	0.31147	0.919000	0.36401	0.028000	0.11728	0.415000	0.21181	1.308000	0.44962	0.173000	0.16961	GCG		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		6	657	0	0	0	1	0	6	657				
SMC2	10592	broad.mit.edu	37	9	106900386	106900386	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:106900386G>T	ENST00000286398.7	+	24	3645	c.3357G>T	c.(3355-3357)ttG>ttT	p.L1119F	SMC2_ENST00000374793.3_Missense_Mutation_p.L1119F|SMC2_ENST00000374787.3_Missense_Mutation_p.L1119F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1119	Ala/Asp-rich (DA-box).				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATGCAGCCTTGGATCTTTCTC	0.388																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(3355-3357)ttG>ttT		structural maintenance of chromosomes 2							140.0	129.0	133.0					9																	106900386		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106900386G>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3357G>T	9.37:g.106900386G>T	ENSP00000286398:p.Leu1119Phe					SMC2_ENST00000374793.3_Missense_Mutation_p.L1119F|SMC2_ENST00000374787.3_Missense_Mutation_p.L1119F	p.L1119F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			24	3645	+			1119			Ala/Asp-rich (DA-box).		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.3357G>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673915	0.67928	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000374787	D;D;D	0.85339	-1.97;-1.97;-1.97	5.24	0.983	0.19767	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.92974	0.7764	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90284	0.4317	10	0.87932	D	0	-5.5989	5.9246	0.19101	0.2442:0.0:0.5938:0.1619	.	1119	O95347	SMC2_HUMAN	F	1119	ENSP00000286398:L1119F;ENSP00000363925:L1119F;ENSP00000363919:L1119F	ENSP00000286398:L1119F	L	+	3	2	SMC2	105940207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.581000	0.36558	0.353000	0.24079	0.655000	0.94253	TTG		0.388	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			48	74	1	0	6.68952e-21	1	8.26672e-21	48	74				
AKAP6	9472	broad.mit.edu	37	14	33165313	33165313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:33165313C>A	ENST00000280979.4	+	9	3167	c.2997C>A	c.(2995-2997)taC>taA	p.Y999*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.Y999*|AKAP6_ENST00000557354.1_Nonsense_Mutation_p.Y999*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	999					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCATCTTTACAAGGTTAGAG	0.478																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(2995-2997)taC>taA		A kinase (PRKA) anchor protein 6							135.0	109.0	118.0					14																	33165313		2203	4300	6503	SO:0001587	stop_gained	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33165313C>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2997C>A	14.37:g.33165313C>A	ENSP00000280979:p.Tyr999*					AKAP6_ENST00000557272.1_Nonsense_Mutation_p.Y999*|AKAP6_ENST00000557354.1_Nonsense_Mutation_p.Y999*	p.Y999*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	9	3167	+	Breast(36;0.0388)|Prostate(35;0.15)		999					A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	c.2997C>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	43	9.897206	0.99290	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	.	.	.	5.24	5.24	0.73138	.	0.090126	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4733	18.8072	0.92041	0.0:1.0:0.0:0.0	.	.	.	.	X	999	.	ENSP00000280979:Y999X	Y	+	3	2	AKAP6	32235064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.432000	0.66514	2.448000	0.82819	0.650000	0.86243	TAC		0.478	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		10	73	1	0	2.17888e-05	1	2.30794e-05	10	73				
ADAMTS5	11096	broad.mit.edu	37	21	28338542	28338542	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:28338542G>T	ENST00000284987.5	-	1	290	c.169C>A	c.(169-171)Cct>Act	p.P57T		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	57					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCCGGGAGGCTCGGCTCGC	0.731																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(169-171)Cct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 5							12.0	13.0	12.0					21																	28338542		2057	4102	6159	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338542G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.169C>A	21.37:g.28338542G>T	ENSP00000284987:p.Pro57Thr						p.P57T	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			1	290	-			57					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.169C>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105392	0.37145	.	.	ENSG00000154736	ENST00000284987	T	0.61627	0.09	3.65	3.65	0.41850	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000018	T	0.31575	0.0801	N	0.08118	0	0.19945	N	0.999948	B	0.34181	0.44	B	0.31946	0.138	T	0.13845	-1.0494	10	0.22706	T	0.39	.	8.8989	0.35481	0.1119:0.0:0.8881:0.0	.	57	Q9UNA0	ATS5_HUMAN	T	57	ENSP00000284987:P57T	ENSP00000284987:P57T	P	-	1	0	ADAMTS5	27260413	0.135000	0.22499	0.613000	0.29037	0.644000	0.38419	0.845000	0.27668	1.847000	0.53656	0.563000	0.77884	CCT		0.731	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			14	39	1	0	1.05317e-09	1	1.16001e-09	14	39				
LAMA3	3909	broad.mit.edu	37	18	21355855	21355855	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:21355855C>T	ENST00000313654.9	+	10	1614	c.1373C>T	c.(1372-1374)gCa>gTa	p.A458V	LAMA3_ENST00000399516.3_Missense_Mutation_p.A458V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	458	Domain V.|Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAGAAGTGTGCAATTGGATAC	0.507																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1372-1374)gCa>gTa		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						85.0	81.0	82.0					18																	21355855		1963	4151	6114	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21355855C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1373C>T	18.37:g.21355855C>T	ENSP00000324532:p.Ala458Val					LAMA3_ENST00000399516.3_Missense_Mutation_p.A458V	p.A458V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			10	1614	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		458			Domain V.|Laminin EGF-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1373C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839922	0.71488	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.63096	-0.02;-0.02	4.92	4.92	0.64577	EGF-like, laminin (4);	.	.	.	.	T	0.80149	0.4570	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.999	T	0.81562	-0.0876	9	0.51188	T	0.08	.	17.0521	0.86521	0.0:1.0:0.0:0.0	.	458;458;458	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	V	458;458;456;458	ENSP00000324532:A458V;ENSP00000382432:A458V	ENSP00000324532:A458V	A	+	2	0	LAMA3	19609853	1.000000	0.71417	0.953000	0.39169	0.258000	0.26162	6.357000	0.73051	2.563000	0.86464	0.591000	0.81541	GCA		0.507	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		23	78	0	0	0	1	0	23	78				
USP48	84196	broad.mit.edu	37	1	22084256	22084256	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:22084256G>A	ENST00000308271.9	-	2	803	c.155C>T	c.(154-156)cCg>cTg	p.P52L	USP48_ENST00000421625.2_Missense_Mutation_p.P52L|USP48_ENST00000529637.1_Missense_Mutation_p.P52L|USP48_ENST00000400301.1_Missense_Mutation_p.P52L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	52					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CAAGCAATTCGGATTTCCTTT	0.323																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(154-156)cCg>cTg		ubiquitin specific peptidase 48							94.0	87.0	89.0					1																	22084256		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22084256G>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.155C>T	1.37:g.22084256G>A	ENSP00000309262:p.Pro52Leu					USP48_ENST00000400301.1_Missense_Mutation_p.P52L|USP48_ENST00000529637.1_Missense_Mutation_p.P52L|USP48_ENST00000421625.2_Missense_Mutation_p.P52L	p.P52L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	2	803	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	52					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.155C>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964962	0.74131	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.09350	3.02;2.99;2.99;3.3	5.71	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.993;0.996;0.988;0.991;0.983	T	0.06445	-1.0826	10	0.59425	D	0.04	.	13.8307	0.63380	0.0732:0.0:0.9268:0.0	.	52;52;52;52;52;52	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	L	52	ENSP00000383157:P52L;ENSP00000309262:P52L;ENSP00000431949:P52L;ENSP00000406256:P52L	ENSP00000309262:P52L	P	-	2	0	USP48	21956843	1.000000	0.71417	0.923000	0.36655	0.611000	0.37282	9.286000	0.95898	1.416000	0.47057	-0.140000	0.14226	CCG		0.323	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		19	54	0	0	0	1	0	19	54				
KCNT2	343450	broad.mit.edu	37	1	196461471	196461471	+	Splice_Site	SNP	C	C	T	rs535795351		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:196461471C>T	ENST00000294725.9	-	2	1011	c.96G>A	c.(94-96)agG>agA	p.R32R	KCNT2_ENST00000367433.5_Splice_Site_p.R32R|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Splice_Site_p.R32R|KCNT2_ENST00000367431.4_Splice_Site_p.R32R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	32					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAACTTGTACCCTGCAAACAG	0.254													C|||	1	0.000199681	0.0	0.0	5008	,	,		14242	0.0		0.0	False		,,,				2504	0.001					ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.e2-1		potassium channel, subfamily T, member 2							22.0	22.0	22.0					1																	196461471		2146	4230	6376	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196461471C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.96-1G>A	1.37:g.196461471C>T						KCNT2_ENST00000367431.4_Splice_Site_p.R32_splice|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.R32_splice	p.R32_splice			Q6UVM3	KCNT2_HUMAN			2	197	-			32					Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	c.95_splice	CCDS1384.1																																																																																				0.254	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Silent	3	31	0	0	0	1	0	3	31				
MFAP1	4236	broad.mit.edu	37	15	44097352	44097352	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:44097352C>G	ENST00000267812.3	-	9	1492	c.1260G>C	c.(1258-1260)aaG>aaC	p.K420N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	420					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CCCCAGCTGCCTTTTGTTTGA	0.498																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(1258-1260)aaG>aaC		microfibrillar-associated protein 1							122.0	115.0	118.0					15																	44097352		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44097352C>G		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.1260G>C	15.37:g.44097352C>G	ENSP00000267812:p.Lys420Asn						p.K420N	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	9	1492	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	420					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.1260G>C	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681995	0.47991	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.09	2.0	0.26442	.	0.047285	0.85682	N	0.000000	T	0.35508	0.0934	N	0.25380	0.74	0.58432	D	0.999998	P	0.37423	0.594	B	0.35813	0.211	T	0.09335	-1.0679	9	0.30078	T	0.28	-20.7801	10.7712	0.46323	0.0:0.7542:0.0:0.2458	.	420	P55081	MFAP1_HUMAN	N	420	.	ENSP00000267812:K420N	K	-	3	2	MFAP1	41884644	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.337000	0.19841	0.743000	0.32719	-0.145000	0.13849	AAG		0.498	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		30	114	0	0	0	1	0	30	114				
TMC7	79905	broad.mit.edu	37	16	19070845	19070845	+	Intron	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:19070845G>T	ENST00000304381.5	+	15	2236				RP11-626G11.5_ENST00000571934.1_RNA|TMC7_ENST00000421369.3_Intron|TMC7_ENST00000569532.1_Missense_Mutation_p.W712L	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7						ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGAGGGTCATGGCTGGGGACA	0.522																																						ENST00000569532.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(2134-2136)tGg>tTg		transmembrane channel-like 7							99.0	89.0	93.0					16																	19070845		2197	4300	6497	SO:0001627	intron_variant	79905					integral to membrane		g.chr16:19070845G>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2106+29G>T	16.37:g.19070845G>T						TMC7_ENST00000304381.5_Intron|TMC7_ENST00000421369.3_Intron	p.W712L			Q7Z402	TMC7_HUMAN			15	2265	+			0					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.2135G>T	CCDS10573.1																																																																																				0.522	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		10	86	1	0	3.86212e-05	1	4.0416e-05	10	86				
KLHDC8B	200942	broad.mit.edu	37	3	49211804	49211804	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:49211804C>T	ENST00000332780.2	+	3	718	c.509C>T	c.(508-510)aCc>aTc	p.T170I	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	170						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGGCCTCCACCTTCCTGCAC	0.612																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(508-510)aCc>aTc		kelch domain containing 8B							74.0	68.0	70.0					3																	49211804		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49211804C>T		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.509C>T	3.37:g.49211804C>T	ENSP00000327468:p.Thr170Ile					KLHDC8B_ENST00000476495.2_3'UTR	p.T170I	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	718	+			170						Missense_Mutation	SNP	ENST00000332780.2	37	c.509C>T	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297013	0.60086	.	.	ENSG00000185909	ENST00000332780	T	0.66638	-0.22	5.4	5.4	0.78164	Kelch-type beta propeller (1);	0.122142	0.53938	D	0.000042	T	0.57932	0.2087	N	0.25890	0.77	0.46356	D	0.999008	B	0.28178	0.202	B	0.30029	0.11	T	0.56414	-0.7983	10	0.44086	T	0.13	-30.9278	18.16	0.89705	0.0:1.0:0.0:0.0	.	170	Q8IXV7	KLD8B_HUMAN	I	170	ENSP00000327468:T170I	ENSP00000327468:T170I	T	+	2	0	KLHDC8B	49186808	0.778000	0.28640	1.000000	0.80357	0.995000	0.86356	4.911000	0.63328	2.516000	0.84829	0.561000	0.74099	ACC		0.612	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		21	77	0	0	0	1	0	21	77				
TNN	63923	broad.mit.edu	37	1	175066728	175066728	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:175066728A>G	ENST00000239462.4	+	8	1877	c.1764A>G	c.(1762-1764)acA>acG	p.T588T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	588	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCCTGACAGGCCTGAGGC	0.587																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(1762-1764)acA>acG		tenascin N							87.0	73.0	78.0					1																	175066728		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175066728A>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1764A>G	1.37:g.175066728A>G							p.T588T	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	8	1877	+		Breast(1374;0.000962)	588			Fibronectin type-III 4.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.1764A>G	CCDS30943.1																																																																																				0.587	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		23	84	0	0	0	1	0	23	84				
BEST3	144453	broad.mit.edu	37	12	70072666	70072666	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:70072666C>A	ENST00000330891.5	-	5	715	c.489G>T	c.(487-489)atG>atT	p.M163I	BEST3_ENST00000331471.4_Missense_Mutation_p.M163I|BEST3_ENST00000476098.1_Start_Codon_SNP_p.M1I|BEST3_ENST00000553096.1_Missense_Mutation_p.M57I|BEST3_ENST00000488961.1_Start_Codon_SNP_p.M1I	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	163					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CATCTGTTGTCATAAAACCTT	0.333																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(487-489)atG>atT		bestrophin 3							70.0	64.0	66.0					12																	70072666		1812	4072	5884	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70072666C>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.489G>T	12.37:g.70072666C>A	ENSP00000332413:p.Met163Ile					BEST3_ENST00000488961.1_Start_Codon_SNP_p.M1I|BEST3_ENST00000476098.1_Start_Codon_SNP_p.M1I|BEST3_ENST00000553096.1_Missense_Mutation_p.M57I|BEST3_ENST00000331471.4_Missense_Mutation_p.M163I	p.M163I	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		5	715	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		163					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.489G>T	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904123	0.92035	.	.	ENSG00000127325	ENST00000331471;ENST00000488961;ENST00000330891;ENST00000553096;ENST00000476098;ENST00000552295;ENST00000548658	D;D;D;D;D;D;D	0.98701	-5.08;-4.55;-5.08;-5.08;-4.93;-5.08;-4.9	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.88570	2.965	0.80722	D	1	D;P;D;D	0.61697	0.975;0.854;0.983;0.99	P;P;P;D	0.66847	0.876;0.85;0.902;0.947	D	0.99323	1.0907	10	0.59425	D	0.04	-28.0744	19.6101	0.95602	0.0:1.0:0.0:0.0	.	1;163;1;163	E9PNM2;Q8N1M1;B5MDI8;Q8N1M1-1	.;BEST3_HUMAN;.;.	I	163;1;163;57;1;57;85	ENSP00000329064:M163I;ENSP00000433213:M1I;ENSP00000332413:M163I;ENSP00000449548:M57I;ENSP00000434713:M1I;ENSP00000447689:M57I;ENSP00000446575:M85I	ENSP00000332413:M163I	M	-	3	0	BEST3	68358933	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.487000	0.81328	2.640000	0.89533	0.650000	0.86243	ATG		0.333	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		8	41	1	0	0.0581538	1	0.0587334	8	41				
JARID2	3720	broad.mit.edu	37	6	15496739	15496739	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:15496739G>A	ENST00000341776.2	+	7	1527	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	JARID2_ENST00000397311.3_Missense_Mutation_p.R256Q|JARID2_ENST00000541660.1_Missense_Mutation_p.R390Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	428					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGCAGCTGCGGGAGGGCCTG	0.652																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1282-1284)cGg>cAg		jumonji, AT rich interactive domain 2							15.0	21.0	19.0					6																	15496739		2098	4165	6263	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496739G>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1283G>A	6.37:g.15496739G>A	ENSP00000341280:p.Arg428Gln					JARID2_ENST00000397311.3_Missense_Mutation_p.R256Q|JARID2_ENST00000541660.1_Missense_Mutation_p.R390Q	p.R428Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1527	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	428					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.1283G>A	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264413	0.39995	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.88201	-1.72;-1.72;-2.35	0.361	0.361	0.16107	.	2.560210	0.04594	U	0.397360	T	0.61324	0.2338	L	0.34521	1.04	0.23720	N	0.997023	P;B;B	0.44578	0.838;0.055;0.055	B;B;B	0.26969	0.075;0.002;0.001	T	0.57974	-0.7718	9	0.25106	T	0.35	.	.	.	.	.	390;292;428	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	Q	292;428;256;390	ENSP00000341280:R428Q;ENSP00000380478:R256Q;ENSP00000444623:R390Q	ENSP00000341280:R428Q	R	+	2	0	JARID2	15604718	0.992000	0.36948	0.987000	0.45799	0.978000	0.69477	0.251000	0.18257	0.406000	0.25560	0.411000	0.27672	CGG		0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		14	52	0	0	0	1	0	14	52				
PLCB1	23236	broad.mit.edu	37	20	8113334	8113334	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:8113334A>G	ENST00000338037.6	+	1	63	c.36A>G	c.(34-36)caA>caG	p.Q12Q	PLCB1_ENST00000378637.2_Silent_p.Q12Q|PLCB1_ENST00000378641.3_Silent_p.Q12Q	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	12				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). {ECO:0000305}.	activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACGCCTTGCAACTCAAGCCCG	0.687																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(34-36)caA>caG		phospholipase C, beta 1 (phosphoinositide-specific)							40.0	33.0	36.0					20																	8113334		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8113334A>G	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.36A>G	20.37:g.8113334A>G						PLCB1_ENST00000378637.2_Silent_p.Q12Q|PLCB1_ENST00000338037.6_Silent_p.Q12Q	p.Q12Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			1	511	+			12	MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).				D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.36A>G	CCDS13102.1																																																																																				0.687	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			13	30	0	0	0	1	0	13	30				
LSAMP	4045	broad.mit.edu	37	3	116163757	116163757	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:116163757A>T	ENST00000490035.2	-	1	621	c.122T>A	c.(121-123)aTc>aAc	p.I41N	LSAMP_ENST00000539563.1_Missense_Mutation_p.I38N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	41	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCTCACGGTGATGTTGTCCGT	0.557																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(121-123)aTc>aAc		limbic system-associated membrane protein							113.0	95.0	101.0					3																	116163757		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:116163757A>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.122T>A	3.37:g.116163757A>T	ENSP00000419000:p.Ile41Asn					LSAMP_ENST00000539563.1_Missense_Mutation_p.I38N	p.I41N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	1	621	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	41			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.122T>A	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017408	0.75161	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.47	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.085034	0.49305	D	0.000148	T	0.78291	0.4260	M	0.80847	2.515	0.45580	D	0.998528	P;D	0.54601	0.627;0.967	B;P	0.57009	0.31;0.811	T	0.82252	-0.0549	10	0.87932	D	0	-9.2231	13.1465	0.59465	1.0:0.0:0.0:0.0	.	41;41	B2RCU8;Q13449	.;LSAMP_HUMAN	N	25;41;38;75	ENSP00000328455:I25N;ENSP00000419000:I41N;ENSP00000443429:I38N;ENSP00000418506:I75N	ENSP00000328455:I25N	I	-	2	0	LSAMP	117646447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.470000	0.90399	1.887000	0.54652	0.529000	0.55759	ATC		0.557	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		18	33	0	0	0	1	0	18	33				
ZNF91	7644	broad.mit.edu	37	19	23543263	23543263	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:23543263C>T	ENST00000300619.7	-	4	2723	c.2518G>A	c.(2518-2520)Gcc>Acc	p.A840T	ZNF91_ENST00000397082.2_Missense_Mutation_p.A808T|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	840					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTAGCAAGGGCTGAGGAGTGC	0.368																																						ENST00000300619.7																			0											c.(2518-2520)Gcc>Acc		zinc finger protein 91							55.0	57.0	57.0					19																	23543263		2127	4269	6396	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543263C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2518G>A	19.37:g.23543263C>T	ENSP00000300619:p.Ala840Thr					ZNF91_ENST00000397082.2_Missense_Mutation_p.A808T|ZNF91_ENST00000599743.1_Intron	p.A840T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2723	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	840					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2518G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.183586	0.00308	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.08008	3.14;3.14	0.949	-1.9	0.07665	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.20766	0.605	0.09310	N	1	B;B	0.14012	0.009;0.004	B;B	0.16289	0.015;0.003	T	0.44050	-0.9353	9	0.14656	T	0.56	.	2.7896	0.05384	0.3287:0.2943:0.0:0.377	.	808;840	Q05481-2;Q05481	.;ZNF91_HUMAN	T	840;808	ENSP00000300619:A840T;ENSP00000380272:A808T	ENSP00000300619:A840T	A	-	1	0	ZNF91	23335103	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.002000	0.00316	-2.329000	0.00634	-1.651000	0.00758	GCC		0.368	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		24	94	0	0	0	1	0	24	94				
HSPH1	10808	broad.mit.edu	37	13	31722151	31722151	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:31722151C>T	ENST00000320027.5	-	10	1667	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	HSPH1_ENST00000380405.4_Silent_p.E441E|HSPH1_ENST00000380406.5_Silent_p.E400E|HSPH1_ENST00000445273.2_Silent_p.E443E|HSPH1_ENST00000429785.2_Silent_p.E260E	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	441					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AAGCTTCTAGCTCAAAAGGCC	0.388																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1321-1323)gaG>gaA		heat shock 105kDa/110kDa protein 1							139.0	158.0	152.0					13																	31722151		2203	4300	6503	SO:0001819	synonymous_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31722151C>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1323G>A	13.37:g.31722151C>T						HSPH1_ENST00000429785.2_Silent_p.E260E|HSPH1_ENST00000380405.4_Silent_p.E441E|HSPH1_ENST00000380406.5_Silent_p.E400E|HSPH1_ENST00000445273.2_Silent_p.E443E	p.E441E	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	10	1667	-		Lung SC(185;0.0257)	441					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.1323G>A	CCDS9340.1																																																																																				0.388	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			16	174	0	0	0	1	0	16	174				
TFRC	7037	broad.mit.edu	37	3	195799023	195799023	+	Splice_Site	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:195799023C>A	ENST00000360110.4	-	5	604	c.435G>T	c.(433-435)aaG>aaT	p.K145N	TFRC_ENST00000392396.3_Splice_Site_p.K145N|TFRC_ENST00000420415.1_Splice_Site_p.K64N|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|RNU7-18P_ENST00000516365.1_RNA	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	145					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CATTCAGCAGCCTGGAGGAGA	0.308			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e5-1		transferrin receptor							62.0	62.0	62.0					3																	195799023		2203	4300	6503	SO:0001630	splice_region_variant	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195799023C>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.435-1G>T	3.37:g.195799023C>A						TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_Splice_Site_p.K64_splice|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Splice_Site_p.K145_splice	p.K145_splice	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	5	604	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		145					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Splice_Site	SNP	ENST00000360110.4	37	c.434_splice	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521001	0.64747	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.36340	1.26;1.26;1.26	5.68	2.91	0.33838	.	2.583580	0.00799	N	0.001418	T	0.42562	0.1208	M	0.83692	2.655	0.30040	N	0.812706	P	0.42556	0.783	B	0.37304	0.246	T	0.36890	-0.9729	10	0.56958	D	0.05	.	3.2699	0.06878	0.145:0.5791:0.1408:0.135	.	145	P02786	TFR1_HUMAN	N	145;64;145	ENSP00000353224:K145N;ENSP00000390133:K64N;ENSP00000376197:K145N	ENSP00000353224:K145N	K	-	3	2	TFRC	197283420	0.006000	0.16342	0.296000	0.24974	0.504000	0.33889	-0.243000	0.08915	0.426000	0.26116	0.591000	0.81541	AAG		0.308	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1		Missense_Mutation	17	104	1	0	3.99206e-14	1	4.60564e-14	17	104				
AKAP9	10142	broad.mit.edu	37	7	91729012	91729012	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:91729012G>A	ENST00000359028.2	+	44	10962	c.10737G>A	c.(10735-10737)gtG>gtA	p.V3579V	AKAP9_ENST00000358100.2_Silent_p.V3525V|AKAP9_ENST00000356239.3_Silent_p.V3575V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3579					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAGCTTGGTGTCCCCAAGTA	0.418			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(10735-10737)gtG>gtA		A kinase (PRKA) anchor protein 9							151.0	150.0	150.0					7																	91729012		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91729012G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10737G>A	7.37:g.91729012G>A						AKAP9_ENST00000358100.2_Silent_p.V3525V|AKAP9_ENST00000356239.3_Silent_p.V3575V	p.V3579V			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		44	10962	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3579					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.10737G>A																																																																																					0.418	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		52	167	0	0	0	1	0	52	167				
OR11L1	391189	broad.mit.edu	37	1	248004501	248004501	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:248004501C>A	ENST00000355784.2	-	1	753	c.698G>T	c.(697-699)gGc>gTc	p.G233V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	233						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTTCTCCGGCCAGAGGTGGA	0.502																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(697-699)gGc>gTc		olfactory receptor, family 11, subfamily L, member 1							92.0	93.0	93.0					1																	248004501		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004501C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.698G>T	1.37:g.248004501C>A	ENSP00000348033:p.Gly233Val						p.G233V	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	753	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		233						Missense_Mutation	SNP	ENST00000355784.2	37	c.698G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030349	0.35797	.	.	ENSG00000197591	ENST00000355784	T	0.00299	8.22	4.42	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35151	U	0.003415	T	0.00784	0.0026	M	0.88640	2.97	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.65878	-0.6061	10	0.87932	D	0	.	12.3326	0.55048	0.0:0.9163:0.0:0.0837	.	233	Q8NGX0	O11L1_HUMAN	V	233	ENSP00000348033:G233V	ENSP00000348033:G233V	G	-	2	0	OR11L1	246071124	0.000000	0.05858	0.005000	0.12908	0.033000	0.12548	0.304000	0.19228	1.229000	0.43630	0.543000	0.68304	GGC		0.502	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		19	78	1	0	5.35267e-07	1	5.73972e-07	19	78				
ZNF491	126069	broad.mit.edu	37	19	11917346	11917346	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:11917346G>C	ENST00000323169.5	+	3	909	c.578G>C	c.(577-579)gGg>gCg	p.G193A	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAGGAGTGTGGGAAATCATTC	0.423																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(577-579)gGg>gCg		zinc finger protein 491							60.0	59.0	60.0					19																	11917346		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917346G>C	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.578G>C	19.37:g.11917346G>C	ENSP00000313443:p.Gly193Ala					ZNF491_ENST00000492230.1_Intron	p.G193A	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	909	+			193					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.578G>C	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.853472	0.51270	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.21361	2.01	0.892	0.892	0.19230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33904	0.0879	M	0.69823	2.125	0.29768	N	0.835028	D	0.65815	0.995	P	0.54372	0.75	T	0.29549	-1.0008	9	0.87932	D	0	.	9.3037	0.37863	0.0:0.0:1.0:0.0	.	193	Q8N8L2	ZN491_HUMAN	A	193	ENSP00000313443:G193A	ENSP00000313443:G193A	G	+	2	0	ZNF491	11778346	0.782000	0.28689	0.023000	0.16930	0.176000	0.22953	0.328000	0.19681	0.774000	0.33427	0.407000	0.27541	GGG		0.423	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		29	57	0	0	0	1	0	29	57				
SYCP2	10388	broad.mit.edu	37	20	58444966	58444966	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:58444966C>G	ENST00000357552.3	-	36	3853	c.3628G>C	c.(3628-3630)Gaa>Caa	p.E1210Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1210Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1210					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTTGTGTTTCTTGTGTAAGT	0.308																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3628-3630)Gaa>Caa		synaptonemal complex protein 2							159.0	149.0	152.0					20																	58444966		2200	4295	6495	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58444966C>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3628G>C	20.37:g.58444966C>G	ENSP00000350162:p.Glu1210Gln					SYCP2_ENST00000371001.2_Missense_Mutation_p.E1210Q	p.E1210Q			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		36	3853	-	all_lung(29;0.00344)		1210					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3628G>C	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418490	0.25552	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.14144	2.53;2.53	4.61	2.21	0.28008	.	1.507180	0.04111	N	0.314559	T	0.15305	0.0369	L	0.33485	1.01	0.09310	N	1	P	0.48016	0.904	P	0.46718	0.525	T	0.22173	-1.0224	10	0.30854	T	0.27	-2.8457	6.8316	0.23913	0.0:0.729:0.0:0.271	.	1210	Q9BX26	SYCP2_HUMAN	Q	1210	ENSP00000360040:E1210Q;ENSP00000350162:E1210Q	ENSP00000350162:E1210Q	E	-	1	0	SYCP2	57878361	0.002000	0.14202	0.002000	0.10522	0.485000	0.33311	1.360000	0.34125	0.885000	0.36088	0.563000	0.77884	GAA		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		41	167	0	0	0	1	0	41	167				
FRMPD1	22844	broad.mit.edu	37	9	37744409	37744409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:37744409G>T	ENST00000539465.1	+	16	2973	c.2380G>T	c.(2380-2382)Gaa>Taa	p.E794*	FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E794*|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	794						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCTACTGCAGAACCCAGTGC	0.507																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2380-2382)Gaa>Taa		FERM and PDZ domain containing 1							104.0	115.0	111.0					9																	37744409		2203	4300	6503	SO:0001587	stop_gained	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37744409G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2380G>T	9.37:g.37744409G>T	ENSP00000444411:p.Glu794*					FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E794*|RP11-613M10.9_ENST00000540557.1_Intron	p.E794*			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	2973	+			794					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Nonsense_Mutation	SNP	ENST00000539465.1	37	c.2380G>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	44	10.732363	0.99458	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	.	.	.	5.53	3.67	0.42095	.	1.041120	0.07517	N	0.909992	.	.	.	.	.	.	0.19575	N	0.999961	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.6829	7.5228	0.27637	0.0891:0.1672:0.7438:0.0	.	.	.	.	X	794	.	ENSP00000366995:E794X	E	+	1	0	FRMPD1	37734409	0.003000	0.15002	0.085000	0.20634	0.990000	0.78478	1.104000	0.31074	0.691000	0.31592	0.561000	0.74099	GAA		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		50	352	1	0	2.17126e-26	1	2.74454e-26	50	352				
CSMD3	114788	broad.mit.edu	37	8	113694742	113694742	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:113694742C>A	ENST00000297405.5	-	16	2850	c.2606G>T	c.(2605-2607)gGa>gTa	p.G869V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G829V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G765V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G869V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	869	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTTCTGTTCCCTGGGTTTT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2605-2607)gGa>gTa		CUB and Sushi multiple domains 3							136.0	132.0	134.0					8																	113694742		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113694742C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2606G>T	8.37:g.113694742C>A	ENSP00000297405:p.Gly869Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.G869V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G829V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G765V	p.G869V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			16	2850	-			869			Sushi 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2606G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737204	0.89482	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.68	5.68	0.88126	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.90256	0.6953	H	0.96996	3.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92986	0.6410	10	0.87932	D	0	.	19.7925	0.96464	0.0:1.0:0.0:0.0	.	765;869;829	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	829;869;209;765;869	ENSP00000345799:G829V;ENSP00000297405:G869V;ENSP00000341558:G209V;ENSP00000412263:G765V;ENSP00000343124:G869V	ENSP00000297405:G869V	G	-	2	0	CSMD3	113763918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.681000	0.91329	0.650000	0.86243	GGA		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	112	1	0	3.45872e-05	1	3.64454e-05	16	112				
SYK	6850	broad.mit.edu	37	9	93650814	93650814	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:93650814A>T	ENST00000375754.4	+	13	1888	c.1740A>T	c.(1738-1740)gaA>gaT	p.E580D	SYK_ENST00000375747.1_Missense_Mutation_p.E557D|SYK_ENST00000375746.1_Missense_Mutation_p.E580D|SYK_ENST00000375751.4_Missense_Mutation_p.E557D	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	580	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAGGAAGTGAAGTCACCGCTA	0.438			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(1738-1740)gaA>gaT		spleen tyrosine kinase							106.0	92.0	97.0					9																	93650814		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650814A>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1740A>T	9.37:g.93650814A>T	ENSP00000364907:p.Glu580Asp					SYK_ENST00000375747.1_Missense_Mutation_p.E557D|SYK_ENST00000375751.4_Missense_Mutation_p.E557D|SYK_ENST00000375746.1_Missense_Mutation_p.E580D	p.E580D	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			13	1888	+			580			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1740A>T	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610206	0.28712	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.22	1.6	0.23607	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060351	0.64402	D	0.000001	T	0.69133	0.3077	N	0.25031	0.7	0.58432	D	0.999999	B;B	0.15141	0.01;0.012	B;B	0.15484	0.008;0.013	T	0.59451	-0.7452	10	0.40728	T	0.16	.	8.8412	0.35142	0.7823:0.0:0.2177:0.0	.	557;580	P43405-2;P43405	.;KSYK_HUMAN	D	580;557;557;580	ENSP00000364907:E580D;ENSP00000364904:E557D;ENSP00000364899:E557D;ENSP00000364898:E580D	ENSP00000364898:E580D	E	+	3	2	SYK	92690635	0.912000	0.30974	0.996000	0.52242	0.473000	0.32948	0.107000	0.15375	0.381000	0.24851	0.455000	0.32223	GAA		0.438	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			5	20	0	0	0	1	0	5	20				
JPH3	57338	broad.mit.edu	37	16	87636846	87636846	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:87636846G>A	ENST00000284262.2	+	1	336	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	RP11-482M8.3_ENST00000602388.1_RNA	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	32	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGTCTGCACCGGCCCCAAGGG	0.647																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(94-96)Ggc>Agc		junctophilin 3							51.0	53.0	52.0					16																	87636846		2198	4299	6497	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87636846G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.94G>A	16.37:g.87636846G>A	ENSP00000284262:p.Gly32Ser						p.G32S	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	1	336	+			32			Gly-rich.		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.94G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.337025	0.81801	.	.	ENSG00000154118	ENST00000301008;ENST00000284262	T	0.53640	0.61	4.04	4.04	0.47022	.	0.058276	0.64402	U	0.000002	T	0.62588	0.2440	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59606	-0.7423	10	0.23302	T	0.38	.	15.1927	0.73060	0.0:0.0:1.0:0.0	.	32	Q8WXH2	JPH3_HUMAN	S	32	ENSP00000284262:G32S	ENSP00000284262:G32S	G	+	1	0	JPH3	86194347	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	9.061000	0.93913	1.792000	0.52537	0.450000	0.29827	GGC		0.647	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			4	99	0	0	0	1	0	4	99				
PHF14	9678	broad.mit.edu	37	7	11091407	11091407	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:11091407G>A	ENST00000403050.3	+	14	2933	c.2481G>A	c.(2479-2481)acG>acA	p.T827T	PHF14_ENST00000445996.2_Splice_Site_p.T542T	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	827					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAAGAAACACGGTAGTTTATT	0.388																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.e14+1		PHD finger protein 14							51.0	48.0	49.0					7																	11091407		1851	4101	5952	SO:0001630	splice_region_variant	9678						zinc ion binding	g.chr7:11091407G>A	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2481+1G>A	7.37:g.11091407G>A						PHF14_ENST00000445996.2_Splice_Site_p.T542_splice	p.T827_splice	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	14	2933	+			827					A7MCZ3|B4DI82	Splice_Site	SNP	ENST00000403050.3	37	c.2481_splice	CCDS47542.1																																																																																				0.388	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660	Silent	11	32	0	0	0	1	0	11	32				
C11orf53	341032	broad.mit.edu	37	11	111156520	111156520	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:111156520G>A	ENST00000280325.4	+	4	599	c.452G>A	c.(451-453)aGc>aAc	p.S151N		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	151										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGGGGCTCAAGCTGGGGGTCA	0.642																																						ENST00000280325.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8						c.(451-453)aGc>aAc		chromosome 11 open reading frame 53							73.0	71.0	71.0					11																	111156520		2201	4297	6498	SO:0001583	missense	341032							g.chr11:111156520G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.452G>A	11.37:g.111156520G>A	ENSP00000280325:p.Ser151Asn						p.S151N	NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	4	599	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	151						Missense_Mutation	SNP	ENST00000280325.4	37	c.452G>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	9.142	1.014100	0.19277	.	.	ENSG00000150750	ENST00000280325	.	.	.	5.15	3.24	0.37175	.	0.665589	0.15549	N	0.256529	T	0.39708	0.1088	L	0.59436	1.845	0.24548	N	0.994034	B	0.12013	0.005	B	0.11329	0.006	T	0.36817	-0.9732	9	0.46703	T	0.11	-3.4248	4.2062	0.10490	0.0867:0.1569:0.5945:0.1619	.	151	Q8IXP5	CK053_HUMAN	N	151	.	ENSP00000280325:S151N	S	+	2	0	C11orf53	110661730	0.729000	0.28090	0.571000	0.28486	0.789000	0.44602	2.160000	0.42348	0.546000	0.28920	0.561000	0.74099	AGC		0.642	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		18	97	0	0	0	1	0	18	97				
TRPV4	59341	broad.mit.edu	37	12	110230550	110230550	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:110230550C>T	ENST00000418703.2	-	10	1825	c.1731G>A	c.(1729-1731)gtG>gtA	p.V577V	TRPV4_ENST00000537083.1_Silent_p.V517V|TRPV4_ENST00000536838.1_Silent_p.V543V|TRPV4_ENST00000346520.2_Silent_p.V517V|TRPV4_ENST00000541794.1_Silent_p.V530V|TRPV4_ENST00000392719.2_Silent_p.V530V|TRPV4_ENST00000261740.2_Silent_p.V577V|TRPV4_ENST00000544971.1_Silent_p.V470V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	577					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAAAGACCATCACGGCCAGGT	0.577																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1729-1731)gtG>gtA		transient receptor potential cation channel, subfamily V, member 4							83.0	66.0	72.0					12																	110230550		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230550C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1731G>A	12.37:g.110230550C>T						TRPV4_ENST00000536838.1_Silent_p.V543V|TRPV4_ENST00000544971.1_Silent_p.V470V|TRPV4_ENST00000392719.2_Silent_p.V530V|TRPV4_ENST00000346520.2_Silent_p.V517V|TRPV4_ENST00000261740.2_Silent_p.V577V|TRPV4_ENST00000541794.1_Silent_p.V530V|TRPV4_ENST00000537083.1_Silent_p.V517V	p.V577V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			10	1825	-			577					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1731G>A	CCDS9134.1																																																																																				0.577	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		7	34	0	0	0	1	0	7	34				
DAXX	1616	broad.mit.edu	37	6	33286951	33286951	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:33286951C>A	ENST00000374542.5	-	7	2190	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.K587N|DAXX_ENST00000266000.6_Missense_Mutation_p.K662N	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	662	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGGTACATATCTTTTTCCCAT	0.542			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1984-1986)aaG>aaT		death-domain associated protein							97.0	102.0	100.0					6																	33286951		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33286951C>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1986G>T	6.37:g.33286951C>A	ENSP00000363668:p.Lys662Asn					DAXX_ENST00000414083.2_Missense_Mutation_p.K587N|DAXX_ENST00000266000.6_Missense_Mutation_p.K662N	p.K662N	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			7	2190	-			662			Interaction with SPOP.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1986G>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	0.357	-0.941749	0.02322	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.34	2.53	0.30540	.	0.838159	0.10515	N	0.665623	T	0.09774	0.0240	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.34976	-0.9807	9	0.20519	T	0.43	-4.4566	6.3925	0.21595	0.0:0.7152:0.1835:0.1013	.	674;662	B4E1C1;Q9UER7	.;DAXX_HUMAN	N	662;662;587	.	ENSP00000266000:K662N	K	-	3	2	DAXX	33394929	0.000000	0.05858	0.002000	0.10522	0.114000	0.19823	-0.056000	0.11787	0.568000	0.29311	-0.163000	0.13421	AAG		0.542	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			31	82	1	0	9.78306e-22	1	1.21638e-21	31	82				
TGM6	343641	broad.mit.edu	37	20	2375188	2375188	+	Missense_Mutation	SNP	G	G	A	rs374951502		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:2375188G>A	ENST00000202625.2	+	2	159	c.98G>A	c.(97-99)cGc>cAc	p.R33H	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.R33H	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	33					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTGGTGGTTCGCAGGGGCCAG	0.632																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(97-99)cGc>cAc		transglutaminase 6	L-Glutamine(DB00130)	G	HIS/ARG	0,4406		0,0,2203	44.0	36.0	39.0		98	4.5	1.0	20		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	TGM6	NM_198994.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	33/707	2375188	1,13005	2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375188G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.98G>A	20.37:g.2375188G>A	ENSP00000202625:p.Arg33His					TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.R33H	p.R33H	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			2	159	+			33					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.98G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921418	0.92249	0.0	1.16E-4	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.98947	-5.26;-5.26	4.49	4.49	0.54785	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99278	0.9748	M	0.92784	3.345	0.47621	D	0.999472	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98748	1.0719	10	0.87932	D	0	-18.3194	15.0561	0.71915	0.0:0.0:1.0:0.0	.	33;33	O95932-2;O95932	.;TGM3L_HUMAN	H	33	ENSP00000202625:R33H;ENSP00000370831:R33H	ENSP00000202625:R33H	R	+	2	0	TGM6	2323188	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.077000	0.89505	2.474000	0.83562	0.462000	0.41574	CGC		0.632	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		12	18	0	0	0	1	0	12	18				
RAB11FIP1	80223	broad.mit.edu	37	8	37730229	37730229	+	Silent	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:37730229A>C	ENST00000330843.4	-	4	2103	c.2091T>G	c.(2089-2091)ccT>ccG	p.P697P	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	697					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCCTGTTTCAGGCTGCTCTG	0.522																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(2089-2091)ccT>ccG		RAB11 family interacting protein 1 (class I)							95.0	92.0	93.0					8																	37730229		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730229A>C	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2091T>G	8.37:g.37730229A>C						RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	p.P697P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	2103	-		Lung NSC(58;0.118)|all_lung(54;0.195)	697					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.2091T>G	CCDS34882.1																																																																																				0.522	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		26	88	0	0	0	1	0	26	88				
RGS20	8601	broad.mit.edu	37	8	54791898	54791898	+	Silent	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:54791898C>G	ENST00000297313.3	+	2	338	c.246C>G	c.(244-246)ctC>ctG	p.L82L	RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000276500.4_5'Flank|RGS20_ENST00000344277.6_Intron|RGS20_ENST00000522225.1_5'Flank	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	82					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TTTCCAGCCTCGCAAGGTTCT	0.701																																						ENST00000297313.3																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(244-246)ctC>ctG		regulator of G-protein signaling 20							83.0	103.0	96.0					8																	54791898		2203	4300	6503	SO:0001819	synonymous_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54791898C>G	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.246C>G	8.37:g.54791898C>G						RGS20_ENST00000344277.6_Intron	p.L82L	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	338	+			82					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.246C>G	CCDS6155.1																																																																																				0.701	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			44	125	0	0	0	1	0	44	125				
COL5A3	50509	broad.mit.edu	37	19	10112295	10112295	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:10112295C>T	ENST00000264828.3	-	8	1100	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	339	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCCTGGCTGCCTTGGTCTCC	0.532											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(1015-1017)Gca>Aca		collagen, type V, alpha 3							95.0	93.0	94.0					19																	10112295		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10112295C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1015G>A	19.37:g.10112295C>T	ENSP00000264828:p.Ala339Thr		OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662		p.A339T	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		8	1100	-			339			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1015G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411054	0.25465	.	.	ENSG00000080573	ENST00000264828	D	0.89123	-2.47	4.5	-3.86	0.04230	.	3.373090	0.02245	N	0.066165	T	0.71367	0.3331	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.62714	-0.6796	10	0.13470	T	0.59	.	0.3959	0.00418	0.3528:0.2079:0.2345:0.2048	.	339	P25940	CO5A3_HUMAN	T	339	ENSP00000264828:A339T	ENSP00000264828:A339T	A	-	1	0	COL5A3	9973295	0.000000	0.05858	0.000000	0.03702	0.240000	0.25518	-0.595000	0.05727	-0.190000	0.10465	0.462000	0.41574	GCA		0.532	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		20	63	0	0	0	1	0	20	63				
F10	2159	broad.mit.edu	37	13	113793721	113793721	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:113793721G>A	ENST00000375559.3	+	4	345	c.307G>A	c.(307-309)Gac>Aac	p.D103N	F10_ENST00000409306.1_Missense_Mutation_p.D103N|F10_ENST00000375551.3_Missense_Mutation_p.D103N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	103	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CAAATGTAAAGACGGCCTCGG	0.488																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	GRCh37	CM082618	F10	M		c.(307-309)Gac>Aac		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						116.0	104.0	108.0					13																	113793721		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113793721G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.307G>A	13.37:g.113793721G>A	ENSP00000364709:p.Asp103Asn					F10_ENST00000409306.1_Missense_Mutation_p.D103N|F10_ENST00000375551.3_Missense_Mutation_p.D103N	p.D103N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		4	345	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	103			EGF-like 1; calcium-binding (Potential).		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.307G>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815310	0.70912	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.99563	-6.17;-6.17;-6.17	5.63	5.63	0.86233	Gamma-carboxyglutamic acid-rich (GLA) domain (1);EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	L	0.48174	1.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.99474	1.0946	10	0.87932	D	0	.	19.32	0.94234	0.0:0.0:1.0:0.0	.	103;103;103	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	N	103	ENSP00000387092:D103N;ENSP00000364701:D103N;ENSP00000364709:D103N	ENSP00000364701:D103N	D	+	1	0	F10	112841722	1.000000	0.71417	0.074000	0.20217	0.007000	0.05969	9.275000	0.95738	2.652000	0.90054	0.655000	0.94253	GAC		0.488	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			12	57	0	0	0	1	0	12	57				
SLC18A2	6571	broad.mit.edu	37	10	119015117	119015117	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:119015117G>A	ENST00000298472.5	+	9	987	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	282					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAGTCAGAAGGGGACACCCCT	0.612																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(844-846)Ggg>Agg		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						58.0	60.0	59.0					10																	119015117		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119015117G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.844G>A	10.37:g.119015117G>A	ENSP00000298472:p.Gly282Arg					SLC18A2_ENST00000497497.1_3'UTR	p.G282R	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	9	987	+		Colorectal(252;0.19)	282					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.844G>A	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241257	0.79912	.	.	ENSG00000165646	ENST00000298472	T	0.56941	0.43	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.79805	2.47	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.73110	-0.4086	10	0.33940	T	0.23	-15.1202	18.8216	0.92099	0.0:0.0:1.0:0.0	.	282	Q05940	VMAT2_HUMAN	R	282	ENSP00000298472:G282R	ENSP00000298472:G282R	G	+	1	0	SLC18A2	119005107	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.675000	0.98638	2.505000	0.84491	0.563000	0.77884	GGG		0.612	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		22	74	0	0	0	1	0	22	74				
ASS1	445	broad.mit.edu	37	9	133333932	133333932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:133333932C>T	ENST00000372394.1	+	5	800	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	ASS1_ENST00000352480.5_Nonsense_Mutation_p.Q107*|ASS1_ENST00000372393.3_Nonsense_Mutation_p.Q107*			P00966	ASSY_HUMAN	argininosuccinate synthase 1	107					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGAAATCGCCCAGCGGGAGGG	0.662																																						ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(319-321)Cag>Tag		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						25.0	25.0	25.0					9																	133333932		2203	4300	6503	SO:0001587	stop_gained	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133333932C>T	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.319C>T	9.37:g.133333932C>T	ENSP00000361471:p.Gln107*					ASS1_ENST00000352480.5_Nonsense_Mutation_p.Q107*|ASS1_ENST00000372393.3_Nonsense_Mutation_p.Q107*	p.Q107*			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	5	800	+			107					Q6LDL2|Q86UZ0|Q96GT4	Nonsense_Mutation	SNP	ENST00000372394.1	37	c.319C>T	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	C	41	9.034346	0.99044	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569;ENST00000443588	.	.	.	4.88	0.314	0.15847	.	0.758148	0.12069	U	0.502399	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5934	0.61975	0.673:0.327:0.0:0.0	.	.	.	.	X	107	.	ENSP00000361470:Q107X	Q	+	1	0	ASS1	132323753	0.941000	0.31946	0.987000	0.45799	0.848000	0.48234	0.150000	0.16263	0.055000	0.16094	0.650000	0.86243	CAG		0.662	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		11	32	0	0	0	1	0	11	32				
NALCN	259232	broad.mit.edu	37	13	102029375	102029375	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:102029375C>T	ENST00000251127.6	-	5	489	c.408G>A	c.(406-408)atG>atA	p.M136I	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.M136I|NALCN_ENST00000376200.5_Missense_Mutation_p.M136I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	136					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCAAGGTGACATCTGATCAA	0.398																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(406-408)atG>atA		sodium leak channel, non-selective							70.0	68.0	69.0					13																	102029375		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029375C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.408G>A	13.37:g.102029375C>T	ENSP00000251127:p.Met136Ile					NALCN_ENST00000376196.3_Missense_Mutation_p.M136I|NALCN_ENST00000376200.5_Missense_Mutation_p.M136I|NALCN_ENST00000470333.1_5'UTR	p.M136I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			5	489	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		136					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.408G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879006	0.51801	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98135	-4.38;-4.74;-4.1	5.04	5.04	0.67666	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	N	0.08118	0	0.80722	D	1	B;B	0.17852	0.024;0.024	B;B	0.12156	0.007;0.007	D	0.89616	0.3845	10	0.38643	T	0.18	.	18.405	0.90532	0.0:1.0:0.0:0.0	.	136;136	F2Z323;Q8IZF0	.;NALCN_HUMAN	I	136	ENSP00000251127:M136I;ENSP00000365367:M136I;ENSP00000365373:M136I	ENSP00000251127:M136I	M	-	3	0	NALCN	100827376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.330000	0.79161	0.557000	0.71058	ATG		0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		32	69	0	0	0	1	0	32	69				
VPS13B	157680	broad.mit.edu	37	8	100287351	100287351	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:100287351C>G	ENST00000358544.2	+	19	2804	c.2693C>G	c.(2692-2694)cCt>cGt	p.P898R	VPS13B_ENST00000357162.2_Missense_Mutation_p.P898R|VPS13B_ENST00000395996.1_Missense_Mutation_p.P898R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	898					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTCAGGGTCCTTCTGACACT	0.373																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2692-2694)cCt>cGt		vacuolar protein sorting 13 homolog B (yeast)							87.0	85.0	86.0					8																	100287351		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100287351C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2693C>G	8.37:g.100287351C>G	ENSP00000351346:p.Pro898Arg					VPS13B_ENST00000358544.2_Missense_Mutation_p.P898R|VPS13B_ENST00000357162.2_Missense_Mutation_p.P898R	p.P898R			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		19	2804	+	Breast(36;3.73e-07)		898					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2693C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454198	0.84209	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.73469	-0.75;-0.74;-0.43	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.81697	0.4877	L	0.32530	0.975	0.58432	D	0.999997	D;D;D;D	0.89917	0.985;0.985;0.974;1.0	P;P;P;D	0.91635	0.816;0.816;0.66;0.999	D	0.83381	0.0012	10	0.87932	D	0	.	19.5442	0.95284	0.0:1.0:0.0:0.0	.	898;898;898;898	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	R	898	ENSP00000349685:P898R;ENSP00000351346:P898R;ENSP00000379318:P898R	ENSP00000349685:P898R	P	+	2	0	VPS13B	100356527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.179000	0.77665	2.614000	0.88457	0.591000	0.81541	CCT		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		28	65	0	0	0	1	0	28	65				
GULP1	51454	broad.mit.edu	37	2	189406034	189406034	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:189406034A>T	ENST00000409580.1	+	8	1102	c.388A>T	c.(388-390)Agc>Tgc	p.S130C	GULP1_ENST00000359135.3_Missense_Mutation_p.S130C|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000410051.1_Missense_Mutation_p.S130C|GULP1_ENST00000409843.1_Missense_Mutation_p.S130C|GULP1_ENST00000409830.1_Missense_Mutation_p.S130C|GULP1_ENST00000409637.3_Missense_Mutation_p.S130C|GULP1_ENST00000409609.1_Missense_Mutation_p.S130C|GULP1_ENST00000479019.1_3'UTR			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	130	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TGTATTTGACAGCGAAAAGTG	0.343																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(388-390)Agc>Tgc		GULP, engulfment adaptor PTB domain containing 1							125.0	117.0	120.0					2																	189406034		2203	4299	6502	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189406034A>T	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.388A>T	2.37:g.189406034A>T	ENSP00000386289:p.Ser130Cys					GULP1_ENST00000409830.1_Missense_Mutation_p.S130C|GULP1_ENST00000409609.1_Missense_Mutation_p.S130C|GULP1_ENST00000409637.3_Missense_Mutation_p.S130C|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000410051.1_Missense_Mutation_p.S130C|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409843.1_Missense_Mutation_p.S130C|GULP1_ENST00000359135.3_Missense_Mutation_p.S130C	p.S130C			Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		8	1102	+			130			PID.		B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.388A>T	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120542	0.77323	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.72	4.55	0.56014	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.086818	0.85682	D	0.000000	T	0.38799	0.1054	L	0.60012	1.86	0.80722	D	1	D;P;B	0.89917	1.0;0.937;0.015	D;D;B	0.79108	0.992;0.944;0.015	T	0.07673	-1.0760	10	0.25751	T	0.34	-7.0106	11.6902	0.51510	0.8673:0.0:0.0:0.1326	.	130;130;130	Q9UBP9;B8ZZ72;Q9UBP9-2	GULP1_HUMAN;.;.	C	130	ENSP00000387144:S130C;ENSP00000386732:S130C;ENSP00000387013:S130C;ENSP00000352047:S130C;ENSP00000386289:S130C;ENSP00000386402:S130C;ENSP00000386867:S130C	ENSP00000352047:S130C	S	+	1	0	GULP1	189114279	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.265000	0.95647	1.076000	0.40961	-0.341000	0.08007	AGC		0.343	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		38	95	0	0	0	1	0	38	95				
ANO8	57719	broad.mit.edu	37	19	17436109	17436109	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:17436109G>A	ENST00000159087.4	-	17	2906	c.2748C>T	c.(2746-2748)caC>caT	p.H916H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	916					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCCGGGCATGGTGCTCTGCAT	0.697																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2746-2748)caC>caT		anoctamin 8							27.0	29.0	28.0					19																	17436109		2201	4297	6498	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17436109G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2748C>T	19.37:g.17436109G>A							p.H916H	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			17	2906	-			916					A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.2748C>T	CCDS32949.1																																																																																				0.697	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		12	37	0	0	0	1	0	12	37				
PAPD7	11044	broad.mit.edu	37	5	6742679	6742679	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:6742679G>A	ENST00000230859.6	+	5	464	c.335G>A	c.(334-336)cGg>cAg	p.R112Q		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	342	Ser-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACGGGCGTCCGGGCAGCGGAG	0.478																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(334-336)cGg>cAg		PAP associated domain containing 7							80.0	78.0	78.0					5																	6742679		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6742679G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.335G>A	5.37:g.6742679G>A	ENSP00000230859:p.Arg112Gln						p.R112Q	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			5	464	+			112					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.335G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269035	0.59540	.	.	ENSG00000112941	ENST00000230859	T	0.51817	0.69	5.39	4.4	0.53042	Nucleotidyl transferase domain (1);	0.111023	0.64402	D	0.000012	T	0.16557	0.0398	N	0.01515	-0.825	0.47441	D	0.99942	B;B	0.12630	0.006;0.006	B;B	0.15484	0.013;0.013	T	0.15954	-1.0419	10	0.22109	T	0.4	.	3.9954	0.09556	0.2593:0.0:0.7407:0.0	.	112;112	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	Q	112	ENSP00000230859:R112Q	ENSP00000230859:R112Q	R	+	2	0	PAPD7	6795679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.722000	0.74735	2.525000	0.85131	0.655000	0.94253	CGG		0.478	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		23	62	0	0	0	1	0	23	62				
GABRG3	2567	broad.mit.edu	37	15	27772658	27772658	+	Silent	SNP	C	C	A	rs370950953	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:27772658C>A	ENST00000333743.6	+	8	1199	c.945C>A	c.(943-945)gcC>gcA	p.A315A	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	315					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACGTGACCGCCATGGACCTTT	0.567																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(943-945)gcC>gcA		gamma-aminobutyric acid (GABA) A receptor, gamma 3							134.0	126.0	129.0					15																	27772658		2184	4285	6469	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772658C>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.945C>A	15.37:g.27772658C>A						RP11-100M12.3_ENST00000556642.1_RNA	p.A315A	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1199	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	315					G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.945C>A	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360996	0.24684	.	.	ENSG00000182256	ENST00000451330	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	T	0.69214	0.3086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67457	-0.5666	4	.	.	.	.	13.6922	0.62553	0.0:0.9236:0.0:0.0764	.	.	.	.	Q	78	.	.	P	+	2	0	GABRG3	25446253	0.999000	0.42202	1.000000	0.80357	0.926000	0.56050	0.714000	0.25808	2.562000	0.86427	0.563000	0.77884	CCA		0.567	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			15	51	1	0	2.31682e-05	1	2.44979e-05	15	51				
IGHV2-70	28454	broad.mit.edu	37	14	107178905	107178905	+	RNA	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:107178905G>T	ENST00000390634.2	-	0	347									immunoglobulin heavy variable 2-70																		GGTGTCCTTGGAGATGGTGAG	0.517																																						ENST00000390634.2																			0																				250.0	188.0	209.0					14																	107178905		2065	4192	6257			28454							g.chr14:107178905G>T	L21969		14q32.33	2012-02-08			ENSG00000211974	ENSG00000211974		"""Immunoglobulins / IGH locus"""	5577	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151870		14.37:g.107178905G>T														0	347	-									RNA	SNP	ENST00000390634.2	37																																																																																						0.517	IGHV2-70-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324215.1	NG_001019		37	187	1	0	4.32679e-17	1	5.13807e-17	37	187				
TRMT1	55621	broad.mit.edu	37	19	13220449	13220449	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:13220449C>T	ENST00000592062.1	-	12	1796	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D	TRMT1_ENST00000221504.8_Missense_Mutation_p.G380D|TRMT1_ENST00000437766.1_Missense_Mutation_p.G409D|TRMT1_ENST00000357720.4_Missense_Mutation_p.G409D			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	409	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CAGGACACGGCCCACAAAATC	0.652																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1225-1227)gGc>gAc		tRNA methyltransferase 1 homolog (S. cerevisiae)							48.0	51.0	50.0					19																	13220449		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220449C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1226G>A	19.37:g.13220449C>T	ENSP00000466967:p.Gly409Asp					TRMT1_ENST00000357720.4_Missense_Mutation_p.G409D|TRMT1_ENST00000221504.8_Missense_Mutation_p.G380D|TRMT1_ENST00000437766.1_Missense_Mutation_p.G409D	p.G409D			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	12	1796	-			409					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1226G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282485	0.23392	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.76	4.76	0.60689	.	0.287399	0.35495	N	0.003166	T	0.31263	0.0791	N	0.16201	0.385	0.39169	D	0.962553	B;B	0.13594	0.008;0.007	B;B	0.19666	0.026;0.026	T	0.18178	-1.0345	9	0.12766	T	0.61	-26.0965	9.0037	0.36097	0.0:0.8983:0.0:0.1017	.	380;409	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	D	409;409;380	.	ENSP00000221504:G380D	G	-	2	0	TRMT1	13081449	0.060000	0.20803	0.972000	0.41901	0.767000	0.43475	2.258000	0.43249	2.199000	0.70637	0.462000	0.41574	GGC		0.652	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		12	53	0	0	0	1	0	12	53				
ZNF549	256051	broad.mit.edu	37	19	58049439	58049439	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:58049439C>T	ENST00000376233.3	+	4	1248	c.1067C>T	c.(1066-1068)aCt>aTt	p.T356I	ZNF549_ENST00000240719.3_Missense_Mutation_p.T343I|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	356					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(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAATCCACACTGGAGAGAGG	0.443																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1066-1068)aCt>aTt		zinc finger protein 549							80.0	76.0	78.0					19																	58049439		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049439C>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1067C>T	19.37:g.58049439C>T	ENSP00000365407:p.Thr356Ile					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T343I|ZNF549_ENST00000594943.1_Intron	p.T356I	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1248	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	356					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1067C>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498402	0.26861	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.25749	1.78;1.78	2.49	-3.72	0.04411	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45155	0.1328	M	0.80982	2.52	0.23016	N	0.998429	P;D	0.63046	0.942;0.992	P;D	0.71656	0.555;0.974	T	0.41448	-0.9508	9	0.87932	D	0	.	7.7982	0.29160	0.0:0.4496:0.4397:0.1107	.	356;343	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	I	343;356	ENSP00000240719:T343I;ENSP00000365407:T356I	ENSP00000240719:T343I	T	+	2	0	ZNF549	62741251	0.000000	0.05858	0.043000	0.18650	0.208000	0.24298	-0.005000	0.12855	-0.169000	0.10834	-0.291000	0.09656	ACT		0.443	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		29	56	0	0	0	1	0	29	56				
ITPR1	3708	broad.mit.edu	37	3	4715055	4715055	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:4715055G>A	ENST00000443694.2	+	18	2395	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.E814K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E814K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E799K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E799K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E814K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	814					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)	GATTCCCTCGGAGATCGCCAT	0.522																																						ENST00000302640.8																			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.(2395-2397)Gag>Aag		inositol 1,4,5-trisphosphate receptor, type 1							105.0	108.0	107.0					3																	4715055		1953	4138	6091	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.chr3:4715055G>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.2395G>A	3.37:g.4715055G>A	ENSP00000401671:p.Glu799Lys					ITPR1_ENST00000423119.2_Missense_Mutation_p.E814K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E814K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E799K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E814K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E799K	p.E799K	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	20	2745	+			814					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2395G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	2.125	-0.400586	0.04865	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	4.98	4.1	0.47936	.	0.093189	0.64402	D	0.000001	T	0.67449	0.2894	N	0.00413	-1.525	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.69018	-0.5256	10	0.02654	T	1	.	13.2979	0.60307	0.0776:0.0:0.9224:0.0	.	799;814;814	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	K	814;799;814;814;814;799;799	ENSP00000306253:E799K;ENSP00000346595:E814K;ENSP00000405934:E814K;ENSP00000349597:E814K;ENSP00000397885:E799K;ENSP00000401671:E799K	ENSP00000306253:E799K	E	+	1	0	ITPR1	4690055	1.000000	0.71417	0.780000	0.31762	0.486000	0.33341	4.003000	0.57061	1.442000	0.47568	0.491000	0.48974	GAG		0.522	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		30	106	0	0	0	1	0	30	106				
CACNG2	10369	broad.mit.edu	37	22	36960515	36960515	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:36960515G>A	ENST00000300105.6	-	4	1836	c.855C>T	c.(853-855)acC>acT	p.T285T	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	285					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTAGGTGGCGGTGGGCGTGG	0.607																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(853-855)acC>acT		calcium channel, voltage-dependent, gamma subunit 2							66.0	63.0	64.0					22																	36960515		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960515G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.855C>T	22.37:g.36960515G>A							p.T285T	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1836	-			285					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.855C>T	CCDS13931.1																																																																																				0.607	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			4	108	0	0	0	1	0	4	108				
EAF1	85403	broad.mit.edu	37	3	15478027	15478027	+	Silent	SNP	C	C	T	rs367835501		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:15478027C>T	ENST00000396842.2	+	5	1130	c.705C>T	c.(703-705)gcC>gcT	p.A235A	EAF1-AS1_ENST00000595975.1_RNA|EAF1-AS1_ENST00000494875.3_RNA|EAF1-AS1_ENST00000593876.1_RNA|EAF1-AS1_ENST00000608780.1_RNA|EAF1_ENST00000432764.2_Silent_p.A134A|EAF1-AS1_ENST00000597949.1_RNA|EAF1-AS1_ENST00000595627.1_RNA|EAF1-AS1_ENST00000609310.1_RNA|EAF1-AS1_ENST00000596371.1_RNA|EAF1-AS1_ENST00000594820.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	235	Necessary for transactivation activity.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GTAGGCCTGCCGTTGCCAATG	0.577																																						ENST00000396842.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						c.(703-705)gcC>gcT		ELL associated factor 1		C		1,4373		0,1,2186	59.0	52.0	54.0		705	-5.8	0.0	3		54	1,8539		0,1,4269	no	coding-synonymous	EAF1	NM_033083.6		0,2,6455	TT,TC,CC		0.0117,0.0229,0.0155		235/269	15478027	2,12912	2187	4270	6457	SO:0001819	synonymous_variant	85403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding	g.chr3:15478027C>T	AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.705C>T	3.37:g.15478027C>T						EAF1_ENST00000432764.2_Silent_p.A134A|EAF1-AS1_ENST00000597949.1_RNA	p.A235A	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN			5	1130	+			235			Necessary for transactivation activity.		B4E3F5|Q8IW10	Silent	SNP	ENST00000396842.2	37	c.705C>T	CCDS2626.1																																																																																				0.577	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252100.4	NM_033083		17	79	0	0	0	1	0	17	79				
TTC21A	199223	broad.mit.edu	37	3	39180235	39180235	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:39180235A>T	ENST00000431162.2	+	29	4053	c.3919A>T	c.(3919-3921)Agg>Tgg	p.R1307W	TTC21A_ENST00000301819.6_Missense_Mutation_p.R1308W|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1259W|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1307										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCCAAGATCAGGGAGGAAAT	0.572																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3922-3924)Agg>Tgg		tetratricopeptide repeat domain 21A							78.0	76.0	76.0					3																	39180235		1898	4102	6000	SO:0001583	missense	199223						binding	g.chr3:39180235A>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3919A>T	3.37:g.39180235A>T	ENSP00000398211:p.Arg1307Trp					TTC21A_ENST00000431162.2_Missense_Mutation_p.R1307W|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1259W	p.R1308W	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	29	4099	+			1307					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3922A>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.849549	0.71603	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.66638	-0.22;-0.21;-0.09	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);	0.178025	0.42682	D	0.000662	T	0.81226	0.4778	M	0.84326	2.69	0.39412	D	0.966761	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.975;0.945	D	0.84545	0.0641	10	0.87932	D	0	-14.8962	10.3659	0.44024	0.8354:0.1646:0.0:0.0	.	1259;1308;1307	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	W	1308;1290;1307;1259	ENSP00000301819:R1308W;ENSP00000398211:R1307W;ENSP00000410882:R1259W	ENSP00000301819:R1308W	R	+	1	2	TTC21A	39155239	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	2.707000	0.47143	1.994000	0.58287	0.459000	0.35465	AGG		0.572	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		15	77	0	0	0	1	0	15	77				
MTO1	25821	broad.mit.edu	37	6	74207459	74207459	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:74207459C>T	ENST00000370300.4	+	12	1922	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	MTO1_ENST00000370305.1_Splice_Site_p.A537V|MTO1_ENST00000498286.1_Splice_Site_p.A586V|MTO1_ENST00000415954.2_Splice_Site_p.A626V	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	611					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGTTGACCAGCCACTTATGAA	0.333																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.e11-1		mitochondrial tRNA translation optimization 1							76.0	82.0	80.0					6																	74207459		2203	4300	6503	SO:0001630	splice_region_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74207459C>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1832-1C>T	6.37:g.74207459C>T						MTO1_ENST00000370305.1_Splice_Site_p.A537_splice|MTO1_ENST00000415954.2_Splice_Site_p.A626_splice|MTO1_ENST00000370300.4_Splice_Site_p.A611_splice	p.A586_splice			Q9Y2Z2	MTO1_HUMAN			11	2034	+			611	LA -> CT (in Ref. 1; AAL35894).				B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Splice_Site	SNP	ENST00000370300.4	37	c.1756_splice	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712225	0.89112	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	L	0.48986	1.54	0.58432	D	0.999992	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.83275	0.982;0.996;0.982;0.99	T	0.66244	-0.5972	8	.	.	.	.	17.6903	0.88267	0.0:1.0:0.0:0.0	.	626;489;586;611	Q9Y2Z2-6;Q9Y2Z2-2;Q9Y2Z2-4;Q9Y2Z2	.;.;.;MTO1_HUMAN	V	626;586;489;537;611	.	.	A	+	2	0	MTO1	74264180	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	2.928000	0.48908	2.712000	0.92718	0.579000	0.79373	GCC		0.333	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123	Missense_Mutation	11	72	0	0	0	1	0	11	72				
FAM179B	23116	broad.mit.edu	37	14	45431658	45431658	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:45431658C>T	ENST00000361577.3	+	1	248	c.34C>T	c.(34-36)Ccg>Tcg	p.P12S	KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.P12S|FAM179B_ENST00000382233.2_Missense_Mutation_p.P12S|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	12										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTCTGCTGCCGCCCTTTCC	0.612																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(34-36)Ccg>Tcg		family with sequence similarity 179, member B							21.0	23.0	22.0					14																	45431658		2199	4298	6497	SO:0001583	missense	23116						binding	g.chr14:45431658C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.34C>T	14.37:g.45431658C>T	ENSP00000355045:p.Pro12Ser					FAM179B_ENST00000382233.2_Missense_Mutation_p.P12S|FAM179B_ENST00000361577.3_Missense_Mutation_p.P12S	p.P12S			Q9Y4F4	F179B_HUMAN			1	217	+			12					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.34C>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536325	0.45176	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.36878	2.41;2.4;1.23	4.88	2.97	0.34412	.	0.320112	0.22814	N	0.055311	T	0.21509	0.0518	N	0.19112	0.55	0.21105	N	0.999781	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.002;0.006;0.006;0.003	T	0.15065	-1.0450	10	0.59425	D	0.04	-0.5083	6.7123	0.23284	0.0:0.7239:0.1787:0.0974	.	12;12;12;12	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	S	12	ENSP00000355045:P12S;ENSP00000354917:P12S;ENSP00000371668:P12S	ENSP00000354917:P12S	P	+	1	0	FAM179B	44501408	0.972000	0.33761	0.799000	0.32177	0.756000	0.42949	3.252000	0.51461	1.281000	0.44480	0.655000	0.94253	CCG		0.612	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		5	28	0	0	0	1	0	5	28				
TTC27	55622	broad.mit.edu	37	2	32855702	32855702	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:32855702T>C	ENST00000317907.4	+	2	432	c.201T>C	c.(199-201)gaT>gaC	p.D67D		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	67										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AAAAGATTGATAGCTACCTGG	0.348																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(199-201)gaT>gaC		tetratricopeptide repeat domain 27							58.0	61.0	60.0					2																	32855702		2203	4300	6503	SO:0001819	synonymous_variant	55622						protein binding	g.chr2:32855702T>C	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.201T>C	2.37:g.32855702T>C							p.D67D	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			2	432	+			67					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	c.201T>C	CCDS33176.1																																																																																				0.348	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		28	67	0	0	0	1	0	28	67				
ZFHX4	79776	broad.mit.edu	37	8	77766624	77766624	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:77766624G>T	ENST00000521891.2	+	10	7915	c.7467G>T	c.(7465-7467)caG>caT	p.Q2489H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2463H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2444H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2444H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACCTCCACAGTTACTACAAT	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7465-7467)caG>caT		zinc finger homeobox 4							144.0	162.0	156.0					8																	77766624		2050	4200	6250	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766624G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7467G>T	8.37:g.77766624G>T	ENSP00000430497:p.Gln2489His	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2444H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2444H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2463H	p.Q2489H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7915	+			2444					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7467G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892521	0.33442	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55234	0.53;0.58;0.55;0.55	5.18	3.39	0.38822	.	0.000000	0.42294	U	0.000722	T	0.66177	0.2763	M	0.68952	2.095	0.54753	D	0.999984	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.79108	0.983;0.992;0.992	T	0.65344	-0.6191	10	0.56958	D	0.05	.	8.674	0.34167	0.2301:0.0:0.7699:0.0	.	2444;2444;2489	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2489;2473;2444;2444;2463	ENSP00000430497:Q2489H;ENSP00000399605:Q2444H;ENSP00000050961:Q2444H;ENSP00000430848:Q2463H	ENSP00000050961:Q2444H	Q	+	3	2	ZFHX4	77929179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.618000	0.46393	0.756000	0.33013	0.650000	0.86243	CAG		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		33	60	1	0	4.3181e-19	1	5.24033e-19	33	60				
AP2B1	163	broad.mit.edu	37	17	33977578	33977578	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:33977578G>C	ENST00000262325.7	+	13	2119	c.1566G>C	c.(1564-1566)cgG>cgC	p.R522R	AP2B1_ENST00000312678.8_Silent_p.R522R|AP2B1_ENST00000592545.1_Silent_p.R484R|AP2B1_ENST00000538556.1_Silent_p.R465R|AP2B1_ENST00000589344.1_Silent_p.R522R|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.R522R	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	522					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTCGAGACCGGGGCTATATTT	0.458																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1564-1566)cgG>cgC		adaptor-related protein complex 2, beta 1 subunit							138.0	135.0	136.0					17																	33977578		2203	4300	6503	SO:0001819	synonymous_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33977578G>C	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1566G>C	17.37:g.33977578G>C						AP2B1_ENST00000592545.1_Silent_p.R484R|AP2B1_ENST00000589344.1_Silent_p.R522R|AP2B1_ENST00000538556.1_Silent_p.R465R|AP2B1_ENST00000537622.2_Silent_p.R522R|AP2B1_ENST00000312678.8_Silent_p.R522R|AP2B1_ENST00000545922.2_3'UTR	p.R522R	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	13	2119	+		Ovarian(249;0.17)	522					A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.1566G>C	CCDS32622.1																																																																																				0.458	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			43	95	0	0	0	1	0	43	95				
LPXN	9404	broad.mit.edu	37	11	58317311	58317311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:58317311C>T	ENST00000395074.2	-	7	778	c.690G>A	c.(688-690)tgG>tgA	p.W230*	LPXN_ENST00000528954.1_Nonsense_Mutation_p.W235*|LPXN_ENST00000528489.1_Nonsense_Mutation_p.W210*	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	230	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCTCTGGGTGCCAGGTCTGGT	0.488																																						ENST00000528954.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(703-705)tgG>tgA		leupaxin							98.0	82.0	87.0					11																	58317311		2201	4295	6496	SO:0001587	stop_gained	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58317311C>T	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.690G>A	11.37:g.58317311C>T	ENSP00000378512:p.Trp230*					LPXN_ENST00000528489.1_Nonsense_Mutation_p.W210*|LPXN_ENST00000395074.2_Nonsense_Mutation_p.W230*	p.W235*	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN			7	824	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	230			LIM zinc-binding 2.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Nonsense_Mutation	SNP	ENST00000395074.2	37	c.705G>A	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	C	38	7.152901	0.98099	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1646	0.93551	0.0:1.0:0.0:0.0	.	.	.	.	X	235;230	.	ENSP00000378512:W230X	W	-	3	0	LPXN	58073887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.824000	0.97209	0.655000	0.94253	TGG		0.488	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		10	46	0	0	0	1	0	10	46				
NXPH2	11249	broad.mit.edu	37	2	139429085	139429085	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:139429085G>A	ENST00000272641.3	-	2	308	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	68	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATGGGGCCGGGCTTGGGCACC	0.562																																						ENST00000272641.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22						c.(202-204)Ccc>Tcc		neurexophilin 2							114.0	113.0	113.0					2																	139429085		1922	4134	6056	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429085G>A	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.202C>T	2.37:g.139429085G>A	ENSP00000272641:p.Pro68Ser						p.P68S	NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	308	-			68			II.		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.202C>T	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	G	9.706	1.155736	0.21454	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	4.38	0.52667	.	0.267963	0.42172	N	0.000755	T	0.26666	0.0652	N	0.08118	0	0.32171	N	0.581615	B	0.02656	0.0	B	0.06405	0.002	T	0.19451	-1.0305	8	.	.	.	-7.4552	12.9792	0.58554	0.1299:0.0:0.8701:0.0	.	68	O95156	NXPH2_HUMAN	S	68	.	.	P	-	1	0	NXPH2	139145555	1.000000	0.71417	0.975000	0.42487	0.909000	0.53808	2.526000	0.45607	0.938000	0.37419	0.655000	0.94253	CCC		0.562	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			12	150	0	0	0	1	0	12	150				
COL16A1	1307	broad.mit.edu	37	1	32119209	32119209	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:32119209C>A	ENST00000373672.3	-	70	5119	c.4603G>T	c.(4603-4605)Ggc>Tgc	p.G1535C	RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.G1535C|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000610216.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1535	Collagen-like 8.|Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCTGGGGGGCCGGGAAGACCA	0.458																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(4603-4605)Ggc>Tgc		collagen, type XVI, alpha 1							59.0	60.0	60.0					1																	32119209		1880	4111	5991	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32119209C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4603G>T	1.37:g.32119209C>A	ENSP00000362776:p.Gly1535Cys					RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.G1535C|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|COL16A1_ENST00000461217.1_5'UTR	p.G1535C	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	70	5119	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1535			Triple-helical region 1 (COL1) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.4603G>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733717	0.89482	.	.	ENSG00000084636	ENST00000373672;ENST00000271069	D;D	0.99369	-5.78;-5.78	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97735	1.0205	10	0.87932	D	0	.	18.0071	0.89212	0.0:1.0:0.0:0.0	.	1535;1533	Q07092;Q07092-2	COGA1_HUMAN;.	C	1535	ENSP00000362776:G1535C;ENSP00000271069:G1535C	ENSP00000271069:G1535C	G	-	1	0	COL16A1	31891796	1.000000	0.71417	0.845000	0.33349	0.922000	0.55478	6.477000	0.73591	2.636000	0.89361	0.561000	0.74099	GGC		0.458	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		21	37	1	0	1.66031e-10	1	1.85564e-10	21	37				
SEMA4A	64218	broad.mit.edu	37	1	156132738	156132738	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:156132738G>A	ENST00000368285.3	+	10	1254	c.987G>A	c.(985-987)caG>caA	p.Q329Q	SEMA4A_ENST00000368284.1_Silent_p.Q197Q|SEMA4A_ENST00000368282.1_Silent_p.Q329Q|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.Q329Q|SEMA4A_ENST00000368286.2_Silent_p.Q197Q	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	329	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTCCAGGCAGGTTGGCGGGA	0.532																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.(985-987)caG>caA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							86.0	84.0	84.0					1																	156132738		2203	4300	6503	SO:0001819	synonymous_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156132738G>A	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.987G>A	1.37:g.156132738G>A						SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.Q329Q|SEMA4A_ENST00000368284.1_Silent_p.Q197Q|SEMA4A_ENST00000368286.2_Silent_p.Q197Q|SEMA4A_ENST00000355014.2_Silent_p.Q329Q	p.Q329Q	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			10	1254	+	Hepatocellular(266;0.158)		329			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	c.987G>A	CCDS1132.1																																																																																				0.532	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		21	99	0	0	0	1	0	21	99				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	213	0	0	0	1	0	5	213				
SPANXN3	139067	broad.mit.edu	37	X	142605193	142605193	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:142605193A>G	ENST00000370503.2	-	1	110	c.27T>C	c.(25-27)aaT>aaC	p.N9N	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	9										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCTCCCCATTGGTGCTGG	0.443																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(25-27)aaT>aaC		SPANX family, member N3							270.0	236.0	248.0					X																	142605193		2203	4300	6503	SO:0001819	synonymous_variant	139067							g.chrX:142605193A>G		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.27T>C	X.37:g.142605193A>G							p.N9N	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	110	-	Acute lymphoblastic leukemia(192;6.56e-05)		9					Q0ZNK4	Silent	SNP	ENST00000370503.2	37	c.27T>C	CCDS35418.1																																																																																				0.443	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		93	144	0	0	0	1	0	93	144				
WDR88	126248	broad.mit.edu	37	19	33623337	33623337	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:33623337G>A	ENST00000355868.3	+	1	338	c.262G>A	c.(262-264)Gac>Aac	p.D88N	WDR88_ENST00000361680.2_Missense_Mutation_p.D88N|WDR88_ENST00000592765.1_Missense_Mutation_p.D88N	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	88										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGGCGACCAGGACCCTCTCTC	0.657																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(262-264)Gac>Aac		WD repeat domain 88							40.0	42.0	41.0					19																	33623337		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33623337G>A	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.262G>A	19.37:g.33623337G>A	ENSP00000348129:p.Asp88Asn					WDR88_ENST00000355868.3_Missense_Mutation_p.D88N|WDR88_ENST00000592765.1_Missense_Mutation_p.D88N	p.D88N			Q6ZMY6	WDR88_HUMAN			1	340	+	Esophageal squamous(110;0.137)		88					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.262G>A	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503693	0.26949	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.61742	0.4;0.08	3.68	1.36	0.22044	.	60.201900	0.00550	U	0.000251	T	0.44307	0.1287	N	0.14661	0.345	0.09310	N	0.999999	B	0.25105	0.118	B	0.20767	0.031	T	0.42241	-0.9463	10	0.59425	D	0.04	.	9.7542	0.40494	0.0:0.3915:0.6085:0.0	.	88	Q6ZMY6	WDR88_HUMAN	N	88	ENSP00000348129:D88N;ENSP00000355148:D88N	ENSP00000348129:D88N	D	+	1	0	WDR88	38315177	0.999000	0.42202	0.974000	0.42286	0.262000	0.26303	1.950000	0.40323	0.314000	0.23086	0.298000	0.19748	GAC		0.657	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		26	28	0	0	0	1	0	26	28				
LAMA1	284217	broad.mit.edu	37	18	7012056	7012056	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:7012056G>C	ENST00000389658.3	-	24	3538	c.3445C>G	c.(3445-3447)Ccg>Gcg	p.P1149A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1149	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGAAGCACGGGCTGCAGCCC	0.572																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3445-3447)Ccg>Gcg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						37.0	33.0	34.0					18																	7012056		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7012056G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3445C>G	18.37:g.7012056G>C	ENSP00000374309:p.Pro1149Ala						p.P1149A	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			24	3538	-		Colorectal(10;0.172)	1149			Laminin EGF-like 13.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3445C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425377	0.43020	.	.	ENSG00000101680	ENST00000389658	T	0.16324	2.35	5.63	3.85	0.44370	EGF-like, laminin (2);	0.072607	0.56097	D	0.000031	T	0.32164	0.0820	M	0.63169	1.94	0.09310	N	0.999993	D	0.63880	0.993	P	0.61328	0.887	T	0.14615	-1.0466	10	0.22109	T	0.4	.	12.7627	0.57374	0.0:0.1254:0.7439:0.1307	.	1149	P25391	LAMA1_HUMAN	A	1149	ENSP00000374309:P1149A	ENSP00000374309:P1149A	P	-	1	0	LAMA1	7002056	1.000000	0.71417	0.002000	0.10522	0.269000	0.26545	4.122000	0.57910	0.727000	0.32360	0.637000	0.83480	CCG		0.572	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		17	38	0	0	0	1	0	17	38				
TMEM2	23670	broad.mit.edu	37	9	74313120	74313120	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:74313120C>T	ENST00000377044.4	-	20	3917	c.3378G>A	c.(3376-3378)ggG>ggA	p.G1126G	TMEM2_ENST00000396272.3_Splice_Site_p.G119G|TMEM2_ENST00000377066.5_Splice_Site_p.G1063G	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1126					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AAAACAGTAACCTGCACAAAA	0.408																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.e20-1		transmembrane protein 2							106.0	91.0	96.0					9																	74313120		2203	4300	6503	SO:0001630	splice_region_variant	23670					integral to membrane		g.chr9:74313120C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3378-1G>A	9.37:g.74313120C>T						TMEM2_ENST00000377066.5_Splice_Site_p.G1063_splice|TMEM2_ENST00000396272.3_Splice_Site_p.G119_splice	p.G1126_splice	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	20	3917	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1126					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Splice_Site	SNP	ENST00000377044.4	37	c.3377_splice	CCDS6638.1																																																																																				0.408	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	Silent	19	90	0	0	0	1	0	19	90				
MICALL1	85377	broad.mit.edu	37	22	38327856	38327856	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:38327856C>T	ENST00000215957.6	+	10	2058	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	644	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CTGCAGCGTCCCCAGCCACAA	0.587																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1930-1932)tcC>tcT		MICAL-like 1							88.0	89.0	88.0					22																	38327856		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38327856C>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1932C>T	22.37:g.38327856C>T						MICALL1_ENST00000402631.1_3'UTR	p.S644S	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			10	2058	+	Melanoma(58;0.045)		644			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.1932C>T	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	8.383	0.838018	0.16891	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.55	2.03	0.26663	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28138	-1.0053	4	.	.	.	.	1.6986	0.02867	0.1687:0.4779:0.1641:0.1892	.	.	.	.	S	220	.	.	P	+	1	0	MICALL1	36657802	1.000000	0.71417	0.989000	0.46669	0.645000	0.38454	0.947000	0.29082	0.592000	0.29728	0.591000	0.81541	CCC		0.587	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		14	141	0	0	0	1	0	14	141				
CRNKL1	51340	broad.mit.edu	37	20	20029145	20029145	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:20029145C>T	ENST00000377340.2	-	5	811	c.780G>A	c.(778-780)agG>agA	p.R260R	CRNKL1_ENST00000377327.4_Splice_Site_p.R248R|CRNKL1_ENST00000536226.1_Splice_Site_p.R99R	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	260					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGGATCGAGCCCTTAAGAAGC	0.398																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.e5-1		crooked neck pre-mRNA splicing factor 1							92.0	85.0	87.0					20																	20029145		2203	4300	6503	SO:0001630	splice_region_variant	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20029145C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.780-1G>A	20.37:g.20029145C>T						CRNKL1_ENST00000536226.1_Splice_Site_p.R99_splice|CRNKL1_ENST00000377327.4_Splice_Site_p.R248_splice	p.R260_splice	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			5	811	-			260					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Splice_Site	SNP	ENST00000377340.2	37	c.779_splice	CCDS33446.1																																																																																				0.398	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		Silent	14	34	0	0	0	1	0	14	34				
SPATA31E1	286234	broad.mit.edu	37	9	90501498	90501498	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:90501498C>G	ENST00000325643.5	+	4	2162	c.2096C>G	c.(2095-2097)tCc>tGc	p.S699C		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	699					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCAGGAGCTCCGGAAGGTTC	0.597																																						ENST00000325643.5																			0											c.(2095-2097)tCc>tGc		SPATA31 subfamily E, member 1							53.0	68.0	63.0					9																	90501498		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90501498C>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2096C>G	9.37:g.90501498C>G	ENSP00000322640:p.Ser699Cys						p.S699C	NM_178828.4	NP_849150.3					4	2162	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2096C>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.667747	0.29604	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.10288	2.89	2.65	-3.54	0.04653	.	11.776800	0.00166	N	0.000005	T	0.08582	0.0213	L	0.43923	1.385	0.09310	N	1	P;B	0.42941	0.794;0.34	B;B	0.35770	0.21;0.038	T	0.25572	-1.0128	10	0.52906	T	0.07	.	3.3656	0.07202	0.5087:0.2584:0.0:0.2329	.	699;351	Q6ZUB1;Q8NA33	CI079_HUMAN;.	C	699;351	ENSP00000322640:S699C	ENSP00000322640:S699C	S	+	2	0	C9orf79	89691318	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.088000	0.11198	-0.928000	0.03761	0.557000	0.71058	TCC		0.597	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		23	76	0	0	0	1	0	23	76				
MUT	4594	broad.mit.edu	37	6	49416584	49416584	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:49416584T>C	ENST00000274813.3	-	7	1516	c.1389A>G	c.(1387-1389)atA>atG	p.I463M		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	463					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGTTTAGGTATTCCCTCAG	0.323																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1387-1389)atA>atG		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						146.0	144.0	145.0					6																	49416584		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49416584T>C		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1389A>G	6.37:g.49416584T>C	ENSP00000274813:p.Ile463Met						p.I463M	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			7	1516	-	Lung NSC(77;0.0376)		463					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1389A>G	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	T	9.436	1.086920	0.20390	.	.	ENSG00000146085	ENST00000274813	D	0.98345	-4.88	5.75	-0.853	0.10709	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.097716	0.64402	D	0.000002	D	0.82751	0.5105	N	0.02916	-0.46	0.58432	D	0.999996	B	0.22276	0.067	B	0.31101	0.124	T	0.74408	-0.3675	10	0.09084	T	0.74	-4.5185	2.6229	0.04921	0.2891:0.0771:0.427:0.2068	.	463	P22033	MUTA_HUMAN	M	463	ENSP00000274813:I463M	ENSP00000274813:I463M	I	-	3	3	MUT	49524543	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.294000	0.19047	0.409000	0.25649	0.528000	0.53228	ATA		0.323	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			55	131	0	0	0	1	0	55	131				
FAM110B	90362	broad.mit.edu	37	8	59058805	59058805	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:59058805C>G	ENST00000361488.3	+	5	896	c.16C>G	c.(16-18)Cta>Gta	p.L6V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	6						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CACGGAGACCCTACAGACAGG	0.627																																						ENST00000361488.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(16-18)Cta>Gta		family with sequence similarity 110, member B							31.0	30.0	30.0					8																	59058805		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59058805C>G	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.16C>G	8.37:g.59058805C>G	ENSP00000355204:p.Leu6Val					FAM110B_ENST00000520369.1_Intron	p.L6V	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	896	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	6					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.16C>G	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830926	0.71258	.	.	ENSG00000169122	ENST00000361488	T	0.48836	0.8	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000008	T	0.49490	0.1560	N	0.24115	0.695	0.58432	D	0.999999	D	0.60160	0.987	P	0.61070	0.883	T	0.42548	-0.9445	9	.	.	.	-1.0478	13.6464	0.62283	0.0:0.9224:0.0:0.0776	.	6	Q8TC76	F110B_HUMAN	V	6	ENSP00000355204:L6V	.	L	+	1	2	FAM110B	59221359	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	4.830000	0.62745	2.312000	0.78011	0.313000	0.20887	CTA		0.627	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		5	25	0	0	0	1	0	5	25				
PIWIL1	9271	broad.mit.edu	37	12	130841546	130841546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:130841546G>A	ENST00000245255.3	+	13	1760	c.1488G>A	c.(1486-1488)tgG>tgA	p.W496*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	496					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)		TAGATAACTGGCTGTTGATCT	0.368																																						ENST00000245255.3																			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.(1486-1488)tgG>tgA		piwi-like RNA-mediated gene silencing 1							100.0	96.0	97.0					12																	130841546		2203	4300	6503	SO:0001587	stop_gained	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.chr12:130841546G>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.1488G>A	12.37:g.130841546G>A	ENSP00000245255:p.Trp496*						p.W496*	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	13	1760	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		496					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	ENST00000245255.3	37	c.1488G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	41	8.942803	0.99012	.	.	ENSG00000125207	ENST00000245255	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2006	18.1752	0.89759	0.0:0.0:1.0:0.0	.	.	.	.	X	496	.	ENSP00000245255:W496X	W	+	3	0	PIWIL1	129407499	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.568000	0.98166	2.512000	0.84698	0.655000	0.94253	TGG		0.368	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			31	62	0	0	0	1	0	31	62				
DCAF15	90379	broad.mit.edu	37	19	14067054	14067054	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:14067054A>G	ENST00000254337.6	+	5	614	c.593A>G	c.(592-594)gAt>gGt	p.D198G	PODNL1_ENST00000588317.1_5'Flank|PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000538517.2_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	198					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCTTGCCAGGATGCCAGCCGA	0.667																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(592-594)gAt>gGt		DDB1 and CUL4 associated factor 15							29.0	27.0	28.0					19																	14067054		2201	4298	6499	SO:0001583	missense	90379							g.chr19:14067054A>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.593A>G	19.37:g.14067054A>G	ENSP00000254337:p.Asp198Gly						p.D198G	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			5	614	+			198					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.593A>G	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	15.09	2.730928	0.48939	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.58	4.58	0.56647	.	0.370632	0.25065	N	0.033412	T	0.32041	0.0816	L	0.36672	1.1	0.26519	N	0.974469	B	0.30361	0.277	B	0.23419	0.046	T	0.19353	-1.0308	9	0.37606	T	0.19	-4.1699	13.2115	0.59828	1.0:0.0:0.0:0.0	.	198	Q66K64	DCA15_HUMAN	G	198	.	ENSP00000254337:D198G	D	+	2	0	DCAF15	13928054	0.997000	0.39634	0.965000	0.40720	0.960000	0.62799	3.933000	0.56545	1.826000	0.53198	0.448000	0.29417	GAT		0.667	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		7	41	0	0	0	1	0	7	41				
AJUBA	84962	broad.mit.edu	37	14	23444314	23444314	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:23444314C>G	ENST00000262713.2	-	5	1615		c.e5-1		RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site|AJUBA_ENST00000397388.3_Splice_Site	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein						calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTTGTAGGATCTGGCTCATGG	0.517																																						ENST00000262713.2																			0											c.e5-1		ajuba LIM protein							76.0	73.0	74.0					14																	23444314		2203	4300	6503	SO:0001630	splice_region_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444314C>G	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1240-1G>C	14.37:g.23444314C>G						AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site		NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			5	1615	-								A8MX18|D3DS37	Splice_Site	SNP	ENST00000262713.2	37		CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997390	0.74818	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JUB	22514154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.331000	0.79192	2.894000	0.99253	0.655000	0.94253	.		0.517	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2		Intron	23	34	0	0	0	1	0	23	34				
C10orf88	80007	broad.mit.edu	37	10	124697575	124697575	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:124697575T>C	ENST00000481909.1	-	5	973	c.749A>G	c.(748-750)aAc>aGc	p.N250S	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	250										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GGACGACTTGTTTAAGGTTCC	0.408																																						ENST00000481909.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18						c.(748-750)aAc>aGc		chromosome 10 open reading frame 88							131.0	122.0	125.0					10																	124697575		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124697575T>C	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.749A>G	10.37:g.124697575T>C	ENSP00000419126:p.Asn250Ser					C10orf88_ENST00000368891.5_5'UTR	p.N250S	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	5	973	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	250					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.749A>G	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	T	1.744	-0.490910	0.04322	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.1	-0.0438	0.13858	.	0.633931	0.14189	N	0.335471	T	0.08223	0.0205	N	0.01048	-1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.35450	-0.9788	9	0.18710	T	0.47	.	5.6076	0.17389	0.0:0.0912:0.3312:0.5776	.	250	Q9H8K7	CJ088_HUMAN	S	250	.	ENSP00000419126:N250S	N	-	2	0	C10orf88	124687565	0.000000	0.05858	0.003000	0.11579	0.233000	0.25261	0.129000	0.15830	-0.224000	0.09928	0.477000	0.44152	AAC		0.408	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		35	132	0	0	0	1	0	35	132				
CYLC1	1538	broad.mit.edu	37	X	83128054	83128054	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:83128054C>A	ENST00000329312.4	+	4	375	c.338C>A	c.(337-339)gCa>gAa	p.A113E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	113					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTTAAAAAAGCAGAATATAAA	0.368																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(337-339)gCa>gAa		cylicin, basic protein of sperm head cytoskeleton 1							33.0	30.0	31.0					X																	83128054		2197	4293	6490	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128054C>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.338C>A	X.37:g.83128054C>A	ENSP00000331556:p.Ala113Glu						p.A113E	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	375	+			113					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.338C>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.573386	0.45902	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.57436	0.4	4.67	-0.875	0.10628	.	.	.	.	.	T	0.50446	0.1616	L	0.52011	1.625	0.09310	N	1	D;D	0.58268	0.982;0.982	P;P	0.54924	0.764;0.764	T	0.43540	-0.9385	9	0.87932	D	0	2.2235	0.4749	0.00538	0.2105:0.336:0.1487:0.3049	.	113;113	P35663;F5H4V5	CYLC1_HUMAN;.	E	113	ENSP00000331556:A113E	ENSP00000331556:A113E	A	+	2	0	CYLC1	83014710	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.277000	0.08502	-0.498000	0.06632	-0.192000	0.12808	GCA		0.368	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		17	19	1	0	3.32936e-07	1	3.59547e-07	17	19				
ANKRD30BL	554226	broad.mit.edu	37	2	132912341	132912341	+	Splice_Site	SNP	C	C	T	rs201696527		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:132912341C>T	ENST00000409867.1	-	4	757	c.508G>A	c.(508-510)Gct>Act	p.A170T	ANKRD30BL_ENST00000470729.1_5'UTR|RNU6-1132P_ENST00000459214.1_RNA			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	170								p.A170T(2)		endometrium(1)|kidney(3)	4						GTGTGGCCAGCCTGTAAAACA	0.313																																						ENST00000409867.1																			2	Substitution - Missense(2)	p.A170T(2)	kidney(2)	endometrium(1)|kidney(3)	4						c.e4-1		ankyrin repeat domain 30B-like																																				SO:0001630	splice_region_variant	554226							g.chr2:132912341C>T			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.508-1G>A	2.37:g.132912341C>T						ANKRD30BL_ENST00000470729.1_5'UTR	p.A170_splice							4	757	-								B8ZZL7	Splice_Site	SNP	ENST00000409867.1	37	c.507_splice		.	.	.	.	.	.	.	.	.	.	.	9.294	1.051484	0.19827	.	.	ENSG00000163046	ENST00000409867	T	0.64438	-0.1	0.569	-0.552	0.11818	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.42716	-0.9435	5	0.38643	T	0.18	.	.	.	.	.	.	.	.	T	170	ENSP00000386398:A170T	ENSP00000295181:A170T	A	-	1	0	ANKRD30BL	132628811	0.467000	0.25831	0.261000	0.24466	0.505000	0.33919	0.179000	0.16840	-0.292000	0.08999	0.184000	0.17185	GCT		0.313	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	Missense_Mutation	3	15	0	0	0	1	0	3	15				
COL11A1	1301	broad.mit.edu	37	1	103364261	103364261	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:103364261C>T	ENST00000370096.3	-	56	4521	c.4209G>A	c.(4207-4209)aaG>aaA	p.K1403K	COL11A1_ENST00000353414.4_Silent_p.K1364K|COL11A1_ENST00000358392.2_Silent_p.K1415K|COL11A1_ENST00000512756.1_Silent_p.K1287K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1403	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGACCAGGCTTTCCTGCAG	0.458																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4243-4245)aaG>aaA		collagen, type XI, alpha 1							45.0	48.0	47.0					1																	103364261		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364261C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4209G>A	1.37:g.103364261C>T						COL11A1_ENST00000512756.1_Silent_p.K1287K|COL11A1_ENST00000353414.4_Silent_p.K1364K|COL11A1_ENST00000370096.3_Silent_p.K1403K	p.K1415K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	56	4562	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1403			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.4245G>A	CCDS778.1																																																																																				0.458	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	35	0	0	0	1	0	11	35				
TNRC6B	23112	broad.mit.edu	37	22	40711989	40711989	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:40711989G>C	ENST00000454349.2	+	21	5158	c.4947G>C	c.(4945-4947)tgG>tgC	p.W1649C	TNRC6B_ENST00000335727.9_Missense_Mutation_p.W1539C|TNRC6B_ENST00000301923.9_Missense_Mutation_p.W845C|TNRC6B_ENST00000402203.1_Missense_Mutation_p.W845C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1649	RRM.|Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CTAGTTACTGGCTGGTTCTTC	0.428																																						ENST00000454349.2																			0				breast(1)	1						c.(4945-4947)tgG>tgC		trinucleotide repeat containing 6B							108.0	96.0	100.0					22																	40711989		1899	4131	6030	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40711989G>C	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4947G>C	22.37:g.40711989G>C	ENSP00000401946:p.Trp1649Cys					TNRC6B_ENST00000402203.1_Missense_Mutation_p.W845C|TNRC6B_ENST00000335727.8_Missense_Mutation_p.W1539C|TNRC6B_ENST00000301923.9_Missense_Mutation_p.W845C	p.W1649C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			21	5158	+			1649			RRM.		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4947G>C	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.764390|4.764390	0.89932|0.89932	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	.|T;T;T;T	.|0.47177	.|0.85;0.85;0.85;0.85	5.89|5.89	5.89|5.89	0.94794|0.94794	.|Nucleotide-binding, alpha-beta plait (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72922|0.72922	0.3521|0.3521	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.999	.|D;D;D;D	.|0.87578	.|0.992;0.997;0.998;0.992	T|T	0.74318|0.74318	-0.3704|-0.3704	5|10	.|0.66056	.|D	.|0.02	-3.6386|-3.6386	20.2561|20.2561	0.98419|0.98419	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1649;1539;1539;845	.|Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2	.|TNR6B_HUMAN;.;.;.	A|C	1335|845;845;1649;1539;1539	.|ENSP00000306759:W845C;ENSP00000384795:W845C;ENSP00000401946:W1649C;ENSP00000338371:W1539C	.|ENSP00000306759:W845C	G|W	+|+	2|3	0|0	TNRC6B|TNRC6B	39041935|39041935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.742000|9.742000	0.98846|0.98846	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.428	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				16	42	0	0	0	1	0	16	42				
C2CD5	9847	broad.mit.edu	37	12	22646170	22646170	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:22646170A>C	ENST00000333957.4	-	11	1504	c.1249T>G	c.(1249-1251)Tca>Gca	p.S417A	C2CD5_ENST00000544930.1_Missense_Mutation_p.S232A|C2CD5_ENST00000446597.1_Missense_Mutation_p.S417A|C2CD5_ENST00000545552.1_Missense_Mutation_p.S430A|C2CD5_ENST00000542676.1_Missense_Mutation_p.S417A|C2CD5_ENST00000396028.2_Missense_Mutation_p.S408A|C2CD5_ENST00000536386.1_Missense_Mutation_p.S419A	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	417					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ATGCTAGTTGATTCACTGTAG	0.383																																						ENST00000333957.4																			0											c.(1249-1251)Tca>Gca		C2 calcium-dependent domain containing 5							218.0	186.0	197.0					12																	22646170		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22646170A>C	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1249T>G	12.37:g.22646170A>C	ENSP00000334229:p.Ser417Ala					C2CD5_ENST00000545552.1_Missense_Mutation_p.S430A|C2CD5_ENST00000396028.2_Missense_Mutation_p.S408A|C2CD5_ENST00000536386.1_Missense_Mutation_p.S419A|C2CD5_ENST00000544930.1_Missense_Mutation_p.S232A|C2CD5_ENST00000446597.1_Missense_Mutation_p.S417A|C2CD5_ENST00000542676.1_Missense_Mutation_p.S417A	p.S417A	NM_014802.1	NP_055617.1					11	1504	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1249T>G	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.59|19.59	3.855705|3.855705	0.71834|0.71834	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000535555|ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.|T;T;T;T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.171603	.|0.41712	.|D	.|0.000826	T|T	0.61553|0.61553	0.2356|0.2356	L|L	0.37800|0.37800	1.135|1.135	0.42866|0.42866	D|D	0.994126|0.994126	.|P;D;D;B;D;P	.|0.67145	.|0.7;0.962;0.987;0.418;0.996;0.9	.|B;P;P;B;D;B	.|0.77557	.|0.431;0.633;0.777;0.093;0.99;0.444	T|T	0.57499|0.57499	-0.7801|-0.7801	5|10	.|0.23302	.|T	.|0.38	-16.9774|-16.9774	14.5538|14.5538	0.68086|0.68086	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|419;417;232;419;408;417	.|F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.|.;.;.;.;.;K0528_HUMAN	S|A	114|417;417;419;408;417;430;232	.|ENSP00000334229:S417A;ENSP00000388756:S417A;ENSP00000439392:S419A;ENSP00000379345:S408A;ENSP00000441951:S417A;ENSP00000443204:S430A;ENSP00000445288:S232A	.|ENSP00000334229:S417A	I|S	-|-	2|1	0|0	KIAA0528|KIAA0528	22537437|22537437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.979000|6.979000	0.76154|0.76154	2.176000|2.176000	0.68965|0.68965	0.477000|0.477000	0.44152|0.44152	ATC|TCA		0.383	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		37	155	0	0	0	1	0	37	155				
SLC9C2	284525	broad.mit.edu	37	1	173517553	173517553	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:173517553T>G	ENST00000367714.3	-	12	1858	c.1436A>C	c.(1435-1437)gAt>gCt	p.D479A	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.D377A	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	479					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CCTCGTTTTATCTTCTACTAA	0.363																																						ENST00000367714.3																			0											c.(1435-1437)gAt>gCt		solute carrier family 9, member C2 (putative)							139.0	143.0	142.0					1																	173517553		2202	4300	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173517553T>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1436A>C	1.37:g.173517553T>G	ENSP00000356687:p.Asp479Ala					SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.D377A	p.D479A	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			12	1858	-			479					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1436A>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.387317	0.25031	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.19394	2.15;2.15	4.78	3.63	0.41609	.	0.232960	0.29684	N	0.011467	T	0.02929	0.0087	N	0.08118	0	0.24839	N	0.992479	B	0.34015	0.435	B	0.24974	0.057	T	0.31110	-0.9955	10	0.44086	T	0.13	-4.7093	8.694	0.34284	0.0:0.0:0.1929:0.8071	.	479	Q5TAH2	S9A11_HUMAN	A	479;377	ENSP00000356687:D479A;ENSP00000445437:D377A	ENSP00000356687:D479A	D	-	2	0	SLC9A11	171784176	1.000000	0.71417	0.960000	0.40013	0.498000	0.33706	2.021000	0.41020	0.757000	0.33036	0.332000	0.21555	GAT		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		29	95	0	0	0	1	0	29	95				
MUSK	4593	broad.mit.edu	37	9	113547130	113547130	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:113547130G>T	ENST00000374448.4	+	12	1554	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	MUSK_ENST00000189978.5_Missense_Mutation_p.D474Y|MUSK_ENST00000374438.1_Intron|MUSK_ENST00000416899.2_Missense_Mutation_p.D466Y	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	474					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCCAAGTGTGGACATTCCAAA	0.373																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1396-1398)Gac>Tac		muscle, skeletal, receptor tyrosine kinase							141.0	135.0	137.0					9																	113547130		1959	4145	6104	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547130G>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1420G>T	9.37:g.113547130G>T	ENSP00000363571:p.Asp474Tyr					MUSK_ENST00000374448.4_Missense_Mutation_p.D474Y|MUSK_ENST00000189978.5_Missense_Mutation_p.D474Y|MUSK_ENST00000374438.1_Intron	p.D466Y			O15146	MUSK_HUMAN			10	1522	+			474					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1396G>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331890	0.41297	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.74315	-0.83	5.73	5.73	0.89815	.	0.273749	0.42964	D	0.000629	T	0.67979	0.2951	L	0.36672	1.1	0.80722	D	1	B	0.29862	0.259	B	0.26614	0.071	T	0.66228	-0.5976	10	0.51188	T	0.08	.	18.8848	0.92372	0.0:0.0:1.0:0.0	.	474	O15146	MUSK_HUMAN	Y	480;474;474;388;388;472	ENSP00000363571:D474Y	ENSP00000189978:D480Y	D	+	1	0	MUSK	112586951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.520000	0.53465	2.700000	0.92200	0.655000	0.94253	GAC		0.373	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				41	62	1	0	4.67007e-22	1	5.84239e-22	41	62				
COL11A1	1301	broad.mit.edu	37	1	103548523	103548523	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:103548523G>T	ENST00000370096.3	-	2	424	c.112C>A	c.(112-114)Cca>Aca	p.P38T	COL11A1_ENST00000353414.4_Missense_Mutation_p.P38T|COL11A1_ENST00000358392.2_Missense_Mutation_p.P38T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P38T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	38					cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATCAACTGGAGCAGCTGAA	0.333																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(112-114)Cca>Aca		collagen, type XI, alpha 1							69.0	70.0	70.0					1																	103548523		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548523G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.112C>A	1.37:g.103548523G>T	ENSP00000359114:p.Pro38Thr					COL11A1_ENST00000512756.1_Missense_Mutation_p.P38T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P38T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P38T	p.P38T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	429	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	38			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.112C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963905	0.53507	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.87097	2.86	0.58432	D	0.999998	B;B;B;B	0.25441	0.016;0.126;0.126;0.077	B;B;B;B	0.23419	0.009;0.046;0.046;0.02	T	0.51679	-0.8675	10	0.56958	D	0.05	.	16.122	0.81365	0.0:0.1336:0.8664:0.0	.	38;38;38;38	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	38	ENSP00000359114:P38T;ENSP00000351163:P38T;ENSP00000302551:P38T;ENSP00000426533:P38T;ENSP00000408640:P38T	ENSP00000302551:P38T	P	-	1	0	COL11A1	103321111	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.558000	0.67319	2.694000	0.91930	0.467000	0.42956	CCA		0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	71	1	0	3.86212e-05	1	4.0416e-05	11	71				
DNAH7	56171	broad.mit.edu	37	2	196786826	196786826	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:196786826C>A	ENST00000312428.6	-	24	4021	c.3921G>T	c.(3919-3921)acG>acT	p.T1307T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1307	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACATCTATCCGTGAGTGGTG	0.353																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3919-3921)acG>acT		dynein, axonemal, heavy chain 7							93.0	91.0	91.0					2																	196786826		1825	4096	5921	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196786826C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3921G>T	2.37:g.196786826C>A							p.T1307T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			24	4021	-			1307			AAA 1 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.3921G>T	CCDS42794.1																																																																																				0.353	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		24	51	1	0	6.36457e-07	1	6.81278e-07	24	51				
GLB1L2	89944	broad.mit.edu	37	11	134239780	134239780	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:134239780G>A	ENST00000535456.2	+	11	1296		c.e11+1		GLB1L2_ENST00000389881.3_Splice_Site|GLB1L2_ENST00000529077.1_Splice_Site|GLB1L2_ENST00000339772.7_Splice_Site	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2						carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCCATCTCAGGTACCCAGCAG	0.547																																						ENST00000535456.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.e11+1		galactosidase, beta 1-like 2							127.0	111.0	116.0					11																	134239780		2201	4297	6498	SO:0001630	splice_region_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134239780G>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1108+1G>A	11.37:g.134239780G>A						GLB1L2_ENST00000389881.3_Splice_Site|GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000529077.1_Splice_Site		NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	11	1296	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)						A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Splice_Site	SNP	ENST00000535456.2	37		CCDS31724.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814986	0.70912	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881;ENST00000525089	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6649	0.85250	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLB1L2	133744990	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.555000	0.60767	2.668000	0.90789	0.655000	0.94253	.		0.547	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	Intron	32	95	0	0	0	1	0	32	95				
SCN1A	6323	broad.mit.edu	37	2	166894421	166894421	+	Missense_Mutation	SNP	G	G	T	rs558678383		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:166894421G>T	ENST00000303395.4	-	15	2810	c.2811C>A	c.(2809-2811)ttC>ttA	p.F937L	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F909L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F926L|SCN1A_ENST00000423058.2_Missense_Mutation_p.F937L|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	937					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAGTGGAAGAAGTCATTCA	0.517																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2809-2811)ttC>ttA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						279.0	232.0	248.0					2																	166894421		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894421G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2811C>A	2.37:g.166894421G>T	ENSP00000303540:p.Phe937Leu					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F909L|SCN1A_ENST00000303395.4_Missense_Mutation_p.F937L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F926L	p.F937L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			15	2828	-			937					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2811C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918054	0.73098	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23	5.18	1.33	0.21861	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98757	0.9582	M	0.79614	2.46	0.45704	D	0.998618	B;D;D	0.76494	0.376;0.997;0.999	B;D;D	0.76575	0.159;0.983;0.988	D	0.98763	1.0725	10	0.87932	D	0	.	11.1201	0.48284	0.3889:0.0:0.6111:0.0	.	926;909;937	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	L	937;937;926;909	ENSP00000407030:F937L;ENSP00000303540:F937L;ENSP00000364554:F926L;ENSP00000386312:F909L	ENSP00000303540:F937L	F	-	3	2	SCN1A	166602667	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.637000	0.24659	0.300000	0.22699	-0.216000	0.12614	TTC		0.517	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		61	163	1	0	6.20203e-27	1	7.85591e-27	61	163				
KRT7	3855	broad.mit.edu	37	12	52629034	52629034	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:52629034C>T	ENST00000331817.5	+	2	603	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	140	Linker 1.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	TCCCAGACATCTTTGAGGCCC	0.632																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(418-420)atC>atT		keratin 7							40.0	45.0	43.0					12																	52629034		2203	4300	6503	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52629034C>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.420C>T	12.37:g.52629034C>T							p.I140I	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	2	603	+			140			Linker 1.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.420C>T	CCDS8822.1																																																																																				0.632	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		23	55	0	0	0	1	0	23	55				
C7orf62	219557	broad.mit.edu	37	7	88423864	88423864	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:88423864A>C	ENST00000297203.2	-	2	578	c.393T>G	c.(391-393)atT>atG	p.I131M	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	131										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAATGACTATAATTTTCATTT	0.348																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(391-393)atT>atG		chromosome 7 open reading frame 62							52.0	54.0	53.0					7																	88423864		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423864A>C	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.393T>G	7.37:g.88423864A>C	ENSP00000297203:p.Ile131Met					ZNF804B_ENST00000333190.4_Intron	p.I131M	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	578	-			131						Missense_Mutation	SNP	ENST00000297203.2	37	c.393T>G	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934890	0.52866	.	.	ENSG00000164645	ENST00000297203	T	0.23552	1.9	6.06	-1.77	0.07982	.	0.184731	0.47852	D	0.000201	T	0.43612	0.1255	M	0.76002	2.32	0.21020	N	0.999802	D	0.76494	0.999	D	0.70016	0.967	T	0.34304	-0.9834	10	0.87932	D	0	-23.9767	10.4348	0.44428	0.4895:0.0:0.5105:0.0	.	131	Q8TBZ9	CG062_HUMAN	M	131	ENSP00000297203:I131M	ENSP00000297203:I131M	I	-	3	3	C7orf62	88261800	0.747000	0.28283	0.103000	0.21229	0.921000	0.55340	0.303000	0.19210	-0.289000	0.09038	0.528000	0.53228	ATT		0.348	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		27	78	0	0	0	1	0	27	78				
PDIA2	64714	broad.mit.edu	37	16	335009	335009	+	Silent	SNP	C	C	T	rs192986117		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:335009C>T	ENST00000219406.6	+	4	690	c.672C>T	c.(670-672)ttC>ttT	p.F224F	PDIA2_ENST00000404312.1_Silent_p.F221F|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	224					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGGTTCTCTTCAAGAAGGTAG	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		16804	0.001		0.0	False		,,,				2504	0.0					ENST00000219406.6																			0				breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17						c.(670-672)ttC>ttT		protein disulfide isomerase family A, member 2							57.0	62.0	60.0					16																	335009		1999	4153	6152	SO:0001819	synonymous_variant	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335009C>T	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.672C>T	16.37:g.335009C>T						PDIA2_ENST00000404312.1_Silent_p.F221F|PDIA2_ENST00000462950.1_3'UTR	p.F224F	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN			4	690	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	224					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	c.672C>T	CCDS42089.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	0.409	-0.914343	0.02415	.	.	ENSG00000185615	ENST00000456379	.	.	.	3.64	1.66	0.24008	.	.	.	.	.	T	0.56992	0.2023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49153	-0.8969	4	.	.	.	.	8.6322	0.33926	0.0:0.8:0.0:0.2	.	.	.	.	L	206	.	.	S	+	2	0	PDIA2	275010	1.000000	0.71417	0.981000	0.43875	0.007000	0.05969	2.475000	0.45162	0.240000	0.21263	-0.461000	0.05368	TCA		0.632	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		56	55	0	0	0	1	0	56	55				
KRTAP1-3	81850	broad.mit.edu	37	17	39190831	39190831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39190831G>T	ENST00000344363.5	-	1	276	c.243C>A	c.(241-243)tgC>tgA	p.C81*		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	91			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCCAGTTCCGCAGGAGCTGG	0.627																																						ENST00000344363.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(241-243)tgC>tgA		keratin associated protein 1-3							30.0	33.0	32.0					17																	39190831		1996	4170	6166	SO:0001587	stop_gained	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190831G>T	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.243C>A	17.37:g.39190831G>T	ENSP00000344420:p.Cys81*						p.C81*	NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	276	-		Breast(137;0.000496)	91		Missing (in allele KAP1.9).			Q07628|Q8IUG0|Q9BYS2	Nonsense_Mutation	SNP	ENST00000344363.5	37	c.243C>A	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	g	10.33	1.320857	0.23994	.	.	ENSG00000221880	ENST00000344363	.	.	.	3.98	-5.93	0.02254	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1616	0.54107	0.447:0.0:0.553:0.0	.	.	.	.	X	81	.	ENSP00000344420:C81X	C	-	3	2	KRTAP1-3	36444357	0.989000	0.36119	0.002000	0.10522	0.020000	0.10135	2.311000	0.43717	-1.232000	0.02554	-2.110000	0.00354	TGC		0.627	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			37	51	1	0	7.04047e-22	1	8.77174e-22	37	51				
C1orf198	84886	broad.mit.edu	37	1	231004195	231004195	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:231004195G>C	ENST00000366663.5	-	1	204	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	22						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGGTCGTCCAGAGGCCGGTTC	0.697																																						ENST00000366663.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(64-66)Ctg>Gtg		chromosome 1 open reading frame 198							16.0	20.0	18.0					1																	231004195		2200	4297	6497	SO:0001583	missense	84886							g.chr1:231004195G>C	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.64C>G	1.37:g.231004195G>C	ENSP00000355623:p.Leu22Val					C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Intron	p.L22V	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN			1	204	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	22					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.64C>G	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.711953	0.89112	.	.	ENSG00000119280	ENST00000366663	T	0.35236	1.32	3.63	3.63	0.41609	.	0.339869	0.23620	U	0.046251	T	0.45637	0.1352	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.53092	-0.8487	10	0.87932	D	0	.	15.081	0.72113	0.0:0.0:1.0:0.0	.	22	Q9H425	CA198_HUMAN	V	22	ENSP00000355623:L22V	ENSP00000355623:L22V	L	-	1	2	C1orf198	229070818	.	.	1.000000	0.80357	0.928000	0.56348	.	.	1.829000	0.53265	0.457000	0.33378	CTG		0.697	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		9	24	0	0	0	1	0	9	24				
INTS9	55756	broad.mit.edu	37	8	28633341	28633341	+	Missense_Mutation	SNP	G	G	A	rs146865172		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:28633341G>A	ENST00000521022.1	-	14	1579	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	INTS9_ENST00000521070.1_5'Flank|INTS9_ENST00000416984.2_Missense_Mutation_p.R479W|INTS9_ENST00000521777.1_Missense_Mutation_p.R476W|INTS9_ENST00000397363.4_Missense_Mutation_p.R394W	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	500					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TCAGCCCGCCGATAGGACATG	0.602																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1435-1437)Cgg>Tgg		integrator complex subunit 9		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4399		0,1,2199	55.0	60.0	58.0		1435,1426,1498	4.4	1.0	8	dbSNP_134	58	0,8598		0,0,4299	no	missense,missense,missense	INTS9	NM_001145159.2,NM_001172562.1,NM_018250.3	101,101,101	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	479/638,476/635,500/659	28633341	1,12997	2200	4299	6499	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28633341G>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1498C>T	8.37:g.28633341G>A	ENSP00000429065:p.Arg500Trp					INTS9_ENST00000521777.1_Missense_Mutation_p.R476W|INTS9_ENST00000521022.1_Missense_Mutation_p.R500W|INTS9_ENST00000397363.4_Missense_Mutation_p.R394W	p.R479W	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	13	1794	-		Ovarian(32;0.0439)	500					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.1435C>T	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929685	0.73327	2.27E-4	0.0	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.34	4.45	0.53987	.	0.053918	0.64402	D	0.000001	T	0.42810	0.1219	L	0.54323	1.7	0.58432	D	0.999994	D;D	0.62365	0.991;0.958	B;P	0.44860	0.394;0.462	T	0.49457	-0.8938	10	0.66056	D	0.02	-19.2852	14.387	0.66953	0.0726:0.0:0.9274:0.0	.	479;500	B7Z6M5;Q9NV88	.;INT9_HUMAN	W	500;479;344;476;394	ENSP00000429065:R500W;ENSP00000398208:R479W;ENSP00000430943:R476W;ENSP00000380520:R394W	ENSP00000380520:R394W	R	-	1	2	INTS9	28689260	1.000000	0.71417	0.985000	0.45067	0.830000	0.47004	7.576000	0.82467	2.492000	0.84095	0.557000	0.71058	CGG		0.602	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		7	53	0	0	0	1	0	7	53				
EPB41L4A	64097	broad.mit.edu	37	5	111504461	111504461	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:111504461C>A	ENST00000261486.5	-	22	2183	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	636						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ATCCCCAGAACCCTGAGCATC	0.403																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(1906-1908)gGt>gTt		erythrocyte membrane protein band 4.1 like 4A							98.0	98.0	98.0					5																	111504461		1908	4115	6023	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111504461C>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1907G>T	5.37:g.111504461C>A	ENSP00000261486:p.Gly636Val					EPB41L4A_ENST00000507810.1_5'UTR	p.G636V	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	22	2183	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	636					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1907G>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992152	0.35131	.	.	ENSG00000129595	ENST00000261486	D	0.82619	-1.63	5.54	5.54	0.83059	.	0.243031	0.27650	U	0.018424	D	0.82435	0.5036	N	0.24115	0.695	0.80722	D	1	B;D	0.57571	0.009;0.98	B;P	0.54856	0.005;0.762	T	0.82293	-0.0529	10	0.38643	T	0.18	.	18.2429	0.89973	0.0:1.0:0.0:0.0	.	636;263	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	V	636	ENSP00000261486:G636V	ENSP00000261486:G636V	G	-	2	0	EPB41L4A	111532360	1.000000	0.71417	0.993000	0.49108	0.145000	0.21501	4.261000	0.58841	2.588000	0.87417	0.591000	0.81541	GGT		0.403	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			13	29	1	0	2.23348e-06	1	2.37405e-06	13	29				
SLC16A10	117247	broad.mit.edu	37	6	111543244	111543244	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:111543244T>C	ENST00000368851.5	+	6	1529	c.1354T>C	c.(1354-1356)Ttc>Ctc	p.F452L	SLC16A10_ENST00000368850.3_Missense_Mutation_p.F138L	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	452					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGATGTGGCATTCTACCTCGC	0.493																																						ENST00000368850.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(412-414)Ttc>Ctc		solute carrier family 16 (aromatic amino acid transporter), member 10							144.0	138.0	140.0					6																	111543244		2203	4300	6503	SO:0001583	missense	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111543244T>C	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1354T>C	6.37:g.111543244T>C	ENSP00000357844:p.Phe452Leu					SLC16A10_ENST00000368851.5_Missense_Mutation_p.F452L	p.F138L			Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	5	898	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	452					B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	37	c.412T>C	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603837	0.87157	.	.	ENSG00000112394	ENST00000368851;ENST00000368850	T;T	0.35605	1.3;1.3	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54450	-0.8292	10	0.56958	D	0.05	.	15.646	0.77049	0.0:0.0:0.0:1.0	.	452	Q8TF71	MOT10_HUMAN	L	452;138	ENSP00000357844:F452L;ENSP00000357843:F138L	ENSP00000357843:F138L	F	+	1	0	SLC16A10	111649937	1.000000	0.71417	0.956000	0.39512	0.722000	0.41435	7.503000	0.81632	2.077000	0.62373	0.533000	0.62120	TTC		0.493	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			14	119	0	0	0	1	0	14	119				
GRM1	2911	broad.mit.edu	37	6	146708096	146708096	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:146708096A>G	ENST00000282753.1	+	6	1908	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	GRM1_ENST00000355289.4_Missense_Mutation_p.D558G|GRM1_ENST00000392299.2_Missense_Mutation_p.D558G|GRM1_ENST00000507907.1_Missense_Mutation_p.D558G|GRM1_ENST00000492807.2_Missense_Mutation_p.D558G|GRM1_ENST00000361719.2_Missense_Mutation_p.D558G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	558					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TATGTGCAAGATGAGTTCACC	0.438																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1672-1674)gAt>gGt		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						165.0	154.0	158.0					6																	146708096		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146708096A>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1673A>G	6.37:g.146708096A>G	ENSP00000282753:p.Asp558Gly					GRM1_ENST00000492807.2_Missense_Mutation_p.D558G|GRM1_ENST00000361719.2_Missense_Mutation_p.D558G|GRM1_ENST00000355289.4_Missense_Mutation_p.D558G|GRM1_ENST00000282753.1_Missense_Mutation_p.D558G|GRM1_ENST00000507907.1_Missense_Mutation_p.D558G	p.D558G			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	7	2143	+		Ovarian(120;0.0387)	558					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1673A>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653204	0.88056	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	5.42	5.42	0.78866	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.984;1.0;0.991	P;D;D	0.91635	0.888;0.999;0.954	D	0.94982	0.8126	10	0.87932	D	0	.	15.1202	0.72438	1.0:0.0:0.0:0.0	.	558;558;558	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	G	558	ENSP00000354896:D558G;ENSP00000376119:D558G;ENSP00000424095:D558G;ENSP00000282753:D558G;ENSP00000347437:D558G;ENSP00000425599:D558G	ENSP00000282753:D558G	D	+	2	0	GRM1	146749789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.639000	0.91023	2.036000	0.60181	0.477000	0.44152	GAT		0.438	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		42	140	0	0	0	1	0	42	140				
OR8I2	120586	broad.mit.edu	37	11	55861561	55861561	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:55861561C>A	ENST00000302124.2	+	1	809	c.778C>A	c.(778-780)Caa>Aaa	p.Q260K		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CACCTATTTGCAACCTGATAA	0.493																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(778-780)Caa>Aaa		olfactory receptor, family 8, subfamily I, member 2							128.0	123.0	125.0					11																	55861561		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861561C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.778C>A	11.37:g.55861561C>A	ENSP00000303864:p.Gln260Lys					OR8I2_ENST00000560768.1_3'UTR	p.Q260K			Q8N0Y5	OR8I2_HUMAN			1	809	+	Esophageal squamous(21;0.00693)		260					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.778C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	1.286	-0.609028	0.03690	.	.	ENSG00000172154	ENST00000302124	T	0.37058	1.22	4.33	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	U	0.001773	T	0.16300	0.0392	N	0.05383	-0.06	0.09310	N	1	B	0.18166	0.026	B	0.18561	0.022	T	0.16364	-1.0405	10	0.17832	T	0.49	-5.6598	8.5171	0.33253	0.1713:0.6623:0.1663:0.0	.	260	Q8N0Y5	OR8I2_HUMAN	K	260	ENSP00000303864:Q260K	ENSP00000303864:Q260K	Q	+	1	0	OR8I2	55618137	0.000000	0.05858	0.986000	0.45419	0.522000	0.34438	-0.279000	0.08479	2.115000	0.64714	0.440000	0.28878	CAA		0.493	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		25	139	1	0	2.27525e-19	1	2.77225e-19	25	139				
WNT8A	7478	broad.mit.edu	37	5	137426742	137426742	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:137426742C>G	ENST00000398754.1	+	6	1041	c.1036C>G	c.(1036-1038)Ctg>Gtg	p.L346V	WNT8A_ENST00000506684.1_Missense_Mutation_p.L364V	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	346					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCCAGTCCCTGGGTAAGGG	0.502																																						ENST00000506684.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18						c.(1090-1092)Ctg>Gtg		wingless-type MMTV integration site family, member 8A							86.0	81.0	82.0					5																	137426742		1986	4167	6153	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137426742C>G	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.1036C>G	5.37:g.137426742C>G	ENSP00000381739:p.Leu346Val					WNT8A_ENST00000398754.1_Missense_Mutation_p.L346V	p.L364V			Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	1326	+			346					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.1090C>G	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	C	3.107	-0.183517	0.06340	.	.	ENSG00000061492	ENST00000506684;ENST00000398754	T;T	0.75050	-0.81;-0.9	4.73	-4.95	0.03048	.	1.727230	0.02506	N	0.090986	T	0.53706	0.1813	N	0.22421	0.69	0.09310	N	1	B;B	0.20459	0.045;0.006	B;B	0.21546	0.035;0.006	T	0.35699	-0.9778	10	0.16896	T	0.51	.	1.5783	0.02629	0.2204:0.2226:0.1086:0.4485	.	364;346	D6RF47;Q9H1J5	.;WNT8A_HUMAN	V	364;346	ENSP00000426653:L364V;ENSP00000381739:L346V	ENSP00000354726:L346V	L	+	1	2	WNT8A	137454641	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.402000	0.02499	-1.564000	0.01678	0.305000	0.20034	CTG		0.502	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		28	59	0	0	0	1	0	28	59				
CMIP	80790	broad.mit.edu	37	16	81730186	81730186	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:81730186G>T	ENST00000537098.3	+	14	1624	c.1552G>T	c.(1552-1554)Gtg>Ttg	p.V518L	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.V424L|CMIP_ENST00000398040.4_Missense_Mutation_p.V365L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	518						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CCTGCTGAGCGTGCGGGCCGG	0.622																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1552-1554)Gtg>Ttg		c-Maf inducing protein							32.0	37.0	35.0					16																	81730186		2085	4217	6302	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81730186G>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1552G>T	16.37:g.81730186G>T	ENSP00000446100:p.Val518Leu					CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V365L|CMIP_ENST00000539778.2_Missense_Mutation_p.V424L	p.V518L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			14	1624	+			484					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1552G>T	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955909	0.92726	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.09350	2.99;2.99	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.959;0.959;0.972	D;D;D;D	0.81914	0.995;0.959;0.959;0.938	T	0.01093	-1.1454	10	0.59425	D	0.04	.	19.3912	0.94583	0.0:0.0:1.0:0.0	.	331;365;424;518	B7Z942;Q8IY22-3;Q8IY22-2;Q8IY22	.;.;.;CMIP_HUMAN	L	518;424;424;331	ENSP00000446100:V518L;ENSP00000440401:V424L	ENSP00000381120:V424L	V	+	1	0	CMIP	80287687	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	9.434000	0.97515	2.575000	0.86900	0.462000	0.41574	GTG		0.622	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		13	24	1	0	0.000219431	1	0.000228449	13	24				
PAPPA2	60676	broad.mit.edu	37	1	176661369	176661369	+	Missense_Mutation	SNP	C	C	T	rs369706751		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:176661369C>T	ENST00000367662.3	+	6	3703	c.2539C>T	c.(2539-2541)Ccc>Tcc	p.P847S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	847					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCATCCCCATTCCACC	0.512																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2539-2541)Ccc>Tcc		pappalysin 2		C	SER/PRO	0,4136		0,0,2068	166.0	173.0	171.0		2539	5.8	1.0	1		171	1,8407		0,1,4203	no	missense	PAPPA2	NM_020318.2	74	0,1,6271	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	847/1792	176661369	1,12543	2068	4204	6272	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661369C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2539C>T	1.37:g.176661369C>T	ENSP00000356634:p.Pro847Ser						p.P847S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			6	3703	+			847					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2539C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053884	0.93793	0.0	1.19E-4	ENSG00000116183	ENST00000367662	T	0.01981	4.52	5.81	5.81	0.92471	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.00020	-1.2352	10	0.72032	D	0.01	-20.9599	19.6776	0.95943	0.0:1.0:0.0:0.0	.	847	Q9BXP8	PAPP2_HUMAN	S	847	ENSP00000356634:P847S	ENSP00000356634:P847S	P	+	1	0	PAPPA2	174927992	1.000000	0.71417	0.996000	0.52242	0.839000	0.47603	7.677000	0.84024	2.746000	0.94184	0.655000	0.94253	CCC		0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			43	243	0	0	0	1	0	43	243				
PTCRA	171558	broad.mit.edu	37	6	42893304	42893304	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:42893304C>T	ENST00000304672.1	+	4	811	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	PTCRA_ENST00000446507.1_Missense_Mutation_p.P137S|PTCRA_ENST00000441198.1_Missense_Mutation_p.P219S	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	244					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CAGCAGTTACCCCACTTGCCC	0.642																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(730-732)Ccc>Tcc		pre T-cell antigen receptor alpha							34.0	28.0	30.0					6																	42893304		2200	4297	6497	SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42893304C>T	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.730C>T	6.37:g.42893304C>T	ENSP00000304447:p.Pro244Ser					PTCRA_ENST00000446507.1_Missense_Mutation_p.P137S|PTCRA_ENST00000441198.1_Missense_Mutation_p.P219S	p.P244S	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		4	811	+	Colorectal(47;0.196)		244					Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	c.730C>T	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	4.884	0.164374	0.09287	.	.	ENSG00000171611	ENST00000304672;ENST00000441198;ENST00000446507;ENST00000418903	T;T;T	0.56103	1.21;1.17;0.48	3.02	-6.05	0.02172	.	1.103630	0.07183	N	0.854406	T	0.10508	0.0257	N	0.19112	0.55	0.09310	N	1	B;B;B	0.21381	0.055;0.047;0.003	B;B;B	0.16289	0.015;0.009;0.009	T	0.04885	-1.0920	10	0.56958	D	0.05	.	2.6093	0.04886	0.243:0.4844:0.1067:0.1659	.	137;219;244	Q6ISU1-2;Q6ISU1-3;Q6ISU1	.;.;PTCRA_HUMAN	S	244;219;137;90	ENSP00000304447:P244S;ENSP00000409550:P219S;ENSP00000392288:P137S	ENSP00000304447:P244S	P	+	1	0	PTCRA	43001282	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.151000	0.16283	-3.110000	0.00242	-0.150000	0.13652	CCC		0.642	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		3	15	0	0	0	1	0	3	15				
CCDC85A	114800	broad.mit.edu	37	2	56420458	56420458	+	Missense_Mutation	SNP	G	G	A	rs372992628		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:56420458G>A	ENST00000407595.2	+	2	1625	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	375								p.G375R(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACAAACACGGAGGAGGCAG	0.642																																						ENST00000407595.2																			1	Substitution - Missense(1)	p.G375R(1)	lung(1)	breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1123-1125)Gga>Aga		coiled-coil domain containing 85A		G	ARG/GLY	0,4382		0,0,2191	22.0	27.0	26.0		1123	0.6	0.0	2		26	1,8593		0,1,4296	no	missense	CCDC85A	NM_001080433.1	125	0,1,6487	AA,AG,GG		0.0116,0.0,0.0077	benign	375/554	56420458	1,12975	2191	4297	6488	SO:0001583	missense	114800							g.chr2:56420458G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1123G>A	2.37:g.56420458G>A	ENSP00000384040:p.Gly375Arg					RP11-482H16.1_ENST00000607540.1_RNA	p.G375R	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1625	+			375						Missense_Mutation	SNP	ENST00000407595.2	37	c.1123G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	3.989	-0.004806	0.07773	0.0	1.16E-4	ENSG00000055813	ENST00000407595	.	.	.	5.21	0.597	0.17504	.	2.453220	0.01950	N	0.042599	T	0.14098	0.0341	N	0.14661	0.345	0.09310	N	0.999998	P	0.34412	0.453	B	0.20767	0.031	T	0.10660	-1.0620	9	0.22706	T	0.39	-31.5563	1.648	0.02766	0.1641:0.2469:0.3612:0.2278	.	375	Q96PX6	CC85A_HUMAN	R	375	.	ENSP00000384040:G375R	G	+	1	0	CCDC85A	56273962	0.030000	0.19436	0.019000	0.16419	0.638000	0.38207	0.582000	0.23834	0.177000	0.19895	0.484000	0.47621	GGA		0.642	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			14	29	0	0	0	1	0	14	29				
RNF38	152006	broad.mit.edu	37	9	36375984	36375984	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:36375984G>A	ENST00000259605.6	-	3	410	c.303C>T	c.(301-303)agC>agT	p.S101S	RNF38_ENST00000377877.4_5'UTR|RNF38_ENST00000357058.3_Silent_p.S18S|RNF38_ENST00000350199.4_Silent_p.S18S|RNF38_ENST00000353739.4_Silent_p.S51S|RNF38_ENST00000377885.2_Silent_p.S18S|RNF38_ENST00000491349.1_5'UTR	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	101					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			AGTGATGTTGGCTTGGTCGAA	0.443																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(52-54)agC>agT		ring finger protein 38							198.0	143.0	161.0					9																	36375984		2203	4300	6503	SO:0001819	synonymous_variant	152006						zinc ion binding	g.chr9:36375984G>A		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.303C>T	9.37:g.36375984G>A						RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377877.4_5'UTR|RNF38_ENST00000377885.2_Silent_p.S18S|RNF38_ENST00000353739.4_Silent_p.S51S|RNF38_ENST00000350199.4_Silent_p.S18S|RNF38_ENST00000259605.6_Silent_p.S101S	p.S18S	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	660	-			101					A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Silent	SNP	ENST00000259605.6	37	c.54C>T	CCDS6603.1																																																																																				0.443	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		14	107	0	0	0	1	0	14	107				
MMEL1	79258	broad.mit.edu	37	1	2522995	2522995	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:2522995C>T	ENST00000378412.3	-	23	2402		c.e23+1		MMEL1_ENST00000288709.6_Splice_Site|MMEL1_ENST00000502556.1_Splice_Site			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1							endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGGAGACTTGCCTGTACTTCA	0.592																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.e23+1		membrane metallo-endopeptidase-like 1							173.0	161.0	165.0					1																	2522995		2203	4300	6503	SO:0001630	splice_region_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2522995C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2240+1G>A	1.37:g.2522995C>T						MMEL1_ENST00000502556.1_Splice_Site|MMEL1_ENST00000378412.3_Splice_Site		NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	23	2454	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)						B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Splice_Site	SNP	ENST00000378412.3	37		CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918183	0.33815	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3626	0.55211	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMEL1	2512855	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	6.868000	0.75516	1.918000	0.55548	0.561000	0.74099	.		0.592	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	Intron	12	114	0	0	0	1	0	12	114				
PIM1	5292	broad.mit.edu	37	6	37140900	37140900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:37140900G>T	ENST00000373509.5	+	5	1109	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGAGCATGACGAAGAGATCAT	0.532			T	BCL6	NHL																																	ENST00000373509.5				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30						c.(736-738)Gaa>Taa		pim-1 oncogene	Adenosine monophosphate(DB00131)						122.0	116.0	118.0					6																	37140900		2203	4300	6503	SO:0001587	stop_gained	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37140900G>T		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.736G>T	6.37:g.37140900G>T	ENSP00000362608:p.Glu246*					PIM1_ENST00000468243.1_3'UTR	p.E246*	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		5	1109	+			337			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Nonsense_Mutation	SNP	ENST00000373509.5	37	c.736G>T	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	40	8.504971	0.98841	.	.	ENSG00000137193	ENST00000373509	.	.	.	5.35	5.35	0.76521	.	0.056329	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	18.1853	0.89791	0.0:0.0:1.0:0.0	.	.	.	.	X	246	.	ENSP00000362608:E246X	E	+	1	0	PIM1	37248878	1.000000	0.71417	0.992000	0.48379	0.691000	0.40173	6.337000	0.72958	2.660000	0.90430	0.591000	0.81541	GAA		0.532	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			20	67	1	0	1.01871e-10	1	1.14066e-10	20	67				
RYR1	6261	broad.mit.edu	37	19	39076578	39076578	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:39076578G>A	ENST00000359596.3	+	103	14804	c.14804G>A	c.(14803-14805)gGt>gAt	p.G4935D	RYR1_ENST00000355481.4_Splice_Site_p.G4930D|RYR1_ENST00000360985.3_Splice_Site_p.G4930D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4935					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCCACCCCAGGTCTGATCATC	0.582																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e102-1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						87.0	82.0	84.0					19																	39076578		2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39076578G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14804-1G>A	19.37:g.39076578G>A						RYR1_ENST00000360985.3_Splice_Site_p.G4930_splice|RYR1_ENST00000359596.3_Splice_Site_p.G4935_splice	p.G4930_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		102	14920	+	all_cancers(60;7.91e-06)		4935					Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37	c.14788_splice	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533611	0.27387	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99060	-5.38;-5.38;-5.38	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.64402	U	0.000002	D	0.99492	0.9819	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98175	1.0454	9	.	.	.	.	17.4182	0.87506	0.0:0.0:1.0:0.0	.	4930;4935	P21817-2;P21817	.;RYR1_HUMAN	D	4935;4930;4930	ENSP00000352608:G4935D;ENSP00000347667:G4930D;ENSP00000354254:G4930D	.	G	+	2	0	RYR1	43768418	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	9.656000	0.98514	2.423000	0.82170	0.650000	0.86243	GGT		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	21	44	0	0	0	1	0	21	44				
MYO16	23026	broad.mit.edu	37	13	109475564	109475564	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:109475564C>A	ENST00000357550.2	+	8	1010	c.969C>A	c.(967-969)acC>acA	p.T323T	MYO16_ENST00000251041.5_Silent_p.T323T|MYO16_ENST00000356711.2_Silent_p.T323T	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGCTTCTACCTTAGCTCAAG	0.418																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(967-969)acC>acA		myosin XVI							146.0	154.0	152.0					13																	109475564		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109475564C>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.969C>A	13.37:g.109475564C>A						MYO16_ENST00000357550.2_Silent_p.T323T|MYO16_ENST00000251041.5_Silent_p.T323T	p.T323T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		9	1095	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		323						Silent	SNP	ENST00000357550.2	37	c.969C>A	CCDS32008.1																																																																																				0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		43	98	1	0	1.8453e-21	1	2.28967e-21	43	98				
TLL2	7093	broad.mit.edu	37	10	98129948	98129948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:98129948G>T	ENST00000357947.3	-	20	3012	c.2787C>A	c.(2785-2787)taC>taA	p.Y929*		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	929	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTCCACGCCGTAGCCGTCCT	0.607																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2785-2787)taC>taA		tolloid-like 2							102.0	83.0	89.0					10																	98129948		2203	4300	6503	SO:0001587	stop_gained	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98129948G>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2787C>A	10.37:g.98129948G>T	ENSP00000350630:p.Tyr929*						p.Y929*	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	20	3012	-		Colorectal(252;0.0846)	929			CUB 5.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Nonsense_Mutation	SNP	ENST00000357947.3	37	c.2787C>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	40	7.992344	0.98599	.	.	ENSG00000095587	ENST00000357947	.	.	.	4.19	-1.46	0.08800	.	0.000000	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5329	0.44988	0.8232:0.0:0.1768:0.0	.	.	.	.	X	929	.	ENSP00000350630:Y929X	Y	-	3	2	TLL2	98119938	0.385000	0.25172	0.898000	0.35279	0.894000	0.52154	-0.160000	0.10041	-0.142000	0.11354	0.511000	0.50034	TAC		0.607	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			20	49	1	0	0.00047179	1	0.000487837	20	49				
RPSAP58	388524	broad.mit.edu	37	19	24010155	24010155	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:24010155T>A	ENST00000496398.1	+	4	615	c.192T>A	c.(190-192)gcT>gcA	p.A64A	RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Silent_p.A64A|RP11-255H23.4_ENST00000599944.1_lincRNA					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CAGCTCGTGCTATTGTTGCCA	0.473																																						ENST00000496398.1																			0				endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						c.(190-192)gcT>gcA																																						SO:0001819	synonymous_variant	388524							g.chr19:24010155T>A			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.192T>A	19.37:g.24010155T>A						RPSAP58_ENST00000354585.4_Silent_p.A64A|RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA	p.A64A							4	615	+									Silent	SNP	ENST00000496398.1	37	c.192T>A																																																																																					0.473	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662		10	62	0	0	0	1	0	10	62				
ERCC5	2073	broad.mit.edu	37	13	103515434	103515434	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:103515434G>A	ENST00000355739.4	+	8	3358	c.1935G>A	c.(1933-1935)tcG>tcA	p.S645S	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.G1071R	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	645					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAATTGACTCGGAAGAAAGTG	0.443			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000602836.1			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073		"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E					0											c.(3211-3213)Gga>Aga									57.0	57.0	57.0					13																	103515434		2203	4300	6503	SO:0001819	synonymous_variant	100533467		Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103515434G>A	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1935G>A	13.37:g.103515434G>A						ERCC5_ENST00000355739.4_Silent_p.S645S	p.G1071R	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			16	3211	+			0					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.3211G>A	CCDS32004.1																																																																																				0.443	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			12	57	0	0	0	1	0	12	57				
NSUN5	55695	broad.mit.edu	37	7	72721457	72721457	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:72721457G>A	ENST00000252594.6	-	4	449	c.434C>T	c.(433-435)aCc>aTc	p.T145I	NSUN5_ENST00000310326.8_Missense_Mutation_p.T145I|NSUN5_ENST00000438747.2_Missense_Mutation_p.T145I|NSUN5_ENST00000428206.1_Missense_Mutation_p.T107I			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	145					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				ATCGGAGCAGGTCTTGAGAGT	0.542																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(319-321)aCc>aTc		NOP2/Sun domain family, member 5							102.0	94.0	97.0					7																	72721457		2203	4300	6503	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72721457G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.434C>T	7.37:g.72721457G>A	ENSP00000252594:p.Thr145Ile					NSUN5_ENST00000438747.2_Missense_Mutation_p.T145I|NSUN5_ENST00000310326.8_Missense_Mutation_p.T145I|NSUN5_ENST00000252594.6_Missense_Mutation_p.T145I	p.T107I	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			4	333	-		Lung NSC(55;0.163)	145					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.320C>T	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480933	0.63849	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	L	0.60957	1.885	0.52099	D	0.999944	P;D;D;P	0.63880	0.923;0.966;0.993;0.831	B;P;P;B	0.49361	0.354;0.608;0.484;0.355	T	0.03423	-1.1038	10	0.33940	T	0.23	.	15.9496	0.79823	0.0:0.0:1.0:0.0	.	145;107;145;145	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	I	107;145;145;145	ENSP00000393081:T107I;ENSP00000252594:T145I;ENSP00000388464:T145I;ENSP00000309126:T145I	ENSP00000252594:T145I	T	-	2	0	NSUN5	72359393	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	8.886000	0.92447	2.213000	0.71641	0.485000	0.47835	ACC		0.542	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		32	96	0	0	0	1	0	32	96				
CA12	771	broad.mit.edu	37	15	63620322	63620322	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:63620322G>C	ENST00000178638.3	-	9	1322	c.882C>G	c.(880-882)gtC>gtG	p.V294V	CA12_ENST00000422263.2_Intron|CA12_ENST00000560666.1_Intron|CA12_ENST00000344366.3_Intron	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	294					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CCGCAGTACAGACTTGCACTT	0.527																																						ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(880-882)gtC>gtG		carbonic anhydrase XII	Acetazolamide(DB00819)						80.0	72.0	75.0					15																	63620322		2203	4300	6503	SO:0001819	synonymous_variant	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63620322G>C	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.882C>G	15.37:g.63620322G>C						CA12_ENST00000560666.1_Intron|CA12_ENST00000344366.3_Intron|CA12_ENST00000422263.2_Intron	p.V294V	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			9	1322	-			294					B2RE24|Q53YE5|Q9BWG2	Silent	SNP	ENST00000178638.3	37	c.882C>G	CCDS10185.1																																																																																				0.527	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		9	43	0	0	0	1	0	9	43				
SSPO	23145	broad.mit.edu	37	7	149519621	149519621	+	RNA	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:149519621T>A	ENST00000378016.2	+	0	13111							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGAGCAGCTGGAGCAGCTG	0.721																																						ENST00000378016.2																			0													SCO-spondin							18.0	22.0	21.0					7																	149519621		2062	4191	6253			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149519621T>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149519621T>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	13111	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.721	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				12	23	0	0	0	1	0	12	23				
CDH18	1016	broad.mit.edu	37	5	19473591	19473591	+	Missense_Mutation	SNP	G	G	A	rs368650801		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:19473591G>A	ENST00000507958.1	-	15	3107	c.2117C>T	c.(2116-2118)aCc>aTc	p.T706I	CDH18_ENST00000274170.4_Missense_Mutation_p.T706I|CDH18_ENST00000382275.1_Missense_Mutation_p.T706I|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	706					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T706N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCTTTCCAGGGTGGATGATGT	0.493																																						ENST00000507958.1																			2	Substitution - Missense(2)	p.T706N(2)	lung(2)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(2116-2118)aCc>aTc		cadherin 18, type 2		G	,ILE/THR	2,4404	4.2+/-10.8	0,2,2201	187.0	163.0	171.0		,2117	6.0	1.0	5		171	0,8600		0,0,4300	no	utr-3,missense	CDH18	NM_001167667.1,NM_004934.3	,89	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,benign	,706/791	19473591	2,13004	2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473591G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2117C>T	5.37:g.19473591G>A	ENSP00000425093:p.Thr706Ile					CDH18_ENST00000274170.4_Missense_Mutation_p.T706I|CDH18_ENST00000382275.1_Missense_Mutation_p.T706I|CDH18_ENST00000510297.1_5'UTR	p.T706I			Q13634	CAD18_HUMAN			15	3107	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		706					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2117C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241845	0.22796	4.54E-4	0.0	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.76060	-0.99;-0.99;-0.99	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	3.492290	0.00575	N	0.000310	T	0.64338	0.2589	N	0.11106	0.095	0.29877	N	0.826356	B	0.06786	0.001	B	0.10450	0.005	T	0.45673	-0.9245	9	.	.	.	.	15.4837	0.75548	0.0:0.1388:0.8612:0.0	.	706	Q13634	CAD18_HUMAN	I	706	ENSP00000371710:T706I;ENSP00000425093:T706I;ENSP00000274170:T706I	.	T	-	2	0	CDH18	19509348	0.963000	0.33076	0.998000	0.56505	0.442000	0.32017	3.485000	0.53208	2.861000	0.98227	0.650000	0.86243	ACC		0.493	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		23	104	0	0	0	1	0	23	104				
EMILIN2	84034	broad.mit.edu	37	18	2891730	2891730	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:2891730C>A	ENST00000254528.3	+	4	1764	c.1605C>A	c.(1603-1605)gtC>gtA	p.V535V		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	535					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ATGAACGGGTCATGATGGAAT	0.532																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(1603-1605)gtC>gtA		elastin microfibril interfacer 2							81.0	79.0	80.0					18																	2891730		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891730C>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1605C>A	18.37:g.2891730C>A							p.V535V	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1764	+			535					B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.1605C>A	CCDS11828.1																																																																																				0.532	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		20	96	1	0	1.40151e-16	1	1.65139e-16	20	96				
GRB14	2888	broad.mit.edu	37	2	165383572	165383572	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:165383572T>C	ENST00000263915.3	-	4	1093	c.555A>G	c.(553-555)ctA>ctG	p.L185L	GRB14_ENST00000543549.1_Silent_p.L98L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	185	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTAAAGTATAGTTTGTTTT	0.328																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(553-555)ctA>ctG		growth factor receptor-bound protein 14							104.0	104.0	104.0					2																	165383572		2202	4295	6497	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165383572T>C		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.555A>G	2.37:g.165383572T>C						GRB14_ENST00000543549.1_Silent_p.L98L	p.L185L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			4	1093	-			185			Ras-associating.		B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.555A>G	CCDS2222.1																																																																																				0.328	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			41	72	0	0	0	1	0	41	72				
KRT9	3857	broad.mit.edu	37	17	39725676	39725676	+	Splice_Site	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39725676A>G	ENST00000246662.4	-	4	1110		c.e4+1		KRT9_ENST00000588431.1_Splice_Site	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9						epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CACTCTGCTCACCTGAGTCTC	0.502																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.e4+1		keratin 9							184.0	154.0	164.0					17																	39725676		2203	4300	6503	SO:0001630	splice_region_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39725676A>G		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1044+1T>C	17.37:g.39725676A>G						KRT9_ENST00000588431.1_Splice_Site		NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			4	1110	-		Breast(137;0.000307)						O00109|Q0IJ47|Q14665	Splice_Site	SNP	ENST00000246662.4	37		CCDS32654.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281463	0.80692	.	.	ENSG00000171403	ENST00000246662	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7678	0.57401	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT9	36979202	1.000000	0.71417	0.983000	0.44433	0.674000	0.39518	5.303000	0.65738	1.396000	0.46663	0.459000	0.35465	.		0.502	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	Intron	8	44	0	0	0	1	0	8	44				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	77	0	0	0	1	0	4	77				
GRM8	2918	broad.mit.edu	37	7	126173740	126173740	+	Missense_Mutation	SNP	G	G	T	rs537993632		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:126173740G>T	ENST00000339582.2	-	9	2504	c.1696C>A	c.(1696-1698)Cgc>Agc	p.R566S	GRM8_ENST00000444921.2_Missense_Mutation_p.R566S|GRM8_ENST00000358373.3_Missense_Mutation_p.R566S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	566					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R566S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CAGCCTGTGCGGTTCATGTTG	0.532										HNSCC(24;0.065)																												ENST00000339582.2																			1	Substitution - Missense(1)	p.R566S(1)	lung(1)	breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1696-1698)Cgc>Agc		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						143.0	127.0	132.0					7																	126173740		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173740G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1696C>A	7.37:g.126173740G>T	ENSP00000344173:p.Arg566Ser	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.R566S|GRM8_ENST00000358373.3_Missense_Mutation_p.R566S|GRM8_ENST00000480995.1_5'UTR	p.R566S			O00222	GRM8_HUMAN			9	2504	-		Prostate(267;0.186)	566					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1696C>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592822	0.66219	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89746	-2.48;-2.48;-2.56	5.8	5.8	0.92144	.	0.048215	0.85682	D	0.000000	D	0.95239	0.8456	M	0.87682	2.9	0.80722	D	1	D;P	0.71674	0.998;0.611	D;B	0.80764	0.994;0.241	D	0.94467	0.7681	10	0.44086	T	0.13	.	19.0428	0.93008	0.0:0.0:1.0:0.0	.	566;566	O00222-2;O00222	.;GRM8_HUMAN	S	566	ENSP00000344173:R566S;ENSP00000409790:R566S;ENSP00000351142:R566S	ENSP00000344173:R566S	R	-	1	0	GRM8	125960976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.589000	0.67523	2.758000	0.94735	0.643000	0.83706	CGC		0.532	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			22	72	1	0	7.92952e-12	1	8.96124e-12	22	72				
KLHL4	56062	broad.mit.edu	37	X	86919928	86919928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:86919928G>A	ENST00000373119.4	+	10	2235	c.2090G>A	c.(2089-2091)tGg>tAg	p.W697*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.W697*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	697						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGAAATGAATGGAAAGAGGTA	0.318																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(2089-2091)tGg>tAg		kelch-like family member 4							95.0	71.0	79.0					X																	86919928		2203	4300	6503	SO:0001587	stop_gained	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919928G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2090G>A	X.37:g.86919928G>A	ENSP00000362211:p.Trp697*					KLHL4_ENST00000373114.4_Nonsense_Mutation_p.W697*	p.W697*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			10	2235	+			697					B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	ENST00000373119.4	37	c.2090G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	37	6.251896	0.97412	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	4.06	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2896	0.66268	0.0:0.0:1.0:0.0	.	.	.	.	X	697	.	ENSP00000362206:W697X	W	+	2	0	KLHL4	86806584	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	8.351000	0.90072	2.000000	0.58554	0.415000	0.27848	TGG		0.318	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			21	39	0	0	0	1	0	21	39				
KRT36	8689	broad.mit.edu	37	17	39645834	39645834	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39645834C>T	ENST00000328119.6	-	1	282	c.283G>A	c.(283-285)Gag>Aag	p.E95K	KRT36_ENST00000393986.2_Missense_Mutation_p.E45K	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	95	Coil 1A.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGCATAGTCTCCTTCTCGCTG	0.627																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(133-135)Gag>Aag		keratin 36							100.0	97.0	98.0					17																	39645834		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39645834C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.283G>A	17.37:g.39645834C>T	ENSP00000329165:p.Glu95Lys					KRT36_ENST00000328119.6_Missense_Mutation_p.E95K	p.E45K			O76013	KRT36_HUMAN			2	345	-		Breast(137;0.000286)	95			Head.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.133G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902459	0.72754	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.90004	-2.6;-2.6	5.57	5.57	0.84162	Filament (1);	0.141462	0.31519	N	0.007517	D	0.94466	0.8219	M	0.91406	3.205	0.26505	N	0.9747	P	0.45348	0.856	D	0.65233	0.933	D	0.89552	0.3800	10	0.59425	D	0.04	.	7.5122	0.27579	0.0:0.7153:0.143:0.1417	.	95	O76013	KRT36_HUMAN	K	45;95	ENSP00000377555:E45K;ENSP00000329165:E95K	ENSP00000329165:E95K	E	-	1	0	KRT36	36899360	0.009000	0.17119	1.000000	0.80357	0.876000	0.50452	0.176000	0.16782	2.620000	0.88729	0.563000	0.77884	GAG		0.627	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		35	117	0	0	0	1	0	35	117				
MTBP	27085	broad.mit.edu	37	8	121463247	121463247	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:121463247T>G	ENST00000305949.1	+	3	249	c.204T>G	c.(202-204)tgT>tgG	p.C68W		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	68					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCAAGCCTGTTCAGTGGGAG	0.333																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(202-204)tgT>tgG		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							164.0	164.0	164.0					8																	121463247		2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121463247T>G		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.204T>G	8.37:g.121463247T>G	ENSP00000303398:p.Cys68Trp						p.C68W	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	249	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		68					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.204T>G	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046677	0.55110	.	.	ENSG00000172167	ENST00000305949	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.73917	-0.3831	9	0.87932	D	0	-14.2911	7.9848	0.30205	0.0:0.1628:0.0:0.8372	.	68;68	Q96DY7;B4DUR5	MTBP_HUMAN;.	W	68	.	ENSP00000303398:C68W	C	+	3	2	MTBP	121532428	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.097000	0.30988	1.781000	0.52344	0.450000	0.29827	TGT		0.333	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		11	119	0	0	0	1	0	11	119				
ZNF721	170960	broad.mit.edu	37	4	435877	435877	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:435877G>C	ENST00000338977.5	-	2	2391	c.2343C>G	c.(2341-2343)tcC>tcG	p.S781S	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Silent_p.S793S			Q8TF20	ZN721_HUMAN	zinc finger protein 721	781					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CAAAGCTTGAGGATGACGTAA	0.368																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2341-2343)tcC>tcG		zinc finger protein 721							68.0	73.0	72.0					4																	435877		2106	4236	6342	SO:0001819	synonymous_variant	170960							g.chr4:435877G>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2343C>G	4.37:g.435877G>C						ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Silent_p.S793S|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA	p.S781S							2	2391	-								Q69YG7	Silent	SNP	ENST00000338977.5	37	c.2343C>G																																																																																					0.368	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		23	41	0	0	0	1	0	23	41				
SH3PXD2B	285590	broad.mit.edu	37	5	171780911	171780911	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:171780911C>T	ENST00000311601.5	-	9	936	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E256K	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	256	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACCAGCCTTCCAGGTTTTTC	0.592																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(766-768)Gaa>Aaa		SH3 and PX domains 2B							85.0	74.0	78.0					5																	171780911		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171780911C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.766G>A	5.37:g.171780911C>T	ENSP00000309714:p.Glu256Lys					SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E256K	p.E256K	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	936	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	256			SH3 2.		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.766G>A	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153779	0.94645	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.31247	1.5;1.5	5.43	5.43	0.79202	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.50457	-0.8826	10	0.87932	D	0	-21.4608	16.7337	0.85442	0.0:1.0:0.0:0.0	.	256	A1X283	SPD2B_HUMAN	K	256	ENSP00000430890:E256K;ENSP00000309714:E256K	ENSP00000309714:E256K	E	-	1	0	SH3PXD2B	171713516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.549000	0.85964	0.561000	0.74099	GAA		0.592	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		13	24	0	0	0	1	0	13	24				
NPHP4	261734	broad.mit.edu	37	1	5965750	5965750	+	Nonsense_Mutation	SNP	G	G	A	rs113413307	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:5965750G>A	ENST00000378156.4	-	14	1970	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	569					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGCTCCTGTAACTGTTCG	0.592																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1705-1707)Cag>Tag		nephronophthisis 4							50.0	55.0	54.0					1																	5965750		2032	4178	6210	SO:0001587	stop_gained	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5965750G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1705C>T	1.37:g.5965750G>A	ENSP00000367398:p.Gln569*					NPHP4_ENST00000478423.2_5'UTR	p.Q569*	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	14	1970	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	569					Q8IWC0	Nonsense_Mutation	SNP	ENST00000378156.4	37	c.1705C>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	42	9.461194	0.99177	.	.	ENSG00000131697	ENST00000378156	.	.	.	5.42	5.42	0.78866	.	0.272836	0.30338	N	0.009849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	13.5778	0.61885	0.0771:0.0:0.9229:0.0	.	.	.	.	X	569	.	ENSP00000367398:Q569X	Q	-	1	0	NPHP4	5888337	1.000000	0.71417	0.973000	0.42090	0.785000	0.44390	5.771000	0.68881	2.529000	0.85273	0.561000	0.74099	CAG		0.592	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			4	23	0	0	0	1	0	4	23				
DPP6	1804	broad.mit.edu	37	7	154519500	154519500	+	Missense_Mutation	SNP	C	C	G	rs61736428	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:154519500C>G	ENST00000377770.3	+	8	927	c.786C>G	c.(784-786)atC>atG	p.I262M	DPP6_ENST00000404039.1_Missense_Mutation_p.I198M|DPP6_ENST00000427557.1_Missense_Mutation_p.I155M|DPP6_ENST00000332007.3_Missense_Mutation_p.I200M			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	262					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AAAACAATATCTACTACTGTG	0.373																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(592-594)atC>atG		dipeptidyl-peptidase 6							69.0	63.0	65.0					7																	154519500		1870	4106	5976	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154519500C>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.786C>G	7.37:g.154519500C>G	ENSP00000367001:p.Ile262Met					DPP6_ENST00000377770.3_Missense_Mutation_p.I262M|DPP6_ENST00000332007.3_Missense_Mutation_p.I200M|DPP6_ENST00000427557.1_Missense_Mutation_p.I155M	p.I198M	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		8	1181	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	262						Missense_Mutation	SNP	ENST00000377770.3	37	c.594C>G		.	.	.	.	.	.	.	.	.	.	C	17.65	3.441712	0.63067	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.91	4.91	0.64330	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.71581	2.175	0.53688	D	0.999972	D;D;D;D	0.89917	1.0;0.991;0.993;0.993	D;D;D;D	0.80764	0.994;0.985;0.991;0.991	T	0.66152	-0.5995	10	0.87932	D	0	-34.0016	18.1102	0.89533	0.0:1.0:0.0:0.0	.	155;200;262;198	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	M	198;262;200;155	ENSP00000385578:I198M;ENSP00000367001:I262M;ENSP00000328226:I200M;ENSP00000397303:I155M	ENSP00000328226:I200M	I	+	3	3	DPP6	154150433	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.431000	0.44775	2.269000	0.75478	0.591000	0.81541	ATC		0.373	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		13	33	0	0	0	1	0	13	33				
FSIP2	401024	broad.mit.edu	37	2	186672313	186672313	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:186672313C>A	ENST00000424728.1	+	17	18280	c.18280C>A	c.(18280-18282)Cca>Aca	p.P6094T	FSIP2_ENST00000343098.5_Missense_Mutation_p.P6183T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6094										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAATCTCTTGCCACAGTTTGG	0.333																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18547-18549)Cca>Aca		fibrous sheath interacting protein 2							80.0	77.0	78.0					2																	186672313		1828	4075	5903	SO:0001583	missense	401024							g.chr2:186672313C>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18280C>A	2.37:g.186672313C>A	ENSP00000401306:p.Pro6094Thr					FSIP2_ENST00000424728.1_Missense_Mutation_p.P6094T	p.P6183T	NM_173651.2	NP_775922.2					17	18547	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18547C>A		.	.	.	.	.	.	.	.	.	.	C	14.12	2.440447	0.43326	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.50548	0.74;0.74	5.26	3.34	0.38264	.	0.122641	0.37437	N	0.002084	T	0.32704	0.0838	N	0.24115	0.695	0.29007	N	0.887115	.	.	.	.	.	.	T	0.20538	-1.0272	8	0.46703	T	0.11	.	4.5277	0.11990	0.0:0.6509:0.0:0.3491	.	.	.	.	T	6183;6094	ENSP00000344403:P6183T;ENSP00000401306:P6094T	ENSP00000344403:P6183T	P	+	1	0	FSIP2	186380558	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.535000	0.36061	0.677000	0.31305	-0.229000	0.12294	CCA		0.333	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		56	95	1	0	2.64514e-33	1	3.39292e-33	56	95				
SEMA6B	10501	broad.mit.edu	37	19	4555498	4555498	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:4555498C>T	ENST00000586582.1	-	7	860	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SEMA6B_ENST00000586965.1_Missense_Mutation_p.A184T|SEMA6B_ENST00000301293.3_Missense_Mutation_p.A184T	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	184	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGAGGGCAACATTGGCG	0.592																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(550-552)Gcc>Acc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							102.0	93.0	96.0					19																	4555498		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4555498C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.550G>A	19.37:g.4555498C>T	ENSP00000467290:p.Ala184Thr					SEMA6B_ENST00000586965.1_Missense_Mutation_p.A184T|SEMA6B_ENST00000301293.3_Missense_Mutation_p.A184T	p.A184T	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	7	860	-		Hepatocellular(1079;0.137)	184			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.550G>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925693	0.92319	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.11277	2.79	3.33	3.33	0.38152	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.121890	0.53938	D	0.000042	T	0.35038	0.0918	M	0.85197	2.74	0.46749	D	0.99918	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	T	0.35076	-0.9803	10	0.87932	D	0	.	12.9161	0.58207	0.0:1.0:0.0:0.0	.	184;184	B4DT36;Q9H3T3	.;SEM6B_HUMAN	T	184	ENSP00000301293:A184T	ENSP00000301292:A184T	A	-	1	0	SEMA6B	4506498	1.000000	0.71417	0.968000	0.41197	0.853000	0.48598	5.672000	0.68102	2.164000	0.68074	0.305000	0.20034	GCC		0.592	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		18	29	0	0	0	1	0	18	29				
ZNF733P	643955	broad.mit.edu	37	7	62752623	62752623	+	RNA	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:62752623G>A	ENST00000331425.6	-	0	812					NR_003952.1				zinc finger protein 733, pseudogene																		AAGTGCTGAGGAGCGCCTAAA	0.458																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752623G>A			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752623G>A								NR_003952.1						0	812	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.458	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			14	70	0	0	0	1	0	14	70				
OR10AD1	121275	broad.mit.edu	37	12	48596810	48596810	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:48596810C>T	ENST00000310248.2	-	1	360	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AATGTGGTCCCTGACCACGAG	0.512																																						ENST00000310248.2																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						c.(265-267)aGg>aAg		olfactory receptor, family 10, subfamily AD, member 1							116.0	96.0	103.0					12																	48596810		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596810C>T		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.266G>A	12.37:g.48596810C>T	ENSP00000308689:p.Arg89Lys						p.R89K	NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN			1	360	-			89					B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.266G>A	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.533078	0.00951	.	.	ENSG00000172640	ENST00000310248	T	0.02890	4.12	4.82	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	N	0.000974	T	0.01092	0.0036	N	0.03294	-0.36	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48958	-0.8988	10	0.02654	T	1	-5.6439	5.43	0.16448	0.0:0.3128:0.0:0.6872	.	89	Q8NGE0	O10AD_HUMAN	K	89	ENSP00000308689:R89K	ENSP00000308689:R89K	R	-	2	0	OR10AD1	46883077	0.000000	0.05858	0.924000	0.36721	0.153000	0.21895	-0.104000	0.10923	0.973000	0.38340	-0.302000	0.09304	AGG		0.512	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			16	30	0	0	0	1	0	16	30				
KDM2B	84678	broad.mit.edu	37	12	121880319	121880319	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:121880319C>T	ENST00000377071.4	-	19	2997	c.2925G>A	c.(2923-2925)tcG>tcA	p.S975S	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.S343S|KDM2B_ENST00000377069.4_Silent_p.S906S	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	975					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTCAGGCTCCGACTTGATGG	0.667																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2716-2718)tcG>tcA		lysine (K)-specific demethylase 2B							29.0	33.0	32.0					12																	121880319		2137	4252	6389	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880319C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2925G>A	12.37:g.121880319C>T						KDM2B_ENST00000377071.4_Silent_p.S975S|KDM2B_ENST00000542973.1_Silent_p.S343S|KDM2B_ENST00000536437.1_Intron	p.S906S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3124	-			975					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2718G>A	CCDS41850.1																																																																																				0.667	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		9	33	0	0	0	1	0	9	33				
RYR3	6263	broad.mit.edu	37	15	34042180	34042180	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:34042180G>A	ENST00000389232.4	+	56	8270	c.8200G>A	c.(8200-8202)Gga>Aga	p.G2734R	RYR3_ENST00000415757.3_Splice_Site_p.G2734R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2734	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)		TGGGACACAGGGAATGGTGGA	0.517																																						ENST00000389232.4																			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.e56-1		ryanodine receptor 3							104.0	107.0	106.0					15																	34042180		1971	4173	6144	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34042180G>A		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.8200-1G>A	15.37:g.34042180G>A						RYR3_ENST00000415757.3_Splice_Site_p.G2734_splice	p.G2734_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	56	8270	+		all_lung(180;7.18e-09)	2734			4 X approximate repeats.		O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.8199_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433635	0.62955	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91068	-2.78;-2.78	5.37	4.44	0.53790	Ryanodine receptor Ryr (1);	0.144532	0.45606	D	0.000353	D	0.85809	0.5783	N	0.14661	0.345	0.58432	D	0.99999	P;P	0.39862	0.692;0.578	B;P	0.50708	0.446;0.648	T	0.81874	-0.0732	9	.	.	.	.	8.8487	0.35186	0.0754:0.0:0.7748:0.1498	.	2734;2734	Q15413-2;Q15413	.;RYR3_HUMAN	R	2734	ENSP00000373884:G2734R;ENSP00000399610:G2734R	.	G	+	1	0	RYR3	31829472	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.271000	0.51608	2.676000	0.91093	0.655000	0.94253	GGA		0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	4	19	0	0	0	1	0	4	19				
COL8A2	1296	broad.mit.edu	37	1	36564294	36564294	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:36564294C>G	ENST00000397799.1	-	4	1212	c.988G>C	c.(988-990)Gct>Cct	p.A330P	COL8A2_ENST00000303143.4_Missense_Mutation_p.A330P|COL8A2_ENST00000481785.1_Missense_Mutation_p.A265P			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	330	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACCCCAGCTGGGCCCCTG	0.721																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(988-990)Gct>Cct		collagen, type VIII, alpha 2							10.0	12.0	12.0					1																	36564294		2015	3977	5992	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564294C>G	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.988G>C	1.37:g.36564294C>G	ENSP00000380901:p.Ala330Pro					COL8A2_ENST00000303143.4_Missense_Mutation_p.A330P|COL8A2_ENST00000481785.1_Missense_Mutation_p.A265P	p.A330P			P25067	CO8A2_HUMAN			4	1212	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	330			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.988G>C	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	7.111	0.576091	0.13623	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.93712	-3.27;-3.27;-3.27	3.83	3.83	0.44106	.	0.427134	0.25747	N	0.028574	T	0.75243	0.3823	N	0.01140	-0.99	0.31444	N	0.671573	B	0.02656	0.0	B	0.12156	0.007	T	0.70117	-0.4960	10	0.02654	T	1	.	7.0403	0.25017	0.1621:0.5844:0.2535:0.0	.	330	P25067	CO8A2_HUMAN	P	330;330;265	ENSP00000305913:A330P;ENSP00000380901:A330P;ENSP00000436433:A265P	ENSP00000305913:A330P	A	-	1	0	COL8A2	36336881	0.050000	0.20438	1.000000	0.80357	0.922000	0.55478	0.556000	0.23438	1.971000	0.57363	0.407000	0.27541	GCT		0.721	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		7	14	0	0	0	1	0	7	14				
CACNA1E	777	broad.mit.edu	37	1	181731778	181731778	+	Silent	SNP	C	C	A	rs549521037		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:181731778C>A	ENST00000367573.2	+	33	4674	c.4674C>A	c.(4672-4674)atC>atA	p.I1558I	CACNA1E_ENST00000367567.4_Silent_p.I1165I|CACNA1E_ENST00000526775.1_Silent_p.I1539I|CACNA1E_ENST00000357570.5_Silent_p.I1509I|CACNA1E_ENST00000367570.1_Silent_p.I1558I|CACNA1E_ENST00000358338.5_Silent_p.I1490I|CACNA1E_ENST00000360108.3_Silent_p.I1539I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1558					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGAAATTATCCTGACAGACA	0.398																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4615-4617)atC>atA		calcium channel, voltage-dependent, R type, alpha 1E subunit							86.0	78.0	81.0					1																	181731778		1897	4118	6015	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181731778C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4674C>A	1.37:g.181731778C>A						CACNA1E_ENST00000367570.1_Silent_p.I1558I|CACNA1E_ENST00000367573.2_Silent_p.I1558I|CACNA1E_ENST00000357570.5_Silent_p.I1509I|CACNA1E_ENST00000360108.3_Silent_p.I1539I|CACNA1E_ENST00000367567.4_Silent_p.I1165I|CACNA1E_ENST00000358338.5_Silent_p.I1490I	p.I1539I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			32	4782	+			1558					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.4617C>A	CCDS55664.1																																																																																				0.398	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		30	27	1	0	1.06801e-11	1	1.20473e-11	30	27				
HNRNPU	3192	broad.mit.edu	37	1	245021346	245021346	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:245021346T>C	ENST00000283179.9	-	7	1624	c.1461A>G	c.(1459-1461)ggA>ggG	p.G487G	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_Silent_p.G468G			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	487					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GCCCCTTTGGTCCTCTAACTC	0.373																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1402-1404)ggA>ggG		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							69.0	69.0	69.0					1																	245021346		2203	4300	6503	SO:0001819	synonymous_variant	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245021346T>C	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1461A>G	1.37:g.245021346T>C						HNRNPU_ENST00000283179.9_Silent_p.G487G	p.G468G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		7	1638	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		487					O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	c.1404A>G	CCDS41479.1																																																																																				0.373	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		24	51	0	0	0	1	0	24	51				
OR13C9	286362	broad.mit.edu	37	9	107379976	107379976	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:107379976C>T	ENST00000259362.1	-	1	509	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R170R(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGACATTCTTCCTGCAGAAAG	0.448																																						ENST00000259362.1																			1	Substitution - coding silent(1)	p.R170R(1)	skin(1)	breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(508-510)agG>agA		olfactory receptor, family 13, subfamily C, member 9							124.0	104.0	111.0					9																	107379976		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379976C>T		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.510G>A	9.37:g.107379976C>T							p.R170R	NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN			1	509	-			170					Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.510G>A	CCDS35093.1																																																																																				0.448	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			38	109	0	0	0	1	0	38	109				
C8B	732	broad.mit.edu	37	1	57406547	57406547	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:57406547T>C	ENST00000371237.4	-	9	1439	c.1373A>G	c.(1372-1374)tAc>tGc	p.Y458C	C8B_ENST00000535057.1_Missense_Mutation_p.Y396C|C8B_ENST00000543257.1_Missense_Mutation_p.Y406C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	458	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGCTGGGTTGTACTGCACAGC	0.562																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(1216-1218)tAc>tGc		complement component 8, beta polypeptide							171.0	137.0	148.0					1																	57406547		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57406547T>C	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1373A>G	1.37:g.57406547T>C	ENSP00000360281:p.Tyr458Cys					C8B_ENST00000535057.1_Missense_Mutation_p.Y396C|C8B_ENST00000371237.4_Missense_Mutation_p.Y458C	p.Y406C	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			10	1783	-			458			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1217A>G	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756334	0.69648	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.84442	-1.85;-1.85;-1.85	5.25	4.05	0.47172	Membrane attack complex component/perforin (MACPF) domain (3);	0.189488	0.47455	D	0.000238	D	0.91157	0.7215	M	0.81682	2.555	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.98;0.988;0.993	D	0.90447	0.4436	10	0.38643	T	0.18	-21.517	11.9371	0.52880	0.1299:0.0:0.0:0.8701	.	406;396;458	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	C	458;406;396	ENSP00000360281:Y458C;ENSP00000442548:Y406C;ENSP00000440113:Y396C	ENSP00000360281:Y458C	Y	-	2	0	C8B	57179135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.276000	0.51646	2.097000	0.63578	0.533000	0.62120	TAC		0.562	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			16	59	0	0	0	1	0	16	59				
HYDIN	54768	broad.mit.edu	37	16	70917990	70917990	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:70917990C>A	ENST00000393567.2	-	59	9962	c.9812G>T	c.(9811-9813)gGg>gTg	p.G3271V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3271					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGCCAAACCCAGGGTACAC	0.567																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(9811-9813)gGg>gTg		HYDIN, axonemal central pair apparatus protein							14.0	14.0	14.0					16																	70917990		1959	4133	6092	SO:0001583	missense	54768							g.chr16:70917990C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9812G>T	16.37:g.70917990C>A	ENSP00000377197:p.Gly3271Val						p.G3271V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			59	9962	-		Ovarian(137;0.0654)	3271					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9812G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194399	0.38806	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00912	5.55	5.01	5.01	0.66863	.	0.000000	0.33438	U	0.004913	T	0.02012	0.0063	M	0.74881	2.28	0.80722	D	1	B	0.17038	0.02	B	0.17098	0.017	T	0.56092	-0.8036	10	0.17832	T	0.49	.	17.9159	0.88950	0.0:1.0:0.0:0.0	.	3270	F8WD23	.	V	3271;3270	ENSP00000377197:G3271V	ENSP00000313052:G3270V	G	-	2	0	HYDIN	69475491	0.796000	0.28864	0.999000	0.59377	0.363000	0.29612	2.710000	0.47169	2.325000	0.78763	0.511000	0.50034	GGG		0.567	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	11	1	0	1	1	1	5	11				
PCDHB10	56126	broad.mit.edu	37	5	140574456	140574456	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140574456G>A	ENST00000239446.4	+	1	2515	c.2331G>A	c.(2329-2331)caG>caA	p.Q777Q		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	777					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGATATTCAGGCACAGGGCC	0.458																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2329-2331)caG>caA									57.0	63.0	61.0					5																	140574456		2203	4300	6503	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574456G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2331G>A	5.37:g.140574456G>A							p.Q777Q	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2515	+			777					Q96T99	Silent	SNP	ENST00000239446.4	37	c.2331G>A	CCDS4252.1																																																																																				0.458	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		37	60	0	0	0	1	0	37	60				
HIST1H2AG	8969	broad.mit.edu	37	6	27100932	27100932	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:27100932G>T	ENST00000359193.2	+	1	101	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L	HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	28						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CCAGTTCCCCGTGGGCCGAGT	0.667																																						ENST00000359193.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						c.(82-84)Gtg>Ttg		histone cluster 1, H2ag							32.0	38.0	36.0					6																	27100932		2202	4300	6502	SO:0001583	missense	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27100932G>T	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.82G>T	6.37:g.27100932G>T	ENSP00000352119:p.Val28Leu						p.V28L	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN			1	101	+			28					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359193.2	37	c.82G>T	CCDS4619.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157684	0.57368	.	.	ENSG00000196787	ENST00000359193	T	0.73681	-0.77	4.08	4.08	0.47627	Histone-fold (2);Histone core (1);Histone H2A (3);	0.000000	0.36234	N	0.002712	T	0.63141	0.2486	.	.	.	0.36176	D	0.849098	B	0.31153	0.31	B	0.37267	0.245	T	0.72207	-0.4360	9	0.87932	D	0	.	14.6102	0.68510	0.0:0.0:1.0:0.0	.	28	P0C0S8	H2A1_HUMAN	L	28	ENSP00000352119:V28L	ENSP00000352119:V28L	V	+	1	0	HIST1H2AG	27208911	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	8.726000	0.91474	2.217000	0.71921	0.655000	0.94253	GTG		0.667	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		32	66	1	0	1.61788e-16	1	1.89898e-16	32	66				
BEND5	79656	broad.mit.edu	37	1	49208439	49208439	+	Silent	SNP	G	G	A	rs148772068		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:49208439G>A	ENST00000371833.3	-	4	836	c.750C>T	c.(748-750)ccC>ccT	p.P250P	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	250						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						GATCAATGGCGGGACCTAGGC	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19232	0.0		0.0	False		,,,				2504	0.0					ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(748-750)ccC>ccT		BEN domain containing 5							59.0	60.0	60.0					1																	49208439		2203	4300	6503	SO:0001819	synonymous_variant	79656							g.chr1:49208439G>A	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.750C>T	1.37:g.49208439G>A						AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	p.P250P	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN			4	836	-			250					D3DQ27|Q96A62|Q9HAI3	Silent	SNP	ENST00000371833.3	37	c.750C>T	CCDS552.2																																																																																				0.438	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		21	59	0	0	0	1	0	21	59				
PCLO	27445	broad.mit.edu	37	7	82579967	82579967	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:82579967G>A	ENST00000333891.9	-	6	10274	c.9937C>T	c.(9937-9939)Cgg>Tgg	p.R3313W	PCLO_ENST00000437081.1_Missense_Mutation_p.R33W|PCLO_ENST00000423517.2_Missense_Mutation_p.R3313W	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGATCTGCCGAATCTTTTGC	0.493																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9937-9939)Cgg>Tgg		piccolo presynaptic cytomatrix protein							137.0	127.0	130.0					7																	82579967		1968	4165	6133	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579967G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9937C>T	7.37:g.82579967G>A	ENSP00000334319:p.Arg3313Trp					PCLO_ENST00000333891.8_Missense_Mutation_p.R3313W|PCLO_ENST00000437081.1_Missense_Mutation_p.R33W	p.R3313W	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10274	-			3244						Missense_Mutation	SNP	ENST00000333891.9	37	c.9937C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060800	0.55432	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.36878	2.01;2.02;1.23	5.29	5.29	0.74685	.	.	.	.	.	T	0.59445	0.2194	M	0.66939	2.045	0.43598	D	0.995953	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.65773	0.548;0.938;0.938	T	0.62253	-0.6893	9	0.87932	D	0	.	19.2834	0.94061	0.0:0.0:1.0:0.0	.	3244;3313;3313	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	W	3244;3313;3313;33	ENSP00000334319:R3313W;ENSP00000388393:R3313W;ENSP00000393760:R33W	ENSP00000334319:R3313W	R	-	1	2	PCLO	82417903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.903000	0.75703	2.634000	0.89283	0.563000	0.77884	CGG		0.493	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		30	109	0	0	0	1	0	30	109				
TET2	54790	broad.mit.edu	37	4	106155065	106155065	+	5'UTR	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:106155065A>G	ENST00000540549.1	+	0	826				TET2_ENST00000394764.1_5'UTR|TET2_ENST00000413648.2_5'UTR|TET2_ENST00000545826.1_5'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.E10G|TET2_ENST00000305737.2_5'UTR|TET2_ENST00000380013.4_5'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2						5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTCAACTAGAGGGCAGCCTT	0.373			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(28-30)gAg>gGg		tet methylcytosine dioxygenase 2							38.0	33.0	34.0					4																	106155065		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155065A>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.-35A>G	4.37:g.106155065A>G						TET2_ENST00000545826.1_5'UTR|TET2_ENST00000305737.2_5'UTR|TET2_ENST00000394764.1_5'UTR|TET2_ENST00000413648.2_5'UTR|TET2_ENST00000380013.4_5'UTR|TET2_ENST00000540549.1_5'UTR	p.E10G			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	826	+		Myeloproliferative disorder(5;0.0393)	0					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.29A>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.074346	0.55646	.	.	ENSG00000168769	ENST00000513237	T	0.02498	4.27	5.4	4.22	0.49857	.	.	.	.	.	T	0.03608	0.0103	.	.	.	0.80722	D	1	B	0.18461	0.028	B	0.13407	0.009	T	0.40496	-0.9560	8	0.87932	D	0	.	11.0096	0.47654	0.9274:0.0:0.0726:0.0	.	10	E7EQS8	.	G	10	ENSP00000425443:E10G	ENSP00000425443:E10G	E	+	2	0	TET2	106374514	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.958000	0.56737	0.894000	0.36317	0.482000	0.46254	GAG		0.373	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		16	48	0	0	0	1	0	16	48				
FZD10	11211	broad.mit.edu	37	12	130647702	130647702	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:130647702C>G	ENST00000229030.4	+	1	699	c.215C>G	c.(214-216)gCg>gGg	p.A72G	FZD10_ENST00000539839.1_Silent_p.R39R|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	72	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CACGAGTTCGCGCCGCTGGTG	0.637																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(214-216)gCg>gGg		frizzled family receptor 10							41.0	40.0	40.0					12																	130647702		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647702C>G	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.215C>G	12.37:g.130647702C>G	ENSP00000229030:p.Ala72Gly					FZD10_ENST00000539839.1_Silent_p.R39R	p.A72G			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	699	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		72			FZ.			Missense_Mutation	SNP	ENST00000229030.4	37	c.215C>G	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660634	0.67586	.	.	ENSG00000111432	ENST00000229030	T	0.76060	-0.99	4.4	4.4	0.53042	Frizzled domain (5);	0.000000	0.85682	U	0.000000	T	0.77525	0.4143	M	0.64260	1.97	0.58432	D	0.999996	P	0.47484	0.896	P	0.48873	0.593	T	0.77313	-0.2634	10	0.32370	T	0.25	.	16.9898	0.86350	0.0:1.0:0.0:0.0	.	72	Q9ULW2	FZD10_HUMAN	G	72	ENSP00000229030:A72G	ENSP00000229030:A72G	A	+	2	0	FZD10	129213655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.431000	0.59915	1.983000	0.57843	0.561000	0.74099	GCG		0.637	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	56	0	0	0	1	0	6	56				
LIPA	3988	broad.mit.edu	37	10	90986712	90986712	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:90986712G>C	ENST00000336233.5	-	5	800	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V	LIPA_ENST00000371837.1_Missense_Mutation_p.L104V|LIPA_ENST00000456827.1_Missense_Mutation_p.L160V			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	160					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GTTTTATTCAGAATGAAGTTA	0.333																																						ENST00000336233.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(478-480)Ctg>Gtg		lipase A, lysosomal acid, cholesterol esterase							165.0	155.0	158.0					10																	90986712		2203	4300	6503	SO:0001583	missense	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:90986712G>C	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.478C>G	10.37:g.90986712G>C	ENSP00000337354:p.Leu160Val					LIPA_ENST00000456827.1_Missense_Mutation_p.L160V|LIPA_ENST00000371837.1_Missense_Mutation_p.L104V	p.L160V			P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	5	800	-		Colorectal(252;0.0162)	160					B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	c.478C>G	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	G	2.903	-0.227038	0.06022	.	.	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287;ENST00000428800;ENST00000282673	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.72	1.75	0.24633	Alpha/beta hydrolase fold-1 (1);	0.390235	0.26963	N	0.021610	T	0.61751	0.2372	M	0.81682	2.555	0.80722	D	1	B;B;B	0.29136	0.234;0.02;0.024	B;B;B	0.35899	0.213;0.131;0.082	T	0.52939	-0.8508	10	0.27785	T	0.31	-6.815	0.875	0.01222	0.1843:0.1581:0.3326:0.325	.	162;104;160	E7EUT7;P38571-2;P38571	.;.;LICH_HUMAN	V	160;104;160;160;118;160;162;160;160	ENSP00000337354:L160V;ENSP00000360903:L104V;ENSP00000413019:L160V;ENSP00000388415:L160V;ENSP00000282673:L160V	ENSP00000282673:L160V	L	-	1	2	LIPA	90976692	0.999000	0.42202	0.997000	0.53966	0.988000	0.76386	0.376000	0.20535	0.416000	0.25844	0.655000	0.94253	CTG		0.333	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		43	91	0	0	0	1	0	43	91				
CRAT	1384	broad.mit.edu	37	9	131860427	131860427	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:131860427C>T	ENST00000318080.2	-	11	1623	c.1329G>A	c.(1327-1329)agG>agA	p.R443R	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	443					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTCCGTAGATCCTGGTGGGAA	0.652																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.e11-1		carnitine O-acetyltransferase	L-Carnitine(DB00583)						109.0	109.0	109.0					9																	131860427		2203	4300	6503	SO:0001630	splice_region_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131860427C>T	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1329-1G>A	9.37:g.131860427C>T						RP11-247A12.1_ENST00000434250.1_RNA	p.R443_splice	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	11	1623	-			443					Q5T952|Q9BW16	Splice_Site	SNP	ENST00000318080.2	37	c.1328_splice	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405877	0.42715	.	.	ENSG00000095321	ENST00000455396	.	.	.	5.65	4.57	0.56435	.	.	.	.	.	T	0.69602	0.3129	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67681	-0.5608	4	.	.	.	.	14.572	0.68218	0.0:0.9175:0.0:0.0825	.	.	.	.	N	42	.	.	D	-	1	0	CRAT	130900248	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.428000	0.44749	2.667000	0.90743	0.561000	0.74099	GAT		0.652	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1		Silent	41	139	0	0	0	1	0	41	139				
LCP2	3937	broad.mit.edu	37	5	169675713	169675713	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:169675713T>A	ENST00000046794.5	-	21	2205	c.1590A>T	c.(1588-1590)gcA>gcT	p.A530A	C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Silent_p.A325A	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	530	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ATGGGTACCCTGCAGCATGCG	0.468																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1588-1590)gcA>gcT		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)							315.0	304.0	308.0					5																	169675713		1998	4151	6149	SO:0001819	synonymous_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169675713T>A		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1590A>T	5.37:g.169675713T>A						C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Silent_p.A325A	p.A530A	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	21	2205	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	530			SH2.		A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	c.1590A>T	CCDS47339.1																																																																																				0.468	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		75	95	0	0	0	1	0	75	95				
ANO5	203859	broad.mit.edu	37	11	22277018	22277018	+	Missense_Mutation	SNP	C	C	G	rs199932112		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:22277018C>G	ENST00000324559.8	+	13	1599	c.1282C>G	c.(1282-1284)Cca>Gca	p.P428A		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	428					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGCTGAGACCAGAATTTGA	0.433																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1282-1284)Cca>Gca		anoctamin 5							170.0	171.0	170.0					11																	22277018		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22277018C>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1282C>G	11.37:g.22277018C>G	ENSP00000315371:p.Pro428Ala						p.P428A	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			13	1599	+			428						Missense_Mutation	SNP	ENST00000324559.8	37	c.1282C>G	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479327	0.84747	.	.	ENSG00000171714	ENST00000324559	T	0.67865	-0.29	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.84036	0.0362	10	0.48119	T	0.1	.	18.1965	0.89823	0.0:1.0:0.0:0.0	.	428	Q75V66	ANO5_HUMAN	A	428	ENSP00000315371:P428A	ENSP00000315371:P428A	P	+	1	0	ANO5	22233594	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	7.610000	0.82949	2.294000	0.77228	0.563000	0.77884	CCA		0.433	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		14	130	0	0	0	1	0	14	130				
ALDH1L2	160428	broad.mit.edu	37	12	105443729	105443729	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:105443729A>G	ENST00000258494.9	-	13	1783	c.1643T>C	c.(1642-1644)gTg>gCg	p.V548A		NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	548	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAATGTTTGCACAGACATTCC	0.413																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(1642-1644)gTg>gCg		aldehyde dehydrogenase 1 family, member L2							123.0	118.0	120.0					12																	105443729		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105443729A>G	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1643T>C	12.37:g.105443729A>G	ENSP00000258494:p.Val548Ala						p.V548A	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			13	1783	-			548			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.1643T>C	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751955	0.69533	.	.	ENSG00000136010	ENST00000258494	T	0.75589	-0.95	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.051758	0.85682	D	0.000000	T	0.54806	0.1881	N	0.03000	-0.44	0.80722	D	1	B	0.13594	0.008	B	0.20955	0.032	T	0.54430	-0.8295	10	0.49607	T	0.09	.	15.964	0.79952	1.0:0.0:0.0:0.0	.	548	Q3SY69	AL1L2_HUMAN	A	548	ENSP00000258494:V548A	ENSP00000258494:V548A	V	-	2	0	ALDH1L2	103967859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.169000	0.68431	0.533000	0.62120	GTG		0.413	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		56	146	0	0	0	1	0	56	146				
ATP6V1G3	127124	broad.mit.edu	37	1	198492686	198492686	+	Silent	SNP	G	G	A	rs184819872		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:198492686G>A	ENST00000367382.1	-	3	276	c.192C>T	c.(190-192)ggC>ggT	p.G64G	ATP6V1G3_ENST00000489986.1_Silent_p.G70G|ATP6V1G3_ENST00000367381.1_Silent_p.G70G|ATP6V1G3_ENST00000281087.2_Silent_p.G64G|ATP6V1G3_ENST00000309309.7_3'UTR			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	64					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TATTCTGAGAGCCCATTATCT	0.333																																						ENST00000367381.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						c.(208-210)ggC>ggT		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3							150.0	135.0	140.0					1																	198492686		2203	4300	6503	SO:0001819	synonymous_variant	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198492686G>A	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.192C>T	1.37:g.198492686G>A						ATP6V1G3_ENST00000489986.1_Silent_p.G70G|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367382.1_Silent_p.G64G|ATP6V1G3_ENST00000281087.2_Silent_p.G64G	p.G70G			Q96LB4	VATG3_HUMAN			5	315	-			64					Q495K2|Q495K4|Q5T9L6	Silent	SNP	ENST00000367382.1	37	c.210C>T	CCDS1395.1																																																																																				0.333	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		14	91	0	0	0	1	0	14	91				
PTPRM	5797	broad.mit.edu	37	18	7906565	7906565	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:7906565G>T	ENST00000332175.8	+	4	1568	c.531G>T	c.(529-531)gtG>gtT	p.V177V	PTPRM_ENST00000400053.4_Silent_p.V115V|PTPRM_ENST00000400060.4_Silent_p.V177V|PTPRM_ENST00000580170.1_Silent_p.V177V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	177	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGGTGAAGGTGTTAGGACATC	0.348																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(529-531)gtG>gtT		protein tyrosine phosphatase, receptor type, M							180.0	181.0	181.0					18																	7906565		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7906565G>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.531G>T	18.37:g.7906565G>T						PTPRM_ENST00000580170.1_Silent_p.V177V|PTPRM_ENST00000400053.4_Silent_p.V115V|PTPRM_ENST00000400060.4_Silent_p.V177V	p.V177V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			4	1568	+		Colorectal(10;0.234)	177			MAM.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.531G>T	CCDS11840.1																																																																																				0.348	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			72	77	1	0	9.16385e-24	1	1.14879e-23	72	77				
CWC22	57703	broad.mit.edu	37	2	180810347	180810347	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:180810347C>T	ENST00000410053.3	-	20	2535	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	CWC22_ENST00000295749.6_Missense_Mutation_p.E746K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	746					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TGTCTTCTTTCTTTTTGTTTC	0.393																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(2236-2238)Gaa>Aaa		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							127.0	117.0	120.0					2																	180810347		1850	4096	5946	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810347C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2236G>A	2.37:g.180810347C>T	ENSP00000387006:p.Glu746Lys					CWC22_ENST00000295749.6_Missense_Mutation_p.E746K	p.E746K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			20	2535	-			746					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.2236G>A	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	8.075	0.771118	0.16051	.	.	ENSG00000163510	ENST00000410053;ENST00000295749	T;T	0.22539	1.95;1.95	4.75	4.75	0.60458	.	0.441264	0.25872	N	0.027756	T	0.18923	0.0454	L	0.46157	1.445	0.29966	N	0.81896	B	0.27498	0.18	B	0.25884	0.064	T	0.08827	-1.0703	10	0.12430	T	0.62	-6.2665	15.2697	0.73689	0.0:1.0:0.0:0.0	.	746	Q9HCG8	CWC22_HUMAN	K	746	ENSP00000387006:E746K;ENSP00000295749:E746K	ENSP00000295749:E746K	E	-	1	0	CWC22	180518592	1.000000	0.71417	0.984000	0.44739	0.376000	0.30014	2.803000	0.47924	2.352000	0.79861	0.655000	0.94253	GAA		0.393	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		4	91	0	0	0	1	0	4	91				
ZIC4	84107	broad.mit.edu	37	3	147113878	147113878	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:147113878G>T	ENST00000383075.3	-	3	961	c.449C>A	c.(448-450)aCc>aAc	p.T150N	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.T200N|ZIC4_ENST00000425731.3_Missense_Mutation_p.T188N|ZIC4_ENST00000473123.1_Missense_Mutation_p.T150N|ZIC4_ENST00000484399.1_Missense_Mutation_p.T150N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	150						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T150I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CTCGTGCATGGTGCTGAAAGT	0.637																																						ENST00000383075.3																			1	Substitution - Missense(1)	p.T150I(1)	endometrium(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(448-450)aCc>aAc		Zic family member 4							78.0	86.0	83.0					3																	147113878		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113878G>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.449C>A	3.37:g.147113878G>T	ENSP00000372553:p.Thr150Asn					ZIC4_ENST00000484399.1_Missense_Mutation_p.T150N|ZIC4_ENST00000473123.1_Missense_Mutation_p.T150N|ZIC4_ENST00000425731.3_Missense_Mutation_p.T188N|ZIC4_ENST00000525172.2_Missense_Mutation_p.T200N|ZIC4_ENST00000491672.1_Intron	p.T150N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	961	-			150					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.449C>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821415	0.90873	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.47455	D	0.000233	D	0.95178	0.8437	M	0.73962	2.25	0.80722	D	1	B;D	0.58970	0.073;0.984	B;D	0.73380	0.143;0.98	D	0.95597	0.8659	10	0.87932	D	0	.	18.7355	0.91753	0.0:0.0:1.0:0.0	.	200;150	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	N	150;188;200;150;150;150	ENSP00000372553:T150N;ENSP00000397695:T188N;ENSP00000435509:T200N;ENSP00000417855:T150N;ENSP00000420775:T150N;ENSP00000420627:T150N	ENSP00000372553:T150N	T	-	2	0	ZIC4	148596568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.425000	0.82216	0.511000	0.50034	ACC		0.637	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			50	110	1	0	2.24059e-37	1	2.88618e-37	50	110				
NXPE1	120400	broad.mit.edu	37	11	114393791	114393791	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:114393791T>C	ENST00000424269.1	-	4	917	c.918A>G	c.(916-918)acA>acG	p.T306T	NXPE1_ENST00000536271.1_Silent_p.T22T|NXPE1_ENST00000251921.2_Silent_p.T164T			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	306						extracellular region (GO:0005576)											CAACTTGGCATGTCTCTTCTA	0.373																																						ENST00000536271.1																			0											c.(64-66)acA>acG		neurexophilin and PC-esterase domain family, member 1							88.0	82.0	84.0					11																	114393791		2201	4296	6497	SO:0001819	synonymous_variant	120400							g.chr11:114393791T>C	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.918A>G	11.37:g.114393791T>C						NXPE1_ENST00000251921.2_Silent_p.T164T|NXPE1_ENST00000424269.1_Silent_p.T306T	p.T22T							3	1309	-								B0YJ13	Silent	SNP	ENST00000424269.1	37	c.66A>G																																																																																					0.373	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		18	94	0	0	0	1	0	18	94				
ZIC1	7545	broad.mit.edu	37	3	147128281	147128281	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:147128281T>A	ENST00000282928.4	+	1	1111	c.382T>A	c.(382-384)Ttc>Atc	p.F128I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	128					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCCGGGGGCTTCGGGGGCCC	0.711																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(382-384)Ttc>Atc		Zic family member 1							11.0	14.0	13.0					3																	147128281		2126	4223	6349	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128281T>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.382T>A	3.37:g.147128281T>A	ENSP00000282928:p.Phe128Ile						p.F128I	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1111	+			128					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.382T>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435737	0.62955	.	.	ENSG00000152977	ENST00000282928	T	0.38240	1.15	3.34	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	L	0.54323	1.7	0.58432	D	0.999999	D	0.55800	0.973	P	0.57776	0.827	T	0.50320	-0.8842	10	0.59425	D	0.04	.	12.1724	0.54165	0.0:0.0:0.0:1.0	.	128	Q15915	ZIC1_HUMAN	I	128	ENSP00000282928:F128I	ENSP00000282928:F128I	F	+	1	0	ZIC1	148610971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.255000	0.78338	1.530000	0.49136	0.443000	0.29094	TTC		0.711	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		5	35	0	0	0	1	0	5	35				
CCR6	1235	broad.mit.edu	37	6	167550377	167550377	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:167550377T>A	ENST00000341935.5	+	3	1211	c.659T>A	c.(658-660)cTc>cAc	p.L220H	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.L220H|CCR6_ENST00000349984.4_Missense_Mutation_p.L220H	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	220					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTTGAGCTACTCTTTGGTTTC	0.448																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(658-660)cTc>cAc		chemokine (C-C motif) receptor 6							138.0	117.0	124.0					6																	167550377		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550377T>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.659T>A	6.37:g.167550377T>A	ENSP00000343952:p.Leu220His					CCR6_ENST00000349984.4_Missense_Mutation_p.L220H|CCR6_ENST00000400926.2_Missense_Mutation_p.L220H	p.L220H	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1211	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	220					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.659T>A	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	T	9.422	1.083396	0.20309	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.74737	-0.87;-0.87;-0.87	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.999489	0.08094	U	0.998813	T	0.78457	0.4286	M	0.83384	2.64	0.09310	N	1	D	0.62365	0.991	P	0.61275	0.886	T	0.68236	-0.5462	10	0.87932	D	0	.	5.9218	0.19086	0.0:0.0852:0.302:0.6127	.	220	P51684	CCR6_HUMAN	H	220	ENSP00000383715:L220H;ENSP00000343952:L220H;ENSP00000339393:L220H	ENSP00000343952:L220H	L	+	2	0	CCR6	167470367	0.000000	0.05858	0.012000	0.15200	0.021000	0.10359	0.054000	0.14205	1.900000	0.55004	0.533000	0.62120	CTC		0.448	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			59	97	0	0	0	1	0	59	97				
DENND1A	57706	broad.mit.edu	37	9	126214562	126214562	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:126214562T>A	ENST00000373624.2	-	17	1493	c.1292A>T	c.(1291-1293)tAc>tTc	p.Y431F	DENND1A_ENST00000394219.3_Missense_Mutation_p.Y399F|DENND1A_ENST00000394215.2_Missense_Mutation_p.Y401F|DENND1A_ENST00000373618.1_Missense_Mutation_p.Y399F|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Missense_Mutation_p.Y431F|DENND1A_ENST00000542603.1_Missense_Mutation_p.Y173F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	431					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TACGAACTTGTAGACAGTCTT	0.383																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1291-1293)tAc>tTc		DENN/MADD domain containing 1A							173.0	146.0	155.0					9																	126214562		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126214562T>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1292A>T	9.37:g.126214562T>A	ENSP00000362727:p.Tyr431Phe					DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.Y399F|DENND1A_ENST00000394215.2_Missense_Mutation_p.Y401F|DENND1A_ENST00000542603.1_Missense_Mutation_p.Y173F|DENND1A_ENST00000373618.1_Missense_Mutation_p.Y399F|DENND1A_ENST00000373620.3_Missense_Mutation_p.Y431F	p.Y431F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			17	1493	-			431					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1292A>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863693	0.91511	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.25749	3.22;1.78;3.15;3.27;3.1;3.14	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	M	0.76574	2.34	0.58432	D	0.999999	D;P;P;B;D;P;D	0.76494	0.988;0.729;0.819;0.331;0.998;0.781;0.999	D;P;P;B;D;P;D	0.80764	0.941;0.537;0.464;0.204;0.948;0.453;0.994	T	0.54423	-0.8296	10	0.56958	D	0.05	-11.1916	15.8384	0.78818	0.0:0.0:0.0:1.0	.	399;389;399;401;431;431;251	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;.;DEN1A_HUMAN;.	F	431;173;399;431;401;399	ENSP00000362727:Y431F;ENSP00000437457:Y173F;ENSP00000377766:Y399F;ENSP00000362722:Y431F;ENSP00000377763:Y401F;ENSP00000362720:Y399F	ENSP00000362720:Y399F	Y	-	2	0	DENND1A	125254383	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.482000	0.81143	2.137000	0.66172	0.459000	0.35465	TAC		0.383	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		30	78	0	0	0	1	0	30	78				
CD244	51744	broad.mit.edu	37	1	160811221	160811221	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:160811221C>A	ENST00000368033.3	-	3	531	c.449G>T	c.(448-450)aGa>aTa	p.R150I	CD244_ENST00000322302.7_Intron|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Missense_Mutation_p.R145I|CD244_ENST00000368032.2_Missense_Mutation_p.R145I			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	150	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACTTGGCATCTCCCTCTGTC	0.522																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(433-435)aGa>aTa		CD244 molecule, natural killer cell receptor 2B4							119.0	110.0	113.0					1																	160811221		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811221C>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.449G>T	1.37:g.160811221C>A	ENSP00000357012:p.Arg150Ile					CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Missense_Mutation_p.R145I|CD244_ENST00000368033.3_Missense_Mutation_p.R150I	p.R145I	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	611	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		150			Ig-like 2.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.434G>T	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	3.066	-0.192080	0.06299	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	T;T;T	0.12569	2.67;2.67;2.67	4.73	-9.47	0.00594	Immunoglobulin-like (1);	2.101280	0.01965	N	0.043634	T	0.00875	0.0029	N	0.02539	-0.55	0.09310	N	1	B;B	0.13145	0.007;0.006	B;B	0.12837	0.008;0.005	T	0.21484	-1.0244	10	0.31617	T	0.26	0.0484	2.3031	0.04167	0.1103:0.4057:0.2027:0.2813	.	150;145	Q9BZW8;Q9BZW8-2	CD244_HUMAN;.	I	145;150;145	ENSP00000357013:R145I;ENSP00000357012:R150I;ENSP00000357011:R145I	ENSP00000357011:R145I	R	-	2	0	CD244	159077845	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	-2.621000	0.00878	-4.440000	0.00049	0.655000	0.94253	AGA		0.522	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		40	133	1	0	4.14481e-20	1	5.08073e-20	40	133				
MAP9	79884	broad.mit.edu	37	4	156277005	156277005	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:156277005T>C	ENST00000311277.4	-	9	1416	c.1153A>G	c.(1153-1155)Agt>Ggt	p.S385G	MAP9_ENST00000515654.1_Missense_Mutation_p.S361G|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000598890.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	385					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTTTTAGAACTAGATTTCTTC	0.348																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1153-1155)Agt>Ggt		microtubule-associated protein 9							57.0	57.0	57.0					4																	156277005		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156277005T>C	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1153A>G	4.37:g.156277005T>C	ENSP00000310593:p.Ser385Gly					MAP9_ENST00000515654.1_Missense_Mutation_p.S361G|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000593387.1_RNA	p.S385G	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	9	1416	-	all_hematologic(180;0.24)	Renal(120;0.0458)	385					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.1153A>G	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	T	6.333	0.429572	0.11987	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.32272	2.22;3.12;1.46	5.28	-3.34	0.04943	.	0.505809	0.20035	N	0.100631	T	0.13586	0.0329	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.003	T	0.33059	-0.9883	10	0.11182	T	0.66	-0.6905	7.4189	0.27061	0.0:0.4846:0.1849:0.3305	.	360;385;385	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	G	385;361;384	ENSP00000310593:S385G;ENSP00000427402:S361G;ENSP00000394048:S384G	ENSP00000310593:S385G	S	-	1	0	MAP9	156496455	0.070000	0.21116	0.024000	0.17045	0.667000	0.39255	-0.343000	0.07791	-0.198000	0.10333	0.472000	0.43445	AGT		0.348	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		17	51	0	0	0	1	0	17	51				
PPP1R9A	55607	broad.mit.edu	37	7	94540144	94540144	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:94540144C>A	ENST00000433881.1	+	2	1251	c.719C>A	c.(718-720)tCt>tAt	p.S240Y	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S240Y			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	240					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AATTTACCATCTGTTACTGTT	0.423										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(718-720)tCt>tAt		protein phosphatase 1, regulatory subunit 9A							82.0	74.0	77.0					7																	94540144		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540144C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.719C>A	7.37:g.94540144C>A	ENSP00000398870:p.Ser240Tyr	HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S240Y	p.S240Y	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	935	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		240					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.719C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293326	0.23564	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.25	5.25	0.73442	.	0.267246	0.32134	N	0.006533	D	0.95736	0.8613	M	0.74258	2.255	0.09310	N	0.999999	P;P;D;P;B	0.56968	0.612;0.95;0.978;0.612;0.38	B;P;P;B;B	0.56700	0.241;0.701;0.804;0.347;0.191	D	0.90449	0.4437	9	.	.	.	.	19.7276	0.96170	0.0:1.0:0.0:0.0	.	240;240;240;240;240	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Y	240	ENSP00000405514:S240Y;ENSP00000344524:S240Y;ENSP00000411342:S240Y;ENSP00000398870:S240Y;ENSP00000289495:S240Y;ENSP00000402893:S240Y	.	S	+	2	0	PPP1R9A	94378080	1.000000	0.71417	0.449000	0.26957	0.067000	0.16453	5.868000	0.69605	2.833000	0.97629	0.585000	0.79938	TCT		0.423	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		11	47	1	0	0.000978159	1	0.001008	11	47				
PIK3CG	5294	broad.mit.edu	37	7	106508853	106508853	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:106508853G>T	ENST00000359195.3	+	2	1157	c.847G>T	c.(847-849)Ggc>Tgc	p.G283C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.G283C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.G283C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	283	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTACCTGGTGGGCGAAACGCC	0.547																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(847-849)Ggc>Tgc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							45.0	44.0	44.0					7																	106508853		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508853G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.847G>T	7.37:g.106508853G>T	ENSP00000352121:p.Gly283Cys					PIK3CG_ENST00000440650.2_Missense_Mutation_p.G283C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.G283C	p.G283C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1157	+			283					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.847G>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.111019	0.56398	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.75477	-0.94;-0.94;-0.94	5.99	5.1	0.69264	Phosphoinositide 3-kinase, ras-binding (2);	0.000000	0.85682	D	0.000000	D	0.86653	0.5984	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88626	0.3166	10	0.87932	D	0	-20.1257	17.2547	0.87052	0.0:0.1257:0.8743:0.0	.	283	P48736	PK3CG_HUMAN	C	283	ENSP00000392258:G283C;ENSP00000419260:G283C;ENSP00000352121:G283C	ENSP00000352121:G283C	G	+	1	0	PIK3CG	106296089	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	9.807000	0.99171	1.522000	0.49001	-0.175000	0.13238	GGC		0.547	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			22	35	1	0	5.26018e-13	1	6.02295e-13	22	35				
SLC40A1	30061	broad.mit.edu	37	2	190430181	190430181	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:190430181T>C	ENST00000261024.2	-	6	1085	c.659A>G	c.(658-660)tAc>tGc	p.Y220C		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	220					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAGCAGAACGTACTCCACGCA	0.468																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(658-660)tAc>tGc		solute carrier family 40 (iron-regulated transporter), member 1							91.0	88.0	89.0					2																	190430181		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190430181T>C	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.659A>G	2.37:g.190430181T>C	ENSP00000261024:p.Tyr220Cys						p.Y220C	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		6	1085	-			220					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.659A>G	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932235	0.92389	.	.	ENSG00000138449	ENST00000261024	D	0.94613	-3.47	6.02	6.02	0.97574	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97514	1.0068	10	0.54805	T	0.06	-16.4636	16.5446	0.84426	0.0:0.0:0.0:1.0	.	220	Q9NP59	S40A1_HUMAN	C	220	ENSP00000261024:Y220C	ENSP00000261024:Y220C	Y	-	2	0	SLC40A1	190138426	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.194000	0.72082	2.311000	0.77944	0.533000	0.62120	TAC		0.468	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			30	67	0	0	0	1	0	30	67				
IRS2	8660	broad.mit.edu	37	13	110434604	110434604	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:110434604G>A	ENST00000375856.3	-	1	4311	c.3797C>T	c.(3796-3798)cCc>cTc	p.P1266L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1266	Poly-Pro.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ctgcggctggggtggcagcCC	0.701																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3796-3798)cCc>cTc		insulin receptor substrate 2							7.0	9.0	8.0					13																	110434604		1919	3898	5817	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434604G>A	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3797C>T	13.37:g.110434604G>A	ENSP00000365016:p.Pro1266Leu						p.P1266L	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4311	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1266			Poly-Pro.		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.3797C>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	G	0.768	-0.766650	0.02974	.	.	ENSG00000185950	ENST00000375856	T	0.54479	0.57	3.31	0.0369	0.14194	.	10.757300	0.00424	U	0.000077	T	0.37156	0.0993	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09015	-1.0694	10	0.29301	T	0.29	-3.8991	2.5252	0.04689	0.1265:0.1846:0.5014:0.1875	.	1266	Q9Y4H2	IRS2_HUMAN	L	1266	ENSP00000365016:P1266L	ENSP00000365016:P1266L	P	-	2	0	IRS2	109232605	0.003000	0.15002	0.000000	0.03702	0.051000	0.14879	1.196000	0.32198	0.116000	0.18110	0.462000	0.41574	CCC		0.701	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		10	31	0	0	0	1	0	10	31				
CNTN3	5067	broad.mit.edu	37	3	74535779	74535779	+	Nonsense_Mutation	SNP	C	C	T	rs376191646		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:74535779C>T	ENST00000263665.6	-	3	213	c.186G>A	c.(184-186)tgG>tgA	p.W62*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	62	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATTCAGCTGCCATCTGTAAA	0.343																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(184-186)tgG>tgA		contactin 3 (plasmacytoma associated)							90.0	88.0	89.0					3																	74535779		2203	4300	6503	SO:0001587	stop_gained	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74535779C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.186G>A	3.37:g.74535779C>T	ENSP00000263665:p.Trp62*						p.W62*	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	3	213	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	62			Ig-like C2-type 1.		B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	37	c.186G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	37	6.231966	0.97399	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6078	0.88044	0.0:1.0:0.0:0.0	.	.	.	.	X	62	.	ENSP00000263665:W62X	W	-	3	0	CNTN3	74618469	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.110000	0.64622	2.763000	0.94921	0.585000	0.79938	TGG		0.343	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		25	63	0	0	0	1	0	25	63				
HK1	3098	broad.mit.edu	37	10	71103586	71103586	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:71103586G>A	ENST00000359426.6	+	2	171	c.67G>A	c.(67-69)Gac>Aac	p.D23N	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Missense_Mutation_p.D58N|HK1_ENST00000298649.3_Missense_Mutation_p.D22N|HK1_ENST00000360289.2_Missense_Mutation_p.D11N|HK1_ENST00000404387.2_Missense_Mutation_p.D27N	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	23	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCTCCAGATTGACAAGTATCT	0.542																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(172-174)Gac>Aac		hexokinase 1							165.0	158.0	161.0					10																	71103586		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71103586G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.67G>A	10.37:g.71103586G>A	ENSP00000352398:p.Asp23Asn					HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.D27N|HK1_ENST00000360289.2_Missense_Mutation_p.D11N|HK1_ENST00000359426.6_Missense_Mutation_p.D23N|HK1_ENST00000298649.3_Missense_Mutation_p.D22N	p.D58N			P19367	HXK1_HUMAN			7	561	+			23			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.172G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593934	0.96602	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.31	5.31	0.75309	Hexokinase, N-terminal (1);	0.089576	0.85682	D	0.000000	T	0.73179	0.3554	M	0.70903	2.155	0.80722	D	1	D;D;D;P;D	0.89917	0.996;1.0;0.986;0.882;0.987	D;D;D;P;P	0.91635	0.961;0.999;0.944;0.81;0.83	T	0.75654	-0.3243	10	0.66056	D	0.02	-4.2581	18.9772	0.92742	0.0:0.0:1.0:0.0	.	23;22;58;27;11	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	N	27;11;58;11;27;22;22;23;23	ENSP00000409761:D27N;ENSP00000353433:D11N;ENSP00000402103:D58N;ENSP00000398316:D11N;ENSP00000384774:D27N;ENSP00000415949:D22N;ENSP00000298649:D22N;ENSP00000352398:D23N	ENSP00000298649:D22N	D	+	1	0	HK1	70773592	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.439000	0.97543	2.485000	0.83878	0.655000	0.94253	GAC		0.542	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		46	202	0	0	0	1	0	46	202				
DBH	1621	broad.mit.edu	37	9	136501617	136501617	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:136501617C>A	ENST00000393056.2	+	1	136	c.124C>A	c.(124-126)Ccc>Acc	p.P42T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	42					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GGGCTCGGCTCCCCGTGAGAG	0.652																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(124-126)Ccc>Acc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						37.0	36.0	36.0					9																	136501617		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501617C>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.124C>A	9.37:g.136501617C>A	ENSP00000376776:p.Pro42Thr						p.P42T	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	136	+			42					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.124C>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463942	0.43736	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.46819	0.86;0.93	5.59	4.68	0.58851	.	0.366177	0.32473	N	0.006054	T	0.61578	0.2358	M	0.73598	2.24	0.45318	D	0.998314	D	0.65815	0.995	P	0.56398	0.797	T	0.61153	-0.7120	10	0.22109	T	0.4	-12.5412	15.7084	0.77606	0.1381:0.8619:0.0:0.0	.	42	P09172	DOPO_HUMAN	T	42;28;28	ENSP00000376776:P42T;ENSP00000263611:P28T	ENSP00000263611:P28T	P	+	1	0	DBH	135491438	0.994000	0.37717	0.677000	0.29947	0.061000	0.15899	5.632000	0.67819	1.335000	0.45486	0.561000	0.74099	CCC		0.652	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		19	32	1	0	2.4624e-09	1	2.69754e-09	19	32				
USH2A	7399	broad.mit.edu	37	1	216420234	216420234	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:216420234G>C	ENST00000307340.3	-	13	2888	c.2502C>G	c.(2500-2502)ttC>ttG	p.F834L	USH2A_ENST00000366942.3_Missense_Mutation_p.F834L|USH2A_ENST00000366943.2_Missense_Mutation_p.F834L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	834	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCGTAGGTAGAAGTTTCCCT	0.453										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2500-2502)ttC>ttG		Usher syndrome 2A (autosomal recessive, mild)							160.0	154.0	156.0					1																	216420234		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420234G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2502C>G	1.37:g.216420234G>C	ENSP00000305941:p.Phe834Leu	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.F834L|USH2A_ENST00000366942.3_Missense_Mutation_p.F834L	p.F834L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2888	-			834			Laminin EGF-like 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2502C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	6.914	0.538251	0.13188	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61980	0.06;0.06;0.06	5.91	-0.207	0.13189	EGF-like, laminin (3);	0.559095	0.14859	N	0.294192	T	0.64516	0.2605	M	0.89353	3.025	0.09310	N	1	B;P	0.34462	0.38;0.454	B;B	0.35550	0.205;0.192	T	0.57312	-0.7833	10	0.38643	T	0.18	.	10.2158	0.43168	0.3789:0.0:0.6211:0.0	.	834;834	O75445-2;O75445	.;USH2A_HUMAN	L	834	ENSP00000305941:F834L;ENSP00000355910:F834L;ENSP00000355909:F834L	ENSP00000305941:F834L	F	-	3	2	USH2A	214486857	0.858000	0.29795	0.000000	0.03702	0.006000	0.05464	1.202000	0.32271	-0.070000	0.12908	-0.793000	0.03317	TTC		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	199	0	0	0	1	0	12	199				
PLCL1	5334	broad.mit.edu	37	2	198950684	198950684	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:198950684C>A	ENST00000428675.1	+	2	2841	c.2443C>A	c.(2443-2445)Cca>Aca	p.P815T	PLCL1_ENST00000437704.2_Missense_Mutation_p.P717T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	815					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATATACGATACCATTTGAATG	0.438																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2443-2445)Cca>Aca		phospholipase C-like 1	Quinacrine(DB01103)						209.0	189.0	196.0					2																	198950684		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950684C>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2443C>A	2.37:g.198950684C>A	ENSP00000402861:p.Pro815Thr					PLCL1_ENST00000437704.2_Missense_Mutation_p.P717T	p.P815T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2841	+			815					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2443C>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453841	0.63290	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.17691	2.26;2.26	5.5	5.5	0.81552	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.089947	0.49305	D	0.000148	T	0.46034	0.1372	M	0.82056	2.57	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69307	0.963;0.963	T	0.33059	-0.9883	9	.	.	.	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	815;741	Q15111;B4DYZ4	PLCL1_HUMAN;.	T	815;717	ENSP00000402861:P815T;ENSP00000414138:P717T	.	P	+	1	0	PLCL1	198658929	1.000000	0.71417	0.867000	0.34043	0.944000	0.59088	7.641000	0.83368	2.861000	0.98227	0.655000	0.94253	CCA		0.438	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		33	103	1	0	1.61788e-16	1	1.89898e-16	33	103				
PICK1	9463	broad.mit.edu	37	22	38468504	38468504	+	Missense_Mutation	SNP	G	G	A	rs201758961		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:38468504G>A	ENST00000404072.3	+	9	924	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.V193M	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	193	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CGTGTTCTCCGTGATCGGGGT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17324	0.001		0.0	False		,,,				2504	0.0					ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(577-579)Gtg>Atg		protein interacting with PRKCA 1							45.0	48.0	47.0					22																	38468504		2203	4300	6503	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38468504G>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.577G>A	22.37:g.38468504G>A	ENSP00000385205:p.Val193Met					PICK1_ENST00000356976.3_Missense_Mutation_p.V193M|RP5-1039K5.13_ENST00000445483.1_RNA	p.V193M	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			9	924	+	Melanoma(58;0.045)		193			AH.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.577G>A	CCDS13965.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	29.5	5.008829	0.93346	.	.	ENSG00000100151	ENST00000404072;ENST00000424694;ENST00000356976	T;T;T	0.76968	-1.06;-1.06;-1.06	4.46	4.46	0.54185	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	L	0.51422	1.61	0.80722	D	1	D	0.61080	0.989	P	0.54499	0.754	T	0.83058	-0.0149	10	0.51188	T	0.08	-28.5382	17.9865	0.89157	0.0:0.0:1.0:0.0	.	193	Q9NRD5	PICK1_HUMAN	M	193	ENSP00000385205:V193M;ENSP00000398141:V193M;ENSP00000349465:V193M	ENSP00000349465:V193M	V	+	1	0	PICK1	36798450	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.695000	0.84257	2.411000	0.81874	0.655000	0.94253	GTG		0.607	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		8	72	0	0	0	1	0	8	72				
KRT33B	3884	broad.mit.edu	37	17	39522752	39522752	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39522752C>T	ENST00000251646.3	-	3	607	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	186	Coil 1B.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGGACAGCAGCTCCTCCTTCA	0.562																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(556-558)gaG>gaA		keratin 33B							72.0	70.0	71.0					17																	39522752		2191	4300	6491	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39522752C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.558G>A	17.37:g.39522752C>T							p.E186E	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			3	607	-		Breast(137;0.000496)	186			Coil 1B.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.558G>A	CCDS11389.1																																																																																				0.562	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		7	73	0	0	0	1	0	7	73				
LOC653786	653786	broad.mit.edu	37	16	22558366	22558366	+	RNA	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:22558366A>G	ENST00000550753.1	+	0	1348					NR_003676.2																						ATTAAGCTCTATAGCCACAAA	0.438																																						ENST00000550753.1																			0																																																			653786							g.chr16:22558366A>G																													16.37:g.22558366A>G								NR_003676.2						0	1348	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.438	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			15	50	0	0	0	1	0	15	50				
GRM1	2911	broad.mit.edu	37	6	146720184	146720184	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:146720184T>A	ENST00000282753.1	+	7	2244	c.2009T>A	c.(2008-2010)aTg>aAg	p.M670K	GRM1_ENST00000355289.4_Missense_Mutation_p.M670K|GRM1_ENST00000392299.2_Missense_Mutation_p.M670K|GRM1_ENST00000507907.1_Missense_Mutation_p.M670K|GRM1_ENST00000492807.2_Missense_Mutation_p.M670K|GRM1_ENST00000361719.2_Missense_Mutation_p.M670K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	670					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCCTCTGCGATGTGCTACTCT	0.532																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2008-2010)aTg>aAg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						308.0	287.0	294.0					6																	146720184		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720184T>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2009T>A	6.37:g.146720184T>A	ENSP00000282753:p.Met670Lys					GRM1_ENST00000492807.2_Missense_Mutation_p.M670K|GRM1_ENST00000361719.2_Missense_Mutation_p.M670K|GRM1_ENST00000355289.4_Missense_Mutation_p.M670K|GRM1_ENST00000282753.1_Missense_Mutation_p.M670K|GRM1_ENST00000507907.1_Missense_Mutation_p.M670K	p.M670K			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2479	+		Ovarian(120;0.0387)	670					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2009T>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091146	0.76756	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.034204	0.85682	D	0.000000	D	0.91185	0.7223	M	0.78049	2.395	0.80722	D	1	D;P;D	0.60160	0.973;0.912;0.987	P;P;P	0.61275	0.786;0.741;0.886	D	0.92572	0.6067	10	0.87932	D	0	.	15.6147	0.76756	0.0:0.0:0.0:1.0	.	670;670;670	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	K	670	ENSP00000354896:M670K;ENSP00000376119:M670K;ENSP00000424095:M670K;ENSP00000282753:M670K;ENSP00000347437:M670K;ENSP00000425599:M670K	ENSP00000282753:M670K	M	+	2	0	GRM1	146761877	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.104000	0.64026	0.477000	0.44152	ATG		0.532	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		63	199	0	0	0	1	0	63	199				
FAM135B	51059	broad.mit.edu	37	8	139165436	139165436	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:139165436T>A	ENST00000395297.1	-	13	1452	c.1282A>T	c.(1282-1284)Aat>Tat	p.N428Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	428										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACATCAAAATTAGGATAAACA	0.299										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1282-1284)Aat>Tat		family with sequence similarity 135, member B							40.0	38.0	39.0					8																	139165436		1822	4076	5898	SO:0001583	missense	51059							g.chr8:139165436T>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1282A>T	8.37:g.139165436T>A	ENSP00000378710:p.Asn428Tyr	HNSCC(54;0.14)					p.N428Y	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1452	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		428					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1282A>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689579	0.48097	.	.	ENSG00000147724	ENST00000395297	T	0.17213	2.29	5.48	1.77	0.24775	.	0.780771	0.12047	N	0.504479	T	0.18087	0.0434	L	0.57536	1.79	0.22435	N	0.999102	P	0.47350	0.894	B	0.41723	0.365	T	0.10917	-1.0609	10	0.72032	D	0.01	-2.1381	7.7956	0.29146	0.0:0.3504:0.0:0.6496	.	428	Q49AJ0	F135B_HUMAN	Y	428	ENSP00000378710:N428Y	ENSP00000276737:N428Y	N	-	1	0	FAM135B	139234618	0.580000	0.26733	0.947000	0.38551	0.614000	0.37383	0.746000	0.26275	0.070000	0.16634	-0.250000	0.11733	AAT		0.299	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		25	77	0	0	0	1	0	25	77				
DPP9	91039	broad.mit.edu	37	19	4689615	4689615	+	Silent	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:4689615C>G	ENST00000598800.1	-	16	2134	c.1629G>C	c.(1627-1629)acG>acC	p.T543T	DPP9_ENST00000594671.1_Silent_p.T543T|DPP9_ENST00000262960.9_Silent_p.T572T			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	543						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGAAGCCGGGCGTGGTGAGGC	0.667																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1714-1716)acG>acC		dipeptidyl-peptidase 9							36.0	46.0	42.0					19																	4689615		2103	4196	6299	SO:0001819	synonymous_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4689615C>G	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1629G>C	19.37:g.4689615C>G						DPP9_ENST00000598800.1_Silent_p.T543T|DPP9_ENST00000594671.1_Silent_p.T543T	p.T572T	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	15	1993	-		Hepatocellular(1079;0.137)	543					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37	c.1716G>C																																																																																					0.667	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			8	10	0	0	0	1	0	8	10				
TLE1	7088	broad.mit.edu	37	9	84208113	84208113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:84208113C>A	ENST00000376499.3	-	15	2472	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	470					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGGGGGATTCCGGGTCCGATG	0.592																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1408-1410)Gga>Tga		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							102.0	98.0	99.0					9																	84208113		2203	4300	6503	SO:0001587	stop_gained	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84208113C>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1408G>T	9.37:g.84208113C>A	ENSP00000365682:p.Gly470*						p.G470*	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			15	2472	-			470					A8K495|Q5T3G4|Q969V9	Nonsense_Mutation	SNP	ENST00000376499.3	37	c.1408G>T	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	49	15.038241	0.99820	.	.	ENSG00000196781	ENST00000376499	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4443	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	470	.	ENSP00000365682:G470X	G	-	1	0	TLE1	83397933	1.000000	0.71417	0.964000	0.40570	0.971000	0.66376	6.079000	0.71291	2.832000	0.97577	0.655000	0.94253	GGA		0.592	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		52	107	1	0	1.42923e-14	1	1.65834e-14	52	107				
MDGA2	161357	broad.mit.edu	37	14	47504486	47504486	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:47504486G>A	ENST00000399232.2	-	8	1704	c.1340C>T	c.(1339-1341)cCa>cTa	p.P447L	MDGA2_ENST00000426342.1_Missense_Mutation_p.P218L|MDGA2_ENST00000439988.3_Missense_Mutation_p.P516L|MDGA2_ENST00000357362.3_Missense_Mutation_p.P218L	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	447	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTTTCCTGTGGAACAGTCAG	0.378																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(652-654)cCa>cTa		MAM domain containing glycosylphosphatidylinositol anchor 2							144.0	119.0	127.0					14																	47504486		1848	4096	5944	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504486G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1340C>T	14.37:g.47504486G>A	ENSP00000382178:p.Pro447Leu					MDGA2_ENST00000357362.3_Missense_Mutation_p.P218L|MDGA2_ENST00000439988.2_Missense_Mutation_p.P447L|MDGA2_ENST00000399232.2_Missense_Mutation_p.P516L	p.P218L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			8	1399	-			447			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.653C>T		.	.	.	.	.	.	.	.	.	.	G	25.4	4.637537	0.87760	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	U	0.000092	T	0.74520	0.3727	L	0.42008	1.315	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75761	-0.3204	10	0.72032	D	0.01	.	18.3087	0.90192	0.0:0.0:1.0:0.0	.	447	Q7Z553	MDGA2_HUMAN	L	447;218;516;218	ENSP00000400011:P447L;ENSP00000405456:P218L;ENSP00000382178:P516L;ENSP00000349925:P218L	ENSP00000349925:P218L	P	-	2	0	MDGA2	46574236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.677000	0.91161	0.591000	0.81541	CCA		0.378	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		48	82	0	0	0	1	0	48	82				
VCAM1	7412	broad.mit.edu	37	1	101198034	101198034	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:101198034C>T	ENST00000294728.2	+	7	1687	c.1586C>T	c.(1585-1587)tCt>tTt	p.S529F	VCAM1_ENST00000370119.4_Missense_Mutation_p.S467F|VCAM1_ENST00000370115.1_Missense_Mutation_p.S330F|VCAM1_ENST00000347652.2_Missense_Mutation_p.S437F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	529	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAAGGCAGTTCTGTGAATATG	0.527																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1585-1587)tCt>tTt		vascular cell adhesion molecule 1	Carvedilol(DB01136)						67.0	69.0	68.0					1																	101198034		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198034C>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1586C>T	1.37:g.101198034C>T	ENSP00000294728:p.Ser529Phe					VCAM1_ENST00000347652.2_Missense_Mutation_p.S437F|VCAM1_ENST00000370115.1_Missense_Mutation_p.S330F|VCAM1_ENST00000370119.4_Missense_Mutation_p.S467F	p.S529F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1687	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	529			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1586C>T	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694341	0.30052	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.57	2.28	0.28536	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.948939	0.08940	N	0.871777	T	0.08846	0.0219	M	0.81942	2.565	0.38083	D	0.936724	B;B;B	0.20887	0.011;0.049;0.013	B;B;B	0.26693	0.038;0.072;0.033	T	0.10520	-1.0626	10	0.54805	T	0.06	-2.6944	4.8686	0.13620	0.146:0.5872:0.0:0.2668	.	467;437;529	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	F	467;437;529;330	ENSP00000359137:S467F;ENSP00000304611:S437F;ENSP00000294728:S529F;ENSP00000359133:S330F	ENSP00000294728:S529F	S	+	2	0	VCAM1	100970622	0.858000	0.29795	0.962000	0.40283	0.862000	0.49288	1.374000	0.34283	0.717000	0.32145	-0.150000	0.13652	TCT		0.527	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		15	89	0	0	0	1	0	15	89				
FMO3	2328	broad.mit.edu	37	1	171086520	171086520	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:171086520C>A	ENST00000367755.4	+	9	1648	c.1537C>A	c.(1537-1539)Cat>Aat	p.H513N	FMO3_ENST00000542847.1_Missense_Mutation_p.H493N|FMO3_ENST00000538429.1_Missense_Mutation_p.H450N|FMO3_ENST00000392085.2_Missense_Mutation_p.H513N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	513					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CTTCTTTTTCCATTGGCTGAA	0.458																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1537-1539)Cat>Aat		flavin containing monooxygenase 3							165.0	153.0	157.0					1																	171086520		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086520C>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1537C>A	1.37:g.171086520C>A	ENSP00000356729:p.His513Asn					FMO3_ENST00000542847.1_Missense_Mutation_p.H493N|FMO3_ENST00000392085.2_Missense_Mutation_p.H513N|FMO3_ENST00000538429.1_Missense_Mutation_p.H450N	p.H513N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1648	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		513					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1537C>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	5.448	0.267841	0.10349	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.51325	0.71;0.71;0.75;1.02	4.55	0.0114	0.14087	.	1.803950	0.02406	N	0.081136	T	0.12646	0.0307	N	0.11870	0.19	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.13656	-1.0501	10	0.27082	T	0.32	1.6067	10.2658	0.43453	0.3567:0.5236:0.1197:0.0	.	450;493;513	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	N	513;513;493;450	ENSP00000356729:H513N;ENSP00000375935:H513N;ENSP00000444073:H493N;ENSP00000439500:H450N	ENSP00000356729:H513N	H	+	1	0	FMO3	169353144	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.754000	0.04787	0.123000	0.18342	-0.169000	0.13324	CAT		0.458	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		16	110	1	0	1.99824e-07	1	2.16179e-07	16	110				
ASTN2	23245	broad.mit.edu	37	9	119202989	119202989	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:119202989C>A	ENST00000313400.4	-	22	3781	c.3681G>T	c.(3679-3681)gaG>gaT	p.E1227D	ASTN2_ENST00000288520.5_Missense_Mutation_p.E328D|ASTN2_ENST00000341734.4_Missense_Mutation_p.E279D|ASTN2_ENST00000361209.2_Missense_Mutation_p.E1176D|ASTN2_ENST00000361477.3_Missense_Mutation_p.E279D|ASTN2_ENST00000373996.3_Missense_Mutation_p.E1223D			O75129	ASTN2_HUMAN	astrotactin 2	1227					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGCTGAGACCTCCATCAGTG	0.512																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3679-3681)gaG>gaT		astrotactin 2							202.0	159.0	173.0					9																	119202989		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119202989C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3681G>T	9.37:g.119202989C>A	ENSP00000314038:p.Glu1227Asp					ASTN2_ENST00000288520.5_Missense_Mutation_p.E328D|ASTN2_ENST00000361209.2_Missense_Mutation_p.E1176D|ASTN2_ENST00000373996.3_Missense_Mutation_p.E1223D|ASTN2_ENST00000341734.4_Missense_Mutation_p.E279D|ASTN2_ENST00000361477.3_Missense_Mutation_p.E279D	p.E1227D			O75129	ASTN2_HUMAN			22	3781	-			1227					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3681G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.266|7.266	0.606217|0.606217	0.14002|0.14002	.|.	.|.	ENSG00000148219|ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477|ENST00000417725	T;T;T;T;T;T;T|.	0.14640|.	2.89;2.89;2.49;2.51;2.72;2.92;2.51|.	5.91|5.91	-5.59|-5.59	0.02505|0.02505	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35885|0.35885	0.0947|0.0947	N|N	0.05124|0.05124	-0.11|-0.11	0.44966|0.44966	D|D	0.99798|0.99798	D;D;B;D;B;D;D|.	0.64830|.	0.99;0.99;0.181;0.994;0.029;0.99;0.99|.	D;D;B;D;B;D;D|.	0.73380|.	0.971;0.98;0.122;0.97;0.033;0.98;0.98|.	T|T	0.14200|0.14200	-1.0481|-1.0481	10|5	0.07644|.	T|.	0.81|.	-23.2731|-23.2731	15.9319|15.9319	0.79668|0.79668	0.0:0.3078:0.0:0.6922|0.0:0.3078:0.0:0.6922	.|.	279;279;1176;1227;1223;279;328|.	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4|.	.;.;.;ASTN2_HUMAN;.;.;.|.	D|M	1227;1223;328;279;950;1176;279|9	ENSP00000314038:E1227D;ENSP00000363108:E1223D;ENSP00000288520:E328D;ENSP00000339925:E279D;ENSP00000363098:E950D;ENSP00000354504:E1176D;ENSP00000355116:E279D|.	ENSP00000288520:E328D|.	E|R	-|-	3|2	2|0	ASTN2|ASTN2	118242810|118242810	0.122000|0.122000	0.22280|0.22280	0.919000|0.919000	0.36401|0.36401	0.996000|0.996000	0.88848|0.88848	-0.370000|-0.370000	0.07523|0.07523	-0.995000|-0.995000	0.03459|0.03459	-0.137000|-0.137000	0.14449|0.14449	GAG|AGG		0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		44	95	1	0	2.37825e-27	1	3.02505e-27	44	95				
NFRKB	4798	broad.mit.edu	37	11	129734650	129734650	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:129734650C>T	ENST00000446488.3	-	26	3973	c.3870G>A	c.(3868-3870)ccG>ccA	p.P1290P	NFRKB_ENST00000304521.5_Silent_p.P1290P|NFRKB_ENST00000524746.1_Silent_p.P1290P|NFRKB_ENST00000524794.1_Silent_p.P1315P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1290					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTTAGGAGACGGAGCTGTAG	0.542																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(3868-3870)ccG>ccA		nuclear factor related to kappaB binding protein							106.0	99.0	101.0					11																	129734650		2201	4297	6498	SO:0001819	synonymous_variant	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129734650C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3870G>A	11.37:g.129734650C>T						NFRKB_ENST00000524746.1_Silent_p.P1290P|NFRKB_ENST00000304521.5_Silent_p.P1290P|NFRKB_ENST00000524794.1_Silent_p.P1315P	p.P1290P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	26	3973	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	1290					Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	37	c.3870G>A	CCDS44770.1																																																																																				0.542	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		29	100	0	0	0	1	0	29	100				
OR2T33	391195	broad.mit.edu	37	1	248436832	248436832	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:248436832A>C	ENST00000318021.2	-	1	306	c.285T>G	c.(283-285)tgT>tgG	p.C95W		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95C(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGCACACCACAGCCAGCGC	0.582																																						ENST00000318021.2																			1	Substitution - coding silent(1)	p.C95C(1)	lung(1)	NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(283-285)tgT>tgG		olfactory receptor, family 2, subfamily T, member 33							73.0	66.0	68.0					1																	248436832		2203	4295	6498	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436832A>C		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.285T>G	1.37:g.248436832A>C	ENSP00000324687:p.Cys95Trp						p.C95W	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	306	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		95					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.285T>G	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	6.125	0.391266	0.11581	.	.	ENSG00000177212	ENST00000318021	T	0.00551	6.65	2.7	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38381	U	0.001701	T	0.04679	0.0127	H	0.99650	4.68	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.01165	-1.1431	10	0.87932	D	0	.	8.5572	0.33489	0.8931:0.0:0.1069:0.0	.	95	Q8NG76	O2T33_HUMAN	W	95	ENSP00000324687:C95W	ENSP00000324687:C95W	C	-	3	2	OR2T33	246503455	0.000000	0.05858	0.027000	0.17364	0.001000	0.01503	-1.378000	0.02556	0.123000	0.18342	-1.034000	0.02401	TGT		0.582	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		20	272	0	0	0	1	0	20	272				
VIM	7431	broad.mit.edu	37	10	17276720	17276720	+	Missense_Mutation	SNP	G	G	A	rs552165238		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:17276720G>A	ENST00000224237.5	+	5	1056	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	VIM_ENST00000544301.1_Missense_Mutation_p.R304Q|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	304	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGCCAACCGGAACAATGAC	0.488													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18764	0.0		0.0	False		,,,				2504	0.0					ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(910-912)cGg>cAg		vimentin							93.0	90.0	91.0					10																	17276720		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17276720G>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.911G>A	10.37:g.17276720G>A	ENSP00000224237:p.Arg304Gln					VIM_ENST00000224237.5_Missense_Mutation_p.R304Q|RP11-124N14.3_ENST00000456355.1_RNA	p.R304Q	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			6	1324	+			304			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.911G>A	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	g	34	5.338715	0.95783	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.88896	-2.44;-2.44;-2.44	6.05	6.05	0.98169	Filament (1);	0.148155	0.29699	N	0.011421	D	0.93588	0.7953	L	0.56280	1.765	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.979;0.961;0.971;0.991	D	0.93104	0.6511	10	0.66056	D	0.02	.	20.6031	0.99464	0.0:0.0:1.0:0.0	.	291;291;304;304	F5H288;B3KRK8;B0YJC4;P08670	.;.;.;VIME_HUMAN	Q	304;304;291;130	ENSP00000446007:R304Q;ENSP00000224237:R304Q;ENSP00000391842:R130Q	ENSP00000224237:R304Q	R	+	2	0	VIM	17316726	1.000000	0.71417	0.999000	0.59377	0.452000	0.32318	9.859000	0.99545	2.881000	0.98747	0.637000	0.83480	CGG		0.488	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		100	87	0	0	0	1	0	100	87				
GAL3ST1	9514	broad.mit.edu	37	22	30951149	30951149	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:30951149C>T	ENST00000402321.1	-	3	1380	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A355T|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A355T|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A355T			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	355					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGGATGGCGGCGGCGTCCACG	0.711																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1063-1065)Gcc>Acc		galactose-3-O-sulfotransferase 1							26.0	27.0	27.0					22																	30951149		2200	4295	6495	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951149C>T	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1063G>A	22.37:g.30951149C>T	ENSP00000385735:p.Ala355Thr					GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A355T|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A355T|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A355T	p.A355T			Q99999	G3ST1_HUMAN			3	1380	-			355					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.1063G>A	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	3.998	-0.003199	0.07773	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	5.55	2.34	0.29019	.	0.519116	0.21929	N	0.067049	T	0.09555	0.0235	N	0.21583	0.68	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.38650	-0.9651	10	0.13470	T	0.59	-19.6089	8.262	0.31790	0.0:0.599:0.0:0.401	.	355	Q99999	G3ST1_HUMAN	T	355	ENSP00000385825:A355T;ENSP00000385735:A355T;ENSP00000384122:A355T;ENSP00000384388:A355T;ENSP00000343234:A355T;ENSP00000385207:A355T;ENSP00000402587:A355T	ENSP00000343234:A355T	A	-	1	0	GAL3ST1	29281149	0.000000	0.05858	0.001000	0.08648	0.938000	0.57974	0.809000	0.27168	0.314000	0.23086	0.561000	0.74099	GCC		0.711	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	60	0	0	0	1	0	6	60				
ZNF716	441234	broad.mit.edu	37	7	57528729	57528729	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:57528729A>G	ENST00000420713.1	+	4	674	c.562A>G	c.(562-564)Aaa>Gaa	p.K188E		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TTTCAAATGTAAAAACGATGG	0.333																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(562-564)Aaa>Gaa		zinc finger protein 716							76.0	65.0	69.0					7																	57528729		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528729A>G	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.562A>G	7.37:g.57528729A>G	ENSP00000394248:p.Lys188Glu						p.K188E	NM_001159279.1	NP_001152751.1					4	674	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.562A>G	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	0.635	-0.815633	0.02776	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.14516	2.5	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	N	0.11756	0.17	0.09310	N	1	B	0.16166	0.016	B	0.13407	0.009	T	0.36915	-0.9728	9	0.39692	T	0.17	.	2.6102	0.04889	0.5591:0.0:0.4409:0.0	.	176	A6NP11	ZN716_HUMAN	E	188;176	ENSP00000394248:K188E	ENSP00000387687:K176E	K	+	1	0	ZNF716	57532671	0.000000	0.05858	0.032000	0.17829	0.031000	0.12232	-1.337000	0.02657	0.257000	0.21650	0.254000	0.18369	AAA		0.333	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		13	29	0	0	0	1	0	13	29				
RNF17	56163	broad.mit.edu	37	13	25453334	25453334	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:25453334C>T	ENST00000255324.5	+	35	4835	c.4783C>T	c.(4783-4785)Cca>Tca	p.P1595S	RNF17_ENST00000339524.3_Missense_Mutation_p.P605S|RNF17_ENST00000381921.1_Missense_Mutation_p.P1553S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1595					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GGCTCCAGCACCAGAACAGAT	0.413																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4783-4785)Cca>Tca		ring finger protein 17							86.0	79.0	82.0					13																	25453334		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25453334C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4783C>T	13.37:g.25453334C>T	ENSP00000255324:p.Pro1595Ser					RNF17_ENST00000381921.1_Missense_Mutation_p.P1553S|RNF17_ENST00000339524.3_Missense_Mutation_p.P605S	p.P1595S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	35	4835	+		Lung SC(185;0.0225)|Breast(139;0.077)	1595					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4783C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782453	0.70222	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.28255	1.62;1.62;1.62	5.56	5.56	0.83823	.	0.000000	0.53938	D	0.000045	T	0.39226	0.1070	N	0.17082	0.46	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;0.992;1.0	D;P;P;D	0.91635	0.997;0.706;0.876;0.999	T	0.15150	-1.0447	10	0.25751	T	0.34	-8.6558	16.4464	0.83935	0.0:1.0:0.0:0.0	.	1591;605;1589;1595	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	S	1595;1553;605	ENSP00000255324:P1595S;ENSP00000371346:P1553S;ENSP00000344776:P605S	ENSP00000255324:P1595S	P	+	1	0	RNF17	24351334	1.000000	0.71417	0.974000	0.42286	0.657000	0.38888	4.268000	0.58883	2.598000	0.87819	0.655000	0.94253	CCA		0.413	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		24	40	0	0	0	1	0	24	40				
CASC3	22794	broad.mit.edu	37	17	38319075	38319075	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:38319075C>T	ENST00000264645.7	+	6	932	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	236	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCGACAGGAGCTCATTGCTCT	0.512																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(706-708)Ctc>Ttc		cancer susceptibility candidate 3							98.0	93.0	94.0					17																	38319075		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38319075C>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.706C>T	17.37:g.38319075C>T	ENSP00000264645:p.Leu236Phe						p.L236F	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			6	932	+			236			Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.		A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.706C>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.814979	0.50527	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.72	5.72	0.89469	CASC3/Barentsz eIF4AIII binding (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77731	-0.2478	9	0.87932	D	0	-12.803	13.7744	0.63044	0.0:0.9256:0.0:0.0744	.	236;236	B4DKR6;O15234	.;CASC3_HUMAN	F	236	.	ENSP00000264645:L236F	L	+	1	0	CASC3	35572601	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.928000	0.70088	2.715000	0.92844	0.561000	0.74099	CTC		0.512	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		23	82	0	0	0	1	0	23	82				
EPC2	26122	broad.mit.edu	37	2	149541326	149541326	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:149541326G>A	ENST00000258484.6	+	12	2051		c.e12+1			NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)						chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CAGCCTTCAGGTACAGCTGGG	0.448																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.e12+1		enhancer of polycomb homolog 2 (Drosophila)							31.0	33.0	33.0					2																	149541326		1955	4148	6103	SO:0001630	splice_region_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149541326G>A	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.2017+1G>A	2.37:g.149541326G>A								NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	12	2051	+								B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Splice_Site	SNP	ENST00000258484.6	37		CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441818	0.83993	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPC2	149257796	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.454000	0.80714	2.826000	0.97356	0.655000	0.94253	.		0.448	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630	Intron	3	8	0	0	0	1	0	3	8				
KIAA1211	57482	broad.mit.edu	37	4	57179362	57179362	+	Splice_Site	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:57179362G>T	ENST00000504228.1	+	5	459		c.e5-1		KIAA1211_ENST00000541073.1_Splice_Site|KIAA1211_ENST00000264229.6_Splice_Site			Q6ZU35	K1211_HUMAN	KIAA1211											endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCCCTACAGGTTGCTCCCG	0.552																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.e5-1		KIAA1211							162.0	167.0	165.0					4																	57179362		1991	4155	6146	SO:0001630	splice_region_variant	57482							g.chr4:57179362G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.355-1G>T	4.37:g.57179362G>T						KIAA1211_ENST00000264229.6_Splice_Site|KIAA1211_ENST00000541073.1_Splice_Site				Q6ZU35	K1211_HUMAN			5	459	+	Glioma(25;0.08)|all_neural(26;0.101)							Q9NTE2|Q9NTP8|Q9ULK9	Splice_Site	SNP	ENST00000504228.1	37		CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894255	0.33442	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8483	0.92217	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1211	56874119	1.000000	0.71417	0.825000	0.32803	0.146000	0.21551	8.619000	0.90938	2.459000	0.83118	0.555000	0.69702	.		0.552	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	Intron	98	221	1	0	4.84059e-39	1	6.24857e-39	98	221				
AC005013.5	0	broad.mit.edu	37	7	28996795	28996795	+	lincRNA	SNP	T	T	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:28996795T>G	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							GGCAGCTGGCTCAGCCGATTA	0.692																																						ENST00000322982.3																			0													TLR4 interactor with leucine-rich repeats							6.0	8.0	7.0					7																	28996795		1978	4110	6088			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28996795T>G																													7.37:g.28996795T>G										Q7L0X0	TRIL_HUMAN			0	1139	-									RNA	SNP	ENST00000436594.1	37																																																																																						0.692	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			4	10	0	0	0	1	0	4	10				
LRRC14B	389257	broad.mit.edu	37	5	192397	192397	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:192397C>T	ENST00000328278.3	+	1	772	c.744C>T	c.(742-744)acC>acT	p.T248T		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	248										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCCTGCCCACCAAGGCCTTTG	0.697																																						ENST00000328278.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						c.(742-744)acC>acT		leucine rich repeat containing 14B							15.0	18.0	17.0					5																	192397		2087	4177	6264	SO:0001819	synonymous_variant	389257							g.chr5:192397C>T		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.744C>T	5.37:g.192397C>T							p.T248T	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN			1	772	+			248						Silent	SNP	ENST00000328278.3	37	c.744C>T	CCDS47184.1																																																																																				0.697	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		3	12	0	0	0	1	0	3	12				
AAK1	22848	broad.mit.edu	37	2	69870148	69870148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:69870148G>A	ENST00000409085.4	-	2	401	c.25C>T	c.(25-27)Cga>Tga	p.R9*	AAK1_ENST00000406297.3_Nonsense_Mutation_p.R9*|AAK1_ENST00000409068.1_Nonsense_Mutation_p.R9*	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	9					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCCTGCTCTCGCCGGGAGTCG	0.517																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(25-27)Cga>Tga		AP2 associated kinase 1							12.0	14.0	13.0					2																	69870148		1876	4094	5970	SO:0001587	stop_gained	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69870148G>A	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.25C>T	2.37:g.69870148G>A	ENSP00000386456:p.Arg9*					AAK1_ENST00000406297.3_Nonsense_Mutation_p.R9*|AAK1_ENST00000409068.1_Nonsense_Mutation_p.R9*	p.R9*	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			2	401	-			9					Q4ZFZ3|Q53RX6|Q9UPV4	Nonsense_Mutation	SNP	ENST00000409085.4	37	c.25C>T	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	G	37	6.615118	0.97705	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	.	.	.	4.55	3.65	0.41850	.	0.348582	0.26820	N	0.022328	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0974	11.4858	0.50352	0.0:0.0:0.819:0.181	.	.	.	.	X	9	.	ENSP00000385181:R9X	R	-	1	2	AAK1	69723652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	1.093000	0.41377	0.563000	0.77884	CGA		0.517	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		7	12	0	0	0	1	0	7	12				
SPANXD	64648	broad.mit.edu	37	X	140785838	140785838	+	Silent	SNP	C	C	A	rs201199081		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:140785838C>A	ENST00000370515.3	-	2	411	c.78G>T	c.(76-78)ccG>ccT	p.P26P		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	26						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCGAGGTCTCCGGCATCTGTT	0.488																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(76-78)ccG>ccT		SPANX family, member D							154.0	111.0	126.0					X																	140785838		2198	4260	6458	SO:0001819	synonymous_variant	64648							g.chrX:140785838C>A	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.78G>T	X.37:g.140785838C>A							p.P26P	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	411	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Silent	SNP	ENST00000370515.3	37	c.78G>T	CCDS14675.1																																																																																				0.488	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			65	317	1	0	2.59843e-28	1	3.31204e-28	65	317				
ZPBP	11055	broad.mit.edu	37	7	50132758	50132758	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:50132758C>A	ENST00000046087.2	-	1	102	c.33G>T	c.(31-33)cgG>cgT	p.R11R	C7orf72_ENST00000297001.6_5'Flank|ZPBP_ENST00000419417.1_Silent_p.R11R	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	11					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					gccgcctgccccgccgcgcTG	0.736																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(31-33)cgG>cgT		zona pellucida binding protein							2.0	4.0	3.0					7																	50132758		1634	3342	4976	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50132758C>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.33G>T	7.37:g.50132758C>A						ZPBP_ENST00000419417.1_Silent_p.R11R	p.R11R	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			1	102	-	Glioma(55;0.08)|all_neural(89;0.245)		11					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.33G>T	CCDS5509.1																																																																																				0.736	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		3	6	1	0	0.115264	1	0.11622	3	6				
RBP3	5949	broad.mit.edu	37	10	48385935	48385935	+	Missense_Mutation	SNP	C	C	T	rs140160521		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:48385935C>T	ENST00000224600.4	-	2	3270	c.3157G>A	c.(3157-3159)Ggt>Agt	p.G1053S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1053	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCAGCTCACCGTCCCCAAAC	0.517																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3157-3159)Ggt>Agt		retinol binding protein 3, interstitial	Vitamin A(DB00162)	C	SER/GLY	0,4406		0,0,2203	133.0	120.0	125.0		3157	1.3	0.9	10	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBP3	NM_002900.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1053/1248	48385935	1,13005	2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48385935C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3157G>A	10.37:g.48385935C>T	ENSP00000224600:p.Gly1053Ser						p.G1053S	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			2	3270	-			1053			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.3157G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529292	0.44969	0.0	1.16E-4	ENSG00000107618	ENST00000224600	T	0.62498	0.02	5.14	1.32	0.21799	Interphotoreceptor retinol-binding (2);	0.295830	0.43747	D	0.000524	T	0.35008	0.0917	N	0.08118	0	0.24761	N	0.992921	B	0.06786	0.001	B	0.04013	0.001	T	0.14643	-1.0465	10	0.31617	T	0.26	-2.2279	6.566	0.22513	0.4943:0.2663:0.0:0.2394	.	1053	P10745	RET3_HUMAN	S	1053	ENSP00000224600:G1053S	ENSP00000224600:G1053S	G	-	1	0	RBP3	48005941	0.998000	0.40836	0.871000	0.34182	0.984000	0.73092	1.328000	0.33758	0.029000	0.15352	-0.397000	0.06425	GGT		0.517	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		26	122	0	0	0	1	0	26	122				
TECRL	253017	broad.mit.edu	37	4	65240897	65240897	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:65240897G>A	ENST00000381210.3	-	2	389	c.279C>T	c.(277-279)caC>caT	p.H93H	TECRL_ENST00000507440.1_Silent_p.H93H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	93					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TACATGCTTTGTGAAACTTTT	0.229																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(277-279)caC>caT		trans-2,3-enoyl-CoA reductase-like							9.0	10.0	10.0					4																	65240897		2077	4118	6195	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65240897G>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.279C>T	4.37:g.65240897G>A						TECRL_ENST00000507440.1_Silent_p.H93H	p.H93H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			2	389	-			93						Silent	SNP	ENST00000381210.3	37	c.279C>T	CCDS33990.1																																																																																				0.229	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		3	15	0	0	0	1	0	3	15				
FSTL5	56884	broad.mit.edu	37	4	162577617	162577617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:162577617G>A	ENST00000306100.5	-	7	1193	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q252*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q252*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q252*|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	253	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTAGTTTCTGATCTTCTGGC	0.408																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(757-759)Cag>Tag		follistatin-like 5							94.0	86.0	89.0					4																	162577617		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162577617G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.757C>T	4.37:g.162577617G>A	ENSP00000305334:p.Gln253*					FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q252*|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q252*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q252*	p.Q253*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1193	-	all_hematologic(180;0.24)		253			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.757C>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	39	7.413828	0.98269	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.24	5.24	0.73138	.	0.121284	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	13.8627	0.63571	0.0:0.1527:0.8473:0.0	.	.	.	.	X	253;252;252;252	.	ENSP00000305334:Q253X	Q	-	1	0	FSTL5	162797067	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	9.420000	0.97426	2.598000	0.87819	0.650000	0.86243	CAG		0.408	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		21	69	0	0	0	1	0	21	69				
ARHGEF40	55701	broad.mit.edu	37	14	21541242	21541242	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:21541242C>T	ENST00000298694.4	+	2	169	c.42C>T	c.(40-42)ctC>ctT	p.L14L	NDRG2_ENST00000403829.3_5'Flank|ARHGEF40_ENST00000298693.3_Silent_p.L14L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	14						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGAGCACTCTCGCCGCCCTGT	0.592																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(40-42)ctC>ctT		Rho guanine nucleotide exchange factor (GEF) 40							112.0	97.0	102.0					14																	21541242		2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21541242C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.42C>T	14.37:g.21541242C>T						ARHGEF40_ENST00000298693.3_Silent_p.L14L	p.L14L			Q8TER5	ARH40_HUMAN			2	169	+			14					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.42C>T	CCDS32041.1																																																																																				0.592	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			6	72	0	0	0	1	0	6	72				
RAI1	10743	broad.mit.edu	37	17	17698485	17698485	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:17698485C>T	ENST00000353383.1	+	3	2692	c.2223C>T	c.(2221-2223)gcC>gcT	p.A741A	RAI1_ENST00000261641.6_Silent_p.A741A	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	741					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGGACAGCGCCAACCCCTTTG	0.622																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2221-2223)gcC>gcT		retinoic acid induced 1							53.0	58.0	56.0					17																	17698485		2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698485C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2223C>T	17.37:g.17698485C>T						RAI1_ENST00000261641.6_Silent_p.A741A	p.A741A	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2692	+			741					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.2223C>T	CCDS11188.1																																																																																				0.622	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		20	82	0	0	0	1	0	20	82				
BRSK1	84446	broad.mit.edu	37	19	55805452	55805452	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:55805452G>T	ENST00000309383.1	+	5	803	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	BRSK1_ENST00000590333.1_Missense_Mutation_p.G192C|BRSK1_ENST00000585418.1_Missense_Mutation_p.G176C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGCAGACTTCGGCATGGCGTC	0.612																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(526-528)Ggc>Tgc		BR serine/threonine kinase 1							158.0	166.0	163.0					19																	55805452		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55805452G>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.526G>T	19.37:g.55805452G>T	ENSP00000310649:p.Gly176Cys					BRSK1_ENST00000590333.1_Missense_Mutation_p.G192C|BRSK1_ENST00000585418.1_Missense_Mutation_p.G176C	p.G176C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	5	803	+		Renal(1328;0.245)	176			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.526G>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	27.2	4.806217	0.90623	.	.	ENSG00000160469	ENST00000309383	T	0.80123	-1.34	4.79	4.79	0.61399	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	D	0.93910	0.8051	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96377	0.9278	10	0.87932	D	0	.	16.9671	0.86288	0.0:0.0:1.0:0.0	.	176;192	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	C	176	ENSP00000310649:G176C	ENSP00000310649:G176C	G	+	1	0	BRSK1	60497264	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.123000	0.94387	2.371000	0.80710	0.561000	0.74099	GGC		0.612	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		84	124	1	0	1.79992e-35	1	2.31364e-35	84	124				
RPS6KA2	6196	broad.mit.edu	37	6	166902391	166902391	+	Silent	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:166902391C>G	ENST00000265678.4	-	10	1060	c.837G>C	c.(835-837)ccG>ccC	p.P279P	RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000481261.2_Silent_p.P190P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000510118.1_Silent_p.P304P|RPS6KA2_ENST00000366863.2_Silent_p.P125P	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	279	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.P287P(1)|p.P279P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAGGAACTGCGGCATCCCCA	0.537																																						ENST00000510118.1																			2	Substitution - coding silent(2)	p.P287P(1)|p.P279P(1)	large_intestine(2)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(910-912)ccG>ccC		ribosomal protein S6 kinase, 90kDa, polypeptide 2							46.0	45.0	46.0					6																	166902391		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166902391C>G	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.837G>C	6.37:g.166902391C>G						RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000265678.4_Silent_p.P279P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000481261.2_Silent_p.P190P|RPS6KA2_ENST00000503859.1_Silent_p.P287P	p.P304P			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	12	1252	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	279			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.912G>C	CCDS5294.1																																																																																				0.537	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		11	34	0	0	0	1	0	11	34				
IL18R1	8809	broad.mit.edu	37	2	103003414	103003414	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:103003414C>T	ENST00000409599.1	+	9	1259	c.903C>T	c.(901-903)gcC>gcT	p.A301A	IL18R1_ENST00000233957.1_Silent_p.A301A			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	301	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCACTGTGGCCAGCACGGGAG	0.383																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(901-903)gcC>gcT		interleukin 18 receptor 1							101.0	105.0	103.0					2																	103003414		2203	4300	6503	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103003414C>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.903C>T	2.37:g.103003414C>T						IL18R1_ENST00000233957.1_Silent_p.A301A	p.A301A			Q13478	IL18R_HUMAN			9	1259	+			301			Ig-like C2-type 3.		B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.903C>T	CCDS2060.1																																																																																				0.383	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		25	100	0	0	0	1	0	25	100				
DIRAS2	54769	broad.mit.edu	37	9	93375519	93375519	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:93375519C>A	ENST00000375765.3	-	2	979	c.591G>T	c.(589-591)gtG>gtT	p.V197V		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	197					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTCACATGATCACGCACTTGC	0.557																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(589-591)gtG>gtT		DIRAS family, GTP-binding RAS-like 2							182.0	161.0	168.0					9																	93375519		2203	4300	6503	SO:0001819	synonymous_variant	54769				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375519C>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.591G>T	9.37:g.93375519C>A							p.V197V	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	979	-			197					B3KVM2	Silent	SNP	ENST00000375765.3	37	c.591G>T	CCDS6687.1																																																																																				0.557	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			20	64	1	0	1.96292e-10	1	2.18582e-10	20	64				
MAP4	4134	broad.mit.edu	37	3	47958459	47958459	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:47958459C>T	ENST00000360240.6	-	7	1376	c.858G>A	c.(856-858)gtG>gtA	p.V286V	MAP4_ENST00000395734.3_Silent_p.V286V|MAP4_ENST00000426837.2_Silent_p.V303V|MAP4_ENST00000383737.4_Silent_p.V286V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	286	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGCCAGTGTCACATCTAATT	0.483																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(907-909)gtG>gtA		microtubule-associated protein 4							395.0	336.0	356.0					3																	47958459		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958459C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.858G>A	3.37:g.47958459C>T						MAP4_ENST00000383737.4_Silent_p.V286V|MAP4_ENST00000395734.3_Silent_p.V286V|MAP4_ENST00000360240.6_Silent_p.V286V	p.V303V			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	996	-			286			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.909G>A	CCDS33750.1																																																																																				0.483	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		8	371	0	0	0	1	0	8	371				
WFIKKN2	124857	broad.mit.edu	37	17	48918183	48918183	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:48918183G>T	ENST00000311378.4	+	2	2062	c.1534G>T	c.(1534-1536)Gac>Tac	p.D512Y	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.D419Y|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	512	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTTCACGTGGACTGGGCATG	0.627																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1534-1536)Gac>Tac		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							75.0	50.0	58.0					17																	48918183		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48918183G>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1534G>T	17.37:g.48918183G>T	ENSP00000311184:p.Asp512Tyr					RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.D419Y	p.D512Y	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	2062	+			512			NTR.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1534G>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403053	0.62288	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.34472	1.36;1.36	5.12	5.12	0.69794	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.64305	-0.6439	10	0.87932	D	0	.	13.2776	0.60196	0.0766:0.0:0.9234:0.0	.	512	Q8TEU8	WFKN2_HUMAN	Y	419;512;218	ENSP00000405889:D419Y;ENSP00000311184:D512Y	ENSP00000311184:D512Y	D	+	1	0	WFIKKN2	46273182	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	6.776000	0.75023	2.539000	0.85634	0.561000	0.74099	GAC		0.627	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		17	32	1	0	6.94344e-10	1	7.66173e-10	17	32				
CTTN	2017	broad.mit.edu	37	11	70281209	70281209	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:70281209G>T	ENST00000301843.8	+	18	1800	c.1594G>T	c.(1594-1596)Ggg>Tgg	p.G532W	CTTN_ENST00000346329.3_Missense_Mutation_p.G495W|CTTN_ENST00000376561.3_Missense_Mutation_p.G495W|CTTN_ENST00000538675.1_Missense_Mutation_p.G216W	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	532	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CTGGTGGCGCGGGGTGTGCAA	0.617																																						ENST00000301843.8																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1594-1596)Ggg>Tgg		cortactin							68.0	61.0	63.0					11																	70281209		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281209G>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1594G>T	11.37:g.70281209G>T	ENSP00000301843:p.Gly532Trp					CTTN_ENST00000376561.3_Missense_Mutation_p.G495W|CTTN_ENST00000346329.3_Missense_Mutation_p.G495W|CTTN_ENST00000538675.1_Missense_Mutation_p.G216W	p.G532W	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	1800	+			532			SH3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1594G>T	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591999	0.66219	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.65732	-0.17;-0.17;0.29;0.29;0.29	5.82	5.82	0.92795	Src homology-3 domain (5);	0.177531	0.50627	D	0.000101	D	0.89427	0.6712	H	0.99516	4.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93563	0.6897	10	0.87932	D	0	-40.2824	20.0989	0.97860	0.0:0.0:1.0:0.0	.	216;495;532;495	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	W	495;532;495;216;189	ENSP00000317189:G495W;ENSP00000301843:G532W;ENSP00000365745:G495W;ENSP00000439762:G216W;ENSP00000431421:G189W	ENSP00000301843:G532W	G	+	1	0	CTTN	69958857	1.000000	0.71417	0.831000	0.32960	0.111000	0.19643	9.579000	0.98204	2.740000	0.93945	0.655000	0.94253	GGG		0.617	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		22	243	1	0	2.32416e-17	1	2.77076e-17	22	243				
C12orf4	57102	broad.mit.edu	37	12	4639179	4639179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:4639179C>T	ENST00000261250.3	-	4	449	c.362G>A	c.(361-363)tGg>tAg	p.W121*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.W121*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	121										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATCTTCATCCCAGCTGGGTTC	0.348																																						ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(361-363)tGg>tAg		chromosome 12 open reading frame 4							99.0	97.0	98.0					12																	4639179		2203	4300	6503	SO:0001587	stop_gained	57102							g.chr12:4639179C>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.362G>A	12.37:g.4639179C>T	ENSP00000261250:p.Trp121*					C12orf4_ENST00000545746.1_Nonsense_Mutation_p.W121*	p.W121*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	4	449	-			121					D3DUQ8|Q6MZH5	Nonsense_Mutation	SNP	ENST00000261250.3	37	c.362G>A	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	38	7.044838	0.98025	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000542080	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.6132	0.88060	0.0:1.0:0.0:0.0	.	.	.	.	X	121;121;74	.	ENSP00000261250:W121X	W	-	2	0	C12orf4	4509440	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.338000	0.79269	2.658000	0.90341	0.650000	0.86243	TGG		0.348	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		25	108	0	0	0	1	0	25	108				
CYP4F24P	388514	broad.mit.edu	37	19	15890560	15890560	+	IGR	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:15890560G>T								LLNLR-249E10.1 (8922 upstream) : OR10H5 (14200 downstream)																							TCTGTTTTGGGGGTTGTGGAA	0.587																																						ENST00000587443.2																			0																																																	SO:0001628	intergenic_variant	388514							g.chr19:15890560G>T																													19.37:g.15890560G>T								NR_033864.1						0	237	-									RNA	SNP		37																																																																																					0	0.587									6	46	1	0	0.248553	1	0.249373	6	46				
P2RY6	5031	broad.mit.edu	37	11	73007627	73007627	+	Missense_Mutation	SNP	G	G	C	rs61745521		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:73007627G>C	ENST00000393590.2	+	2	363	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	P2RY6_ENST00000538328.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000542092.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000540342.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000349767.2_Missense_Mutation_p.E22Q|P2RY6_ENST00000393592.2_Missense_Mutation_p.E22Q|P2RY6_ENST00000393591.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000540124.1_Missense_Mutation_p.E22Q	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	22					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)	p.E22*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						TGTCTACCGCGAGAACTTCAA	0.607																																						ENST00000393590.2																			1	Substitution - Nonsense(1)	p.E22*(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(64-66)Gag>Cag		pyrimidinergic receptor P2Y, G-protein coupled, 6							116.0	124.0	122.0					11																	73007627		2200	4293	6493	SO:0001583	missense	5031				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73007627G>C		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.64G>C	11.37:g.73007627G>C	ENSP00000377215:p.Glu22Gln					P2RY6_ENST00000349767.2_Missense_Mutation_p.E22Q|P2RY6_ENST00000393591.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000542092.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000540342.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000393592.2_Missense_Mutation_p.E22Q|P2RY6_ENST00000540124.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000538328.1_Missense_Mutation_p.E22Q	p.E22Q	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	363	+			22					Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.64G>C	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608937	0.66558	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000544437;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	L	0.60455	1.87	0.58432	D	0.999995	D	0.76494	0.999	D	0.81914	0.995	T	0.60276	-0.7295	10	0.66056	D	0.02	.	16.265	0.82571	0.0:0.0:1.0:0.0	.	22	Q15077	P2RY6_HUMAN	Q	22	ENSP00000443427:E22Q;ENSP00000445652:E22Q;ENSP00000309771:E22Q;ENSP00000377217:E22Q;ENSP00000441079:E22Q;ENSP00000377216:E22Q;ENSP00000442551:E22Q;ENSP00000377215:E22Q;ENSP00000440770:E22Q;ENSP00000442990:E22Q	ENSP00000309771:E22Q	E	+	1	0	P2RY6	72685275	1.000000	0.71417	0.903000	0.35520	0.381000	0.30169	9.590000	0.98238	2.367000	0.80283	0.491000	0.48974	GAG		0.607	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			51	206	0	0	0	1	0	51	206				
SLC12A9	56996	broad.mit.edu	37	7	100451982	100451982	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:100451982G>T	ENST00000354161.3	+	2	288	c.163G>T	c.(163-165)Gtt>Ttt	p.V55F	SLC12A9_ENST00000415287.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V55F|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V55F|RP11-126L15.4_ENST00000412754.1_RNA	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	55					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTCAGCATAGTTGTTTTTCT	0.602																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(163-165)Gtt>Ttt		solute carrier family 12, member 9							127.0	129.0	129.0					7																	100451982		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100451982G>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.163G>T	7.37:g.100451982G>T	ENSP00000275730:p.Val55Phe					SLC12A9_ENST00000428758.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000415287.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V55F	p.V55F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			2	288	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		55					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.163G>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552808	0.65425	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675;ENST00000434158	D;D;D;D;D;D;D	0.98822	-5.16;-5.16;-2.85;-2.85;-5.16;-2.38;-5.16	4.53	4.53	0.55603	Amino acid permease domain (1);	0.085770	0.45361	D	0.000364	D	0.98852	0.9612	M	0.75615	2.305	0.47245	D	0.999362	D;D	0.69078	0.98;0.997	P;D	0.75020	0.868;0.985	D	0.98847	1.0757	10	0.42905	T	0.14	.	14.7812	0.69769	0.0:0.0:1.0:0.0	.	55;55	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	F	55	ENSP00000443702:V55F;ENSP00000408301:V55F;ENSP00000275729:V55F;ENSP00000413796:V55F;ENSP00000275730:V55F;ENSP00000410692:V55F;ENSP00000408571:V55F	ENSP00000275729:V55F	V	+	1	0	SLC12A9	100289918	1.000000	0.71417	0.961000	0.40146	0.933000	0.57130	5.891000	0.69782	2.340000	0.79590	0.407000	0.27541	GTT		0.602	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		14	34	1	0	1.99824e-07	1	2.16179e-07	14	34				
CUL1	8454	broad.mit.edu	37	7	148485671	148485671	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:148485671C>T	ENST00000325222.4	+	14	1781	c.1502C>T	c.(1501-1503)aCc>aTc	p.T501I	CUL1_ENST00000409469.1_Missense_Mutation_p.T501I|CUL1_ENST00000602748.1_Missense_Mutation_p.T501I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	501					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCGAGTACACCTCTAAACTT	0.408																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(1501-1503)aCc>aTc		cullin 1							116.0	109.0	112.0					7																	148485671		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148485671C>T	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1502C>T	7.37:g.148485671C>T	ENSP00000326804:p.Thr501Ile					CUL1_ENST00000409469.1_Missense_Mutation_p.T501I|CUL1_ENST00000602748.1_Missense_Mutation_p.T501I	p.T501I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		14	1781	+	Melanoma(164;0.15)		501					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1502C>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164992	0.94727	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.81247	-1.47;-1.47	5.39	5.39	0.77823	Cullin, N-terminal (1);Cullin homology (3);	0.093548	0.64402	D	0.000001	D	0.93220	0.7840	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94771	0.7945	10	0.87932	D	0	-2.0863	19.5308	0.95228	0.0:1.0:0.0:0.0	.	428;501	E7EWR0;Q13616	.;CUL1_HUMAN	I	501;501;459;428	ENSP00000387160:T501I;ENSP00000326804:T501I	ENSP00000326804:T501I	T	+	2	0	CUL1	148116604	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	7.534000	0.82004	2.684000	0.91462	0.650000	0.86243	ACC		0.408	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		47	177	0	0	0	1	0	47	177				
SALL1	6299	broad.mit.edu	37	16	51175655	51175655	+	Missense_Mutation	SNP	C	C	T	rs113614842|rs199760974	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:51175655C>T	ENST00000251020.4	-	2	511	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Missense_Mutation_p.G63S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	160	Poly-Gly.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgccgctgctgctg	0.632													c|||	53	0.0105831	0.0234	0.0014	5008	,	,		12568	0.0		0.0	False		,,,				2504	0.0215				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(187-189)Ggc>Agc		spalt-like transcription factor 1							24.0	26.0	25.0					16																	51175655		2196	4299	6495	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175655C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.478G>A	16.37:g.51175655C>T	ENSP00000251020:p.Gly160Ser					SALL1_ENST00000251020.4_Missense_Mutation_p.G160S|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.G63S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	618	-		all_cancers(37;0.0322)	160					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.187G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.627404	0.00007	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06849	3.36;3.25	0.817	-1.63	0.08345	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44003	-0.9356	9	0.02654	T	1	.	4.4659	0.11689	0.0:0.5444:0.0:0.4556	.	160	Q9NSC2	SALL1_HUMAN	S	160;63;124	ENSP00000251020:G160S;ENSP00000407914:G63S	ENSP00000251020:G160S	G	-	1	0	SALL1	49733156	1.000000	0.71417	0.002000	0.10522	0.010000	0.07245	1.889000	0.39718	-0.863000	0.04084	-1.054000	0.02325	GGC		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		4	77	0	0	0	1	0	4	77				
ZNF862	643641	broad.mit.edu	37	7	149558848	149558848	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:149558848G>C	ENST00000223210.4	+	7	2844	c.2599G>C	c.(2599-2601)Gag>Cag	p.E867Q	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	867					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCTGATTACAGAGGTGAACGC	0.582																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(2599-2601)Gag>Cag		zinc finger protein 862							31.0	34.0	33.0					7																	149558848		2120	4224	6344	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558848G>C	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2599G>C	7.37:g.149558848G>C	ENSP00000223210:p.Glu867Gln						p.E867Q	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	2844	+			867					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2599G>C	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131687	0.56828	.	.	ENSG00000106479	ENST00000223210	T	0.21031	2.03	5.38	5.38	0.77491	.	0.000000	0.53938	D	0.000046	T	0.25754	0.0627	N	0.20986	0.625	0.28308	N	0.92281	P	0.46987	0.888	P	0.56612	0.802	T	0.07065	-1.0792	10	0.18710	T	0.47	-20.4246	14.6646	0.68899	0.0:0.0:1.0:0.0	.	867	O60290	ZN862_HUMAN	Q	867	ENSP00000223210:E867Q	ENSP00000223210:E867Q	E	+	1	0	ZNF862	149189781	0.994000	0.37717	0.992000	0.48379	0.990000	0.78478	2.722000	0.47269	2.532000	0.85374	0.650000	0.86243	GAG		0.582	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		14	25	0	0	0	1	0	14	25				
DOK4	55715	broad.mit.edu	37	16	57509780	57509780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:57509780G>T	ENST00000340099.4	-	3	527	c.156C>A	c.(154-156)tgC>tgA	p.C52*	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Nonsense_Mutation_p.C52*|DOK4_ENST00000566936.1_Nonsense_Mutation_p.C52*	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	52	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						AGCCCCGGAGGCACACCGACT	0.642																																						ENST00000566936.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						c.(154-156)tgC>tgA		docking protein 4							42.0	47.0	45.0					16																	57509780		2198	4300	6498	SO:0001587	stop_gained	55715						insulin receptor binding	g.chr16:57509780G>T	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.156C>A	16.37:g.57509780G>T	ENSP00000344277:p.Cys52*					DOK4_ENST00000569548.1_Nonsense_Mutation_p.C52*|DOK4_ENST00000340099.4_Nonsense_Mutation_p.C52*|DOK4_ENST00000561918.1_5'UTR	p.C52*			Q8TEW6	DOK4_HUMAN			2	453	-			52			PH.		O75209|Q9BTP2|Q9NVV3	Nonsense_Mutation	SNP	ENST00000340099.4	37	c.156C>A	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465272	0.96257	.	.	ENSG00000125170	ENST00000340099	.	.	.	5.44	3.36	0.38483	.	0.230194	0.41294	D	0.000905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.0097	5.8813	0.18856	0.2889:0.0:0.7111:0.0	.	.	.	.	X	52	.	ENSP00000344277:C52X	C	-	3	2	DOK4	56067281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.745000	0.47459	1.527000	0.49086	0.650000	0.86243	TGC		0.642	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			13	37	1	0	0.000308642	1	0.000319684	13	37				
PDCL	5082	broad.mit.edu	37	9	125588917	125588917	+	Silent	SNP	G	G	T	rs111903667	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:125588917G>T	ENST00000259467.4	-	2	315	c.150C>A	c.(148-150)ggC>ggA	p.G50G		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	50					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						AGATGCCTTCGCCTGCCAGCT	0.473																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(148-150)ggC>ggA		phosducin-like							71.0	63.0	66.0					9																	125588917		2203	4300	6503	SO:0001819	synonymous_variant	5082				signal transduction|visual perception			g.chr9:125588917G>T	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.150C>A	9.37:g.125588917G>T							p.G50G	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			2	315	-			50					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Silent	SNP	ENST00000259467.4	37	c.150C>A	CCDS6845.1																																																																																				0.473	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		18	53	1	0	3.41278e-10	1	3.78644e-10	18	53				
OR9G4	283189	broad.mit.edu	37	11	56510691	56510691	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:56510691C>T	ENST00000302957.3	-	1	596	c.597G>A	c.(595-597)ttG>ttA	p.L199L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACATTTTTACCAATGGTGGTG	0.433																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(595-597)ttG>ttA		olfactory receptor, family 9, subfamily G, member 4							73.0	68.0	70.0					11																	56510691		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510691C>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.597G>A	11.37:g.56510691C>T							p.L199L	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	596	-			199					Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.597G>A	CCDS31537.1																																																																																				0.433	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		10	61	0	0	0	1	0	10	61				
HAO1	54363	broad.mit.edu	37	20	7866475	7866475	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:7866475C>A	ENST00000378789.3	-	6	901	c.850G>T	c.(850-852)Ggg>Tgg	p.G284W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	284	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCACCTTCCCTTCCACAGCC	0.483																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(850-852)Ggg>Tgg		hydroxyacid oxidase (glycolate oxidase) 1							104.0	104.0	104.0					20																	7866475		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7866475C>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.850G>T	20.37:g.7866475C>A	ENSP00000368066:p.Gly284Trp						p.G284W	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			6	901	-			284			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.850G>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770793	0.90108	.	.	ENSG00000101323	ENST00000378789	T	0.35605	1.3	5.94	5.94	0.96194	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.75027	0.3794	H	0.97051	3.93	0.80722	D	1	D;D	0.59767	0.986;0.986	D;D	0.73380	0.98;0.98	T	0.82870	-0.0243	10	0.87932	D	0	-23.5003	20.3523	0.98815	0.0:1.0:0.0:0.0	.	284;284	A8K058;Q9UJM8	.;HAOX1_HUMAN	W	284	ENSP00000368066:G284W	ENSP00000368066:G284W	G	-	1	0	HAO1	7814475	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.456000	0.80751	2.821000	0.97095	0.484000	0.47621	GGG		0.483	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			44	78	1	0	9.58827e-17	1	1.13197e-16	44	78				
OR5M9	390162	broad.mit.edu	37	11	56230518	56230518	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:56230518C>T	ENST00000279791.1	-	1	359	c.360G>A	c.(358-360)agG>agA	p.R120R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CGGCCATGTACCTGTCAAAGG	0.483																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(358-360)agG>agA		olfactory receptor, family 5, subfamily M, member 9							113.0	108.0	110.0					11																	56230518		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230518C>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.360G>A	11.37:g.56230518C>T							p.R120R	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	359	-	Esophageal squamous(21;0.00448)		120					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.360G>A	CCDS31531.1																																																																																				0.483	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		32	133	0	0	0	1	0	32	133				
PDE5A	8654	broad.mit.edu	37	4	120549802	120549802	+	Missense_Mutation	SNP	C	C	A	rs374654706		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:120549802C>A	ENST00000354960.3	-	1	344	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	PDE5A_ENST00000394439.1_5'Flank|PDE5A_ENST00000264805.5_5'Flank	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	9					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	cgctgctgcCCGAAGCTGGGG	0.642											OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(25-27)Ggg>Tgg		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						46.0	37.0	40.0					4																	120549802		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120549802C>A	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.25G>T	4.37:g.120549802C>A	ENSP00000347046:p.Gly9Trp		OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1504		p.G9W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			1	344	-			9					A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.25G>T	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198716	0.38806	.	.	ENSG00000138735	ENST00000354960	T	0.63255	-0.03	5.31	4.47	0.54385	.	5.777730	0.02427	U	0.083100	T	0.60077	0.2241	L	0.36672	1.1	0.80722	D	1	D	0.54397	0.966	B	0.40506	0.331	T	0.54609	-0.8268	10	0.87932	D	0	.	14.8284	0.70130	0.0:0.8455:0.1545:0.0	.	9	O76074	PDE5A_HUMAN	W	9	ENSP00000347046:G9W	ENSP00000347046:G9W	G	-	1	0	PDE5A	120769250	0.035000	0.19736	0.025000	0.17156	0.225000	0.24961	1.156000	0.31712	1.464000	0.47987	0.491000	0.48974	GGG		0.642	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		19	65	1	0	7.07596e-05	1	7.39207e-05	19	65				
HERC2	8924	broad.mit.edu	37	15	28473446	28473446	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:28473446G>A	ENST00000261609.7	-	35	5490	c.5382C>T	c.(5380-5382)acC>acT	p.T1794T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTGCTGCAGGGTGAGCATGC	0.622																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(5380-5382)acC>acT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							95.0	71.0	79.0					15																	28473446		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28473446G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5382C>T	15.37:g.28473446G>A							p.T1794T	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	35	5490	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1794						Silent	SNP	ENST00000261609.7	37	c.5382C>T	CCDS10021.1																																																																																				0.622	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		12	32	0	0	0	1	0	12	32				
POU5F1B	5462	broad.mit.edu	37	8	128428308	128428308	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:128428308C>T	ENST00000465342.2	+	2	1354	c.197C>T	c.(196-198)cCg>cTg	p.P66L	POU5F1B_ENST00000391675.1_Missense_Mutation_p.P66L|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TGCCCCCCGCCGTATGAGTTA	0.657																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(196-198)cCg>cTg		POU class 5 homeobox 1B							1.0	2.0	1.0					8																	128428308		399	1122	1521	SO:0001583	missense	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428308C>T	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.197C>T	8.37:g.128428308C>T	ENSP00000419298:p.Pro66Leu					CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P66L|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA	p.P66L			Q06416	P5F1B_HUMAN			2	1354	+			66					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	ENST00000465342.2	37	c.197C>T	CCDS55274.1	.	.	.	.	.	.	.	.	.	.	C	5.826	0.336618	0.11013	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.59772	0.24;0.24	1.21	0.235	0.15431	.	0.000000	0.44483	D	0.000451	T	0.35711	0.0941	L	0.29908	0.895	0.09310	N	1	B	0.16603	0.018	B	0.15052	0.012	T	0.09100	-1.0690	10	0.30854	T	0.27	.	3.3686	0.07212	0.0:0.7012:0.0:0.2988	.	66	Q06416	P5F1B_HUMAN	L	66	ENSP00000419298:P66L;ENSP00000375557:P66L	ENSP00000375557:P66L	P	+	2	0	POU5F1B	128497490	0.008000	0.16893	0.000000	0.03702	0.049000	0.14656	-0.108000	0.10857	0.095000	0.17434	0.121000	0.15741	CCG		0.657	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		5	25	0	0	0	1	0	5	25				
OR4N2	390429	broad.mit.edu	37	14	20295760	20295760	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:20295760A>G	ENST00000315947.1	+	1	153	c.153A>G	c.(151-153)tcA>tcG	p.S51S	OR4N2_ENST00000568211.1_Silent_p.S51S	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATAAAGTCAGACCCTGGGC	0.468																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(151-153)tcA>tcG		olfactory receptor, family 4, subfamily N, member 2							184.0	221.0	208.0					14																	20295760		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295760A>G		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.153A>G	14.37:g.20295760A>G						OR4N2_ENST00000315947.1_Silent_p.S51S	p.S51S			Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	153	+	all_cancers(95;0.00108)		51					Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.153A>G	CCDS32022.1																																																																																				0.468	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			19	353	0	0	0	1	0	19	353				
BANP	54971	broad.mit.edu	37	16	88052149	88052149	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:88052149G>A	ENST00000393207.1	+	7	968	c.747G>A	c.(745-747)gaG>gaA	p.E249E	BANP_ENST00000355163.5_Silent_p.E224E|BANP_ENST00000479780.2_Silent_p.E218E|BANP_ENST00000286122.7_Silent_p.E249E|BANP_ENST00000538234.1_Silent_p.E257E|BANP_ENST00000393208.2_Silent_p.E218E|BANP_ENST00000355022.4_Silent_p.E218E	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	249	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.|Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCACGGCCGAGAAGATGGCGC	0.652																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(745-747)gaG>gaA		BTG3 associated nuclear protein							55.0	43.0	47.0					16																	88052149		2197	4300	6497	SO:0001819	synonymous_variant	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88052149G>A	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.747G>A	16.37:g.88052149G>A						BANP_ENST00000393208.2_Silent_p.E218E|BANP_ENST00000355022.4_Silent_p.E218E|BANP_ENST00000479780.2_Silent_p.E218E|BANP_ENST00000286122.7_Silent_p.E249E|BANP_ENST00000355163.5_Silent_p.E224E|BANP_ENST00000538234.1_Silent_p.E257E	p.E249E	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	7	968	+			249			BEN.|Interaction with CUX1 and HDAC1 (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	c.747G>A	CCDS54054.1																																																																																				0.652	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		14	43	0	0	0	1	0	14	43				
CYLC1	1538	broad.mit.edu	37	X	83128055	83128055	+	Silent	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:83128055A>C	ENST00000329312.4	+	4	376	c.339A>C	c.(337-339)gcA>gcC	p.A113A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	113					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTAAAAAAGCAGAATATAAAA	0.368																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(337-339)gcA>gcC		cylicin, basic protein of sperm head cytoskeleton 1							32.0	30.0	31.0					X																	83128055		2197	4292	6489	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128055A>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.339A>C	X.37:g.83128055A>C							p.A113A	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	376	+			113					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.339A>C	CCDS35341.1																																																																																				0.368	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		17	19	0	0	0	1	0	17	19				
KMT2C	58508	broad.mit.edu	37	7	151856051	151856051	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:151856051C>T	ENST00000262189.6	-	44	11785	c.11567G>A	c.(11566-11568)aGg>aAg	p.R3856K	KMT2C_ENST00000355193.2_Missense_Mutation_p.R3856K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3856					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTCACCCGTCCTCTGAGTCCG	0.473																																						ENST00000355193.2																			0											c.(11566-11568)aGg>aAg		lysine (K)-specific methyltransferase 2C							282.0	248.0	260.0					7																	151856051		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151856051C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11567G>A	7.37:g.151856051C>T	ENSP00000262189:p.Arg3856Lys					KMT2C_ENST00000262189.6_Missense_Mutation_p.R3856K	p.R3856K							44	11785	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.11567G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302649	0.60195	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	T;T;D	0.86164	-1.47;-1.43;-2.08	5.56	2.81	0.32909	.	0.000000	0.47852	U	0.000205	T	0.80686	0.4670	L	0.28274	0.84	0.80722	D	1	P;B;B	0.45768	0.866;0.1;0.009	P;B;B	0.49047	0.599;0.047;0.016	T	0.74054	-0.3788	10	0.07175	T	0.84	.	11.0127	0.47671	0.0:0.8082:0.0:0.1918	.	3856;2917;3856	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	K	3856;3856;442	ENSP00000262189:R3856K;ENSP00000347325:R3856K;ENSP00000410411:R442K	ENSP00000262189:R3856K	R	-	2	0	MLL3	151486984	1.000000	0.71417	0.679000	0.29978	0.994000	0.84299	1.696000	0.37773	0.409000	0.25649	0.591000	0.81541	AGG		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			72	165	0	0	0	1	0	72	165				
ABCC1	4363	broad.mit.edu	37	16	16216017	16216017	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:16216017C>T	ENST00000399410.3	+	24	3751	c.3576C>T	c.(3574-3576)agC>agT	p.S1192S	ABCC1_ENST00000351154.5_Silent_p.S1133S|ABCC1_ENST00000349029.5_Silent_p.S1077S|ABCC1_ENST00000345148.5_Silent_p.S1192S|ABCC1_ENST00000346370.5_Silent_p.S1136S|ABCC1_ENST00000399408.2_Silent_p.S1202S	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1192	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ATTACCCCAGCATCGTGGCCA	0.602																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3604-3606)agC>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						47.0	54.0	52.0					16																	16216017		2139	4253	6392	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16216017C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3576C>T	16.37:g.16216017C>T						ABCC1_ENST00000351154.5_Silent_p.S1133S|ABCC1_ENST00000399410.3_Silent_p.S1192S|ABCC1_ENST00000349029.5_Silent_p.S1077S|ABCC1_ENST00000346370.5_Silent_p.S1136S|ABCC1_ENST00000345148.5_Silent_p.S1192S	p.S1202S			P33527	MRP1_HUMAN			25	3781	+			1192			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3606C>T	CCDS42122.1																																																																																				0.602	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		20	38	0	0	0	1	0	20	38				
IREB2	3658	broad.mit.edu	37	15	78768539	78768539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:78768539C>T	ENST00000258886.8	+	9	1182	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	IREB2_ENST00000560440.1_3'UTR	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	345					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GCACCTCAGGCAAGTAGGAGT	0.333																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1033-1035)Caa>Taa		iron-responsive element binding protein 2							87.0	91.0	90.0					15																	78768539		2196	4293	6489	SO:0001587	stop_gained	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78768539C>T	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1033C>T	15.37:g.78768539C>T	ENSP00000258886:p.Gln345*					IREB2_ENST00000560440.1_3'UTR	p.Q345*	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	9	1182	+			345					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Nonsense_Mutation	SNP	ENST00000258886.8	37	c.1033C>T	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	C	38	6.710730	0.97780	.	.	ENSG00000136381	ENST00000258886	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	.	.	.	X	345	.	ENSP00000258886:Q345X	Q	+	1	0	IREB2	76555594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.569000	0.82380	2.596000	0.87737	0.549000	0.68633	CAA		0.333	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		11	105	0	0	0	1	0	11	105				
PTX3	5806	broad.mit.edu	37	3	157160258	157160258	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:157160258G>T	ENST00000295927.3	+	3	781	c.636G>T	c.(634-636)tgG>tgT	p.W212C	VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	212	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCTGCATTTGGGTCAAAGCCA	0.418																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.(634-636)tgG>tgT		pentraxin 3, long							98.0	95.0	96.0					3																	157160258		2203	4300	6503	SO:0001583	missense	5806				inflammatory response	extracellular region		g.chr3:157160258G>T	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.636G>T	3.37:g.157160258G>T	ENSP00000295927:p.Trp212Cys					VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron	p.W212C	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	781	+			212			Pentaxin.		B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	c.636G>T	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297611	0.60086	.	.	ENSG00000163661	ENST00000295927	T	0.70749	-0.51	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90594	0.4539	10	0.66056	D	0.02	-16.0758	19.3998	0.94623	0.0:0.0:1.0:0.0	.	212	P26022	PTX3_HUMAN	C	212	ENSP00000295927:W212C	ENSP00000295927:W212C	W	+	3	0	PTX3	158642952	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	9.091000	0.94151	2.586000	0.87340	0.655000	0.94253	TGG		0.418	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		48	167	1	0	5.34276e-22	1	6.67022e-22	48	167				
COX6A1	1337	broad.mit.edu	37	12	120876252	120876252	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:120876252C>T	ENST00000229379.2	+	2	211	c.174C>T	c.(172-174)taC>taT	p.Y58Y	AL021546.6_ENST00000551806.1_Missense_Mutation_p.P35S	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	58					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAATGTGTACCTGAAGTCGC	0.592																																						ENST00000551806.1																			0											c.(103-105)Cct>Tct									99.0	86.0	90.0					12																	120876252		2203	4297	6500	SO:0001819	synonymous_variant	1337							g.chr12:120876252C>T	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.174C>T	12.37:g.120876252C>T						COX6A1_ENST00000229379.2_Silent_p.Y58Y	p.P35S							2	103	+								B2R500|O43714|Q32Q37	Missense_Mutation	SNP	ENST00000229379.2	37	c.103C>T	CCDS9197.1	.	.	.	.	.	.	.	.	.	.	C	3.472	-0.107692	0.06924	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	T	0.64918	0.2642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63051	-0.6723	4	.	.	.	-9.6385	13.304	0.60342	0.0:0.9237:0.0:0.0763	.	.	.	.	S	35	.	.	P	+	1	0	GATC	119360635	0.979000	0.34478	0.985000	0.45067	0.038000	0.13279	2.157000	0.42320	2.543000	0.85770	0.655000	0.94253	CCT		0.592	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3	NM_004373		23	70	0	0	0	1	0	23	70				
CCKAR	886	broad.mit.edu	37	4	26483384	26483384	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:26483384C>T	ENST00000295589.3	-	5	1357	c.1163G>A	c.(1162-1164)tGc>tAc	p.C388Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	388					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGATTGGGGCAGCAGGGGAA	0.617																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1162-1164)tGc>tAc		cholecystokinin A receptor	Ceruletide(DB00403)						78.0	82.0	81.0					4																	26483384		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483384C>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1163G>A	4.37:g.26483384C>T	ENSP00000295589:p.Cys388Tyr						p.C388Y	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1357	-		Breast(46;0.0503)	388					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.1163G>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863661	0.71949	.	.	ENSG00000163394	ENST00000295589	T	0.38401	1.14	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64470	-0.6400	10	0.46703	T	0.11	.	18.8577	0.92259	0.0:1.0:0.0:0.0	.	388	P32238	CCKAR_HUMAN	Y	388	ENSP00000295589:C388Y	ENSP00000295589:C388Y	C	-	2	0	CCKAR	26092482	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	5.932000	0.70121	2.452000	0.82932	0.563000	0.77884	TGC		0.617	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			23	100	0	0	0	1	0	23	100				
LOC100420587	100420587	broad.mit.edu	37	19	29215132	29215132	+	lincRNA	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:29215132A>G	ENST00000592347.1	-	0	409																											CCTTGAGCACATCATGTGCCA	0.453																																						ENST00000592347.1																			0																																																			100420587							g.chr19:29215132A>G																													19.37:g.29215132A>G														0	409	-									RNA	SNP	ENST00000592347.1	37																																																																																						0.453	AC005307.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453069.1			17	20	0	0	0	1	0	17	20				
NLRP5	126206	broad.mit.edu	37	19	56549546	56549546	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:56549546C>A	ENST00000390649.3	+	10	2771	c.2771C>A	c.(2770-2772)gCc>gAc	p.A924D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	924					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCAGTGCGCCCTGCAGAAG	0.537																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2770-2772)gCc>gAc		NLR family, pyrin domain containing 5							130.0	131.0	131.0					19																	56549546		2118	4243	6361	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56549546C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2771C>A	19.37:g.56549546C>A	ENSP00000375063:p.Ala924Asp						p.A924D	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	10	2771	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	924					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2771C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	7.311	0.615089	0.14129	.	.	ENSG00000171487	ENST00000390649	T	0.53206	0.63	3.66	-0.194	0.13240	.	1.574090	0.04506	N	0.382013	T	0.38904	0.1058	L	0.34521	1.04	0.09310	N	1	B	0.31910	0.346	B	0.40329	0.326	T	0.30504	-0.9976	10	0.35671	T	0.21	.	1.3333	0.02139	0.3529:0.351:0.1693:0.1267	.	924	P59047	NALP5_HUMAN	D	924	ENSP00000375063:A924D	ENSP00000375063:A924D	A	+	2	0	NLRP5	61241358	0.002000	0.14202	0.001000	0.08648	0.045000	0.14185	1.125000	0.31332	-0.083000	0.12618	-0.136000	0.14681	GCC		0.537	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		26	57	1	0	3.1745e-13	1	3.64857e-13	26	57				
MYH4	4622	broad.mit.edu	37	17	10346788	10346788	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:10346788C>T	ENST00000255381.2	-	40	5834	c.5724G>A	c.(5722-5724)gaG>gaA	p.E1908E	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTGGCCTCCTCCAGCTCGT	0.468																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5722-5724)gaG>gaA		myosin, heavy chain 4, skeletal muscle							129.0	118.0	122.0					17																	10346788		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10346788C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5724G>A	17.37:g.10346788C>T						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1908E	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			40	5834	-			1908						Silent	SNP	ENST00000255381.2	37	c.5724G>A	CCDS11154.1																																																																																				0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		54	173	0	0	0	1	0	54	173				
IGLL1	3543	broad.mit.edu	37	22	23915609	23915609	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:23915609C>T	ENST00000330377.2	-	3	603	c.486G>A	c.(484-486)atG>atA	p.M162I	AP000345.2_ENST00000458318.1_RNA|AP000345.2_ENST00000454863.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	162	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						AGGGCGTGGTCATCTCCACGC	0.582																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(484-486)atG>atA		immunoglobulin lambda-like polypeptide 1							125.0	111.0	116.0					22																	23915609		2203	4300	6503	SO:0001583	missense	3543				immune response	extracellular region|membrane		g.chr22:23915609C>T	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.486G>A	22.37:g.23915609C>T	ENSP00000329312:p.Met162Ile					IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	p.M162I	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			3	603	-			162			C region (By similarity to lambda light- chain).|Ig-like C1-type.		Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	c.486G>A	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	2.599	-0.293531	0.05568	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.02737	4.18;4.18	2.45	1.37	0.22104	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.338611	0.25047	N	0.033550	T	0.01353	0.0044	N	0.01668	-0.77	0.09310	N	0.999992	B	0.02656	0.0	B	0.08055	0.003	T	0.46898	-0.9158	10	0.54805	T	0.06	.	11.2717	0.49142	0.0:0.2091:0.7909:0.0	.	162	P15814	IGLL1_HUMAN	I	162;163	ENSP00000329312:M162I;ENSP00000403391:M163I	ENSP00000329312:M162I	M	-	3	0	IGLL1	22245609	0.981000	0.34729	0.007000	0.13788	0.002000	0.02628	1.657000	0.37366	-0.029000	0.13827	-1.905000	0.00526	ATG		0.582	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		24	98	0	0	0	1	0	24	98				
HPCAL1	3241	broad.mit.edu	37	2	10559942	10559942	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:10559942C>T	ENST00000381765.3	+	4	585	c.59C>T	c.(58-60)aCg>aTg	p.T20M	HPCAL1_ENST00000307845.3_Missense_Mutation_p.T20M	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	20					signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CGGGAGAACACGGAGTTCACC	0.637																																					Pancreas(70;1384 1800 31595 46836)	ENST00000381765.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9						c.(58-60)aCg>aTg		hippocalcin-like 1							64.0	59.0	60.0					2																	10559942		2203	4300	6503	SO:0001583	missense	3241						calcium ion binding	g.chr2:10559942C>T		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.59C>T	2.37:g.10559942C>T	ENSP00000371184:p.Thr20Met					HPCAL1_ENST00000307845.3_Missense_Mutation_p.T20M	p.T20M	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	4	585	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		20					Q969S5	Missense_Mutation	SNP	ENST00000381765.3	37	c.59C>T	CCDS1671.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459167	0.84317	.	.	ENSG00000115756	ENST00000423674;ENST00000307845;ENST00000381765	T;T;T	0.71222	-0.55;1.16;1.16	5.28	4.4	0.53042	EF-hand-like domain (1);	0.046134	0.85682	D	0.000000	D	0.87637	0.6227	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90911	0.4776	10	0.87932	D	0	.	16.1428	0.81539	0.0:0.8666:0.1333:0.0	.	20	P37235	HPCL1_HUMAN	M	20	ENSP00000413689:T20M;ENSP00000310749:T20M;ENSP00000371184:T20M	ENSP00000310749:T20M	T	+	2	0	HPCAL1	10477393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.028000	0.70889	1.195000	0.43115	0.561000	0.74099	ACG		0.637	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		24	62	0	0	0	1	0	24	62				
IGHV1-18	28468	broad.mit.edu	37	14	106641567	106641567	+	RNA	SNP	G	G	T	rs370195764	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:106641567G>T	ENST00000390605.2	-	0	405									immunoglobulin heavy variable 1-18																		TGTGTCTCTCGCACAGTAATA	0.532																																						ENST00000390605.2																			0																				173.0	166.0	168.0					14																	106641567		2069	4185	6254			28468							g.chr14:106641567G>T	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641567G>T														0	405	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.532	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		27	237	1	0	1.22384e-17	1	1.46187e-17	27	237				
KPRP	448834	broad.mit.edu	37	1	152732150	152732150	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:152732150C>T	ENST00000606109.1	+	1	114	c.86C>T	c.(85-87)cCc>cTc	p.P29L	KPRP_ENST00000368773.1_Missense_Mutation_p.P29L			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	29	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCAATCCCCCTTTGCCCAG	0.582																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(85-87)cCc>cTc		keratinocyte proline-rich protein							122.0	120.0	121.0					1																	152732150		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732150C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.86C>T	1.37:g.152732150C>T	ENSP00000475216:p.Pro29Leu					KPRP_ENST00000606109.1_Missense_Mutation_p.P29L	p.P29L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	144	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.86C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	7.382	0.628994	0.14257	.	.	ENSG00000203786	ENST00000368773	T	0.13778	2.56	5.26	2.4	0.29515	.	0.451045	0.19115	N	0.122331	T	0.05273	0.0140	L	0.60455	1.87	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.28427	-1.0044	10	0.87932	D	0	-2.7757	6.6995	0.23217	0.0:0.7193:0.0:0.2807	.	29	Q5T749	KPRP_HUMAN	L	29	ENSP00000357762:P29L	ENSP00000357762:P29L	P	+	2	0	KPRP	150998774	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	0.186000	0.16978	0.923000	0.37045	0.655000	0.94253	CCC		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		20	146	0	0	0	1	0	20	146				
COBL	23242	broad.mit.edu	37	7	51095532	51095532	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:51095532G>C	ENST00000265136.7	-	10	3426	c.3261C>G	c.(3259-3261)agC>agG	p.S1087R	COBL_ENST00000395542.2_Missense_Mutation_p.S1169R	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1087					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCCAAAAATGCTGGGTGGCC	0.493																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3505-3507)agC>agG		cordon-bleu WH2 repeat protein							173.0	161.0	165.0					7																	51095532		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095532G>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3261C>G	7.37:g.51095532G>C	ENSP00000265136:p.Ser1087Arg					COBL_ENST00000265136.7_Missense_Mutation_p.S1087R	p.S1169R			O75128	COBL_HUMAN			12	3691	-	Glioma(55;0.08)		1087			WH2 2.		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3507C>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308849	0.23821	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.14766	2.49;2.49;2.49;2.48	5.41	2.56	0.30785	.	0.394839	0.21967	N	0.066509	T	0.22322	0.0538	L	0.34521	1.04	0.09310	N	0.999994	D;D;D;D;D	0.89917	0.993;0.996;0.999;0.998;1.0	P;D;D;D;D	0.83275	0.9;0.944;0.946;0.962;0.996	T	0.03651	-1.1016	10	0.87932	D	0	.	7.4747	0.27369	0.2862:0.1164:0.5974:0.0	.	1087;1144;1087;1169;629	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	R	1087;979;972;1169	ENSP00000265136:S1087R;ENSP00000401204:S979R;ENSP00000413498:S972R;ENSP00000378912:S1169R	ENSP00000265136:S1087R	S	-	3	2	COBL	51063026	0.997000	0.39634	0.973000	0.42090	0.143000	0.21401	1.704000	0.37857	0.266000	0.21894	-1.119000	0.02030	AGC		0.493	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		58	136	0	0	0	1	0	58	136				
CYP26C1	340665	broad.mit.edu	37	10	94826034	94826034	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:94826034G>A	ENST00000285949.5	+	5	1183	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	395					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGCACCTTCGAGCTCGACGT	0.756																																						ENST00000285949.5																			0				central_nervous_system(1)|lung(3)|ovary(1)	5						c.(1183-1185)Gag>Aag		cytochrome P450, family 26, subfamily C, polypeptide 1							8.0	8.0	8.0					10																	94826034		1786	3544	5330	SO:0001583	missense	340665				anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94826034G>A		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.1183G>A	10.37:g.94826034G>A	ENSP00000285949:p.Glu395Lys						p.E395K	NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN			5	1183	+		Colorectal(252;0.122)	395					Q5VXH6	Missense_Mutation	SNP	ENST00000285949.5	37	c.1183G>A	CCDS7425.1	.	.	.	.	.	.	.	.	.	.	G	37	6.166954	0.97343	.	.	ENSG00000187553	ENST00000285949	T	0.68025	-0.3	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76307	0.3969	L	0.39147	1.195	0.58432	D	0.999999	D	0.76494	0.999	D	0.71870	0.975	T	0.77384	-0.2608	10	0.54805	T	0.06	-14.1258	18.9304	0.92563	0.0:0.0:1.0:0.0	.	395	Q6V0L0	CP26C_HUMAN	K	395	ENSP00000285949:E395K	ENSP00000285949:E395K	E	+	1	0	CYP26C1	94816024	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.705000	0.98719	2.454000	0.82982	0.485000	0.47835	GAG		0.756	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		7	16	0	0	0	1	0	7	16				
TTN	7273	broad.mit.edu	37	2	179615427	179615427	+	Intron	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:179615427T>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Silent_p.I3900I			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCTTTTTTATTCTTTCAC	0.338																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11698-11700)atA>atT		titin							64.0	65.0	65.0					2																	179615427		2202	4295	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615427T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2423A>T	2.37:g.179615427T>A						TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	p.I3900I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11922	-			9723					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.11700A>T																																																																																					0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	106	0	0	0	1	0	4	106				
MVD	4597	broad.mit.edu	37	16	88721197	88721197	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:88721197C>T	ENST00000301012.3	-	8	945	c.916G>A	c.(916-918)Gcg>Acg	p.A306T	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	306					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGGGGCCCGCGTCAAAGGTG	0.622																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(916-918)Gcg>Acg		mevalonate (diphospho) decarboxylase							90.0	75.0	80.0					16																	88721197		2198	4300	6498	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88721197C>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.916G>A	16.37:g.88721197C>T	ENSP00000301012:p.Ala306Thr						p.A306T	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	8	945	-			306					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.916G>A	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536600	0.85812	.	.	ENSG00000167508	ENST00000301012	T	0.59906	0.23	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.83635	0.5297	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89810	0.3981	10	0.87932	D	0	-13.1754	17.291	0.87156	0.0:1.0:0.0:0.0	.	306	P53602	MVD1_HUMAN	T	306	ENSP00000301012:A306T	ENSP00000301012:A306T	A	-	1	0	MVD	87248698	1.000000	0.71417	0.868000	0.34077	0.674000	0.39518	5.414000	0.66405	2.156000	0.67533	0.491000	0.48974	GCG		0.622	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		16	42	0	0	0	1	0	16	42				
FSCB	84075	broad.mit.edu	37	14	44973941	44973941	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:44973941C>T	ENST00000340446.4	-	1	2541	c.2250G>A	c.(2248-2250)gaG>gaA	p.E750E	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	750						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTACCAGAGCCTCATCTTCAG	0.468																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2248-2250)gaG>gaA		fibrous sheath CABYR binding protein							59.0	63.0	62.0					14																	44973941		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44973941C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2250G>A	14.37:g.44973941C>T							p.E750E	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2541	-			750					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.2250G>A	CCDS9679.1																																																																																				0.468	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		33	52	0	0	0	1	0	33	52				
KIAA1755	85449	broad.mit.edu	37	20	36855589	36855589	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:36855589C>T	ENST00000279024.4	-	7	2290	c.2019G>A	c.(2017-2019)gcG>gcA	p.A673A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	673								p.A673A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTGGAGAGCCGCCTCCTTCT	0.592																																						ENST00000279024.4																			1	Substitution - coding silent(1)	p.A673A(1)	endometrium(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(2017-2019)gcG>gcA		KIAA1755							47.0	44.0	45.0					20																	36855589		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36855589C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2019G>A	20.37:g.36855589C>T							p.A673A	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			7	2290	-		Myeloproliferative disorder(115;0.00874)	673					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.2019G>A	CCDS33467.1																																																																																				0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		5	52	0	0	0	1	0	5	52				
SDHA	6389	broad.mit.edu	37	5	256470	256470	+	Missense_Mutation	SNP	G	G	A	rs3211483		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000510361.1_Missense_Mutation_p.V596M|SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1930-1932)Gtg>Atg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						91.0	104.0	99.0					5																	256470		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:256470G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1930G>A	5.37:g.256470G>A	ENSP00000264932:p.Val644Met					SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.V596M	p.V644M	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		15	2045	+			644					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1930G>A	CCDS3853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	15.71|15.71	2.915077|2.915077	0.52546|0.52546	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000515815|ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	.|D;D;D	.|0.84730	.|-1.89;-1.89;-1.89	4.12|4.12	4.12|4.12	0.48240|0.48240	.|Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000002	D|D	0.94056|0.94056	0.8095|0.8095	H|H	0.94582|0.94582	3.555|3.555	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.997;0.993;0.997	D|D	0.95511|0.95511	0.8586|0.8586	5|10	.|0.87932	.|D	.|0	.|.	13.8591|13.8591	0.63548|0.63548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs3211483;rs17415232|rs3211483;rs17415232	.|596;238;563;644	.|E9PBJ5;B3KYA5;D6RFM5;P31040	.|.;.;.;DHSA_HUMAN	H|M	126|644;499;563;596	.|ENSP00000264932:V644M;ENSP00000426514:V563M;ENSP00000427703:V596M	.|ENSP00000264932:V644M	R|V	+|+	2|1	0|0	SDHA|SDHA	309470|309470	1.000000|1.000000	0.71417|0.71417	0.642000|0.642000	0.29436|0.29436	0.242000|0.242000	0.25591|0.25591	8.735000|8.735000	0.91549|0.91549	1.861000|1.861000	0.53984|0.53984	0.305000|0.305000	0.20034|0.20034	CGT|GTG		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	165	0	0	0	1	0	4	165				
LAMA2	3908	broad.mit.edu	37	6	129591784	129591784	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:129591784A>T	ENST00000421865.2	+	17	2387	c.2338A>T	c.(2338-2340)Aca>Tca	p.T780S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	780	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TAAGGATCACACAGGTGGCCC	0.418																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2338-2340)Aca>Tca		laminin, alpha 2							142.0	135.0	137.0					6																	129591784		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129591784A>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2338A>T	6.37:g.129591784A>T	ENSP00000400365:p.Thr780Ser						p.T780S	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	17	2387	+			780			Laminin EGF-like 6.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2338A>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656298	0.88056	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.64438	-0.1	5.77	5.77	0.91146	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	M	0.88570	2.965	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.968	D	0.83423	0.0034	10	0.66056	D	0.02	.	16.0768	0.80974	1.0:0.0:0.0:0.0	.	780;780	A6NF00;P24043	.;LAMA2_HUMAN	S	780	ENSP00000400365:T780S	ENSP00000346769:T780S	T	+	1	0	LAMA2	129633477	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.687000	0.91255	2.203000	0.70933	0.482000	0.46254	ACA		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			23	130	0	0	0	1	0	23	130				
KCNJ14	3770	broad.mit.edu	37	19	48967822	48967822	+	Missense_Mutation	SNP	G	G	A	rs557935092		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:48967822G>A	ENST00000391884.1	+	2	1575	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.6_ENST00000597574.1_lincRNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.D367N|CTC-273B12.5_ENST00000593476.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	367					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TAAGGAGCTGGATGAACGGGC	0.547																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(1099-1101)Gat>Aat		potassium inwardly-rectifying channel, subfamily J, member 14							67.0	64.0	65.0					19																	48967822		2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48967822G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1099G>A	19.37:g.48967822G>A	ENSP00000375756:p.Asp367Asn					KCNJ14_ENST00000342291.2_Missense_Mutation_p.D367N	p.D367N			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	2	1575	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	367						Missense_Mutation	SNP	ENST00000391884.1	37	c.1099G>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006868	0.35415	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.91792	-2.91;-2.91	5.24	5.24	0.73138	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.331986	0.31358	N	0.007785	D	0.86272	0.5893	L	0.32530	0.975	0.31606	N	0.652081	B	0.18741	0.03	B	0.21708	0.036	T	0.79754	-0.1670	10	0.17369	T	0.5	.	12.0958	0.53755	0.0:0.0:0.8279:0.1721	.	367	Q9UNX9	IRK14_HUMAN	N	367	ENSP00000341479:D367N;ENSP00000375756:D367N	ENSP00000341479:D367N	D	+	1	0	KCNJ14	53659634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.138000	0.50570	2.837000	0.97791	0.655000	0.94253	GAT		0.547	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		21	36	0	0	0	1	0	21	36				
ZBTB16	7704	broad.mit.edu	37	11	114117978	114117978	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:114117978C>A	ENST00000335953.4	+	6	2063	c.1683C>A	c.(1681-1683)ctC>ctA	p.L561L	ZBTB16_ENST00000392996.2_Silent_p.L561L|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	561					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGAGCACACTCAAGAGCCACA	0.577																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1681-1683)ctC>ctA		zinc finger and BTB domain containing 16							91.0	75.0	80.0					11																	114117978		2201	4296	6497	SO:0001819	synonymous_variant	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114117978C>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1683C>A	11.37:g.114117978C>A						RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Silent_p.L561L	p.L561L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	6	2063	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	561					Q8TAL4	Silent	SNP	ENST00000335953.4	37	c.1683C>A	CCDS8367.1																																																																																				0.577	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		29	30	1	0	1.16021e-09	1	1.2756e-09	29	30				
TRPC5	7224	broad.mit.edu	37	X	111155686	111155686	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:111155686A>G	ENST00000262839.2	-	3	1651	c.733T>C	c.(733-735)Tct>Cct	p.S245P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	245					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACTGCTGAGAGAGCTCCTCA	0.547																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(733-735)Tct>Cct		transient receptor potential cation channel, subfamily C, member 5							179.0	162.0	168.0					X																	111155686		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111155686A>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.733T>C	X.37:g.111155686A>G	ENSP00000262839:p.Ser245Pro						p.S245P	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			3	1651	-			245					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.733T>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551928	0.86127	.	.	ENSG00000072315	ENST00000262839	T	0.63913	-0.07	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.987;0.99	D	0.84959	0.0876	10	0.54805	T	0.06	-7.6743	15.4762	0.75481	1.0:0.0:0.0:0.0	.	246;245	Q59G51;Q9UL62	.;TRPC5_HUMAN	P	245	ENSP00000262839:S245P	ENSP00000262839:S245P	S	-	1	0	TRPC5	111042342	1.000000	0.71417	0.983000	0.44433	0.976000	0.68499	9.339000	0.96797	2.039000	0.60335	0.417000	0.27973	TCT		0.547	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		99	124	0	0	0	1	0	99	124				
EYS	346007	broad.mit.edu	37	6	66204963	66204963	+	Missense_Mutation	SNP	C	C	A	rs533909681		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:66204963C>A	ENST00000370621.3	-	4	867	c.341G>T	c.(340-342)tGt>tTt	p.C114F	EYS_ENST00000342421.5_Missense_Mutation_p.C114F|EYS_ENST00000503581.1_Missense_Mutation_p.C114F|EYS_ENST00000393380.2_Missense_Mutation_p.C114F|EYS_ENST00000370616.2_Missense_Mutation_p.C114F|EYS_ENST00000370618.3_Missense_Mutation_p.C114F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	114					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTTTGCACACAGCCAACGAA	0.358																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(340-342)tGt>tTt		eyes shut homolog (Drosophila)							75.0	72.0	73.0					6																	66204963		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204963C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.341G>T	6.37:g.66204963C>A	ENSP00000359655:p.Cys114Phe					EYS_ENST00000342421.5_Missense_Mutation_p.C114F|EYS_ENST00000370621.3_Missense_Mutation_p.C114F|EYS_ENST00000370618.3_Missense_Mutation_p.C114F|EYS_ENST00000370616.2_Missense_Mutation_p.C114F|EYS_ENST00000393380.2_Missense_Mutation_p.C114F	p.C114F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	878	-			114					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.341G>T		.	.	.	.	.	.	.	.	.	.	C	16.65	3.182783	0.57800	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.93247	-3.19;-3.17;-3.17;-2.79;-2.74;-2.74	4.64	3.77	0.43336	.	.	.	.	.	D	0.90222	0.6943	N	0.24115	0.695	0.29077	N	0.882949	D;D;D	0.76494	0.993;0.998;0.999	D;D;D	0.70716	0.933;0.97;0.954	D	0.85262	0.1051	9	0.87932	D	0	.	10.2989	0.43639	0.0:0.9055:0.0:0.0945	.	114;114;114	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	F	114	ENSP00000424243:C114F;ENSP00000359655:C114F;ENSP00000359650:C114F;ENSP00000377042:C114F;ENSP00000341818:C114F;ENSP00000359652:C114F	ENSP00000341818:C114F	C	-	2	0	EYS	66261684	1.000000	0.71417	0.929000	0.37066	0.892000	0.51952	2.688000	0.46984	1.059000	0.40554	0.591000	0.81541	TGT		0.358	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		25	74	1	0	1.36565e-18	1	1.64418e-18	25	74				
DAGLB	221955	broad.mit.edu	37	7	6474645	6474645	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:6474645G>A	ENST00000297056.6	-	4	595	c.426C>T	c.(424-426)atC>atT	p.I142I	DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Silent_p.I101I|DAGLB_ENST00000428902.2_Silent_p.I15I|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000421761.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	142					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAGCGATGATGATCCAACTGC	0.567																																						ENST00000297056.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(424-426)atC>atT		diacylglycerol lipase, beta							61.0	62.0	62.0					7																	6474645		2203	4300	6503	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6474645G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.426C>T	7.37:g.6474645G>A						DAGLB_ENST00000436575.1_Silent_p.I101I|DAGLB_ENST00000428902.2_Silent_p.I15I|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron	p.I142I	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	4	595	-		Ovarian(82;0.232)	142					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	37	c.426C>T	CCDS5350.1																																																																																				0.567	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		21	80	0	0	0	1	0	21	80				
PTPRN2	5799	broad.mit.edu	37	7	157414145	157414145	+	Silent	SNP	C	C	T	rs199567899		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:157414145C>T	ENST00000389418.4	-	15	2262	c.2253G>A	c.(2251-2253)gcG>gcA	p.A751A	PTPRN2_ENST00000404321.2_Silent_p.A774A|PTPRN2_ENST00000389413.3_Silent_p.A722A|PTPRN2_ENST00000409483.1_Silent_p.A713A|PTPRN2_ENST00000389416.4_Silent_p.A734A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	751	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGCGCACAGCGCTTCCCACT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19476	0.0		0.001	False		,,,				2504	0.0					ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(2164-2166)gcG>gcA		protein tyrosine phosphatase, receptor type, N polypeptide 2							200.0	184.0	189.0					7																	157414145		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157414145C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2253G>A	7.37:g.157414145C>T						PTPRN2_ENST00000389416.4_Silent_p.A734A|PTPRN2_ENST00000389418.4_Silent_p.A751A|PTPRN2_ENST00000409483.1_Silent_p.A713A|PTPRN2_ENST00000404321.2_Silent_p.A774A	p.A722A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	14	2269	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	751					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.2166G>A	CCDS5947.1																																																																																				0.617	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			7	318	0	0	0	1	0	7	318				
HTR4	3360	broad.mit.edu	37	5	147845449	147845449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:147845449G>T	ENST00000314512.6	-	7	1279	c.1116C>A	c.(1114-1116)tgC>tgA	p.C372*	HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521735.1_Nonsense_Mutation_p.C372*	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0			C -> Y (in dbSNP:rs34826744).		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CTGGTCTATTGCAGAAGAGCA	0.438																																					GBM(120;370 1604 14007 17804 41573)	ENST00000314512.6																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1114-1116)tgC>tgA		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						147.0	158.0	154.0					5																	147845449		2203	4300	6503	SO:0001587	stop_gained	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147845449G>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000314512.6:c.1116C>A	5.37:g.147845449G>T	ENSP00000314906:p.Cys372*					HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Nonsense_Mutation_p.C372*|HTR4_ENST00000354217.2_Intron	p.C372*	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1279	-			0		C -> Y (in dbSNP:rs34826744).			C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Nonsense_Mutation	SNP	ENST00000314512.6	37	c.1116C>A	CCDS34271.1	.	.	.	.	.	.	.	.	.	.	G	37	6.149743	0.97324	.	.	ENSG00000164270	ENST00000314512;ENST00000521735	.	.	.	5.28	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.1663	0.54131	0.0864:0.0:0.9136:0.0	.	.	.	.	X	372	.	ENSP00000314906:C372X	C	-	3	2	HTR4	147825642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.661000	0.61518	2.452000	0.82932	0.563000	0.77884	TGC		0.438	HTR4-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374235.1	NM_000870		35	80	1	0	6.50621e-10	1	7.19232e-10	35	80				
SCN2A	6326	broad.mit.edu	37	2	166201420	166201420	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:166201420T>C	ENST00000375437.2	+	16	3208	c.2918T>C	c.(2917-2919)gTg>gCg	p.V973A	SCN2A_ENST00000375427.2_Splice_Site_p.V973A|SCN2A_ENST00000283256.6_Splice_Site_p.V973A|SCN2A_ENST00000357398.3_Splice_Site_p.V973A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	973					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAAATCTAGTGGTATGTAGC	0.363																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.e16+1		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						175.0	150.0	158.0					2																	166201420		2203	4300	6503	SO:0001630	splice_region_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166201420T>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2919+1T>C	2.37:g.166201420T>C						SCN2A_ENST00000375437.2_Splice_Site_p.V973_splice|SCN2A_ENST00000283256.6_Splice_Site_p.V973_splice|SCN2A_ENST00000375427.2_Splice_Site_p.V973_splice	p.V973_splice			Q99250	SCN2A_HUMAN			16	3208	+			973					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Splice_Site	SNP	ENST00000375437.2	37	c.2919_splice	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.625243	0.87560	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.56097	D	0.000032	D	0.98855	0.9613	M	0.80422	2.495	0.80722	D	1	P;B	0.47604	0.898;0.139	P;B	0.57101	0.813;0.423	D	0.99655	1.0992	10	0.87932	D	0	.	15.4924	0.75619	0.0:0.0:0.0:1.0	.	973;973	Q99250-2;Q99250	.;SCN2A_HUMAN	A	973	ENSP00000364586:V973A;ENSP00000349973:V973A;ENSP00000283256:V973A;ENSP00000364576:V973A	ENSP00000283256:V973A	V	+	2	0	SCN2A	165909666	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	7.918000	0.87506	2.057000	0.61298	0.528000	0.53228	GTG		0.363	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	Missense_Mutation	32	138	0	0	0	1	0	32	138				
CAPS2	84698	broad.mit.edu	37	12	75672699	75672699	+	Intron	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:75672699T>A	ENST00000409445.3	-	18	1866				CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000393284.3_Missense_Mutation_p.N374Y|CAPS2_ENST00000442339.2_Missense_Mutation_p.N196Y|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2								calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CGTAAGATGTTAACAAAGTCT	0.333																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(1120-1122)Aac>Tac		calcyphosine 2							110.0	102.0	105.0					12																	75672699		2202	4296	6498	SO:0001627	intron_variant	84698						calcium ion binding	g.chr12:75672699T>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1670-2672A>T	12.37:g.75672699T>A						RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Missense_Mutation_p.N196Y|CAPS2_ENST00000409445.3_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron	p.N374Y			Q9BXY5	CAYP2_HUMAN			17	1721	-			0					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.1120A>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656130	0.47467	.	.	ENSG00000180881	ENST00000393284;ENST00000442339	T;T	0.24538	1.85;1.91	5.9	4.74	0.60224	.	0.000000	0.52532	U	0.000069	T	0.38214	0.1032	.	.	.	0.42623	D	0.993355	B;P	0.41214	0.396;0.742	B;P	0.49276	0.212;0.605	T	0.16041	-1.0416	9	0.52906	T	0.07	.	13.3064	0.60355	0.0:0.0:0.1322:0.8678	.	196;374	A2RRN2;Q9BXY5-2	.;.	Y	374;196	ENSP00000376963:N374Y;ENSP00000389633:N196Y	ENSP00000376963:N374Y	N	-	1	0	CAPS2	73958966	1.000000	0.71417	0.293000	0.24932	0.194000	0.23727	4.053000	0.57427	1.040000	0.40099	0.482000	0.46254	AAC		0.333	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			21	63	0	0	0	1	0	21	63				
CAPS2	84698	broad.mit.edu	37	12	75672777	75672777	+	Intron	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:75672777C>A	ENST00000409445.3	-	18	1866				CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000393284.3_Missense_Mutation_p.D348Y|CAPS2_ENST00000442339.2_Missense_Mutation_p.D170Y|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2								calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GACACTTCATCAGACTTGCTG	0.348																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(1042-1044)Gat>Tat		calcyphosine 2							115.0	113.0	114.0					12																	75672777		2202	4295	6497	SO:0001627	intron_variant	84698						calcium ion binding	g.chr12:75672777C>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1670-2750G>T	12.37:g.75672777C>A						RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Missense_Mutation_p.D170Y|CAPS2_ENST00000409445.3_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron	p.D348Y			Q9BXY5	CAYP2_HUMAN			17	1643	-			0					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.1042G>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348049	0.61183	.	.	ENSG00000180881	ENST00000393284;ENST00000442339	T;T	0.24538	1.86;1.85	5.9	3.99	0.46301	.	0.677789	0.11696	U	0.538446	T	0.28699	0.0711	.	.	.	0.27583	N	0.949537	P;P	0.47604	0.836;0.898	P;P	0.49140	0.497;0.601	T	0.14952	-1.0454	9	0.59425	D	0.04	.	5.6625	0.17676	0.0:0.5963:0.1868:0.2169	.	170;348	A2RRN2;Q9BXY5-2	.;.	Y	348;170	ENSP00000376963:D348Y;ENSP00000389633:D170Y	ENSP00000376963:D348Y	D	-	1	0	CAPS2	73959044	0.640000	0.27243	0.995000	0.50966	0.963000	0.63663	0.847000	0.27696	2.793000	0.96121	0.591000	0.81541	GAT		0.348	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			32	120	1	0	3.90053e-15	1	4.54314e-15	32	120				
TULP4	56995	broad.mit.edu	37	6	158870040	158870040	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:158870040A>C	ENST00000367097.3	+	4	1913	c.556A>C	c.(556-558)Acg>Ccg	p.T186P	TULP4_ENST00000367094.2_Missense_Mutation_p.T186P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	186					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCTGTTTGGCACGGCCGATGG	0.567																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(556-558)Acg>Ccg		tubby like protein 4							103.0	80.0	88.0					6																	158870040		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158870040A>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.556A>C	6.37:g.158870040A>C	ENSP00000356064:p.Thr186Pro					TULP4_ENST00000367094.2_Missense_Mutation_p.T186P	p.T186P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	4	1913	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	186					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.556A>C	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801035	0.90538	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.18657	2.2;2.2	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.85945	2.785	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.991;0.994;0.997	T	0.50783	-0.8787	10	0.59425	D	0.04	-18.7255	15.2277	0.73364	1.0:0.0:0.0:0.0	.	186;186;186	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	P	186	ENSP00000356064:T186P;ENSP00000356061:T186P	ENSP00000356061:T186P	T	+	1	0	TULP4	158790028	1.000000	0.71417	0.975000	0.42487	0.885000	0.51271	9.222000	0.95196	2.010000	0.58986	0.460000	0.39030	ACG		0.567	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		14	34	0	0	0	1	0	14	34				
PLEKHH2	130271	broad.mit.edu	37	2	43927359	43927359	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:43927359A>T	ENST00000282406.4	+	8	1372	c.1262A>T	c.(1261-1263)aAc>aTc	p.N421I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	421					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGCATCCTAACTCACTCTCT	0.428																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1261-1263)aAc>aTc		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							111.0	104.0	106.0					2																	43927359		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43927359A>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1262A>T	2.37:g.43927359A>T	ENSP00000282406:p.Asn421Ile						p.N421I	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			8	1372	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	421					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.1262A>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	8.292	0.817987	0.16607	.	.	ENSG00000152527	ENST00000282406	T	0.73152	-0.72	5.59	1.23	0.21249	.	0.407003	0.27773	N	0.017910	T	0.51601	0.1684	L	0.29908	0.895	0.09310	N	1	B;B	0.17667	0.0;0.023	B;B	0.19946	0.001;0.027	T	0.38112	-0.9676	10	0.44086	T	0.13	-9.5754	3.734	0.08503	0.4761:0.3282:0.0768:0.1189	.	421;421	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	I	421	ENSP00000282406:N421I	ENSP00000282406:N421I	N	+	2	0	PLEKHH2	43780863	0.000000	0.05858	0.597000	0.28824	0.658000	0.38924	-0.017000	0.12590	0.346000	0.23899	0.460000	0.39030	AAC		0.428	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		61	120	0	0	0	1	0	61	120				
KBTBD8	84541	broad.mit.edu	37	3	67058726	67058726	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:67058726C>A	ENST00000417314.2	+	4	1772	c.1723C>A	c.(1723-1725)Cca>Aca	p.P575T	KBTBD8_ENST00000460576.1_Missense_Mutation_p.P133T|KBTBD8_ENST00000295568.4_Missense_Mutation_p.P549T			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	575						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTATGAGACCCCAGATCGGCT	0.443																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1645-1647)Cca>Aca		kelch repeat and BTB (POZ) domain containing 8							78.0	78.0	78.0					3																	67058726		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058726C>A	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1723C>A	3.37:g.67058726C>A	ENSP00000401878:p.Pro575Thr					KBTBD8_ENST00000417314.2_Missense_Mutation_p.P575T|KBTBD8_ENST00000460576.1_Missense_Mutation_p.P133T	p.P549T	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1776	+		Lung NSC(201;0.0765)	575					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1645C>A	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977967	0.74360	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.70749	-0.51;-0.51;-0.51	5.37	5.37	0.77165	Kelch-type beta propeller (1);	0.050510	0.85682	D	0.000000	T	0.75064	0.3799	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.80764	0.744;0.994	T	0.71679	-0.4520	10	0.23302	T	0.38	.	19.1113	0.93317	0.0:1.0:0.0:0.0	.	133;575	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	T	549;133;575	ENSP00000295568:P549T;ENSP00000419738:P133T;ENSP00000401878:P575T	ENSP00000295568:P549T	P	+	1	0	KBTBD8	67141416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.787000	0.85759	2.523000	0.85059	0.650000	0.86243	CCA		0.443	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		55	91	1	0	4.70178e-45	1	6.08231e-45	55	91				
TMED5	50999	broad.mit.edu	37	1	93621932	93621932	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:93621932C>G	ENST00000370282.3	-	3	881	c.396G>C	c.(394-396)caG>caC	p.Q132H	TMED5_ENST00000479918.1_Missense_Mutation_p.Q132H|TMED5_ENST00000370280.1_Missense_Mutation_p.Q132H|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	132					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		GTTCTTGTGCCTGTTCTCCCA	0.353																																						ENST00000370282.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(394-396)caG>caC		transmembrane emp24 protein transport domain containing 5							189.0	177.0	181.0					1																	93621932		2203	4300	6503	SO:0001583	missense	50999				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr1:93621932C>G	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.396G>C	1.37:g.93621932C>G	ENSP00000359305:p.Gln132His					TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000479918.1_Missense_Mutation_p.Q132H|TMED5_ENST00000370280.1_Missense_Mutation_p.Q132H	p.Q132H	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)	3	881	-		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)	132					B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	c.396G>C	CCDS743.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915978	0.52546	.	.	ENSG00000117500	ENST00000370282;ENST00000479918;ENST00000535517;ENST00000370280	T;T;T	0.16743	2.32;2.32;2.32	5.48	-2.39	0.06602	GOLD (2);	0.265355	0.41097	N	0.000947	T	0.04815	0.0130	L	0.34521	1.04	0.24994	N	0.991513	B;B	0.29531	0.005;0.247	B;B	0.40444	0.009;0.329	T	0.39482	-0.9612	10	0.36615	T	0.2	-26.0241	6.1768	0.20449	0.2142:0.265:0.0:0.5208	.	132;132	B1AKT4;Q9Y3A6	.;TMED5_HUMAN	H	132;132;81;132	ENSP00000359305:Q132H;ENSP00000418992:Q132H;ENSP00000359303:Q132H	ENSP00000359303:Q132H	Q	-	3	2	TMED5	93394520	0.167000	0.22975	0.057000	0.19452	0.980000	0.70556	-0.186000	0.09670	-0.850000	0.04152	-0.224000	0.12420	CAG		0.353	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		13	59	0	0	0	1	0	13	59				
MARC1	64757	broad.mit.edu	37	1	220969996	220969996	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:220969996T>C	ENST00000366910.5	+	3	647	c.461T>C	c.(460-462)cTg>cCg	p.L154P	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	154					detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										GTGCACGGCCTGGAGATAGAG	0.567																																						ENST00000366910.5																			0											c.(460-462)cTg>cCg		mitochondrial amidoxime reducing component 1							59.0	55.0	56.0					1																	220969996		2203	4300	6503	SO:0001583	missense	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220969996T>C	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.461T>C	1.37:g.220969996T>C	ENSP00000355877:p.Leu154Pro					MARC1_ENST00000496110.1_3'UTR	p.L154P	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN			3	647	+			154					A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	c.461T>C	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171781	0.38315	.	.	ENSG00000186205	ENST00000366910	T	0.18338	2.22	4.82	4.82	0.62117	MOSC, N-terminal beta barrel (1);Pyruvate kinase-like, insert domain (1);	0.339186	0.20872	N	0.084157	T	0.35799	0.0944	M	0.78456	2.415	0.51233	D	0.999912	D;D	0.63880	0.993;0.969	P;P	0.60886	0.81;0.88	T	0.08700	-1.0709	10	0.37606	T	0.19	-7.5057	9.4917	0.38965	0.1577:0.0:0.0:0.8423	.	154;154	Q5VT66-2;Q5VT66	.;MOSC1_HUMAN	P	154	ENSP00000355877:L154P	ENSP00000355877:L154P	L	+	2	0	MOSC1	219036619	0.556000	0.26538	0.967000	0.41034	0.391000	0.30476	1.102000	0.31050	1.802000	0.52723	0.533000	0.62120	CTG		0.567	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		20	40	0	0	0	1	0	20	40				
PCDH15	65217	broad.mit.edu	37	10	55996636	55996636	+	Missense_Mutation	SNP	C	C	G	rs61731390		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:55996636C>G	ENST00000320301.6	-	9	1326	c.932G>C	c.(931-933)cGg>cCg	p.R311P	PCDH15_ENST00000395446.1_Missense_Mutation_p.R311P|PCDH15_ENST00000437009.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395442.1_Missense_Mutation_p.R311P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395438.1_Missense_Mutation_p.R311P|PCDH15_ENST00000361849.3_Missense_Mutation_p.R311P|PCDH15_ENST00000414778.1_Missense_Mutation_p.R316P|PCDH15_ENST00000395430.1_Missense_Mutation_p.R311P|PCDH15_ENST00000373965.2_Missense_Mutation_p.R311P|PCDH15_ENST00000395432.2_Missense_Mutation_p.R274P|PCDH15_ENST00000373957.3_Missense_Mutation_p.R289P|PCDH15_ENST00000395445.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395433.1_Missense_Mutation_p.R289P|PCDH15_ENST00000395440.1_Missense_Mutation_p.R311P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	311	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R311Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGAATATTCCGGTCCTGATC	0.378										HNSCC(58;0.16)																												ENST00000373965.2																			1	Substitution - Missense(1)	p.R311Q(1)	pancreas(1)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(931-933)cGg>cCg		protocadherin-related 15							176.0	165.0	169.0					10																	55996636		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55996636C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.932G>C	10.37:g.55996636C>G	ENSP00000322604:p.Arg311Pro	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.R289P|PCDH15_ENST00000395446.1_Missense_Mutation_p.R311P|PCDH15_ENST00000320301.6_Missense_Mutation_p.R311P|PCDH15_ENST00000361849.3_Missense_Mutation_p.R311P|PCDH15_ENST00000395430.1_Missense_Mutation_p.R311P|PCDH15_ENST00000414778.1_Missense_Mutation_p.R316P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R274P|PCDH15_ENST00000373955.1_Missense_Mutation_p.R311P|PCDH15_ENST00000437009.1_Missense_Mutation_p.R311P|PCDH15_ENST00000373957.3_Missense_Mutation_p.R289P|PCDH15_ENST00000395438.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395440.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395442.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395445.1_Missense_Mutation_p.R311P	p.R311P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			9	1326	-		Melanoma(3;0.117)|Lung SC(717;0.238)	311			Cadherin 3.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.932G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938007	0.52972	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58506	1.16;1.16;1.16;1.16;1.16;1.16;1.16;0.33;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.19	4.28	0.50868	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.72170	0.3427	M	0.71581	2.175	0.38255	D	0.941721	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.69078	0.984;0.997;0.991;0.984;0.981;0.997;0.984;0.961;0.991;0.995;0.991;0.87;0.97;0.984;0.991	P;D;D;P;D;D;P;P;P;D;D;P;D;P;D	0.67382	0.81;0.951;0.923;0.865;0.923;0.951;0.81;0.88;0.904;0.947;0.923;0.619;0.942;0.88;0.923	T	0.76950	-0.2769	9	0.56958	D	0.05	.	12.8748	0.57984	0.0:0.9188:0.0:0.0812	.	289;311;311;316;311;274;311;311;311;311;311;316;311;289;311	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	P	311;316;311;311;311;311;311;311;274;311;289;289;311;311;316;311;311	ENSP00000363076:R311P;ENSP00000410304:R316P;ENSP00000378826:R311P;ENSP00000378832:R311P;ENSP00000378833:R311P;ENSP00000378829:R311P;ENSP00000378827:R311P;ENSP00000378820:R274P;ENSP00000354950:R311P;ENSP00000378821:R289P;ENSP00000363068:R289P;ENSP00000322604:R311P;ENSP00000378818:R311P;ENSP00000412628:R311P;ENSP00000363066:R311P	ENSP00000322604:R311P	R	-	2	0	PCDH15	55666642	0.810000	0.29049	0.983000	0.44433	0.025000	0.11179	0.694000	0.25512	1.180000	0.42898	0.650000	0.86243	CGG		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		52	114	0	0	0	1	0	52	114				
KLKB1	3818	broad.mit.edu	37	4	187173194	187173194	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:187173194C>A	ENST00000264690.6	+	11	1355	c.1168C>A	c.(1168-1170)Cgc>Agc	p.R390S	KLKB1_ENST00000513864.1_Missense_Mutation_p.R390S	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	390					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AACAAGCACACGCATTGTTGG	0.498																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1168-1170)Cgc>Agc		kallikrein B, plasma (Fletcher factor) 1							103.0	99.0	100.0					4																	187173194		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173194C>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1168C>A	4.37:g.187173194C>A	ENSP00000264690:p.Arg390Ser					KLKB1_ENST00000513864.1_Missense_Mutation_p.R390S	p.R390S	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	11	1355	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	390					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1168C>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.60|14.60	2.585097|2.585097	0.46110|0.46110	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.94897	.|-3.55;-3.55	5.58|5.58	4.62|4.62	0.57501|0.57501	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.|0.188357	.|0.36167	.|N	.|0.002753	D|D	0.96895|0.96895	0.8986|0.8986	M|M	0.81341|0.81341	2.54|2.54	0.40489|0.40489	D|D	0.980526|0.980526	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.87578	.|0.997;0.926;0.998	D|D	0.97078|0.97078	0.9782|0.9782	5|10	.|0.87932	.|D	.|0	.|.	13.249|13.249	0.60041|0.60041	0.2146:0.7854:0.0:0.0|0.2146:0.7854:0.0:0.0	.|.	.|352;390;390	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	Q|S	437|390;390;352	.|ENSP00000264690:R390S;ENSP00000424469:R390S	.|ENSP00000264690:R390S	H|R	+|+	3|1	2|0	KLKB1|KLKB1	187410188|187410188	0.005000|0.005000	0.15991|0.15991	0.968000|0.968000	0.41197|0.41197	0.159000|0.159000	0.22180|0.22180	1.485000|1.485000	0.35519|0.35519	2.793000|2.793000	0.96121|0.96121	0.645000|0.645000	0.84053|0.84053	CAC|CGC		0.498	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		17	73	1	0	3.51602e-12	1	4.00325e-12	17	73				
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	lincRNA	SNP	T	T	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468																																						ENST00000423249.1																			0																																																			101927648							g.chr1:143403554T>G																													1.37:g.143403554T>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.468	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			4	21	0	0	0	1	0	4	21				
APH1A	51107	broad.mit.edu	37	1	150238998	150238998	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:150238998G>A	ENST00000369109.3	-	6	856	c.668C>T	c.(667-669)tCc>tTc	p.S223F	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.S223F|APH1A_ENST00000414276.2_Missense_Mutation_p.S153F|C1orf54_ENST00000369102.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	223					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCCCATGGAAACAGTGAC	0.542																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(667-669)tCc>tTc		APH1A gamma secretase subunit							65.0	69.0	68.0					1																	150238998		2006	4164	6170	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150238998G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.668C>T	1.37:g.150238998G>A	ENSP00000358105:p.Ser223Phe					APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.S153F|APH1A_ENST00000369109.3_Missense_Mutation_p.S223F	p.S223F	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1160	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		223					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.668C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	9.227	1.034849	0.19590	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276	T;T;T	0.42513	0.97;0.97;0.97	6.07	6.07	0.98685	.	0.301363	0.31697	N	0.007213	T	0.21550	0.0519	N	0.11927	0.2	0.31352	N	0.682381	B;B;D;B;B;B	0.55800	0.122;0.009;0.973;0.002;0.002;0.002	B;B;P;B;B;B	0.50825	0.114;0.009;0.651;0.002;0.004;0.004	T	0.05599	-1.0875	10	0.31617	T	0.26	-16.3913	13.689	0.62533	0.0:0.1544:0.8456:0.0	.	107;166;153;223;223;223	B4DMX8;B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;.;APH1A_HUMAN	F	223;223;153	ENSP00000358105:S223F;ENSP00000353380:S223F;ENSP00000397473:S153F	ENSP00000353380:S223F	S	-	2	0	APH1A	148505622	0.965000	0.33210	1.000000	0.80357	0.999000	0.98932	1.829000	0.39121	2.890000	0.99128	0.650000	0.86243	TCC		0.542	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		4	42	0	0	0	1	0	4	42				
NDNF	79625	broad.mit.edu	37	4	121957435	121957435	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:121957435G>T	ENST00000379692.4	-	4	2217	c.1691C>A	c.(1690-1692)aCt>aAt	p.T564N	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	564	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GAACTTTCTAGTTTTCACAAC	0.378																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1690-1692)aCt>aAt		neuron-derived neurotrophic factor							106.0	116.0	112.0					4																	121957435		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121957435G>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1691C>A	4.37:g.121957435G>T	ENSP00000369014:p.Thr564Asn						p.T564N	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	2217	-			564			Fibronectin type-III 2.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1691C>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622992	0.66901	.	.	ENSG00000173376	ENST00000379692	T	0.62498	0.02	6.03	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81052	-0.1107	10	0.87932	D	0	-28.5888	16.7427	0.85464	0.0:0.0:0.8697:0.1303	.	564	Q8TB73	NDNF_HUMAN	N	564	ENSP00000369014:T564N	ENSP00000369014:T564N	T	-	2	0	NDNF	122176885	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.544000	0.49359	0.655000	0.94253	ACT		0.378	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		54	155	1	0	9.72345e-25	1	1.22653e-24	54	155				
FAM155A	728215	broad.mit.edu	37	13	108518400	108518400	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:108518400A>T	ENST00000375915.2	-	1	683	c.545T>A	c.(544-546)tTc>tAc	p.F182Y		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	182						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCACCGTGAAGCACTGGCC	0.667																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(544-546)tTc>tAc		family with sequence similarity 155, member A							39.0	47.0	44.0					13																	108518400		2200	4297	6497	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518400A>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.545T>A	13.37:g.108518400A>T	ENSP00000365080:p.Phe182Tyr						p.F182Y	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	683	-			182					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.545T>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336144	0.41398	.	.	ENSG00000204442	ENST00000375915	T	0.12255	2.7	5.67	4.47	0.54385	.	0.121347	0.56097	N	0.000036	T	0.09905	0.0243	N	0.22421	0.69	0.36133	D	0.846256	B	0.28350	0.208	B	0.25759	0.063	T	0.16100	-1.0414	10	0.46703	T	0.11	.	11.3913	0.49815	0.8645:0.0:0.0:0.1355	.	182	B1AL88	F155A_HUMAN	Y	182	ENSP00000365080:F182Y	ENSP00000365080:F182Y	F	-	2	0	FAM155A	107316401	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	8.510000	0.90532	0.959000	0.37980	-0.496000	0.04628	TTC		0.667	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		23	72	0	0	0	1	0	23	72				
SPEF2	79925	broad.mit.edu	37	5	35727788	35727788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:35727788G>T	ENST00000356031.3	+	21	3080	c.2926G>T	c.(2926-2928)Gga>Tga	p.G976*	SPEF2_ENST00000440995.2_Nonsense_Mutation_p.G971*|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	976					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTCCTAAAGGAAAATCATC	0.383																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2911-2913)Gga>Tga		sperm flagellar 2							81.0	77.0	79.0					5																	35727788		1875	4103	5978	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35727788G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2926G>T	5.37:g.35727788G>T	ENSP00000348314:p.Gly976*					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.G976*	p.G971*			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		21	2911	+	all_lung(31;7.56e-05)		976					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.2911G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	40	8.304081	0.98752	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	.	.	.	5.3	5.3	0.74995	.	0.091447	0.39210	N	0.001437	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.0464	0.80724	0.0:0.0:1.0:0.0	.	.	.	.	X	976;971	.	ENSP00000348314:G976X	G	+	1	0	SPEF2	35763545	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.143000	0.64826	2.641000	0.89580	0.650000	0.86243	GGA		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		25	73	1	0	1.36565e-18	1	1.64418e-18	25	73				
ZNF343	79175	broad.mit.edu	37	20	2464782	2464782	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:2464782C>T	ENST00000278772.4	-	6	1312	c.825G>A	c.(823-825)ggG>ggA	p.G275G	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TAAAGCTTCGCCCACAATCAC	0.468																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(823-825)ggG>ggA		zinc finger protein 343							85.0	82.0	83.0					20																	2464782		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464782C>T	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.825G>A	20.37:g.2464782C>T						RP4-734P14.4_ENST00000461548.1_Intron	p.G275G	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	1312	-			275					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.825G>A	CCDS13028.1																																																																																				0.468	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		36	83	0	0	0	1	0	36	83				
USP53	54532	broad.mit.edu	37	4	120193113	120193113	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:120193113A>T	ENST00000274030.6	+	16	3277	c.2098A>T	c.(2098-2100)Aat>Tat	p.N700Y	USP53_ENST00000450251.1_Missense_Mutation_p.N700Y	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGGTTCTACTAATTTGGACTC	0.388																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(2098-2100)Aat>Tat		ubiquitin specific peptidase 53							131.0	123.0	126.0					4																	120193113		1955	4165	6120	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120193113A>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2098A>T	4.37:g.120193113A>T	ENSP00000274030:p.Asn700Tyr					USP53_ENST00000274030.6_Missense_Mutation_p.N700Y	p.N700Y			Q70EK8	UBP53_HUMAN			12	2642	+			700						Missense_Mutation	SNP	ENST00000274030.6	37	c.2098A>T	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692122	0.68271	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.53423	0.62;0.62	5.58	3.09	0.35607	.	0.811916	0.11300	N	0.578276	T	0.57519	0.2059	M	0.64997	1.995	0.09310	N	1	D	0.61080	0.989	P	0.57283	0.817	T	0.45175	-0.9279	10	0.87932	D	0	-8.1909	7.0094	0.24853	0.7755:0.1492:0.0753:0.0	.	700	Q70EK8	UBP53_HUMAN	Y	700	ENSP00000274030:N700Y;ENSP00000409906:N700Y	ENSP00000274030:N700Y	N	+	1	0	USP53	120412561	0.324000	0.24652	0.000000	0.03702	0.984000	0.73092	4.765000	0.62271	0.384000	0.24942	0.460000	0.39030	AAT		0.388	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		66	128	0	0	0	1	0	66	128				
COBL	23242	broad.mit.edu	37	7	51258761	51258761	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:51258761C>A	ENST00000265136.7	-	4	636	c.471G>T	c.(469-471)ttG>ttT	p.L157F	COBL_ENST00000441453.1_Missense_Mutation_p.L157F|COBL_ENST00000395542.2_Missense_Mutation_p.L157F|COBL_ENST00000395540.2_Missense_Mutation_p.L157F	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	157					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AATTCACGACCAAACGCACAG	0.453																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(469-471)ttG>ttT		cordon-bleu WH2 repeat protein							41.0	39.0	40.0					7																	51258761		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51258761C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.471G>T	7.37:g.51258761C>A	ENSP00000265136:p.Leu157Phe					COBL_ENST00000395540.2_Missense_Mutation_p.L157F|COBL_ENST00000441453.1_Missense_Mutation_p.L157F|COBL_ENST00000265136.7_Missense_Mutation_p.L157F	p.L157F			O75128	COBL_HUMAN			4	655	-	Glioma(55;0.08)		157					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.471G>T	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.92|18.92	3.725273|3.725273	0.68959|0.68959	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	.|T;T;T;T;T	.|0.56444	.|0.46;1.46;0.46;0.46;0.46	5.78|5.78	2.98|2.98	0.34508|0.34508	.|Cordon-bleu domain (1);	.|0.000000	.|0.34828	.|N	.|0.003654	T|T	0.67211|0.67211	0.2869|0.2869	M|M	0.81802|0.81802	2.56|2.56	0.44447|0.44447	D|D	0.997373|0.997373	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999;0.999	T|T	0.64748|0.64748	-0.6334|-0.6334	5|10	.|0.72032	.|D	.|0.01	.|.	3.6239|3.6239	0.08105|0.08105	0.1376:0.5861:0.133:0.1433|0.1376:0.5861:0.133:0.1433	.|.	.|157;157;157;157;157	.|O75128-3;O75128-5;O75128-7;O75128;O75128-2	.|.;.;.;COBL_HUMAN;.	C|F	76|157;24;157;157;157;141	.|ENSP00000265136:L157F;ENSP00000401204:L24F;ENSP00000378912:L157F;ENSP00000378910:L157F;ENSP00000399500:L157F	.|ENSP00000265136:L157F	G|L	-|-	1|3	0|2	COBL|COBL	51226255|51226255	1.000000|1.000000	0.71417|0.71417	0.817000|0.817000	0.32601|0.32601	0.952000|0.952000	0.60782|0.60782	1.960000|1.960000	0.40422|0.40422	0.355000|0.355000	0.24131|0.24131	0.557000|0.557000	0.71058|0.71058	GGT|TTG		0.453	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		13	25	1	0	4.3838e-07	1	4.71744e-07	13	25				
EPB41L3	23136	broad.mit.edu	37	18	5398133	5398133	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:5398133A>G	ENST00000341928.2	-	17	2699	c.2359T>C	c.(2359-2361)Tct>Cct	p.S787P	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787P|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84P|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92P|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618P|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	787	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCCCAGAAGACTGCTTAGTC	0.423																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2359-2361)Tct>Cct		erythrocyte membrane protein band 4.1-like 3							190.0	205.0	200.0					18																	5398133		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398133A>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2359T>C	18.37:g.5398133A>G	ENSP00000343158:p.Ser787Pro					EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84P|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787P|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92P|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618P|EPB41L3_ENST00000400111.3_Intron	p.S787P	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2699	-			787			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2359T>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094115	0.36952	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	D;D;T;T;D	0.83075	-1.53;-1.68;-0.23;-0.35;-1.53	5.87	-1.28	0.09318	.	0.691758	0.15460	N	0.261150	T	0.81297	0.4793	M	0.65975	2.015	0.38496	D	0.948108	B;P;P;P;B	0.52170	0.001;0.593;0.951;0.863;0.134	B;B;P;B;B	0.54100	0.002;0.189;0.742;0.265;0.126	T	0.75110	-0.3433	10	0.31617	T	0.26	.	1.6289	0.02729	0.4609:0.1086:0.1174:0.3131	.	618;84;92;179;787	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	P	787;618;84;92;787	ENSP00000343158:S787P;ENSP00000441174:S618P;ENSP00000392195:S84P;ENSP00000442233:S92P;ENSP00000341138:S787P	ENSP00000343158:S787P	S	-	1	0	EPB41L3	5388133	1.000000	0.71417	0.980000	0.43619	0.928000	0.56348	1.218000	0.32467	-0.339000	0.08401	-0.327000	0.08410	TCT		0.423	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		89	418	0	0	0	1	0	89	418				
ZFHX4	79776	broad.mit.edu	37	8	77764100	77764100	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:77764100G>C	ENST00000521891.2	+	10	5391	c.4943G>C	c.(4942-4944)gGg>gCg	p.G1648A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1622A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1603A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1603A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1603	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTGGCCAGGGGATGTTAGAT	0.473										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4942-4944)gGg>gCg		zinc finger homeobox 4							73.0	71.0	72.0					8																	77764100		1923	4134	6057	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764100G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4943G>C	8.37:g.77764100G>C	ENSP00000430497:p.Gly1648Ala	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1603A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1603A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1622A	p.G1648A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5391	+			1603			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4943G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057571	0.36277	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49432	0.78;0.85;0.82;0.81	4.41	4.41	0.53225	.	0.000000	0.45126	U	0.000388	T	0.42359	0.1199	L	0.55481	1.735	0.50632	D	0.999883	B;B;B	0.28291	0.131;0.206;0.206	B;B;B	0.28011	0.039;0.085;0.085	T	0.34403	-0.9830	10	0.07990	T	0.79	.	17.537	0.87834	0.0:0.0:1.0:0.0	.	1603;1603;1648	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	A	1648;1648;1603;1603;1622	ENSP00000430497:G1648A;ENSP00000399605:G1603A;ENSP00000050961:G1603A;ENSP00000430848:G1622A	ENSP00000050961:G1603A	G	+	2	0	ZFHX4	77926655	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.722000	0.84778	2.456000	0.83038	0.542000	0.68232	GGG		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	59	0	0	0	1	0	25	59				
LRRC53	100144878	broad.mit.edu	37	1	74957916	74957916	+	Intron	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:74957916C>A	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.L887I|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L773I|TNNI3K_ENST00000370891.2_Missense_Mutation_p.L874I			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						GGAATATGCTCTAAATGCAAG	0.438																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2620-2622)Cta>Ata		TNNI3 interacting kinase							176.0	179.0	178.0					1																	74957916		2203	4300	6503	SO:0001627	intron_variant	51086							g.chr1:74957916C>A			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8857G>T	1.37:g.74957916C>A						FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.L874I|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L773I|LRRC53_ENST00000294635.4_Intron	p.L874I	NM_001112808.2	NP_001106279.1					25	2636	+									Missense_Mutation	SNP	ENST00000294635.4	37	c.2620C>A		.	.	.	.	.	.	.	.	.	.	C	13.89	2.371373	0.42003	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.74632	-0.86;-0.86;-0.84	5.91	5.0	0.66597	.	0.000000	0.64402	D	0.000001	T	0.44726	0.1307	L	0.34521	1.04	0.40634	D	0.981881	P;P	0.46512	0.595;0.879	B;B	0.41571	0.123;0.36	T	0.50189	-0.8857	10	0.28530	T	0.3	.	4.9921	0.14220	0.0:0.5882:0.154:0.2578	.	773;874	Q59H18;Q59H18-1	TNI3K_HUMAN;.	I	874;874;773	ENSP00000450895:L874I;ENSP00000359928:L874I;ENSP00000322251:L773I	ENSP00000322251:L773I	L	+	1	2	RP11-653A5.2;AC093158.1	74730504	1.000000	0.71417	0.996000	0.52242	0.847000	0.48162	1.573000	0.36472	1.506000	0.48736	0.655000	0.94253	CTA		0.438	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			48	123	1	0	1.02687e-29	1	1.31439e-29	48	123				
CDH9	1007	broad.mit.edu	37	5	26903811	26903811	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:26903811C>T	ENST00000231021.4	-	6	1106	c.934G>A	c.(934-936)Ggt>Agt	p.G312S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	312	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATGTCTGCACCATCTCCTTCA	0.428																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(934-936)Ggt>Agt		cadherin 9, type 2 (T1-cadherin)							299.0	262.0	274.0					5																	26903811		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903811C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.934G>A	5.37:g.26903811C>T	ENSP00000231021:p.Gly312Ser						p.G312S	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	1106	-			312			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.934G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628359	0.67015	.	.	ENSG00000113100	ENST00000231021	T	0.46819	0.86	5.74	5.74	0.90152	Cadherin (4);Cadherin-like (1);	0.163089	0.52532	D	0.000063	T	0.51024	0.1650	L	0.50847	1.595	0.37106	D	0.900127	B	0.16166	0.016	B	0.35240	0.198	T	0.48736	-0.9009	9	.	.	.	.	18.906	0.92462	0.0:1.0:0.0:0.0	.	312	Q9ULB4	CADH9_HUMAN	S	312	ENSP00000231021:G312S	.	G	-	1	0	CDH9	26939568	0.991000	0.36638	0.979000	0.43373	0.907000	0.53573	4.727000	0.61993	2.881000	0.98747	0.650000	0.86243	GGT		0.428	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		41	253	0	0	0	1	0	41	253				
PXMP4	11264	broad.mit.edu	37	20	32295525	32295525	+	Missense_Mutation	SNP	C	C	T	rs200916380		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:32295525C>T	ENST00000409299.3	-	4	718	c.626G>A	c.(625-627)cGt>cAt	p.R209H	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	209						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATTGGAGGGACGGCTCTTGTT	0.542													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20127	0.0		0.0	False		,,,				2504	0.0					ENST00000409299.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(625-627)cGt>cAt		peroxisomal membrane protein 4, 24kDa		C	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	117.0	106.0	110.0		626,	-2.7	0.0	20		110	0,8600		0,0,4300	yes	missense,utr-3	PXMP4	NM_007238.4,NM_183397.2	29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,	209/213,	32295525	1,13005	2203	4300	6503	SO:0001583	missense	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32295525C>T	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.626G>A	20.37:g.32295525C>T	ENSP00000386385:p.Arg209His					PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	p.R209H	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN			4	718	-			209					A2A2I7|Q9H0T4	Missense_Mutation	SNP	ENST00000409299.3	37	c.626G>A	CCDS13225.1	.	.	.	.	.	.	.	.	.	.	c	12.79	2.044778	0.36085	2.27E-4	0.0	ENSG00000101417	ENST00000409299	T	0.45668	0.89	5.83	-2.69	0.06022	.	0.814012	0.11847	N	0.523746	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.10405	-1.0631	10	0.42905	T	0.14	-1.8603	2.1584	0.03819	0.1043:0.2498:0.2474:0.3985	.	209	Q9Y6I8	PXMP4_HUMAN	H	209	ENSP00000386385:R209H	ENSP00000386385:R209H	R	-	2	0	PXMP4	31759186	0.000000	0.05858	0.003000	0.11579	0.083000	0.17756	-1.329000	0.02677	-0.783000	0.04534	-0.158000	0.13435	CGT		0.542	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		24	81	0	0	0	1	0	24	81				
PLCB2	5330	broad.mit.edu	37	15	40591145	40591145	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:40591145T>C	ENST00000260402.3	-	9	953	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	PLCB2_ENST00000557821.1_Missense_Mutation_p.Y235C|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000456256.2_Missense_Mutation_p.Y235C	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	235					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTTCGTCATGTAGGGTTTGGC	0.572																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(703-705)tAc>tGc		phospholipase C, beta 2							90.0	94.0	93.0					15																	40591145		2039	4186	6225	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40591145T>C		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.704A>G	15.37:g.40591145T>C	ENSP00000260402:p.Tyr235Cys					PLCB2_ENST00000557821.1_Missense_Mutation_p.Y235C|PLCB2_ENST00000456256.2_Missense_Mutation_p.Y235C	p.Y235C	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	9	953	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	235					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.704A>G	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792299	0.50102	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.48836	0.8;0.8	3.96	3.96	0.45880	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.203643	0.43579	D	0.000559	T	0.60392	0.2265	L	0.55990	1.75	0.80722	D	1	D;P;P	0.89917	1.0;0.877;0.63	D;B;B	0.68353	0.957;0.337;0.224	T	0.59568	-0.7430	10	0.37606	T	0.19	.	13.3001	0.60319	0.0:0.0:0.0:1.0	.	235;235;235	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	C	235	ENSP00000260402:Y235C;ENSP00000411991:Y235C	ENSP00000260402:Y235C	Y	-	2	0	PLCB2	38378437	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.185000	0.58330	1.785000	0.52413	0.459000	0.35465	TAC		0.572	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			54	102	0	0	0	1	0	54	102				
GTF2A1L	11036	broad.mit.edu	37	2	48872217	48872217	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:48872217A>T	ENST00000403751.3	+	5	386	c.349A>T	c.(349-351)Att>Ttt	p.I117F	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I821F|LHCGR_ENST00000420913.3_Intron|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.I83F|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I821F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I821F|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.I821F	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	117					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGTTATCCCATTCATGTACC	0.333																																						ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(2461-2463)Att>Ttt									117.0	118.0	118.0					2																	48872217		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48872217A>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.349A>T	2.37:g.48872217A>T	ENSP00000384597:p.Ile117Phe					GTF2A1L_ENST00000430487.2_Missense_Mutation_p.I83F|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.I117F|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I821F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I821F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I821F|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394751.3_Intron	p.I821F	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	2575	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	786					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2461A>T	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605240	0.66445	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T	0.49139	2.83;2.85;2.83;2.83;0.79	5.06	2.63	0.31362	.	0.148846	0.46145	D	0.000313	T	0.64494	0.2603	M	0.78801	2.425	0.80722	D	1	D;P;D;P	0.89917	0.999;0.954;1.0;0.863	D;P;D;P	0.91635	0.994;0.867;0.999;0.745	T	0.63278	-0.6673	10	0.87932	D	0	.	7.6381	0.28277	0.8267:0.0:0.1733:0.0	.	83;821;117;821	Q9UNN4-2;B5MCF5;Q9UNN4;Q53S48	.;.;TF2AY_HUMAN;.	F	821;821;821;821;116;83;126;83;117	ENSP00000385499:I821F;ENSP00000385701:I821F;ENSP00000378236:I821F;ENSP00000311493:I821F;ENSP00000396702:I126F	ENSP00000384597:I117F	I	+	1	0	STON1-GTF2A1L;GTF2A1L	48725721	0.350000	0.24878	0.992000	0.48379	0.901000	0.52897	0.307000	0.19296	0.336000	0.23639	0.383000	0.25322	ATT		0.333	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		22	61	0	0	0	1	0	22	61				
SLC16A5	9121	broad.mit.edu	37	17	73096393	73096393	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:73096393C>T	ENST00000450736.2	+	4	1050	c.635C>T	c.(634-636)gCa>gTa	p.A212V	SLC16A5_ENST00000580123.1_Missense_Mutation_p.A212V|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A212V|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A252V			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	212					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GAGACACCTGCACTTGGCTGC	0.627																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(634-636)gCa>gTa		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						69.0	62.0	64.0					17																	73096393		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096393C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.635C>T	17.37:g.73096393C>T	ENSP00000390564:p.Ala212Val					SLC16A5_ENST00000329783.4_Missense_Mutation_p.A212V|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A212V|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A252V	p.A212V			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1050	+	all_lung(278;0.226)		212					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.635C>T	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	C	2.097	-0.407022	0.04832	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.06608	3.28;3.28;3.29	4.58	-1.2	0.09554	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.084440	0.06985	N	0.820588	T	0.03871	0.0109	N	0.13235	0.315	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.004;0.007	T	0.46871	-0.9160	10	0.28530	T	0.3	.	6.2757	0.20979	0.0:0.5093:0.2206:0.2701	.	252;212	B4E288;O15375	.;MOT6_HUMAN	V	212;212;252	ENSP00000330141:A212V;ENSP00000390564:A212V;ENSP00000440212:A252V	ENSP00000330141:A212V	A	+	2	0	SLC16A5	70607988	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.348000	0.20031	-0.110000	0.12022	-1.069000	0.02264	GCA		0.627	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		9	45	0	0	0	1	0	9	45				
CYB5R3	1727	broad.mit.edu	37	22	43023656	43023656	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:43023656T>C	ENST00000352397.5	-	6	754	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	CYB5R3_ENST00000361740.4_Missense_Mutation_p.I201V|CYB5R3_ENST00000402438.1_Missense_Mutation_p.I145V|CYB5R3_ENST00000396303.3_Missense_Mutation_p.I145V|CYB5R3_ENST00000407332.1_Missense_Mutation_p.I145V|CYB5R3_ENST00000407623.3_Missense_Mutation_p.I145V	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	168					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	GTCCTGATGATAGGGTTGGAC	0.602																																						ENST00000361740.4																			0				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(601-603)Atc>Gtc		cytochrome b5 reductase 3	NADH(DB00157)						121.0	101.0	108.0					22																	43023656		2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43023656T>C	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.502A>G	22.37:g.43023656T>C	ENSP00000338461:p.Ile168Val					CYB5R3_ENST00000352397.5_Missense_Mutation_p.I168V|CYB5R3_ENST00000402438.1_Missense_Mutation_p.I145V|CYB5R3_ENST00000396303.3_Missense_Mutation_p.I145V|CYB5R3_ENST00000407332.1_Missense_Mutation_p.I145V|CYB5R3_ENST00000407623.3_Missense_Mutation_p.I145V	p.I201V	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN			6	600	-			168					B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	c.601A>G	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	C	9.170	1.020987	0.19433	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;T	0.86694	-2.16;-2.12;-2.14;-2.12;-2.12;-2.12;-1.35	4.97	-2.59	0.06209	.	0.349382	0.28641	N	0.014636	T	0.62962	0.2471	N	0.01464	-0.85	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54682	-0.8257	10	0.21540	T	0.41	-19.8215	11.1174	0.48268	0.0:0.4899:0.0:0.5101	.	201;168	B7Z7L3;P00387	.;NB5R3_HUMAN	V	201;145;168;145;145;145;145	ENSP00000354468:I201V;ENSP00000379597:I145V;ENSP00000338461:I168V;ENSP00000384834:I145V;ENSP00000384457:I145V;ENSP00000385679:I145V;ENSP00000403439:I145V	ENSP00000338461:I168V	I	-	1	0	CYB5R3	41353600	0.005000	0.15991	0.000000	0.03702	0.779000	0.44077	1.490000	0.35573	-0.690000	0.05142	-0.128000	0.14901	ATC		0.602	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			34	90	0	0	0	1	0	34	90				
NACA	4666	broad.mit.edu	37	12	57107449	57107449	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:57107449G>C	ENST00000454682.1	-	6	6123	c.5842C>G	c.(5842-5844)Ctt>Gtt	p.L1948V	NACA_ENST00000393891.4_Missense_Mutation_p.L85V|NACA_ENST00000552540.1_Missense_Mutation_p.L85V|NACA_ENST00000546392.1_Missense_Mutation_p.L85V|NACA_ENST00000356769.3_Missense_Mutation_p.L85V|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000548563.1_Missense_Mutation_p.L6V|NACA_ENST00000550952.1_Missense_Mutation_p.L795V	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1948	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACCTGCCGAAGACCCAGTTTG	0.403			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5842-5844)Ctt>Gtt		nascent polypeptide-associated complex alpha subunit							143.0	149.0	147.0					12																	57107449		2203	4300	6503	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57107449G>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5842C>G	12.37:g.57107449G>C	ENSP00000403817:p.Leu1948Val					NACA_ENST00000393891.4_Missense_Mutation_p.L85V|NACA_ENST00000552540.1_Missense_Mutation_p.L85V|NACA_ENST00000546392.1_Missense_Mutation_p.L85V|NACA_ENST00000356769.3_Missense_Mutation_p.L85V|NACA_ENST00000548563.1_Missense_Mutation_p.L6V|NACA_ENST00000550952.1_Missense_Mutation_p.L795V	p.L1948V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			6	6123	-			85						Missense_Mutation	SNP	ENST00000454682.1	37	c.5842C>G		.	.	.	.	.	.	.	.	.	.	G	22.0	4.234995	0.79800	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000548563;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000546862;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.78816	-0.44;-0.88;-1.21;-0.39;-0.39;-0.39;-0.39;-0.36;-0.1;-0.22	5.15	5.15	0.70609	Nascent polypeptide-associated complex NAC (2);	0.000000	0.64402	D	0.000001	D	0.91392	0.7284	H	0.95004	3.61	0.53688	D	0.999979	D;D;D	0.76494	0.998;0.999;0.978	D;D;P	0.81914	0.995;0.993;0.78	D	0.93777	0.7080	10	0.87932	D	0	.	17.3906	0.87430	0.0:0.0:1.0:0.0	.	1948;795;85	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	V	83;1948;795;85;85;85;6;85;85;81;6;85	ENSP00000448039:L83V;ENSP00000403817:L1948V;ENSP00000448035:L795V;ENSP00000349212:L85V;ENSP00000447821:L85V;ENSP00000377469:L85V;ENSP00000446801:L85V;ENSP00000447133:L85V;ENSP00000450383:L81V;ENSP00000447764:L85V	ENSP00000349212:L85V	L	-	1	0	NACA	55393716	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.898000	0.87363	2.409000	0.81822	0.557000	0.71058	CTT		0.403	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		29	306	0	0	0	1	0	29	306				
UTP20	27340	broad.mit.edu	37	12	101757450	101757450	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:101757450G>T	ENST00000261637.4	+	45	6061	c.5887G>T	c.(5887-5889)Gac>Tac	p.D1963Y		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1963					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAAAGTTACGACTCTTATGA	0.393																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(5887-5889)Gac>Tac		UTP20, small subunit (SSU) processome component, homolog (yeast)							118.0	105.0	109.0					12																	101757450		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101757450G>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5887G>T	12.37:g.101757450G>T	ENSP00000261637:p.Asp1963Tyr						p.D1963Y	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			45	6061	+			1963					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5887G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668739	0.88348	.	.	ENSG00000120800	ENST00000261637	T	0.53857	0.6	5.92	5.92	0.95590	Armadillo-type fold (1);	0.088182	0.85682	D	0.000000	T	0.80003	0.4544	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	D	0.83810	0.0241	10	0.87932	D	0	-8.525	20.3248	0.98698	0.0:0.0:1.0:0.0	.	1963	O75691	UTP20_HUMAN	Y	1963	ENSP00000261637:D1963Y	ENSP00000261637:D1963Y	D	+	1	0	UTP20	100281581	1.000000	0.71417	0.739000	0.30968	0.858000	0.48976	7.814000	0.86154	2.818000	0.97014	0.655000	0.94253	GAC		0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		10	66	1	0	4.3838e-07	1	4.71744e-07	10	66				
PAN3	255967	broad.mit.edu	37	13	28866542	28866542	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:28866542A>G	ENST00000380958.3	+	19	2699	c.2547A>G	c.(2545-2547)aaA>aaG	p.K849K	PAN3_ENST00000399613.1_Silent_p.K649K|PAN3_ENST00000282391.5_Silent_p.K537K	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGCCAGAAAAAATAAGCCTGA	0.353																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1945-1947)aaA>aaG		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							127.0	121.0	123.0					13																	28866542		2203	4300	6503	SO:0001819	synonymous_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28866542A>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2547A>G	13.37:g.28866542A>G						PAN3_ENST00000380958.3_Silent_p.K849K|PAN3_ENST00000282391.5_Silent_p.K537K	p.K649K			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	18	2010	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	849			Interaction with PAN2.|Protein kinase.			Silent	SNP	ENST00000380958.3	37	c.1947A>G	CCDS9329.2																																																																																				0.353	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		41	55	0	0	0	1	0	41	55				
ZHX1	11244	broad.mit.edu	37	8	124266826	124266826	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:124266826T>A	ENST00000522655.1	-	3	1901	c.1361A>T	c.(1360-1362)aAa>aTa	p.K454I	ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.K454I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.K454I			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	454	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTTTCATGTTTGACACTTTG	0.403																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1360-1362)aAa>aTa		zinc fingers and homeoboxes 1							133.0	140.0	138.0					8																	124266826		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266826T>A	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1361A>T	8.37:g.124266826T>A	ENSP00000428821:p.Lys454Ile					ZHX1_ENST00000297857.2_Missense_Mutation_p.K454I|ZHX1_ENST00000522655.1_Missense_Mutation_p.K454I|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.K454I	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1978	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		454			Required for interaction with NFYA.		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.1361A>T	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.38|10.38	1.335266|1.335266	0.24253|0.24253	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	T;T;T|.	0.24350|.	1.86;1.86;1.86|.	4.9|4.9	3.75|3.75	0.43078|0.43078	.|.	0.329174|.	0.32785|.	N|.	0.005650|.	T|T	0.53384|0.53384	0.1793|0.1793	.|.	.|.	.|.	0.35081|0.35081	D|D	0.763394|0.763394	B|.	0.30021|.	0.265|.	B|.	0.33521|.	0.165|.	T|T	0.60934|0.60934	-0.7164|-0.7164	9|4	0.38643|.	T|.	0.18|.	-19.0691|-19.0691	9.78|9.78	0.40643|0.40643	0.0:0.0827:0.0:0.9173|0.0:0.0827:0.0:0.9173	.|.	454|.	Q9UKY1|.	ZHX1_HUMAN|.	I|Y	454|139	ENSP00000297857:K454I;ENSP00000378938:K454I;ENSP00000428821:K454I|.	ENSP00000297857:K454I|.	K|N	-|-	2|1	0|0	ZHX1|ZHX1	124336007|124336007	0.998000|0.998000	0.40836|0.40836	0.797000|0.797000	0.32132|0.32132	0.831000|0.831000	0.47069|0.47069	2.466000|2.466000	0.45084|0.45084	0.902000|0.902000	0.36520|0.36520	0.374000|0.374000	0.22700|0.22700	AAA|AAC		0.403	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			83	340	0	0	0	1	0	83	340				
LOC151174	151174	broad.mit.edu	37	2	239140693	239140693	+	5'Flank	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:239140693G>A	ENST00000409070.1	-	0	0				AC016757.3_ENST00000409942.1_5'Flank|AC016757.3_ENST00000470346.1_5'Flank|AC016757.3_ENST00000334973.4_5'Flank|AC016757.3_ENST00000409376.1_5'Flank|AC096574.4_ENST00000456601.1_RNA																							CCGGCTGGTAGAAGGAATTCT	0.527																																						ENST00000456601.1																			0																																																	SO:0001631	upstream_gene_variant	101927958							g.chr2:239140693G>A																													2.37:g.239140693G>A	Exception_encountered													0	369	+									RNA	SNP	ENST00000409070.1	37																																																																																						0.527	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000328480.1			11	27	0	0	0	1	0	11	27				
OC90	729330	broad.mit.edu	37	8	133053850	133053850	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:133053850A>T	ENST00000443356.2	-	5	352	c.266T>A	c.(265-267)cTc>cAc	p.L89H	OC90_ENST00000262283.5_Missense_Mutation_p.L285H|OC90_ENST00000603859.1_Missense_Mutation_p.L89H|OC90_ENST00000254627.3_Missense_Mutation_p.L89H			Q02509	OC90_HUMAN	otoconin 90	89	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCGGGGGCAGAGACCAGCCAC	0.527																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(853-855)cTc>cAc		otoconin 90							44.0	46.0	45.0					8																	133053850		2019	4181	6200	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053850A>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.266T>A	8.37:g.133053850A>T	ENSP00000390050:p.Leu89His					OC90_ENST00000603859.1_Missense_Mutation_p.L89H|OC90_ENST00000254627.3_Missense_Mutation_p.L89H|OC90_ENST00000443356.2_Missense_Mutation_p.L89H	p.L285H			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	953	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		89					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.854T>A		.	.	.	.	.	.	.	.	.	.	A	21.2	4.117610	0.77323	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26957	1.7;1.7;1.7	5.88	5.88	0.94601	Phospholipase A2 (3);	0.206931	0.42053	D	0.000776	T	0.44726	0.1307	L	0.52011	1.625	0.33143	D	0.544617	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.56068	-0.8040	10	0.45353	T	0.12	-18.6967	14.0203	0.64550	1.0:0.0:0.0:0.0	.	89;89	Q02509-2;Q02509	.;OC90_HUMAN	H	89;89;285	ENSP00000254627:L89H;ENSP00000390050:L89H;ENSP00000262283:L285H	ENSP00000254627:L89H	L	-	2	0	RP11-240B13.2;OC90	133123032	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.625000	0.83145	2.251000	0.74343	0.482000	0.46254	CTC		0.527	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		52	42	0	0	0	1	0	52	42				
MROH2B	133558	broad.mit.edu	37	5	41039604	41039604	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:41039604T>C	ENST00000399564.4	-	20	2457	c.2007A>G	c.(2005-2007)ttA>ttG	p.L669L	MROH2B_ENST00000506092.2_Silent_p.L224L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	669																	TAAGAACTTTTAAAACAATAT	0.308																																						ENST00000399564.4																			0											c.(2005-2007)ttA>ttG		maestro heat-like repeat family member 2B							47.0	45.0	46.0					5																	41039604		1809	4068	5877	SO:0001819	synonymous_variant	133558							g.chr5:41039604T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2007A>G	5.37:g.41039604T>C						MROH2B_ENST00000506092.2_Silent_p.L224L	p.L669L	NM_173489.4	NP_775760.3					20	2457	-								Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.2007A>G	CCDS47202.1																																																																																				0.308	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	44	0	0	0	1	0	7	44				
SLC2A6	11182	broad.mit.edu	37	9	136343499	136343499	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:136343499G>C	ENST00000371899.4	-	2	209	c.132C>G	c.(130-132)gcC>gcG	p.A44A	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.A44A	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	44					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGAGCACTGCGGCGAAGGTGG	0.587																																						ENST00000371899.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10						c.(130-132)gcC>gcG		solute carrier family 2 (facilitated glucose transporter), member 6							150.0	146.0	148.0					9																	136343499		2203	4300	6503	SO:0001819	synonymous_variant	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136343499G>C	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.132C>G	9.37:g.136343499G>C						SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.A44A	p.A44A	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	2	209	-			44					A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	c.132C>G	CCDS6975.1																																																																																				0.587	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		67	159	0	0	0	1	0	67	159				
RANBP10	57610	broad.mit.edu	37	16	67768910	67768910	+	Silent	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:67768910A>C	ENST00000317506.3	-	6	742	c.627T>G	c.(625-627)ccT>ccG	p.P209P	RANBP10_ENST00000448631.2_Silent_p.P153P|RANBP10_ENST00000411657.2_Silent_p.P92P|RANBP10_ENST00000602887.1_5'Flank|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000425512.2_Silent_p.P77P|RANBP10_ENST00000602677.1_Silent_p.P209P	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CAATCTCCCCAGGTGTCTGCA	0.597																																						ENST00000317506.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(625-627)ccT>ccG		RAN binding protein 10							64.0	58.0	60.0					16																	67768910		2198	4300	6498	SO:0001819	synonymous_variant	57610							g.chr16:67768910A>C	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.627T>G	16.37:g.67768910A>C						RANBP10_ENST00000411657.2_Silent_p.P92P|RANBP10_ENST00000602677.1_Silent_p.P209P|RANBP10_ENST00000425512.2_Silent_p.P77P|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000448631.2_Silent_p.P153P	p.P209P	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	6	742	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	209			B30.2/SPRY.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Silent	SNP	ENST00000317506.3	37	c.627T>G	CCDS32469.1																																																																																				0.597	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		16	43	0	0	0	1	0	16	43				
MS4A1	931	broad.mit.edu	37	11	60234504	60234504	+	Missense_Mutation	SNP	T	T	A	rs200449073		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:60234504T>A	ENST00000534668.1	+	6	935	c.646T>A	c.(646-648)Tgg>Agg	p.W216R	MS4A1_ENST00000345732.4_Missense_Mutation_p.W216R|MS4A1_ENST00000528313.1_Missense_Mutation_p.W49R|MS4A1_ENST00000389939.2_Missense_Mutation_p.W216R|MS4A1_ENST00000532073.1_Missense_Mutation_p.W203R	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	216					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TGAGAATGAATGGAAAAGAAC	0.433																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(646-648)Tgg>Agg		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						141.0	126.0	131.0					11																	60234504		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60234504T>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.646T>A	11.37:g.60234504T>A	ENSP00000433277:p.Trp216Arg					MS4A1_ENST00000389939.2_Missense_Mutation_p.W216R|MS4A1_ENST00000532073.1_Missense_Mutation_p.W203R|MS4A1_ENST00000345732.4_Missense_Mutation_p.W216R|MS4A1_ENST00000528313.1_Missense_Mutation_p.W49R	p.W216R	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			6	935	+			216					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.646T>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784557	0.49997	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.65178	1.78;-0.14;1.78;1.78	5.3	5.3	0.74995	.	0.793989	0.11770	N	0.531184	T	0.78394	0.4276	M	0.75447	2.3	0.40852	D	0.983768	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.75411	-0.3327	10	0.46703	T	0.11	-31.5575	11.9181	0.52778	0.0:0.0:0.0:1.0	.	49;203;216	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	R	216;203;216;49;216	ENSP00000314620:W216R;ENSP00000433519:W203R;ENSP00000433277:W216R;ENSP00000374589:W216R	ENSP00000314620:W216R	W	+	1	0	MS4A1	59991080	1.000000	0.71417	0.990000	0.47175	0.171000	0.22731	3.595000	0.54016	2.141000	0.66446	0.533000	0.62120	TGG		0.433	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			39	135	0	0	0	1	0	39	135				
FAT3	120114	broad.mit.edu	37	11	92534474	92534474	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:92534474T>C	ENST00000298047.6	+	9	8312	c.8295T>C	c.(8293-8295)atT>atC	p.I2765I	FAT3_ENST00000409404.2_Silent_p.I2765I|FAT3_ENST00000525166.1_Silent_p.I2615I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2765	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGCACTATTAAGCTTGACA	0.458										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8293-8295)atT>atC		FAT atypical cadherin 3							73.0	69.0	70.0					11																	92534474		1923	4133	6056	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534474T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8295T>C	11.37:g.92534474T>C		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.I2615I|FAT3_ENST00000409404.2_Silent_p.I2765I	p.I2765I			Q8TDW7	FAT3_HUMAN			9	8312	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2765			Cadherin 25.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8295T>C																																																																																					0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	40	0	0	0	1	0	11	40				
GC	2638	broad.mit.edu	37	4	72629156	72629156	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:72629156C>T	ENST00000273951.8	-	6	1013	c.670G>A	c.(670-672)Gct>Act	p.A224T	GC_ENST00000504199.1_Missense_Mutation_p.A243T|GC_ENST00000513476.1_Missense_Mutation_p.A224T|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	224	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	CCATAAGCAGCATATTGTGAG	0.363																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(670-672)Gct>Act		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						120.0	112.0	115.0					4																	72629156		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72629156C>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.670G>A	4.37:g.72629156C>T	ENSP00000273951:p.Ala224Thr					GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.A243T|GC_ENST00000513476.1_Missense_Mutation_p.A224T	p.A224T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		6	1013	-		all_hematologic(202;0.107)	224			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.670G>A	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	9.994	1.231535	0.22626	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.72725	-0.68;-0.68;-0.68	5.72	3.06	0.35304	.	0.602079	0.17639	N	0.167114	T	0.55289	0.1911	L	0.58669	1.825	0.22779	N	0.998741	B;B	0.33612	0.163;0.419	B;B	0.23574	0.032;0.047	T	0.38457	-0.9660	10	0.10377	T	0.69	.	5.7168	0.17964	0.1305:0.607:0.0:0.2625	.	243;224	D6RAK8;D6RF35	.;.	T	224;243;224	ENSP00000273951:A224T;ENSP00000421725:A243T;ENSP00000426683:A224T	ENSP00000273951:A224T	A	-	1	0	GC	72848020	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	1.272000	0.33109	0.771000	0.33359	0.655000	0.94253	GCT		0.363	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			19	88	0	0	0	1	0	19	88				
SBF1	6305	broad.mit.edu	37	22	50904401	50904401	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:50904401C>T	ENST00000390679.3	-	9	1184	c.1000G>A	c.(1000-1002)Gtg>Atg	p.V334M	SBF1_ENST00000380817.3_Missense_Mutation_p.V334M|SBF1_ENST00000348911.6_Missense_Mutation_p.V335M			O95248	MTMR5_HUMAN	SET binding factor 1	334					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)		ATGCTCAGCACACTGTGCGTC	0.622																																						ENST00000380817.2																			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.(1000-1002)Gtg>Atg		SET binding factor 1							105.0	108.0	107.0					22																	50904401		2163	4261	6424	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50904401C>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.1000G>A	22.37:g.50904401C>T	ENSP00000375097:p.Val334Met					SBF1_ENST00000390679.3_Missense_Mutation_p.V334M|SBF1_ENST00000348911.6_Missense_Mutation_p.V335M	p.V334M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	9	1183	-		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)	334					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1000G>A		.	.	.	.	.	.	.	.	.	.	C	10.66	1.412460	0.25465	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86497	-2.13;-2.13;-2.13	4.4	0.993	0.19825	.	1.611180	0.03811	N	0.265860	T	0.74816	0.3766	N	0.08118	0	0.09310	N	1	B;B	0.32526	0.189;0.374	B;B	0.32289	0.102;0.143	T	0.66176	-0.5989	10	0.51188	T	0.08	.	5.3002	0.15773	0.0:0.6412:0.1659:0.1929	.	335;334	G5E933;O95248-4	.;.	M	334;335;345;344;334	ENSP00000370196:V334M;ENSP00000252027:V335M;ENSP00000375097:V334M	ENSP00000336522:V344M	V	-	1	0	SBF1	49251267	0.004000	0.15560	0.084000	0.20598	0.751000	0.42716	0.429000	0.21412	0.102000	0.17638	0.555000	0.69702	GTG		0.622	SBF1-201	KNOWN	basic	protein_coding	protein_coding				18	89	0	0	0	1	0	18	89				
TYR	7299	broad.mit.edu	37	11	88911788	88911788	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:88911788C>A	ENST00000263321.5	+	1	1169	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	223					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Q223K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ACAAGAAATCCAGAAGCTGAC	0.468																																						ENST00000263321.5																			1	Substitution - Missense(1)	p.Q223K(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(667-669)Cag>Aag		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						123.0	118.0	120.0					11																	88911788		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911788C>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.667C>A	11.37:g.88911788C>A	ENSP00000263321:p.Gln223Lys					TYR_ENST00000526139.1_3'UTR	p.Q223K	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	1169	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	223					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.667C>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220390	0.58560	.	.	ENSG00000077498	ENST00000263321	D	0.98381	-4.9	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.152043	0.64402	D	0.000018	D	0.98216	0.9410	M	0.85299	2.745	0.37074	D	0.898661	P	0.34662	0.462	B	0.39562	0.303	D	0.99928	1.1299	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	223	P14679	TYRO_HUMAN	K	223	ENSP00000263321:Q223K	.	Q	+	1	0	TYR	88551436	0.998000	0.40836	0.725000	0.30721	0.927000	0.56198	2.157000	0.42320	2.885000	0.99019	0.655000	0.94253	CAG		0.468	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		42	147	1	0	1.57019e-19	1	1.91702e-19	42	147				
COL11A1	1301	broad.mit.edu	37	1	103471837	103471837	+	Missense_Mutation	SNP	G	G	T	rs202011565		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:103471837G>T	ENST00000370096.3	-	16	2030	c.1718C>A	c.(1717-1719)aCg>aAg	p.T573K	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.T534K|COL11A1_ENST00000358392.2_Missense_Mutation_p.T585K|COL11A1_ENST00000512756.1_Missense_Mutation_p.T457K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	573	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTTTTCCCGTTGGACCAGG	0.348																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1753-1755)aCg>aAg		collagen, type XI, alpha 1							50.0	57.0	54.0					1																	103471837		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471837G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1718C>A	1.37:g.103471837G>T	ENSP00000359114:p.Thr573Lys					COL11A1_ENST00000512756.1_Missense_Mutation_p.T457K|COL11A1_ENST00000353414.4_Missense_Mutation_p.T534K|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.T573K	p.T585K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	16	2071	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	573			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1754C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985300	0.35036	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.08	5.31	3.45	0.39498	.	0.356446	0.29218	N	0.012800	T	0.73636	0.3612	N	0.02854	-0.475	0.09310	N	1	B;B;B;B	0.20164	0.042;0.034;0.034;0.042	B;B;B;B	0.26969	0.075;0.045;0.045;0.075	T	0.68187	-0.5475	10	0.72032	D	0.01	.	6.2843	0.21025	0.2264:0.1433:0.6304:0.0	.	457;534;585;573	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	K	573;585;534;457	ENSP00000359114:T573K;ENSP00000351163:T585K;ENSP00000302551:T534K;ENSP00000426533:T457K	ENSP00000302551:T534K	T	-	2	0	COL11A1	103244425	0.974000	0.33945	0.195000	0.23364	0.881000	0.50899	2.528000	0.45624	0.632000	0.30432	0.563000	0.77884	ACG		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		6	62	1	0	0.0215528	1	0.0218766	6	62				
RBM24	221662	broad.mit.edu	37	6	17292144	17292144	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:17292144G>A	ENST00000379052.5	+	4	741	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	RBM24_ENST00000318204.5_Missense_Mutation_p.A124T|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.A111T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	169	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			tgctgccgccgccgctgctgc	0.597																																						ENST00000379052.5																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(505-507)Gcc>Acc		RNA binding motif protein 24							19.0	25.0	23.0					6																	17292144		2117	4106	6223	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292144G>A	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.505G>A	6.37:g.17292144G>A	ENSP00000368341:p.Ala169Thr					RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.A111T|RBM24_ENST00000318204.5_Missense_Mutation_p.A124T	p.A169T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	741	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	169			Ala-rich.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.505G>A	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034191	0.54896	.	.	ENSG00000112183	ENST00000379052;ENST00000425446;ENST00000318204	T;T;T	0.31510	2.42;1.49;2.42	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.985	T	0.02821	-1.1106	10	0.16420	T	0.52	-10.8402	19.8414	0.96690	0.0:0.0:1.0:0.0	.	124;169	Q9BX46-2;Q9BX46	.;RBM24_HUMAN	T	169;111;124	ENSP00000368341:A169T;ENSP00000396898:A111T;ENSP00000319551:A124T	ENSP00000319551:A124T	A	+	1	0	RBM24	17400123	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.834000	0.86773	2.695000	0.91970	0.591000	0.81541	GCC		0.597	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		4	74	0	0	0	1	0	4	74				
NLGN4X	57502	broad.mit.edu	37	X	5810948	5810948	+	Silent	SNP	C	C	T	rs374449420		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:5810948C>T	ENST00000381095.3	-	6	2988	c.2361G>A	c.(2359-2361)acG>acA	p.T787T	NLGN4X_ENST00000275857.6_Silent_p.T787T|NLGN4X_ENST00000381093.2_Silent_p.T807T|NLGN4X_ENST00000538097.1_Silent_p.T787T|NLGN4X_ENST00000381092.1_Silent_p.T787T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	787					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCTGCATCCCCGTCAGTGTGT	0.517																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(2359-2361)acG>acA		neuroligin 4, X-linked		C	,	1,3834		0,1,1631,571	281.0	233.0	249.0		2361,2361	-0.8	0.9	X		249	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	NLGN4X	NM_020742.2,NM_181332.1	,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,	787/817,787/817	5810948	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5810948C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2361G>A	X.37:g.5810948C>T						NLGN4X_ENST00000381093.2_Silent_p.T807T|NLGN4X_ENST00000275857.6_Silent_p.T787T|NLGN4X_ENST00000538097.1_Silent_p.T787T|NLGN4X_ENST00000381092.1_Silent_p.T787T	p.T787T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			6	2988	-			787					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.2361G>A	CCDS14126.1																																																																																				0.517	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		23	59	0	0	0	1	0	23	59				
RABGAP1L	9910	broad.mit.edu	37	1	174210701	174210701	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:174210701G>T	ENST00000251507.4	+	5	797	c.623G>T	c.(622-624)gGa>gTa	p.G208V	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.G171V|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGACATGACGGAACAACAGAG	0.383																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(622-624)gGa>gTa		RAB GTPase activating protein 1-like							98.0	93.0	94.0					1																	174210701		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174210701G>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.623G>T	1.37:g.174210701G>T	ENSP00000251507:p.Gly208Val					RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.G171V	p.G208V	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			5	797	+			208			PID.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.623G>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377168	0.82682	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.16897	2.31;2.31;2.31	5.51	5.51	0.81932	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.054588	0.64402	D	0.000001	T	0.42471	0.1204	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.15037	-1.0451	10	0.56958	D	0.05	.	19.4086	0.94658	0.0:0.0:1.0:0.0	.	208;208;171	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	V	171;208;208;208	ENSP00000350027:G171V;ENSP00000251507:G208V;ENSP00000403136:G208V	ENSP00000251507:G208V	G	+	2	0	RABGAP1L	172477324	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.380000	0.73158	2.595000	0.87683	0.563000	0.77884	GGA		0.383	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		42	112	1	0	8.20599e-20	1	1.00387e-19	42	112				
KCNB2	9312	broad.mit.edu	37	8	73848457	73848457	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:73848457C>T	ENST00000523207.1	+	3	1455	c.867C>T	c.(865-867)agC>agT	p.S289S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	289					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CCAACAAGAGCGTGCTGCAGT	0.502																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(865-867)agC>agT		potassium voltage-gated channel, Shab-related subfamily, member 2							100.0	97.0	98.0					8																	73848457		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848457C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.867C>T	8.37:g.73848457C>T							p.S289S	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1455	+	Breast(64;0.137)		289					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.867C>T	CCDS6209.1																																																																																				0.502	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		46	74	0	0	0	1	0	46	74				
FNDC1	84624	broad.mit.edu	37	6	159655423	159655423	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:159655423C>A	ENST00000297267.9	+	11	4079	c.3879C>A	c.(3877-3879)acC>acA	p.T1293T	FNDC1_ENST00000340366.6_Silent_p.T1230T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1293					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)		TCTCCACCACCCCGATGCTGT	0.642																																						ENST00000297267.9																			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.(3877-3879)acC>acA		fibronectin type III domain containing 1							23.0	25.0	25.0					6																	159655423		2049	4140	6189	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159655423C>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.3879C>A	6.37:g.159655423C>A						FNDC1_ENST00000340366.6_Silent_p.T1230T	p.T1293T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	4079	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1293					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.3879C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	0.663	-0.805117	0.02819	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.56	-5.66	0.02451	.	.	.	.	.	T	0.19167	0.0460	.	.	.	0.36579	D	0.873455	.	.	.	.	.	.	T	0.27606	-1.0069	4	.	.	.	-25.211	2.7807	0.05360	0.2047:0.35:0.2836:0.1617	.	.	.	.	T	1189	.	.	P	+	1	0	FNDC1	159575413	0.000000	0.05858	0.468000	0.27192	0.099000	0.18886	-2.571000	0.00913	-1.217000	0.02604	-0.813000	0.03139	CCC		0.642	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		12	25	1	0	1.49906e-05	1	1.59062e-05	12	25				
MUC17	140453	broad.mit.edu	37	7	100678797	100678797	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:100678797C>A	ENST00000306151.4	+	3	4164	c.4100C>A	c.(4099-4101)cCt>cAt	p.P1367H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1367	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAGCACACCTGTGACCACT	0.458																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4099-4101)cCt>cAt		mucin 17, cell surface associated							230.0	235.0	233.0					7																	100678797		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678797C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4100C>A	7.37:g.100678797C>A	ENSP00000302716:p.Pro1367His						p.P1367H	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4164	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1367			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4100C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.725	-0.782227	0.02907	.	.	ENSG00000169876	ENST00000306151	T	0.03330	3.97	0.838	0.838	0.18902	.	.	.	.	.	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	P	0.50156	0.932	P	0.46299	0.511	T	0.48758	-0.9007	9	0.33141	T	0.24	.	5.1494	0.15002	0.0:1.0:0.0:0.0	.	1367	Q685J3	MUC17_HUMAN	H	1367	ENSP00000302716:P1367H	ENSP00000302716:P1367H	P	+	2	0	MUC17	100465517	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.126000	0.15769	0.790000	0.33803	0.134000	0.15878	CCT		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		147	394	1	0	5.68993e-56	1	7.40788e-56	147	394				
FLNB	2317	broad.mit.edu	37	3	58064475	58064475	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:58064475G>C	ENST00000295956.4	+	3	738	c.573G>C	c.(571-573)ccG>ccC	p.P191P	FLNB_ENST00000419752.2_Silent_p.P22P|FLNB_ENST00000429972.2_Silent_p.P191P|FLNB_ENST00000493452.1_Silent_p.P22P|FLNB_ENST00000348383.5_Silent_p.P191P|FLNB_ENST00000358537.3_Silent_p.P191P|FLNB_ENST00000357272.4_Silent_p.P191P|FLNB_ENST00000490882.1_Silent_p.P191P	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	191	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGGACCCGCAGAAGCCTG	0.517																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(571-573)ccG>ccC		filamin B, beta							56.0	52.0	54.0					3																	58064475		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58064475G>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.573G>C	3.37:g.58064475G>C						FLNB_ENST00000490882.1_Silent_p.P191P|FLNB_ENST00000493452.1_Silent_p.P22P|FLNB_ENST00000295956.4_Silent_p.P191P|FLNB_ENST00000358537.3_Silent_p.P191P|FLNB_ENST00000348383.5_Silent_p.P191P|FLNB_ENST00000429972.2_Silent_p.P191P|FLNB_ENST00000419752.2_Silent_p.P22P	p.P191P			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	3	738	+			191			Actin-binding.|CH 2.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.573G>C	CCDS2885.1																																																																																				0.517	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		8	28	0	0	0	1	0	8	28				
GOLGB1	2804	broad.mit.edu	37	3	121415170	121415170	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:121415170A>T	ENST00000340645.5	-	13	4310	c.4185T>A	c.(4183-4185)gaT>gaA	p.D1395E	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D1400E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1395					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGCAGTTCATCCAGTTTAG	0.418																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(4198-4200)gaT>gaA		golgin B1							163.0	168.0	167.0					3																	121415170		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415170A>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4185T>A	3.37:g.121415170A>T	ENSP00000341848:p.Asp1395Glu					GOLGB1_ENST00000340645.5_Missense_Mutation_p.D1395E	p.D1400E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4310	-			1395					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4200T>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	A	6.009	0.369977	0.11352	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.19105	2.72;2.72;2.17	6.17	0.776	0.18532	.	0.276480	0.31461	N	0.007602	T	0.09774	0.0240	L	0.37897	1.145	0.26563	N	0.9737	B;B;B;B;B	0.09022	0.002;0.002;0.001;0.001;0.002	B;B;B;B;B	0.11329	0.006;0.006;0.004;0.004;0.004	T	0.33675	-0.9859	10	0.02654	T	1	.	1.545	0.02563	0.4876:0.238:0.1488:0.1256	.	1320;1359;1400;1400;1395	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	E	1395;1400;1359	ENSP00000341848:D1395E;ENSP00000377275:D1400E;ENSP00000418231:D1359E	ENSP00000341848:D1395E	D	-	3	2	GOLGB1	122897860	0.178000	0.23122	0.916000	0.36221	0.373000	0.29922	0.030000	0.13688	0.175000	0.19841	0.533000	0.62120	GAT		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		108	173	0	0	0	1	0	108	173				
ZNF521	25925	broad.mit.edu	37	18	22807242	22807242	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:22807242A>G	ENST00000361524.3	-	4	788	c.640T>C	c.(640-642)Tct>Cct	p.S214P	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.S214P|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	214					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGGAACTAGAGGACAGAAAC	0.488			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(640-642)Tct>Cct		zinc finger protein 521							95.0	87.0	90.0					18																	22807242		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807242A>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.640T>C	18.37:g.22807242A>G	ENSP00000354794:p.Ser214Pro					ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.S214P	p.S214P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	788	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		214					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.640T>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	8.948	0.967497	0.18659	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10668	2.85;2.85	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054099	0.85682	D	0.000000	T	0.09247	0.0228	N	0.08118	0	0.34081	D	0.659599	P	0.51449	0.945	P	0.50082	0.63	T	0.35475	-0.9787	10	0.32370	T	0.25	-19.9009	11.6893	0.51505	0.868:0.0:0.0:0.132	.	214	Q96K83	ZN521_HUMAN	P	214;248;214	ENSP00000354794:S214P;ENSP00000382352:S214P	ENSP00000354794:S214P	S	-	1	0	ZNF521	21061240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.997000	0.76270	2.333000	0.79357	0.533000	0.62120	TCT		0.488	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		21	46	0	0	0	1	0	21	46				
OPRK1	4986	broad.mit.edu	37	8	54142365	54142365	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:54142365A>T	ENST00000265572.3	-	4	932	c.635T>A	c.(634-636)tTg>tAg	p.L212*	OPRK1_ENST00000520287.1_Nonsense_Mutation_p.L212*|OPRK1_ENST00000524278.1_Nonsense_Mutation_p.L123*|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	212					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGGGAACTGCAAGGAGCACTC	0.458																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(634-636)tTg>tAg		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						52.0	57.0	55.0					8																	54142365		2203	4300	6503	SO:0001587	stop_gained	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142365A>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.635T>A	8.37:g.54142365A>T	ENSP00000265572:p.Leu212*					OPRK1_ENST00000520287.1_Nonsense_Mutation_p.L212*|OPRK1_ENST00000524278.1_Nonsense_Mutation_p.L123*|RP11-162D9.3_ENST00000524425.1_RNA	p.L212*	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			4	932	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	212					E5RHC9|Q499G4	Nonsense_Mutation	SNP	ENST00000265572.3	37	c.635T>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585796	0.86748	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9651	0.79966	1.0:0.0:0.0:0.0	.	.	.	.	X	212;123;212;198	.	ENSP00000265572:L212X	L	-	2	0	OPRK1	54304918	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	9.339000	0.96797	2.175000	0.68902	0.528000	0.53228	TTG		0.458	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			11	34	0	0	0	1	0	11	34				
FSCB	84075	broad.mit.edu	37	14	44973940	44973940	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:44973940C>A	ENST00000340446.4	-	1	2542	c.2251G>T	c.(2251-2253)Gct>Tct	p.A751S	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	751						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A751P(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACCAGAGCCTCATCTTCA	0.468																																						ENST00000340446.4																			1	Substitution - Missense(1)	p.A751P(1)	kidney(1)	breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2251-2253)Gct>Tct		fibrous sheath CABYR binding protein							60.0	64.0	62.0					14																	44973940		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44973940C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2251G>T	14.37:g.44973940C>A	ENSP00000344579:p.Ala751Ser						p.A751S	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2542	-			751					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2251G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077873	0.55753	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14022	2.54	4.49	2.33	0.28932	.	.	.	.	.	T	0.09512	0.0234	L	0.29908	0.895	0.09310	N	1	P	0.40534	0.72	B	0.41036	0.346	T	0.24548	-1.0157	9	0.14656	T	0.56	1.0258	6.2166	0.20658	0.0:0.6885:0.1769:0.1346	.	751	Q5H9T9	FSCB_HUMAN	S	751;644	ENSP00000344579:A751S	ENSP00000344579:A751S	A	-	1	0	FSCB	44043690	0.000000	0.05858	0.007000	0.13788	0.346000	0.29079	-0.338000	0.07842	0.448000	0.26722	0.305000	0.20034	GCT		0.468	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		35	52	1	0	9.04072e-19	1	1.09279e-18	35	52				
ITGB8	3696	broad.mit.edu	37	7	20431047	20431047	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:20431047C>G	ENST00000222573.4	+	7	1666	c.982C>G	c.(982-984)Ctt>Gtt	p.L328V	ITGB8_ENST00000537992.1_Missense_Mutation_p.L193V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	328	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACTAGGCCAACTTTCAGAGAA	0.299																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(982-984)Ctt>Gtt		integrin, beta 8							74.0	72.0	73.0					7																	20431047		2203	4287	6490	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20431047C>G		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.982C>G	7.37:g.20431047C>G	ENSP00000222573:p.Leu328Val					ITGB8_ENST00000537992.1_Missense_Mutation_p.L193V	p.L328V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			7	1666	+			328			VWFA.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.982C>G	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294156	0.60086	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.99220	-5.58;-5.58	5.72	5.72	0.89469	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.64402	D	0.000006	D	0.98667	0.9553	L	0.49640	1.575	0.58432	D	0.999993	B;P	0.42908	0.313;0.793	B;P	0.47673	0.217;0.554	D	0.99153	1.0859	10	0.44086	T	0.13	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	328;328	P26012;Q9BUG9	ITB8_HUMAN;.	V	193;328	ENSP00000441561:L193V;ENSP00000222573:L328V	ENSP00000222573:L328V	L	+	1	0	ITGB8	20397572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.526000	0.53509	2.865000	0.98341	0.655000	0.94253	CTT		0.299	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		23	75	0	0	0	1	0	23	75				
HNRNPUL2	221092	broad.mit.edu	37	11	62489693	62489693	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:62489693C>T	ENST00000301785.5	-	7	1447	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E419K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	419	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGAAGGGCTCCTCCTTCTGA	0.517																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1255-1257)Gag>Aag		heterogeneous nuclear ribonucleoprotein U-like 2							94.0	98.0	97.0					11																	62489693		1984	4157	6141	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62489693C>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1255G>A	11.37:g.62489693C>T	ENSP00000301785:p.Glu419Lys					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E419K	p.E419K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			7	1447	-			419			B30.2/SPRY.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1255G>A	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854570	0.71719	.	.	ENSG00000214753	ENST00000301785	T	0.73152	-0.72	5.65	5.65	0.86999	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.190779	0.44097	D	0.000494	T	0.63260	0.2496	L	0.58810	1.83	0.40226	D	0.977796	P	0.43477	0.808	B	0.35510	0.204	T	0.62973	-0.6740	10	0.11485	T	0.65	-14.7213	17.2626	0.87075	0.0:1.0:0.0:0.0	.	419	Q1KMD3	HNRL2_HUMAN	K	419	ENSP00000301785:E419K	ENSP00000301785:E419K	E	-	1	0	HNRNPUL2	62246269	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.028000	0.49705	2.941000	0.99782	0.655000	0.94253	GAG		0.517	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		60	97	0	0	0	1	0	60	97				
PPIAL4G	644591	broad.mit.edu	37	1	143767779	143767779	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:143767779G>C	ENST00000419275.1	-	1	102	c.70C>G	c.(70-72)Cag>Gag	p.Q24E		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	24	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.			Q -> L (in Ref. 2; AAI30379/AAI30377). {ECO:0000305}.	protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TCTGCAAACTGTTTGATGGAG	0.483																																						ENST00000419275.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						c.(70-72)Cag>Gag		peptidylprolyl isomerase A (cyclophilin A)-like 4G							157.0	146.0	149.0					1																	143767779		1568	3579	5147	SO:0001583	missense	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767779G>C		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.70C>G	1.37:g.143767779G>C	ENSP00000393845:p.Gln24Glu						p.Q24E	NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN			1	102	-			24	Q -> L (in Ref. 2; AAI30379/AAI30377).		PPIase cyclophilin-type.		A1L431	Missense_Mutation	SNP	ENST00000419275.1	37	c.70C>G	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	9.710	1.156910	0.21454	.	.	ENSG00000236334	ENST00000419275	T	0.41400	1.0	0.523	0.523	0.17060	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.64402	U	0.000005	T	0.08088	0.0202	N	0.08118	0	0.19775	N	0.999951	B	0.12013	0.005	B	0.15052	0.012	T	0.29488	-1.0010	9	0.87932	D	0	.	.	.	.	.	24	A2BFH1	PAL4G_HUMAN	E	24	ENSP00000393845:Q24E	ENSP00000393845:Q24E	Q	-	1	0	PPIAL4G	142559302	0.831000	0.29352	0.346000	0.25655	0.137000	0.21094	0.800000	0.27042	0.587000	0.29643	0.403000	0.27427	CAG		0.483	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		51	553	0	0	0	1	0	51	553				
KCTD16	57528	broad.mit.edu	37	5	143586285	143586285	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:143586285T>C	ENST00000507359.3	+	2	1099	c.8T>C	c.(7-9)cTg>cCg	p.L3P	KCTD16_ENST00000512467.1_Missense_Mutation_p.L3P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	3					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ACAATGGCTCTGAGTGGAAAC	0.458																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(7-9)cTg>cCg		potassium channel tetramerization domain containing 16							79.0	79.0	79.0					5																	143586285		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586285T>C	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.8T>C	5.37:g.143586285T>C	ENSP00000426548:p.Leu3Pro					KCTD16_ENST00000512467.1_Missense_Mutation_p.L3P	p.L3P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1099	+		all_hematologic(541;0.118)	3					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.8T>C	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.533819	0.64972	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.53423	0.62;0.62	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000007	T	0.67739	0.2925	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.72074	-0.4400	10	0.87932	D	0	.	15.2072	0.73190	0.0:0.0:0.0:1.0	.	3	Q68DU8	KCD16_HUMAN	P	3	ENSP00000424151:L3P;ENSP00000426548:L3P	ENSP00000426548:L3P	L	+	2	0	KCTD16	143566478	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.649000	0.83500	1.987000	0.57996	0.459000	0.35465	CTG		0.458	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		18	51	0	0	0	1	0	18	51				
PROK2	60675	broad.mit.edu	37	3	71830630	71830630	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:71830630T>A	ENST00000295619.3	-	2	218	c.210A>T	c.(208-210)ccA>ccT	p.P70P	PROK2_ENST00000353065.3_Silent_p.P70P	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	70					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of smooth muscle contraction (GO:0045987)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	G-protein coupled receptor binding (GO:0001664)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		TACGAGTCAGTGGATGGCAGC	0.468																																						ENST00000353065.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(208-210)ccA>ccT		prokineticin 2							114.0	106.0	109.0					3																	71830630		2203	4300	6503	SO:0001819	synonymous_variant	60675				activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding	g.chr3:71830630T>A	AF333025	CCDS2916.1, CCDS46868.1	3p21.1	2013-02-28			ENSG00000163421	ENSG00000163421		"""Endogenous ligands"""	18455	protein-coding gene	gene with protein product	"""protein Bv8 homolog"""	607002				11054548, 11259612	Standard	NM_021935		Approved	PK2, BV8, MIT1, KAL4	uc003dpa.4	Q9HC23	OTTHUMG00000158809	ENST00000295619.3:c.210A>T	3.37:g.71830630T>A						PROK2_ENST00000295619.3_Silent_p.P70P	p.P70P	NM_021935.3	NP_068754.1	Q9HC23	PROK2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)	2	363	-		Prostate(10;0.00899)	70					Q53Z79|Q6ISR0	Silent	SNP	ENST00000295619.3	37	c.210A>T	CCDS46868.1																																																																																				0.468	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352302.1	NM_001126128		24	100	0	0	0	1	0	24	100				
SYBU	55638	broad.mit.edu	37	8	110587665	110587665	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:110587665C>T	ENST00000422135.1	-	8	1977	c.1462G>A	c.(1462-1464)Gtt>Att	p.V488I	SYBU_ENST00000433638.1_Missense_Mutation_p.V488I|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000532779.1_Missense_Mutation_p.V420I|SYBU_ENST00000276646.9_Missense_Mutation_p.V488I|SYBU_ENST00000533065.1_Missense_Mutation_p.V369I|SYBU_ENST00000440310.1_Missense_Mutation_p.V488I|SYBU_ENST00000533895.1_Missense_Mutation_p.V487I|SYBU_ENST00000528331.1_Missense_Mutation_p.V369I|SYBU_ENST00000419099.1_Missense_Mutation_p.V487I|SYBU_ENST00000399066.3_Missense_Mutation_p.V485I|SYBU_ENST00000408908.2_Missense_Mutation_p.V488I|SYBU_ENST00000529175.1_Missense_Mutation_p.V282I|SYBU_ENST00000408889.3_Missense_Mutation_p.V369I|SYBU_ENST00000528647.1_Missense_Mutation_p.V487I|SYBU_ENST00000446070.2_Missense_Mutation_p.V487I|SYBU_ENST00000533171.1_Missense_Mutation_p.V488I|SYBU_ENST00000529690.1_Missense_Mutation_p.V358I|SYBU_ENST00000424158.2_Missense_Mutation_p.V493I	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	488					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCGGTCTGAACGGCTCGCTCC	0.627																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(1453-1455)Gtt>Att		syntabulin (syntaxin-interacting)							74.0	78.0	77.0					8																	110587665		2142	4236	6378	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587665C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1462G>A	8.37:g.110587665C>T	ENSP00000407118:p.Val488Ile					SYBU_ENST00000529175.1_Missense_Mutation_p.V282I|SYBU_ENST00000419099.1_Missense_Mutation_p.V487I|SYBU_ENST00000446070.2_Missense_Mutation_p.V487I|SYBU_ENST00000533065.1_Missense_Mutation_p.V369I|SYBU_ENST00000533895.1_Missense_Mutation_p.V487I|SYBU_ENST00000528331.1_Missense_Mutation_p.V369I|SYBU_ENST00000408908.2_Missense_Mutation_p.V488I|SYBU_ENST00000433638.1_Missense_Mutation_p.V488I|SYBU_ENST00000424158.2_Missense_Mutation_p.V493I|SYBU_ENST00000408889.3_Missense_Mutation_p.V369I|SYBU_ENST00000422135.1_Missense_Mutation_p.V488I|SYBU_ENST00000532779.1_Missense_Mutation_p.V420I|SYBU_ENST00000440310.1_Missense_Mutation_p.V488I|SYBU_ENST00000276646.9_Missense_Mutation_p.V488I|SYBU_ENST00000533171.1_Missense_Mutation_p.V488I|SYBU_ENST00000528647.1_Missense_Mutation_p.V487I|SYBU_ENST00000529690.1_Missense_Mutation_p.V358I	p.V485I	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			6	2180	-			488					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1453G>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.543097	0.00142	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	6.08	3.98	0.46160	.	0.293218	0.39341	N	0.001398	T	0.24509	0.0594	L	0.28458	0.855	0.09310	N	1	B;B;B;B;B	0.27416	0.048;0.023;0.042;0.178;0.178	B;B;B;B;B	0.20384	0.029;0.011;0.013;0.025;0.025	T	0.16837	-1.0389	9	0.06625	T	0.88	-25.2789	10.0633	0.42288	0.0:0.7268:0.0:0.2732	.	358;420;487;488;485	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	I	487;493;420;485;487;369;282;488;487;488;487;488;488;488;369;369;358;488	.	ENSP00000276646:V488I	V	-	1	0	SYBU	110656841	0.578000	0.26717	0.491000	0.27477	0.012000	0.07955	0.670000	0.25157	1.585000	0.49928	0.655000	0.94253	GTT		0.627	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		11	64	0	0	0	1	0	11	64				
GTF3C1	2975	broad.mit.edu	37	16	27549199	27549199	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:27549199C>T	ENST00000356183.4	-	4	673	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G220R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	220					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTAATCAGCCCGTTTTTGTTC	0.463																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(658-660)Ggg>Agg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							126.0	123.0	124.0					16																	27549199		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27549199C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.658G>A	16.37:g.27549199C>T	ENSP00000348510:p.Gly220Arg					GTF3C1_ENST00000561623.1_Missense_Mutation_p.G220R	p.G220R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			4	673	-			220					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.658G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983731	0.35036	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27256	1.68	5.82	2.57	0.30868	.	0.116440	0.64402	N	0.000015	T	0.25938	0.0632	L	0.47716	1.5	0.38602	D	0.950682	D;P	0.54601	0.967;0.685	P;B	0.46110	0.504;0.182	T	0.11446	-1.0587	10	0.72032	D	0.01	-6.144	10.3977	0.44211	0.0:0.7725:0.0:0.2275	.	220;220	Q12789;Q12789-3	TF3C1_HUMAN;.	R	220;218	ENSP00000348510:G220R	ENSP00000348510:G220R	G	-	1	0	GTF3C1	27456700	0.976000	0.34144	0.672000	0.29872	0.239000	0.25481	2.439000	0.44846	0.685000	0.31468	-0.136000	0.14681	GGG		0.463	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		27	108	0	0	0	1	0	27	108				
IRAK3	11213	broad.mit.edu	37	12	66641592	66641592	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:66641592C>T	ENST00000261233.4	+	12	1853	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	IRAK3_ENST00000457197.2_Missense_Mutation_p.P417S	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACCAAGTATTCCAGTGGAAGA	0.423																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1432-1434)Cca>Tca		interleukin-1 receptor-associated kinase 3							124.0	114.0	117.0					12																	66641592		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641592C>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1432C>T	12.37:g.66641592C>T	ENSP00000261233:p.Pro478Ser					IRAK3_ENST00000457197.2_Missense_Mutation_p.P417S	p.P478S	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	1853	+			478						Missense_Mutation	SNP	ENST00000261233.4	37	c.1432C>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280320	0.80692	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.73152	-0.7;-0.72	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77458	0.4133	L	0.36672	1.1	0.41578	D	0.988723	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.75271	-0.3376	9	.	.	.	-15.7165	15.4984	0.75677	0.0:1.0:0.0:0.0	.	417;478	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	S	478;417	ENSP00000261233:P478S;ENSP00000409852:P417S	.	P	+	1	0	IRAK3	64927859	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.854000	0.55949	2.724000	0.93272	0.561000	0.74099	CCA		0.423	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			21	86	0	0	0	1	0	21	86				
ZNF341	84905	broad.mit.edu	37	20	32378850	32378850	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:32378850C>T	ENST00000375200.1	+	15	2457	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	ZNF341_ENST00000342427.2_Missense_Mutation_p.L691F|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	698					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)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCGTGCCCACCTCGCCGAGCA	0.602																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(2092-2094)Ctc>Ttc		zinc finger protein 341							36.0	35.0	35.0					20																	32378850		2203	4298	6501	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32378850C>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2092C>T	20.37:g.32378850C>T	ENSP00000364346:p.Leu698Phe					RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.L691F|RP4-553F4.6_ENST00000443171.1_RNA	p.L698F			Q9BYN7	ZN341_HUMAN			15	2457	+			698					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.2092C>T		.	.	.	.	.	.	.	.	.	.	C	19.36	3.813345	0.70912	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.70749	-0.51;-0.51	4.53	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.122380	0.49305	D	0.000146	T	0.73666	0.3616	M	0.83774	2.66	0.31157	N	0.70481	P;D;P;P	0.54772	0.934;0.968;0.934;0.919	P;P;P;B	0.49999	0.541;0.628;0.541;0.406	T	0.76149	-0.3065	10	0.62326	D	0.03	-19.1832	3.8034	0.08767	0.3016:0.4914:0.1224:0.0845	.	639;550;698;691	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	F	691;698	ENSP00000344308:L691F;ENSP00000364346:L698F	ENSP00000344308:L691F	L	+	1	0	ZNF341	31842511	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	3.302000	0.51849	1.005000	0.39183	0.561000	0.74099	CTC		0.602	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				4	72	0	0	0	1	0	4	72				
SPANXD	64648	broad.mit.edu	37	X	140785837	140785837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:140785837C>A	ENST00000370515.3	-	2	412	c.79G>T	c.(79-81)Gag>Tag	p.E27*		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	27						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CTCGAGGTCTCCGGCATCTGT	0.483																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(79-81)Gag>Tag		SPANX family, member D							156.0	113.0	128.0					X																	140785837		2198	4254	6452	SO:0001587	stop_gained	64648							g.chrX:140785837C>A	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.79G>T	X.37:g.140785837C>A	ENSP00000359546:p.Glu27*						p.E27*	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	412	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Nonsense_Mutation	SNP	ENST00000370515.3	37	c.79G>T	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	14.33	2.503560	0.44558	.	.	ENSG00000196406	ENST00000370515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	.	.	.	.	.	.	.	X	27	.	ENSP00000359546:E27X	E	-	1	0	SPANXD	140613503	0.004000	0.15560	0.015000	0.15790	0.046000	0.14306	0.096000	0.15147	-0.559000	0.06110	0.068000	0.15388	GAG		0.483	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			67	321	1	0	3.94839e-29	1	5.04332e-29	67	321				
YBEY	54059	broad.mit.edu	37	21	47716087	47716087	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:47716087C>T	ENST00000329319.3	+	4	749	c.351C>T	c.(349-351)acC>acT	p.T117T	YBEY_ENST00000397694.1_Silent_p.T72T|YBEY_ENST00000397701.4_Silent_p.T117T|YBEY_ENST00000397691.1_Silent_p.T117T|YBEY_ENST00000397692.1_Silent_p.T29T|YBEY_ENST00000339195.6_Silent_p.T74T	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	117					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TGACGGCCACCCACGGACTCT	0.622																																						ENST00000329319.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						c.(349-351)acC>acT		ybeY metallopeptidase (putative)							74.0	66.0	69.0					21																	47716087		2203	4300	6503	SO:0001819	synonymous_variant	54059						metal ion binding|metalloendopeptidase activity	g.chr21:47716087C>T	AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.351C>T	21.37:g.47716087C>T						YBEY_ENST00000397694.1_Silent_p.T72T|YBEY_ENST00000339195.6_Silent_p.T74T|YBEY_ENST00000397692.1_Silent_p.T29T|YBEY_ENST00000397701.4_Silent_p.T117T|YBEY_ENST00000397691.1_Silent_p.T117T	p.T117T	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN			4	749	+			117					B7WPA9|B7WPF7|D3DSN2	Silent	SNP	ENST00000329319.3	37	c.351C>T	CCDS33591.1																																																																																				0.622	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207265.1	NM_058181		11	69	0	0	0	1	0	11	69				
KIAA1328	57536	broad.mit.edu	37	18	34647275	34647275	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:34647275A>G	ENST00000280020.5	+	7	1021	c.999A>G	c.(997-999)gaA>gaG	p.E333E	KIAA1328_ENST00000586501.1_Silent_p.E49E|KIAA1328_ENST00000543923.1_Silent_p.E225E|KIAA1328_ENST00000586135.1_Silent_p.E49E|KIAA1328_ENST00000591619.1_Silent_p.E329E|KIAA1328_ENST00000435985.2_Silent_p.E49E	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	333										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CACATCCAGAATCATGCAGTT	0.463																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(985-987)gaA>gaG		KIAA1328							104.0	100.0	101.0					18																	34647275		2066	4209	6275	SO:0001819	synonymous_variant	57536							g.chr18:34647275A>G	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.999A>G	18.37:g.34647275A>G						KIAA1328_ENST00000586135.1_Silent_p.E49E|KIAA1328_ENST00000280020.5_Silent_p.E333E|KIAA1328_ENST00000543923.1_Silent_p.E225E|KIAA1328_ENST00000435985.2_Silent_p.E49E|KIAA1328_ENST00000586501.1_Silent_p.E49E	p.E329E			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	7	1773	+			333					Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	37	c.987A>G	CCDS45855.1																																																																																				0.463	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		18	29	0	0	0	1	0	18	29				
MYO7B	4648	broad.mit.edu	37	2	128331592	128331592	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:128331592G>C	ENST00000409816.2	+	6	722	c.690G>C	c.(688-690)gcG>gcC	p.A230A	MYO7B_ENST00000428314.1_Silent_p.A230A|MYO7B_ENST00000389524.4_Silent_p.A230A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	230	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCGAGGGCGCGCGCATCGAGC	0.582																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(688-690)gcG>gcC		myosin VIIB							86.0	97.0	94.0					2																	128331592		1926	4134	6060	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128331592G>C		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.690G>C	2.37:g.128331592G>C						MYO7B_ENST00000409816.2_Silent_p.A230A|MYO7B_ENST00000428314.1_Silent_p.A230A	p.A230A			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	7	743	+	Colorectal(110;0.1)		230			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.690G>C	CCDS46405.1																																																																																				0.582	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		27	110	0	0	0	1	0	27	110				
APRT	353	broad.mit.edu	37	16	88876924	88876924	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:88876924G>A	ENST00000378364.3	-	3	272	c.228C>T	c.(226-228)gcC>gcT	p.A76A	APRT_ENST00000563655.1_Intron|APRT_ENST00000426324.2_Silent_p.A76A	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	76					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAAGCTCCTGGGCCAGGGAGG	0.637																																						ENST00000378364.3																			0				cervix(1)|endometrium(1)|liver(1)	3						c.(226-228)gcC>gcT		adenine phosphoribosyltransferase	Adenine(DB00173)|Adenosine monophosphate(DB00131)						19.0	21.0	21.0					16																	88876924		2195	4293	6488	SO:0001819	synonymous_variant	353				purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding	g.chr16:88876924G>A		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.228C>T	16.37:g.88876924G>A						APRT_ENST00000426324.2_Silent_p.A76A|APRT_ENST00000563655.1_Intron	p.A76A	NM_000485.2	NP_000476.1	P07741	APT_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	272	-			76					G5E9J2|Q3KP55|Q68DF9	Silent	SNP	ENST00000378364.3	37	c.228C>T	CCDS32511.1																																																																																				0.637	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		6	32	0	0	0	1	0	6	32				
LPHN3	23284	broad.mit.edu	37	4	62845314	62845314	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:62845314G>T	ENST00000514591.1	+	17	2964	c.2635G>T	c.(2635-2637)Gtg>Ttg	p.V879L	LPHN3_ENST00000504896.1_Missense_Mutation_p.V879L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V947L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V879L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V879L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V947L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V947L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V947L|LPHN3_ENST00000512091.2_Missense_Mutation_p.V879L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V947L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V947L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V879L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	866					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.V879L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTTCTGGATGTGATCACGTG	0.448																																						ENST00000512091.1																			3	Substitution - Missense(3)	p.V879L(3)	lung(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2635-2637)Gtg>Ttg		latrophilin 3							306.0	299.0	301.0					4																	62845314		1984	4175	6159	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845314G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2635G>T	4.37:g.62845314G>T	ENSP00000422533:p.Val879Leu					LPHN3_ENST00000506700.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V947L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V947L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V947L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V947L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V947L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V879L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V879L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V879L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V879L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V879L	p.V879L			Q9HAR2	LPHN3_HUMAN			17	3382	+			866					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2635G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.97|16.97	3.268267|3.268267	0.59540|0.59540	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.37915	.|1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.5|5.5	5.5|5.5	0.81552|0.81552	.|GPCR, family 2-like (1);	.|0.066682	.|0.64402	.|D	.|0.000015	T|T	0.35128|0.35128	0.0921|0.0921	L|L	0.47016|0.47016	1.485|1.485	0.54753|0.54753	D|D	0.999988|0.999988	.|B;B;B	.|0.27286	.|0.174;0.174;0.144	.|B;B;B	.|0.27796	.|0.083;0.083;0.081	T|T	0.15607|0.15607	-1.0431|-1.0431	5|10	.|0.62326	.|D	.|0.03	.|.	14.9756|14.9756	0.71269|0.71269	0.0:0.0:0.8568:0.1432|0.0:0.0:0.8568:0.1432	.|.	.|879;866;879	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	F|L	336|879;879;947;947;879;879;866;879;947;947;947;879;879;879;947;947;879	.|ENSP00000423388:V879L;ENSP00000422533:V879L;ENSP00000423787:V947L;ENSP00000425033:V947L;ENSP00000424120:V879L;ENSP00000439831:V879L;ENSP00000421476:V947L;ENSP00000424030:V947L;ENSP00000421372:V947L;ENSP00000425201:V879L;ENSP00000423434:V879L;ENSP00000421627:V879L;ENSP00000420931:V947L;ENSP00000425884:V947L;ENSP00000424258:V879L	.|ENSP00000280009:V879L	C|V	+|+	2|1	0|0	LPHN3|LPHN3	62527909|62527909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.552000|6.552000	0.73914|0.73914	2.580000|2.580000	0.87095|0.87095	0.467000|0.467000	0.42956|0.42956	TGT|GTG		0.448	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			67	174	1	0	5.05157e-50	1	6.56272e-50	67	174				
RIMBP2	23504	broad.mit.edu	37	12	130963555	130963555	+	Silent	SNP	G	G	T	rs138967663		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:130963555G>T	ENST00000261655.4	-	3	167	c.4C>A	c.(4-6)Cga>Aga	p.R2R	RIMBP2_ENST00000535703.1_5'UTR|RIMBP2_ENST00000536002.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	2					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCGCCTCTCGCATATGCTGT	0.617																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(4-6)Cga>Aga		RIMS binding protein 2							34.0	34.0	34.0					12																	130963555		2202	4299	6501	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130963555G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.4C>A	12.37:g.130963555G>T						RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	p.R2R	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	3	167	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	2					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.4C>A	CCDS31925.1																																																																																				0.617	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		19	48	1	0	1.96292e-10	1	2.18582e-10	19	48				
OR1A2	26189	broad.mit.edu	37	17	3101525	3101525	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:3101525G>C	ENST00000381951.1	+	1	713	c.713G>C	c.(712-714)tGc>tCc	p.C238S		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	238					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AAAGCCTTCTGCACCTGTGGC	0.443																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(712-714)tGc>tCc		olfactory receptor, family 1, subfamily A, member 2							134.0	128.0	130.0					17																	3101525		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101525G>C	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.713G>C	17.37:g.3101525G>C	ENSP00000371377:p.Cys238Ser						p.C238S	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	713	+			238					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.713G>C	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.693557	0.00098	.	.	ENSG00000172150	ENST00000381951	T	0.00011	9.35	3.9	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	N	0.000169	T	0.00012	0.0000	N	0.00000	-4.335	0.21147	N	0.999771	B	0.02656	0.0	B	0.01281	0.0	T	0.53457	-0.8436	10	0.02654	T	1	.	12.4964	0.55931	0.0:0.8276:0.1724:0.0	.	238	Q9Y585	OR1A2_HUMAN	S	238	ENSP00000371377:C238S	ENSP00000371377:C238S	C	+	2	0	OR1A2	3048275	0.000000	0.05858	0.998000	0.56505	0.041000	0.13682	0.484000	0.22308	0.988000	0.38734	-0.268000	0.10319	TGC		0.443	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		56	172	0	0	0	1	0	56	172				
ADAMTS12	81792	broad.mit.edu	37	5	33596097	33596097	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:33596097G>A	ENST00000504830.1	-	17	2931	c.2596C>T	c.(2596-2598)Cca>Tca	p.P866S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P781S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	866	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTGTTTCTGGGTCACAGAAT	0.517										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2596-2598)Cca>Tca		ADAM metallopeptidase with thrombospondin type 1 motif, 12							226.0	192.0	204.0					5																	33596097		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33596097G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2596C>T	5.37:g.33596097G>A	ENSP00000422554:p.Pro866Ser	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P781S|ADAMTS12_ENST00000504582.1_5'UTR	p.P866S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			17	2931	-			866			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2596C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423290	0.83559	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.51071	0.72;0.72	5.77	5.77	0.91146	.	0.153165	0.64402	D	0.000012	T	0.57902	0.2085	L	0.58669	1.825	0.80722	D	1	D;P	0.65815	0.995;0.947	P;P	0.61940	0.896;0.867	T	0.49960	-0.8883	10	0.07175	T	0.84	.	15.1161	0.72404	0.0:0.0:0.8585:0.1415	.	781;866	P58397-3;P58397	.;ATS12_HUMAN	S	866;781	ENSP00000422554:P866S;ENSP00000344847:P781S	ENSP00000344847:P781S	P	-	1	0	ADAMTS12	33631854	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.593000	0.61034	2.890000	0.99128	0.585000	0.79938	CCA		0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		28	171	0	0	0	1	0	28	171				
USP3	9960	broad.mit.edu	37	15	63882861	63882861	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:63882861G>A	ENST00000380324.3	+	15	1528	c.1399G>A	c.(1399-1401)Gtt>Att	p.V467I	USP3_ENST00000558218.1_3'UTR|USP3_ENST00000268049.7_Splice_Site_p.V445I|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000540797.1_Splice_Site_p.V423I|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000558285.1_Splice_Site_p.V450I|USP3_ENST00000559711.1_Splice_Site_p.V378I|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3_ENST00000539772.1_Splice_Site_p.V218I|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560962.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	467	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CCTTTACAGGGTTGGTTCTGG	0.388																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.e16-1		ubiquitin specific peptidase 3							114.0	108.0	110.0					15																	63882861		2203	4300	6503	SO:0001630	splice_region_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63882861G>A	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1398-1G>A	15.37:g.63882861G>A						USP3_ENST00000558285.1_Splice_Site_p.V450_splice|USP3_ENST00000540797.1_Splice_Site_p.V423_splice|USP3_ENST00000539772.1_Splice_Site_p.V218_splice|USP3_ENST00000380324.3_Splice_Site_p.V467_splice|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000559711.1_Splice_Site_p.V378_splice|USP3-AS1_ENST00000559861.1_RNA	p.V445_splice			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	16	1657	+			467					B4DVU5|F5H1A6|Q8WVD0	Splice_Site	SNP	ENST00000380324.3	37	c.1331_splice	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195838	0.58126	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000538686	T;T;T;T	0.02837	4.14;4.14;4.14;4.14	6.07	6.07	0.98685	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.052512	0.85682	D	0.000000	T	0.03178	0.0093	N	0.16790	0.44	0.54753	D	0.999983	B;B;B;B	0.22800	0.061;0.075;0.075;0.075	B;B;B;B	0.25759	0.022;0.037;0.063;0.037	T	0.60622	-0.7227	10	0.18710	T	0.47	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	423;423;445;467	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	I	423;467;445;218;298	ENSP00000445828:V423I;ENSP00000369681:V467I;ENSP00000268049:V445I;ENSP00000445642:V218I	ENSP00000268049:V445I	V	+	1	0	USP3	61669914	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.949000	0.87791	2.884000	0.98904	0.655000	0.94253	GTT		0.388	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1		Missense_Mutation	31	106	0	0	0	1	0	31	106				
CNTNAP5	129684	broad.mit.edu	37	2	125660538	125660538	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:125660538C>G	ENST00000431078.1	+	22	3877	c.3513C>G	c.(3511-3513)aaC>aaG	p.N1171K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1171	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCAGTACAACCACATAGCAC	0.502																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3511-3513)aaC>aaG		contactin associated protein-like 5							69.0	70.0	69.0					2																	125660538		2097	4238	6335	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660538C>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3513C>G	2.37:g.125660538C>G	ENSP00000399013:p.Asn1171Lys						p.N1171K	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	22	3877	+			1171			Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3513C>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082532	0.36758	.	.	ENSG00000155052	ENST00000431078	D	0.88586	-2.4	5.5	2.29	0.28610	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.52532	D	0.000063	D	0.93996	0.8077	M	0.89904	3.07	0.46478	D	0.999069	D	0.89917	1.0	D	0.87578	0.998	D	0.92292	0.5842	10	0.87932	D	0	.	6.9304	0.24437	0.0:0.5137:0.0:0.4863	.	1171	Q8WYK1	CNTP5_HUMAN	K	1171	ENSP00000399013:N1171K	ENSP00000399013:N1171K	N	+	3	2	CNTNAP5	125377008	0.994000	0.37717	0.976000	0.42696	0.031000	0.12232	0.152000	0.16302	0.493000	0.27837	0.655000	0.94253	AAC		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			13	34	0	0	0	1	0	13	34				
PJA1	64219	broad.mit.edu	37	X	68381193	68381193	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:68381193C>T	ENST00000361478.1	-	2	2266	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	PJA1_ENST00000374584.3_Missense_Mutation_p.G442D|PJA1_ENST00000374583.1_Missense_Mutation_p.G630D|PJA1_ENST00000374571.4_Missense_Mutation_p.G575D|PJA1_ENST00000477231.1_5'Flank	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	630					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G630D(1)|p.G442D(1)|p.G442V(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGGGCAGGTGCCTGACTTCTG	0.537																																						ENST00000361478.1																			3	Substitution - Missense(3)	p.G630D(1)|p.G442D(1)|p.G442V(1)	large_intestine(2)|ovary(1)	endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(1888-1890)gGc>gAc		praja ring finger 1, E3 ubiquitin protein ligase							51.0	41.0	44.0					X																	68381193		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381193C>T	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1889G>A	X.37:g.68381193C>T	ENSP00000355014:p.Gly630Asp					PJA1_ENST00000374571.4_Missense_Mutation_p.G575D|PJA1_ENST00000374583.1_Missense_Mutation_p.G630D|PJA1_ENST00000374584.3_Missense_Mutation_p.G442D	p.G630D	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	2266	-			630					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1889G>A	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950458	0.34377	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	3.68	3.68	0.42216	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.132235	0.33127	U	0.005257	T	0.66117	0.2757	N	0.12637	0.245	0.46678	D	0.999158	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.71407	-0.4602	10	0.62326	D	0.03	-12.9359	12.5562	0.56254	0.0:1.0:0.0:0.0	.	630;442	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	D	545;442;630;630;575	ENSP00000363712:G442D;ENSP00000363711:G630D;ENSP00000355014:G630D;ENSP00000363699:G575D	ENSP00000355014:G630D	G	-	2	0	PJA1	68297918	1.000000	0.71417	0.995000	0.50966	0.011000	0.07611	4.683000	0.61679	2.115000	0.64714	0.544000	0.68410	GGC		0.537	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		8	21	0	0	0	1	0	8	21				
DNAH5	1767	broad.mit.edu	37	5	13900339	13900339	+	Nonsense_Mutation	SNP	G	G	C	rs139916610	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:13900339G>C	ENST00000265104.4	-	15	2339	c.2235C>G	c.(2233-2235)taC>taG	p.Y745*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	745	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTTCCTTTTGTATCTATCTC	0.388									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(2233-2235)taC>taG		dynein, axonemal, heavy chain 5							78.0	83.0	82.0					5																	13900339		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13900339G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2235C>G	5.37:g.13900339G>C	ENSP00000265104:p.Tyr745*						p.Y745*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			15	2339	-	Lung NSC(4;0.00476)		745			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.2235C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	41	8.736639	0.98935	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.51	4.64	0.57946	.	0.268791	0.38272	N	0.001744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	12.4344	0.55590	0.1408:0.0:0.8592:0.0	.	.	.	.	X	745	.	ENSP00000265104:Y745X	Y	-	3	2	DNAH5	13953339	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	1.879000	0.39618	1.323000	0.45263	0.655000	0.94253	TAC		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		25	97	0	0	0	1	0	25	97				
RSPO3	84870	broad.mit.edu	37	6	127476453	127476453	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:127476453C>T	ENST00000356698.4	+	4	1093	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RSPO3_ENST00000368317.3_Silent_p.F168F	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	168	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CATGTGGCTTCAAAAGAGGGA	0.468																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(502-504)ttC>ttT		R-spondin 3							179.0	173.0	175.0					6																	127476453		2203	4300	6503	SO:0001819	synonymous_variant	84870					extracellular region	heparin binding	g.chr6:127476453C>T	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.504C>T	6.37:g.127476453C>T						RSPO3_ENST00000368317.3_Silent_p.F168F	p.F168F	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	4	1093	+			168			TSP type-1.		B2RC27|Q5VTV4|Q96K87	Silent	SNP	ENST00000356698.4	37	c.504C>T	CCDS5135.1																																																																																				0.468	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		68	116	0	0	0	1	0	68	116				
HAO1	54363	broad.mit.edu	37	20	7866474	7866474	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:7866474C>A	ENST00000378789.3	-	6	902	c.851G>T	c.(850-852)gGg>gTg	p.G284V		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	284	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTCCACCTTCCCTTCCACAGC	0.483																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(850-852)gGg>gTg		hydroxyacid oxidase (glycolate oxidase) 1							105.0	105.0	105.0					20																	7866474		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7866474C>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.851G>T	20.37:g.7866474C>A	ENSP00000368066:p.Gly284Val						p.G284V	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			6	902	-			284			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.851G>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779542	0.90195	.	.	ENSG00000101323	ENST00000378789	T	0.35421	1.31	5.94	5.94	0.96194	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	H	0.94808	3.585	0.80722	D	1	P;P	0.41366	0.747;0.747	P;P	0.60345	0.873;0.873	T	0.76898	-0.2789	10	0.72032	D	0.01	-23.5003	20.3523	0.98815	0.0:1.0:0.0:0.0	.	284;284	A8K058;Q9UJM8	.;HAOX1_HUMAN	V	284	ENSP00000368066:G284V	ENSP00000368066:G284V	G	-	2	0	HAO1	7814474	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.640000	0.61368	2.821000	0.97095	0.484000	0.47621	GGG		0.483	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			43	79	1	0	3.4345e-17	1	4.08645e-17	43	79				
CSMD3	114788	broad.mit.edu	37	8	113259258	113259258	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:113259258C>T	ENST00000297405.5	-	64	10457	c.10213G>A	c.(10213-10215)Gaa>Aaa	p.E3405K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E3365K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3236K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E3335K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3405	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGTATGCATTCAGGCTGAATC	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10213-10215)Gaa>Aaa		CUB and Sushi multiple domains 3							118.0	100.0	106.0					8																	113259258		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113259258C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10213G>A	8.37:g.113259258C>T	ENSP00000297405:p.Glu3405Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.E3335K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3365K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3236K	p.E3405K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			64	10457	-			3405			Sushi 27.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10213G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572776	0.65765	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.8	4.8	0.61643	Complement control module (2);Sushi/SCR/CCP (3);	0.446950	0.22037	N	0.065505	T	0.66499	0.2795	L	0.38175	1.15	0.50632	D	0.999887	P;P;D	0.63046	0.532;0.722;0.992	B;B;D	0.63703	0.228;0.338;0.917	T	0.57923	-0.7727	10	0.06236	T	0.91	.	18.3838	0.90459	0.0:1.0:0.0:0.0	.	3236;3405;3365	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3365;3405;2675;3236;3335	ENSP00000345799:E3365K;ENSP00000297405:E3405K;ENSP00000341558:E2675K;ENSP00000412263:E3236K;ENSP00000343124:E3335K	ENSP00000297405:E3405K	E	-	1	0	CSMD3	113328434	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	5.838000	0.69388	2.653000	0.90120	0.467000	0.42956	GAA		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	30	0	0	0	1	0	6	30				
GRM5	2915	broad.mit.edu	37	11	88780522	88780522	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:88780522T>A	ENST00000305447.4	-	1	668	c.519A>T	c.(517-519)tcA>tcT	p.S173S	GRM5_ENST00000455756.2_Silent_p.S173S|GRM5_ENST00000305432.5_Silent_p.S173S|GRM5_ENST00000393297.1_Silent_p.S173S|GRM5_ENST00000393294.3_Silent_p.S173S|GRM5_ENST00000418177.2_Silent_p.S173S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	173	Glutamate binding.				activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TGCTGGTTGCTGAGTAAGCAA	0.488																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(517-519)tcA>tcT		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						74.0	64.0	68.0					11																	88780522		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780522T>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.519A>T	11.37:g.88780522T>A						GRM5_ENST00000393297.1_Silent_p.S173S|GRM5_ENST00000305432.5_Silent_p.S173S|GRM5_ENST00000305447.4_Silent_p.S173S|GRM5_ENST00000393294.3_Silent_p.S173S|GRM5_ENST00000455756.2_Silent_p.S173S	p.S173S			P41594	GRM5_HUMAN			2	886	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	173					Q6J164	Silent	SNP	ENST00000305447.4	37	c.519A>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	6.768	0.510530	0.12883	.	.	ENSG00000168959	ENST00000449371	.	.	.	5.4	-6.13	0.02118	.	.	.	.	.	T	0.46908	0.1417	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	.	6.5761	0.22567	0.2672:0.2566:0.0:0.4762	.	.	.	.	L	6	.	.	Q	-	2	0	GRM5	88420170	0.000000	0.05858	0.894000	0.35097	0.908000	0.53690	-3.817000	0.00359	-1.154000	0.02825	-1.006000	0.02489	CAG		0.488	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		8	88	0	0	0	1	0	8	88				
TMEM106B	54664	broad.mit.edu	37	7	12263945	12263945	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:12263945C>T	ENST00000396667.3	+	5	697	c.375C>T	c.(373-375)taC>taT	p.Y125Y	TMEM106B_ENST00000396668.3_Silent_p.Y125Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	125					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACGTGAAATACATTGGTGTAA	0.343																																						ENST00000396667.2																			0				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18						c.(373-375)taC>taT		transmembrane protein 106B							291.0	248.0	263.0					7																	12263945		2203	4300	6503	SO:0001819	synonymous_variant	54664					integral to membrane		g.chr7:12263945C>T	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.375C>T	7.37:g.12263945C>T						TMEM106B_ENST00000396668.3_Silent_p.Y125Y	p.Y125Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	5	697	+			125					A4D108|Q53FL9|Q8N4L0	Silent	SNP	ENST00000396667.3	37	c.375C>T	CCDS5358.1																																																																																				0.343	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		36	148	0	0	0	1	0	36	148				
SERPINA4	5267	broad.mit.edu	37	14	95035828	95035828	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:95035828C>G	ENST00000557004.1	+	5	1601	c.1180C>G	c.(1180-1182)Cgc>Ggc	p.R394G	SERPINA4_ENST00000298841.5_Missense_Mutation_p.R394G|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R394G			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	394					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGACCAATCGCCACATCCT	0.582																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(1180-1182)Cgc>Ggc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4							101.0	77.0	85.0					14																	95035828		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95035828C>G	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1180C>G	14.37:g.95035828C>G	ENSP00000450838:p.Arg394Gly					SERPINA4_ENST00000555095.1_Missense_Mutation_p.R394G|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R394G	p.R394G			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1601	+			394					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.1180C>G	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	C	6.063	0.379931	0.11466	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84298	-1.83;-1.83;-1.83	4.51	-3.42	0.04825	Serpin domain (3);	2.212070	0.02794	N	0.122376	T	0.73410	0.3583	L	0.31752	0.955	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.18871	0.023;0.004	T	0.55471	-0.8136	10	0.18710	T	0.47	.	3.7989	0.08750	0.1184:0.3899:0.3472:0.1445	.	394;394	B2R815;P29622	.;KAIN_HUMAN	G	394	ENSP00000450838:R394G;ENSP00000451172:R394G;ENSP00000298841:R394G	ENSP00000298841:R394G	R	+	1	0	SERPINA4	94105581	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.703000	0.05063	-0.242000	0.09667	-0.264000	0.10439	CGC		0.582	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		11	47	0	0	0	1	0	11	47				
CDC16	8881	broad.mit.edu	37	13	115004938	115004938	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:115004938C>A	ENST00000356221.3	+	5	462	c.354C>A	c.(352-354)tcC>tcA	p.S118S	CDC16_ENST00000252457.5_Silent_p.S117S|CDC16_ENST00000375312.3_Silent_p.S24S|CDC16_ENST00000375308.1_Silent_p.S24S|CDC16_ENST00000375310.1_Silent_p.S24S|CDC16_ENST00000252458.6_Silent_p.S24S|CDC16_ENST00000360383.3_Silent_p.S118S			Q13042	CDC16_HUMAN	cell division cycle 16	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AAGATCCTTCCAGCGACTGGG	0.448																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(352-354)tcC>tcA		cell division cycle 16							42.0	47.0	45.0					13																	115004938		2203	4300	6503	SO:0001819	synonymous_variant	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115004938C>A	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.354C>A	13.37:g.115004938C>A						CDC16_ENST00000252457.5_Silent_p.S117S|CDC16_ENST00000252458.6_Silent_p.S24S|CDC16_ENST00000375308.1_Silent_p.S24S|CDC16_ENST00000356221.3_Silent_p.S118S|CDC16_ENST00000375312.3_Silent_p.S24S|CDC16_ENST00000375310.1_Silent_p.S24S	p.S118S	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		5	552	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	118					A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	c.354C>A	CCDS9542.2																																																																																				0.448	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		16	49	1	0	1.15088e-07	1	1.25176e-07	16	49				
MTNR1B	4544	broad.mit.edu	37	11	92715054	92715054	+	Missense_Mutation	SNP	G	G	T	rs574453327		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:92715054G>T	ENST00000257068.2	+	2	671	c.665G>T	c.(664-666)cGc>cTc	p.R222L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	222					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGCTACCTGCGCATCTGGGTG	0.602																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(664-666)cGc>cTc		melatonin receptor 1B	Ramelteon(DB00980)						65.0	57.0	60.0					11																	92715054		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715054G>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.665G>T	11.37:g.92715054G>T	ENSP00000257068:p.Arg222Leu						p.R222L	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	671	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	222						Missense_Mutation	SNP	ENST00000257068.2	37	c.665G>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381736	0.42207	.	.	ENSG00000134640	ENST00000257068	T	0.35421	1.31	4.21	0.231	0.15377	GPCR, rhodopsin-like superfamily (1);	0.128742	0.52532	D	0.000067	T	0.48607	0.1509	M	0.70595	2.14	0.48762	D	0.999709	D	0.58620	0.983	P	0.62491	0.903	T	0.37549	-0.9701	10	0.30854	T	0.27	-11.5791	9.0165	0.36173	0.3044:0.0:0.6956:0.0	.	222	P49286	MTR1B_HUMAN	L	222	ENSP00000257068:R222L	ENSP00000257068:R222L	R	+	2	0	MTNR1B	92354702	1.000000	0.71417	0.967000	0.41034	0.284000	0.27059	2.311000	0.43717	-0.041000	0.13558	-0.333000	0.08304	CGC		0.602	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			30	48	1	0	8.58068e-18	1	1.02698e-17	30	48				
SIPA1L1	26037	broad.mit.edu	37	14	72190465	72190465	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:72190465C>T	ENST00000555818.1	+	16	4721	c.4373C>T	c.(4372-4374)cCa>cTa	p.P1458L	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1437L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P912L|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1437L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1458	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCTCGCACCAtccttctcc	0.557																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4372-4374)cCa>cTa		signal-induced proliferation-associated 1 like 1							141.0	126.0	131.0					14																	72190465		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190465C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4373C>T	14.37:g.72190465C>T	ENSP00000450832:p.Pro1458Leu					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1437L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1437L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P912L|SIPA1L1_ENST00000554874.1_3'UTR	p.P1458L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4721	+			1458			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.4373C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133291	0.56828	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;D	0.85088	-1.11;-1.1;-1.11;-1.94	5.54	5.54	0.83059	.	0.160783	0.56097	D	0.000035	D	0.83695	0.5310	N	0.19112	0.55	0.80722	D	1	B;P;B;D;P	0.54964	0.009;0.948;0.02;0.969;0.948	B;P;B;P;P	0.51999	0.008;0.489;0.012;0.687;0.489	D	0.84158	0.0427	10	0.44086	T	0.13	-18.7864	19.8379	0.96666	0.0:1.0:0.0:0.0	.	912;1458;912;1437;1458	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	L	1437;1458;1437;912	ENSP00000370630:P1437L;ENSP00000450832:P1458L;ENSP00000351352:P1437L;ENSP00000440682:P912L	ENSP00000351352:P1458L	P	+	2	0	SIPA1L1	71260218	0.998000	0.40836	0.203000	0.23512	0.714000	0.41099	6.125000	0.71627	2.765000	0.95021	0.655000	0.94253	CCA		0.557	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		6	112	0	0	0	1	0	6	112				
KCNB2	9312	broad.mit.edu	37	8	73479875	73479875	+	Splice_Site	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:73479875A>G	ENST00000523207.1	+	2	495		c.e2-1			NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2						potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCTTTCTTCCAGCTTTGTCAG	0.428																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.e2-1		potassium voltage-gated channel, Shab-related subfamily, member 2																																				SO:0001630	splice_region_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73479875A>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.-93-1A>G	8.37:g.73479875A>G								NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	495	+	Breast(64;0.137)							Q7Z7D0|Q9BXD3	Splice_Site	SNP	ENST00000523207.1	37		CCDS6209.1																																																																																				0.428	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	Intron	14	20	0	0	0	1	0	14	20				
FOXB2	442425	broad.mit.edu	37	9	79635352	79635352	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:79635352C>G	ENST00000376708.1	+	1	782	c.782C>G	c.(781-783)gCg>gGg	p.A261G		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	261	Poly-Ala.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						gcggccgcGGCGTCCACGTCA	0.721																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(781-783)gCg>gGg		forkhead box B2							19.0	21.0	20.0					9																	79635352		2199	4295	6494	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635352C>G		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.782C>G	9.37:g.79635352C>G	ENSP00000365898:p.Ala261Gly						p.A261G	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	782	+			261			Poly-Ala.			Missense_Mutation	SNP	ENST00000376708.1	37	c.782C>G	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755033	0.31046	.	.	ENSG00000204612	ENST00000376708	D	0.96802	-4.13	3.28	2.36	0.29203	.	.	.	.	.	D	0.91811	0.7409	L	0.31926	0.97	0.26224	N	0.979111	B	0.09022	0.002	B	0.06405	0.002	T	0.83062	-0.0147	9	0.31617	T	0.26	.	8.1144	0.30933	0.0:0.7501:0.2499:0.0	.	261	Q5VYV0	FOXB2_HUMAN	G	261	ENSP00000365898:A261G	ENSP00000365898:A261G	A	+	2	0	FOXB2	78825172	0.991000	0.36638	0.820000	0.32676	0.292000	0.27327	0.794000	0.26958	0.540000	0.28808	0.313000	0.20887	GCG		0.721	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		12	36	0	0	0	1	0	12	36				
MMP2	4313	broad.mit.edu	37	16	55513486	55513486	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:55513486C>T	ENST00000219070.4	+	1	604	c.95C>T	c.(94-96)tCg>tTg	p.S32L	MMP2_ENST00000543485.1_5'Flank|MMP2_ENST00000437642.2_5'Flank|MMP2_ENST00000570308.1_Intron	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	32					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GCCGCGCCGTCGCCCATCATC	0.657																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(94-96)tCg>tTg		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						23.0	22.0	23.0					16																	55513486		2196	4296	6492	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55513486C>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.95C>T	16.37:g.55513486C>T	ENSP00000219070:p.Ser32Leu					MMP2_ENST00000570308.1_Intron	p.S32L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	1	604	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	32					B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.95C>T	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438755	0.96168	.	.	ENSG00000087245	ENST00000219070	T	0.15372	2.43	4.95	4.95	0.65309	Peptidoglycan binding-like (1);	0.122043	0.56097	D	0.000021	T	0.36166	0.0957	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03051	-1.1078	10	0.41790	T	0.15	.	16.3754	0.83383	0.0:1.0:0.0:0.0	.	32	P08253	MMP2_HUMAN	L	32	ENSP00000219070:S32L	ENSP00000219070:S32L	S	+	2	0	MMP2	54070987	1.000000	0.71417	0.732000	0.30844	0.971000	0.66376	6.530000	0.73816	2.273000	0.75805	0.563000	0.77884	TCG		0.657	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			6	32	0	0	0	1	0	6	32				
TNIP1	10318	broad.mit.edu	37	5	150444653	150444653	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:150444653C>T	ENST00000389378.2	-	2	592	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	TNIP1_ENST00000315050.7_Missense_Mutation_p.E2K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E2K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E2K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E2K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E2K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E2K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E2K|TNIP1_ENST00000520931.1_Intron	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	2					defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTCCCTTCCATGAGGGTA	0.627																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(4-6)Gaa>Aaa		TNFAIP3 interacting protein 1							55.0	47.0	50.0					5																	150444653		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150444653C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.4G>A	5.37:g.150444653C>T	ENSP00000374029:p.Glu2Lys					TNIP1_ENST00000523200.1_Missense_Mutation_p.E2K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E2K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E2K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E2K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E2K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E2K|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000524280.1_Missense_Mutation_p.E2K	p.E2K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	592	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	2					A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.4G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466836	0.96257	.	.	ENSG00000145901	ENST00000389378;ENST00000315050;ENST00000523338;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000520695;ENST00000521001	T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D;D	0.76494	0.99;0.99;0.992;0.999;0.997	P;P;D;D;D	0.70227	0.819;0.896;0.923;0.968;0.928	T	0.48364	-0.9042	10	0.72032	D	0.01	-16.512	17.0031	0.86385	0.0:1.0:0.0:0.0	.	2;2;2;2;2	B7Z8K2;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;TNIP1_HUMAN	K	2	ENSP00000374029:E2K;ENSP00000317891:E2K;ENSP00000428243:E2K;ENSP00000428187:E2K;ENSP00000430760:E2K;ENSP00000430971:E2K;ENSP00000429912:E2K;ENSP00000431105:E2K;ENSP00000430279:E2K;ENSP00000428404:E2K	ENSP00000317891:E2K	E	-	1	0	TNIP1	150424846	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.731000	0.68554	2.688000	0.91661	0.655000	0.94253	GAA		0.627	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		9	16	0	0	0	1	0	9	16				
HDAC9	9734	broad.mit.edu	37	7	18788697	18788697	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:18788697A>G	ENST00000432645.2	+	13	1970	c.1970A>G	c.(1969-1971)cAt>cGt	p.H657R	HDAC9_ENST00000441542.2_Missense_Mutation_p.H660R|HDAC9_ENST00000406451.4_Missense_Mutation_p.H657R|HDAC9_ENST00000401921.1_Missense_Mutation_p.H616R	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	657	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CACCCTGAGCATGCTGGACGA	0.443																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1969-1971)cAt>cGt		histone deacetylase 9	Valproic Acid(DB00313)						86.0	84.0	84.0					7																	18788697		1935	4161	6096	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18788697A>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1970A>G	7.37:g.18788697A>G	ENSP00000410337:p.His657Arg					HDAC9_ENST00000441542.2_Missense_Mutation_p.H660R|HDAC9_ENST00000401921.1_Missense_Mutation_p.H616R|HDAC9_ENST00000432645.2_Missense_Mutation_p.H657R	p.H657R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			14	2120	+	all_lung(11;0.187)		657			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1970A>G	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244177	0.79912	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.3	5.3	0.74995	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000010	T	0.72244	0.3436	L	0.28344	0.845	0.80722	D	1	B;D;D;D;D;D;D	0.76494	0.007;0.999;0.997;0.997;0.997;0.997;0.997	B;D;D;D;D;D;D	0.72338	0.002;0.974;0.962;0.962;0.977;0.962;0.977	T	0.76285	-0.3015	10	0.87932	D	0	-47.8258	15.3999	0.74830	1.0:0.0:0.0:0.0	.	657;569;616;660;657;657;635	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	R	657;616;657;660;569	ENSP00000384657:H657R;ENSP00000383912:H616R;ENSP00000410337:H657R;ENSP00000408617:H660R	ENSP00000339165:H569R	H	+	2	0	HDAC9	18755222	1.000000	0.71417	0.979000	0.43373	0.795000	0.44927	9.139000	0.94554	2.225000	0.72522	0.460000	0.39030	CAT		0.443	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			6	34	0	0	0	1	0	6	34				
DIO2	1734	broad.mit.edu	37	14	80669598	80669598	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:80669598C>T	ENST00000557010.1	-	4	641	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.V86M|DIO2_ENST00000422005.3_Missense_Mutation_p.V86M|DIO2_ENST00000555750.1_Missense_Mutation_p.V122M	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	86					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACATGCACCACACTGGAATTG	0.458																																						ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(256-258)Gtg>Atg		deiodinase, iodothyronine, type II							35.0	34.0	34.0					14																	80669598		1973	4172	6145	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669598C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.256G>A	14.37:g.80669598C>T	ENSP00000451419:p.Val86Met					DIO2_ENST00000438257.4_Missense_Mutation_p.V86M|DIO2_ENST00000555750.1_Missense_Mutation_p.V122M|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.V86M	p.V86M	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	641	-			86					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.256G>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897265	0.72639	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.67	5.67	0.87782	Thioredoxin-like fold (1);	0.201905	0.31427	N	0.007668	T	0.72128	0.3422	M	0.84433	2.695	0.41691	D	0.989341	D;P;D	0.69078	0.992;0.889;0.997	P;P;P	0.62813	0.803;0.736;0.907	T	0.76759	-0.2841	10	0.87932	D	0	.	19.7712	0.96366	0.0:1.0:0.0:0.0	.	122;86;122	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	M	86;86;86;122	ENSP00000405854:V86M;ENSP00000451419:V86M;ENSP00000411438:V86M;ENSP00000450980:V122M	ENSP00000411438:V86M	V	-	1	0	DIO2	79739351	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.911000	0.69939	2.677000	0.91161	0.585000	0.79938	GTG		0.458	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			4	13	0	0	0	1	0	4	13				
PPP1R16B	26051	broad.mit.edu	37	20	37536546	37536546	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:37536546G>A	ENST00000299824.1	+	9	1185	c.996G>A	c.(994-996)ttG>ttA	p.L332L	PPP1R16B_ENST00000373331.2_Silent_p.L290L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	332					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGTCATCCTTGAGCCGGAGGA	0.607																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(994-996)ttG>ttA		protein phosphatase 1, regulatory subunit 16B							56.0	53.0	54.0					20																	37536546		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37536546G>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.996G>A	20.37:g.37536546G>A						PPP1R16B_ENST00000373331.2_Silent_p.L290L	p.L332L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			9	1185	+		Myeloproliferative disorder(115;0.00878)	332					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.996G>A	CCDS13309.1																																																																																				0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		18	62	0	0	0	1	0	18	62				
FGF5	2250	broad.mit.edu	37	4	81196109	81196109	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:81196109A>G	ENST00000312465.7	+	2	628	c.402A>G	c.(400-402)cgA>cgG	p.R134R	FGF5_ENST00000456523.3_Intron|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	134					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TAGGAATACGAGGAGTTTTCA	0.343																																						ENST00000312465.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(400-402)cgA>cgG		fibroblast growth factor 5							94.0	96.0	96.0					4																	81196109		2203	4300	6503	SO:0001819	synonymous_variant	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81196109A>G	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.402A>G	4.37:g.81196109A>G						FGF5_ENST00000456523.3_Intron|FGF5_ENST00000503413.1_3'UTR	p.R134R	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN			2	628	+			134					B2R554|O75846|Q3Y8M3|Q8NF90	Silent	SNP	ENST00000312465.7	37	c.402A>G	CCDS34021.1																																																																																				0.343	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			20	49	0	0	0	1	0	20	49				
ARHGEF37	389337	broad.mit.edu	37	5	148977395	148977395	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:148977395G>A	ENST00000333677.6	+	2	226	c.63G>A	c.(61-63)agG>agA	p.R21R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	21						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGGAAGGTAGGGCCTCTGAGG	0.592																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(61-63)agG>agA		Rho guanine nucleotide exchange factor (GEF) 37							47.0	49.0	48.0					5																	148977395		2027	4175	6202	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148977395G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.63G>A	5.37:g.148977395G>A							p.R21R	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			2	226	+			21					Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.63G>A	CCDS43385.1																																																																																				0.592	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		17	26	0	0	0	1	0	17	26				
CKLF	51192	broad.mit.edu	37	16	66599843	66599843	+	Missense_Mutation	SNP	C	C	T	rs376804720		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:66599843C>T	ENST00000264001.4	+	4	537	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CKLF_ENST00000345436.4_Missense_Mutation_p.R98W|CMTM1_ENST00000336328.6_5'Flank|CMTM1_ENST00000529506.1_5'Flank|CMTM1_ENST00000531885.1_5'Flank|CMTM1_ENST00000332695.7_5'Flank|CKLF_ENST00000563092.1_3'UTR|CMTM1_ENST00000457188.2_5'Flank|CMTM1_ENST00000533953.1_5'Flank|CMTM1_ENST00000328020.6_5'Flank|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000362093.4_Missense_Mutation_p.R45W|CMTM1_ENST00000533666.1_5'Flank|CKLF-CMTM1_ENST00000532838.1_Intron|CKLF_ENST00000351137.4_Missense_Mutation_p.R77W|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_5'Flank|CMTM1_ENST00000379500.2_5'Flank|CMTM1_ENST00000528324.1_5'Flank	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	130	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		CCTTATTTACCGGAAGCTTCT	0.428																																						ENST00000264001.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(388-390)Cgg>Tgg		chemokine-like factor		C	,,,,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	120.0	111.0	114.0		,,,,133,388,229,292	3.9	1.0	16		114	0,8600		0,0,4300	no	intron,intron,intron,intron,missense,missense,missense,missense	CKLF,CKLF-CMTM1	NM_001040138.2,NM_001202509.1,NM_001204098.1,NM_001204099.1,NM_016326.3,NM_016951.3,NM_181640.2,NM_181641.2	,,,,101,101,101,101	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,,,,probably-damaging,probably-damaging,probably-damaging,probably-damaging	,,,,45/68,130/153,77/100,98/121	66599843	1,13001	2201	4300	6501	SO:0001583	missense	51192							g.chr16:66599843C>T	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"""chemokine-like factor 1"""	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.388C>T	16.37:g.66599843C>T	ENSP00000264001:p.Arg130Trp					CKLF_ENST00000417030.2_Intron|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000532838.1_Intron|CKLF_ENST00000362093.4_Missense_Mutation_p.R45W|CKLF_ENST00000345436.4_Missense_Mutation_p.R98W|CKLF_ENST00000351137.4_Missense_Mutation_p.R77W|CKLF-CMTM1_ENST00000527729.1_Intron	p.R130W	NM_016951.3	NP_058647.1				OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)	4	537	+		Ovarian(137;0.0563)						C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Missense_Mutation	SNP	ENST00000264001.4	37	c.388C>T	CCDS10807.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070995	0.76301	2.27E-4	0.0	ENSG00000217555	ENST00000264001;ENST00000351137;ENST00000345436;ENST00000362093;ENST00000361141	T	0.49139	0.79	4.96	3.94	0.45596	Marvel (1);	.	.	.	.	T	0.61337	0.2339	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.977;0.987;0.987;0.987	T	0.62238	-0.6896	9	0.87932	D	0	-26.7666	10.1172	0.42598	0.1995:0.8005:0.0:0.0	.	130;45;77;98	Q9UBR5;Q9UBR5-3;Q5BJH6;Q9UBR5-4	CKLF_HUMAN;.;.;.	W	130;77;98;45;130	ENSP00000264001:R130W	ENSP00000264001:R130W	R	+	1	2	CKLF	65157344	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.812000	0.38952	2.754000	0.94517	0.609000	0.83330	CGG		0.428	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2	NM_016326		61	118	0	0	0	1	0	61	118				
ZCCHC5	203430	broad.mit.edu	37	X	77913908	77913908	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:77913908C>G	ENST00000321110.1	-	2	305	c.10G>C	c.(10-12)Gac>Cac	p.D4H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	4							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGCTAAGTCCTCCACCATC	0.463																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(10-12)Gac>Cac		zinc finger, CCHC domain containing 5							37.0	31.0	33.0					X																	77913908		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913908C>G	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.10G>C	X.37:g.77913908C>G	ENSP00000316794:p.Asp4His						p.D4H	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	305	-			4					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.10G>C	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469275	0.43839	.	.	ENSG00000179300	ENST00000321110	T	0.24908	1.83	3.24	3.24	0.37175	.	.	.	.	.	T	0.31513	0.0799	N	0.24115	0.695	0.32966	D	0.521754	D	0.76494	0.999	D	0.66716	0.946	T	0.34576	-0.9823	9	0.51188	T	0.08	-4.9206	9.0893	0.36601	0.0:1.0:0.0:0.0	.	4	Q8N8U3	ZCHC5_HUMAN	H	4	ENSP00000316794:D4H	ENSP00000316794:D4H	D	-	1	0	ZCCHC5	77800564	0.989000	0.36119	1.000000	0.80357	0.472000	0.32918	0.512000	0.22755	1.879000	0.54435	0.513000	0.50165	GAC		0.463	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		16	17	0	0	0	1	0	16	17				
PCDHGA3	56112	broad.mit.edu	37	5	140725738	140725738	+	Missense_Mutation	SNP	C	C	T	rs528604971		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140725738C>T	ENST00000253812.6	+	1	2138	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	713					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGCTGGCGCTCAGGCTG	0.682																																						ENST00000253812.6																			0				breast(1)	1						c.(2137-2139)gCg>gTg									67.0	73.0	71.0					5																	140725738		2203	4296	6499	SO:0001583	missense	56112							g.chr5:140725738C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2138C>T	5.37:g.140725738C>T	ENSP00000253812:p.Ala713Val					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A713V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2138	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.2138C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	12.48	1.951518	0.34471	.	.	ENSG00000254245	ENST00000253812	T	0.15603	2.41	5.16	2.42	0.29668	.	0.000000	0.33023	U	0.005372	T	0.14917	0.0360	L	0.47016	1.485	0.25477	N	0.98778	B;B	0.26809	0.16;0.009	B;B	0.27380	0.079;0.059	T	0.15636	-1.0430	10	0.49607	T	0.09	.	8.601	0.33745	0.0:0.7017:0.0:0.2983	.	713;713	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	713	ENSP00000253812:A713V	ENSP00000253812:A713V	A	+	2	0	PCDHGA3	140705922	0.007000	0.16637	0.442000	0.26870	0.363000	0.29612	0.878000	0.28126	0.290000	0.22444	0.563000	0.77884	GCG		0.682	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		23	140	0	0	0	1	0	23	140				
MYH2	4620	broad.mit.edu	37	17	10432101	10432101	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:10432101T>A	ENST00000245503.5	-	27	4034	c.3650A>T	c.(3649-3651)cAg>cTg	p.Q1217L	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1217L|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1217					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTCACTCGCTGCAGGTTGTC	0.527																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3649-3651)cAg>cTg		myosin, heavy chain 2, skeletal muscle, adult							94.0	86.0	89.0					17																	10432101		2203	4297	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432101T>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3650A>T	17.37:g.10432101T>A	ENSP00000245503:p.Gln1217Leu					MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1217L|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q1217L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	4034	-			1217					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3650A>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610217	0.87258	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80480	-1.38;-1.38	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.37261	U	0.002167	D	0.93298	0.7864	H	0.97415	4	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.95527	0.8600	10	0.87932	D	0	.	15.1999	0.73126	0.0:0.0:0.0:1.0	.	1217	Q9UKX2	MYH2_HUMAN	L	1217	ENSP00000245503:Q1217L;ENSP00000380367:Q1217L	ENSP00000245503:Q1217L	Q	-	2	0	MYH2	10372826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.786000	0.85741	2.186000	0.69663	0.533000	0.62120	CAG		0.527	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		55	114	0	0	0	1	0	55	114				
FBXL6	26233	broad.mit.edu	37	8	145581347	145581347	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:145581347C>A	ENST00000331890.5	-	2	580	c.516G>T	c.(514-516)aaG>aaT	p.K172N	FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.K172N|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	172					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGACCCCGCCCTTGGCAGGCC	0.692																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(514-516)aaG>aaT		F-box and leucine-rich repeat protein 6							24.0	26.0	25.0					8																	145581347		2198	4300	6498	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145581347C>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.516G>T	8.37:g.145581347C>A	ENSP00000330098:p.Lys172Asn					FBXL6_ENST00000455319.2_Missense_Mutation_p.K172N	p.K172N	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		2	580	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		172					Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.516G>T	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571495	0.13623	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.25912	1.85;1.77	3.35	-0.662	0.11413	.	0.908203	0.09339	N	0.815797	T	0.11793	0.0287	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.31138	-0.9954	10	0.54805	T	0.06	-6.2838	0.566	0.00687	0.2002:0.365:0.1955:0.2393	.	172;172	Q8N531;Q8N531-2	FBXL6_HUMAN;.	N	172	ENSP00000403873:K172N;ENSP00000330098:K172N	ENSP00000330098:K172N	K	-	3	2	FBXL6	145552155	0.000000	0.05858	0.000000	0.03702	0.459000	0.32528	-1.282000	0.02799	-0.040000	0.13580	-0.467000	0.05162	AAG		0.692	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		4	21	1	0	0.00909568	1	0.00927881	4	21				
ATF3	467	broad.mit.edu	37	1	212788549	212788549	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:212788549G>T	ENST00000341491.4	+	2	451	c.186G>T	c.(184-186)ctG>ctT	p.L62L	ATF3_ENST00000366987.2_Silent_p.L62L|ATF3_ENST00000492118.1_Intron|RN7SL512P_ENST00000578962.1_RNA|ATF3_ENST00000366983.1_Silent_p.L62L|ATF3_ENST00000366985.1_Silent_p.L5L|ATF3_ENST00000336937.4_Silent_p.L33L	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	62					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	CCTCTGCGCTGGAATCAGTCA	0.527																																						ENST00000341491.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(184-186)ctG>ctT		activating transcription factor 3							70.0	66.0	68.0					1																	212788549		2203	4300	6503	SO:0001819	synonymous_variant	467					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:212788549G>T	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.186G>T	1.37:g.212788549G>T						ATF3_ENST00000366983.1_Silent_p.L62L|ATF3_ENST00000366985.1_Silent_p.L5L|ATF3_ENST00000336937.4_Silent_p.L33L|ATF3_ENST00000366987.2_Silent_p.L62L|ATF3_ENST00000492118.1_Intron	p.L62L	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	2	451	+			62					Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Silent	SNP	ENST00000341491.4	37	c.186G>T	CCDS1506.1																																																																																				0.527	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674		14	98	1	0	0.0285812	1	0.0289623	14	98				
ROCK2	9475	broad.mit.edu	37	2	11338713	11338713	+	Splice_Site	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:11338713T>A	ENST00000315872.6	-	25	3453		c.e25-2		ROCK2_ENST00000401753.1_Splice_Site	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTGACAGTTCTGAAACATGGA	0.303																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.e25-2		Rho-associated, coiled-coil containing protein kinase 2							72.0	69.0	70.0					2																	11338713		1802	4061	5863	SO:0001630	splice_region_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11338713T>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3005-2A>T	2.37:g.11338713T>A						ROCK2_ENST00000401753.1_Splice_Site		NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	25	3453	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)							Q53QZ0|Q53SJ7|Q9UQN5	Splice_Site	SNP	ENST00000315872.6	37		CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360447	0.61403	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7299	0.51730	0.0:0.0:0.1473:0.8527	.	.	.	.	.	-1	.	.	.	-	.	.	ROCK2	11256164	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	4.923000	0.63412	2.132000	0.65825	0.533000	0.62120	.		0.303	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		Intron	30	103	0	0	0	1	0	30	103				
IL16	3603	broad.mit.edu	37	15	81592669	81592669	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:81592669C>A	ENST00000302987.4	+	13	3002	c.3002C>A	c.(3001-3003)tCc>tAc	p.S1001Y	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.S300Y|IL16_ENST00000394660.2_Missense_Mutation_p.S1001Y			Q14005	IL16_HUMAN	interleukin 16	1001					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCATGAAATCCTTGCTGTGC	0.522																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(3001-3003)tCc>tAc		interleukin 16							115.0	99.0	105.0					15																	81592669		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592669C>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3002C>A	15.37:g.81592669C>A	ENSP00000302935:p.Ser1001Tyr					IL16_ENST00000394652.2_Missense_Mutation_p.S300Y|IL16_ENST00000302987.4_Missense_Mutation_p.S1001Y	p.S1001Y	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3362	+			1001					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3002C>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413806	0.83449	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.14640	2.49;2.49;3.09	5.08	5.08	0.68730	.	0.000000	0.45361	D	0.000375	T	0.40473	0.1118	M	0.74258	2.255	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.997;0.996;0.999;0.999	T	0.34551	-0.9824	10	0.87932	D	0	.	18.4593	0.90732	0.0:1.0:0.0:0.0	.	833;494;538;391;1001;1001	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	Y	1001;833;1001;538;391;300;300	ENSP00000378155:S1001Y;ENSP00000302935:S1001Y;ENSP00000378147:S300Y	ENSP00000302935:S1001Y	S	+	2	0	IL16	79379724	0.996000	0.38824	0.917000	0.36280	0.990000	0.78478	4.992000	0.63889	2.353000	0.79882	0.591000	0.81541	TCC		0.522	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		34	74	1	0	6.90743e-12	1	7.83529e-12	34	74				
ADM	133	broad.mit.edu	37	11	10327307	10327307	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:10327307C>T	ENST00000528655.1	+	1	677	c.60C>T	c.(58-60)gaC>gaT	p.D20D	RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000528544.1_Silent_p.D20D|ADM_ENST00000524948.1_Silent_p.D20D|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000526492.1_Silent_p.D20D|ADM_ENST00000278175.5_Silent_p.D20D|ADM_ENST00000525063.1_Silent_p.D20D|ADM_ENST00000534464.1_5'UTR			P35318	ADML_HUMAN	adrenomedullin	20					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TAGGCGCTGACACCGCTCGGT	0.607																																						ENST00000528655.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(58-60)gaC>gaT		adrenomedullin							87.0	80.0	82.0					11																	10327307		2201	4294	6495	SO:0001819	synonymous_variant	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327307C>T	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.60C>T	11.37:g.10327307C>T						ADM_ENST00000525063.1_Silent_p.D20D|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000526492.1_Silent_p.D20D|ADM_ENST00000524948.1_Silent_p.D20D|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000278175.5_Silent_p.D20D|ADM_ENST00000528544.1_Silent_p.D20D	p.D20D			P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	1	677	+			20					B2R793|D3DQV3|Q6FGW2	Silent	SNP	ENST00000528655.1	37	c.60C>T	CCDS7801.1																																																																																				0.607	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124		17	35	0	0	0	1	0	17	35				
SREBF2	6721	broad.mit.edu	37	22	42280846	42280846	+	Splice_Site	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:42280846G>T	ENST00000361204.4	+	11	2205	c.2039G>T	c.(2038-2040)gGg>gTg	p.G680V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	680					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCCACCCTAGGGAAGCTTCCT	0.532																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.e11-1		sterol regulatory element binding transcription factor 2							95.0	79.0	85.0					22																	42280846		2203	4300	6503	SO:0001630	splice_region_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42280846G>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2039-1G>T	22.37:g.42280846G>T							p.G680_splice	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			11	2205	+			680					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Splice_Site	SNP	ENST00000361204.4	37	c.2038_splice	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037636	0.75617	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.15139	2.45	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	M	0.72479	2.2	0.80722	D	1	D	0.69078	0.997	P	0.62435	0.902	T	0.20940	-1.0260	9	.	.	.	.	17.7719	0.88495	0.0:0.0:1.0:0.0	.	680	Q12772	SRBP2_HUMAN	V	680	ENSP00000354476:G680V	.	G	+	2	0	SREBF2	40610792	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.883000	0.92426	2.219000	0.72066	0.313000	0.20887	GGG		0.532	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	Missense_Mutation	21	56	1	0	1.10513e-12	1	1.26301e-12	21	56				
TMEM200C	645369	broad.mit.edu	37	18	5891615	5891615	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:5891615C>G	ENST00000581347.2	-	3	1093	c.448G>C	c.(448-450)Ggc>Cgc	p.G150R	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.G150R|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	150						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						AAGAAGAAGCCCACGGACGTG	0.647																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(448-450)Ggc>Cgc		transmembrane protein 200C							55.0	69.0	64.0					18																	5891615		2132	4235	6367	SO:0001583	missense	645369					integral to membrane		g.chr18:5891615C>G		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.448G>C	18.37:g.5891615C>G	ENSP00000463375:p.Gly150Arg					TMEM200C_ENST00000383490.2_Missense_Mutation_p.G150R|RP11-945C19.4_ENST00000577694.1_RNA	p.G150R			A6NKL6	T200C_HUMAN			3	1093	-			150						Missense_Mutation	SNP	ENST00000581347.2	37	c.448G>C	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151346	0.57151	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.49	2.66	0.31614	.	0.114600	0.64402	D	0.000015	T	0.69486	0.3116	M	0.71036	2.16	0.44469	D	0.9974	D	0.76494	0.999	D	0.75020	0.985	T	0.70070	-0.4973	9	0.87932	D	0	-10.7695	7.4413	0.27185	0.0:0.7321:0.0:0.2679	.	150	A6NKL6	T200C_HUMAN	R	150	.	ENSP00000372982:G150R	G	-	1	0	TMEM200C	5881615	0.997000	0.39634	0.959000	0.39883	0.819000	0.46315	2.996000	0.49449	0.994000	0.38892	0.460000	0.39030	GGC		0.647	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		12	73	0	0	0	1	0	12	73				
LYN	4067	broad.mit.edu	37	8	56866481	56866481	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:56866481C>A	ENST00000519728.1	+	8	1024	c.728C>A	c.(727-729)cCc>cAc	p.P243H	LYN_ENST00000520220.2_Missense_Mutation_p.P222H	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	243					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)	TGGGAGATCCCCCGGGAGTCC	0.522																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(664-666)cCc>cAc		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							92.0	94.0	93.0					8																	56866481		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.chr8:56866481C>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.728C>A	8.37:g.56866481C>A	ENSP00000428924:p.Pro243His					LYN_ENST00000519728.1_Missense_Mutation_p.P243H	p.P222H	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		8	939	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	243			SH2.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.665C>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827972	0.90955	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.26223	1.75;1.75	5.08	5.08	0.68730	Protein kinase-like domain (1);SH2 motif (1);	0.201547	0.53938	D	0.000047	T	0.59032	0.2164	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.71870	0.975;0.906	T	0.68036	-0.5515	10	0.87932	D	0	.	18.8254	0.92115	0.0:1.0:0.0:0.0	.	313;243	Q6NUK7;P07948	.;LYN_HUMAN	H	243;222	ENSP00000428924:P243H;ENSP00000428424:P222H	ENSP00000428924:P243H	P	+	2	0	LYN	57029035	0.998000	0.40836	0.895000	0.35142	0.992000	0.81027	7.703000	0.84585	2.534000	0.85438	0.650000	0.86243	CCC		0.522	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		47	62	1	0	2.56175e-15	1	2.99527e-15	47	62				
USP33	23032	broad.mit.edu	37	1	78177463	78177463	+	Missense_Mutation	SNP	C	C	T	rs1058816		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:78177463C>T	ENST00000370793.1	-	22	2814	c.2468G>A	c.(2467-2469)aGa>aAa	p.R823K	USP33_ENST00000357428.1_Missense_Mutation_p.R823K|USP33_ENST00000370794.3_Missense_Mutation_p.R792K|USP33_ENST00000370792.3_Missense_Mutation_p.R815K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	823	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGTTTTTCTTCTTTTTTCAAT	0.328																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(2467-2469)aGa>aAa		ubiquitin specific peptidase 33							37.0	42.0	40.0					1																	78177463		2202	4300	6502	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78177463C>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2468G>A	1.37:g.78177463C>T	ENSP00000359829:p.Arg823Lys					USP33_ENST00000370794.3_Missense_Mutation_p.R792K|USP33_ENST00000370792.3_Missense_Mutation_p.R815K|USP33_ENST00000357428.1_Missense_Mutation_p.R823K	p.R823K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			22	2814	-			823			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2468G>A	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.312069|5.312069	0.95655|0.95655	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.14144	.|2.79;2.77;2.77;2.53	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25158|0.25158	0.0611|0.0611	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;P;P;D	.|0.71674	.|0.966;0.918;0.739;0.998	.|P;P;B;P	.|0.60609	.|0.872;0.586;0.308;0.877	T|T	0.00460|0.00460	-1.1726|-1.1726	5|10	.|0.48119	.|T	.|0.1	.|.	19.4888|19.4888	0.95042|0.95042	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs1058816;rs3199456|rs1058816;rs3199456	.|815;792;823;157	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7;Q9Y417	.|.;.;UBP33_HUMAN;.	K|K	428|792;823;823;815	.|ENSP00000359830:R792K;ENSP00000359829:R823K;ENSP00000350009:R823K;ENSP00000359828:R815K	.|ENSP00000350009:R823K	E|R	-|-	1|2	0|0	USP33|USP33	77950051|77950051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.382000|7.382000	0.79729|0.79729	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.328	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		43	100	0	0	0	1	0	43	100				
BRINP2	57795	broad.mit.edu	37	1	177249808	177249808	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:177249808T>A	ENST00000361539.4	+	8	1808	c.1496T>A	c.(1495-1497)cTg>cAg	p.L499Q	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	499					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GCCGAGTCCCTGGAAAACTTT	0.587																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1495-1497)cTg>cAg									30.0	32.0	32.0					1																	177249808		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177249808T>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1496T>A	1.37:g.177249808T>A	ENSP00000354481:p.Leu499Gln					FAM5B_ENST00000478325.1_3'UTR	p.L499Q	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			8	1808	+			499					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1496T>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.276532	0.40294	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.41758	0.99	5.16	4.04	0.47022	.	0.167473	0.41396	D	0.000891	T	0.43077	0.1231	L	0.34521	1.04	0.45330	D	0.998322	D;P	0.55800	0.973;0.61	P;P	0.57057	0.812;0.451	T	0.34153	-0.9840	10	0.54805	T	0.06	-10.6329	7.591	0.28021	0.0:0.1638:0.0:0.8362	.	394;499	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	Q	252;499	ENSP00000354481:L499Q	ENSP00000354481:L499Q	L	+	2	0	FAM5B	175516431	0.997000	0.39634	1.000000	0.80357	0.787000	0.44495	2.384000	0.44362	1.943000	0.56356	0.260000	0.18958	CTG		0.587	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		39	38	0	0	0	1	0	39	38				
TBC1D4	9882	broad.mit.edu	37	13	75930353	75930353	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:75930353C>A	ENST00000377636.3	-	4	1551	c.1205G>T	c.(1204-1206)tGc>tTc	p.C402F	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.C402F|TBC1D4_ENST00000377625.2_Missense_Mutation_p.C402F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	402	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGACTCCCGGCAGATAAAGCC	0.418																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1204-1206)tGc>tTc		TBC1 domain family, member 4							62.0	60.0	60.0					13																	75930353		1911	4137	6048	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75930353C>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1205G>T	13.37:g.75930353C>A	ENSP00000366863:p.Cys402Phe					TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.C402F|TBC1D4_ENST00000377625.2_Missense_Mutation_p.C402F	p.C402F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	4	1551	-		Prostate(6;0.014)|Breast(118;0.0982)	402			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1205G>T	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973789	0.92919	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.14516	2.5;2.5;2.5	6.06	6.06	0.98353	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.43411	0.1246	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.991;0.989	T	0.19418	-1.0306	10	0.87932	D	0	-16.8387	20.6397	0.99537	0.0:1.0:0.0:0.0	.	402;402;402	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	F	402	ENSP00000366863:C402F;ENSP00000395986:C402F;ENSP00000366852:C402F	ENSP00000366852:C402F	C	-	2	0	TBC1D4	74828354	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.762000	0.85270	2.880000	0.98712	0.650000	0.86243	TGC		0.418	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		18	43	1	0	8.34094e-07	1	8.91263e-07	18	43				
NRXN1	9378	broad.mit.edu	37	2	50724790	50724790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:50724790C>A	ENST00000406316.2	-	14	4036	c.2560G>T	c.(2560-2562)Gaa>Taa	p.E854*	NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E846*|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E854*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E854*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.E894*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E846*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	854	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACCGTCGTTCTGTGATGATG	0.403																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2680-2682)Gaa>Taa		neurexin 1							91.0	84.0	86.0					2																	50724790		1943	4141	6084	SO:0001587	stop_gained	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50724790C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2560G>T	2.37:g.50724790C>A	ENSP00000384311:p.Glu854*					NRXN1_ENST00000406316.2_Nonsense_Mutation_p.E854*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E846*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E846*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E854*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E854*	p.E894*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	4019	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	854					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.2680G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	49	15.276053	0.99828	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.434	0.99088	0.0:1.0:0.0:0.0	.	.	.	.	X	894;854;846;854;895;846;854	.	ENSP00000385017:E854X	E	-	1	0	NRXN1	50578294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.625000	0.83145	2.838000	0.97847	0.561000	0.74099	GAA		0.403	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			19	74	1	0	4.96729e-08	1	5.4221e-08	19	74				
A2M	2	broad.mit.edu	37	12	9229400	9229400	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:9229400T>A	ENST00000318602.7	-	28	3791	c.3484A>T	c.(3484-3486)Aag>Tag	p.K1162*	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1162					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCCTTCCTCTTGTCCTGGTTA	0.507																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3484-3486)Aag>Tag		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						119.0	129.0	126.0					12																	9229400		2191	4291	6482	SO:0001587	stop_gained	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9229400T>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3484A>T	12.37:g.9229400T>A	ENSP00000323929:p.Lys1162*						p.K1162*	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			28	3791	-			1162					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Nonsense_Mutation	SNP	ENST00000318602.7	37	c.3484A>T	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	41	9.148180	0.99082	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	.	.	.	5.62	5.62	0.85841	.	0.521574	0.20491	N	0.091284	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.712	0.28684	0.137:0.0:0.1426:0.7203	.	.	.	.	X	1162;1177	.	ENSP00000323929:K1162X	K	-	1	0	A2M	9120667	0.075000	0.21258	0.003000	0.11579	0.013000	0.08279	2.664000	0.46783	2.153000	0.67306	0.477000	0.44152	AAG		0.507	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		24	62	0	0	0	1	0	24	62				
SLC6A2	6530	broad.mit.edu	37	16	55734117	55734117	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:55734117T>A	ENST00000379906.2	+	12	1912	c.1657T>A	c.(1657-1659)Tgg>Agg	p.W553R	SLC6A2_ENST00000567238.1_Missense_Mutation_p.W448R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W508R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.W553R|SLC6A2_ENST00000219833.8_Missense_Mutation_p.W553R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.W553R|SLC6A2_ENST00000414754.3_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	553					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTCCCGCCCTGGGCCAACTG	0.562																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1657-1659)Tgg>Agg		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						118.0	102.0	108.0					16																	55734117		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55734117T>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1657T>A	16.37:g.55734117T>A	ENSP00000369237:p.Trp553Arg					SLC6A2_ENST00000219833.8_Missense_Mutation_p.W553R|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000567238.1_Missense_Mutation_p.W448R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W508R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.W553R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.W553R	p.W553R	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	12	1912	+			553					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1657T>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.139655	0.77775	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.80123	-1.34;-1.34	5.38	5.38	0.77491	.	0.062773	0.64402	D	0.000002	D	0.92257	0.7544	H	0.94698	3.57	0.80722	D	1	P;D;D	0.89917	0.926;0.985;1.0	P;P;D	0.85130	0.781;0.861;0.997	D	0.94226	0.7472	10	0.87932	D	0	.	14.3744	0.66862	0.0:0.0:0.0:1.0	.	267;448;553	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	R	553;267;553;553	ENSP00000369237:W553R;ENSP00000219833:W553R	ENSP00000219833:W553R	W	+	1	0	SLC6A2	54291618	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	5.830000	0.69324	2.022000	0.59522	0.533000	0.62120	TGG		0.562	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			32	110	0	0	0	1	0	32	110				
AUTS2	26053	broad.mit.edu	37	7	70255264	70255264	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:70255264C>T	ENST00000342771.4	+	19	3383	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	AUTS2_ENST00000406775.2_Missense_Mutation_p.S997L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1021										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTGGCCTCGATGCCCATG	0.682																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3061-3063)tCg>tTg		autism susceptibility candidate 2							22.0	25.0	24.0					7																	70255264		2187	4253	6440	SO:0001583	missense	26053							g.chr7:70255264C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3062C>T	7.37:g.70255264C>T	ENSP00000344087:p.Ser1021Leu					AUTS2_ENST00000406775.2_Missense_Mutation_p.S997L	p.S1021L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3383	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1021					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3062C>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156057	0.78114	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.36699	1.27;1.24	4.63	2.77	0.32553	.	0.172978	0.52532	D	0.000064	T	0.41696	0.1170	L	0.49778	1.585	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.998	P;P;P	0.54312	0.508;0.748;0.748	T	0.11641	-1.0579	9	.	.	.	-13.7568	9.6474	0.39877	0.0:0.78:0.142:0.078	.	473;997;1021	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	L	997;1021	ENSP00000385263:S997L;ENSP00000344087:S1021L	.	S	+	2	0	AUTS2	69893200	0.997000	0.39634	0.291000	0.24904	0.988000	0.76386	4.465000	0.60141	0.370000	0.24538	0.655000	0.94253	TCG		0.682	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			9	24	0	0	0	1	0	9	24				
MMP13	4322	broad.mit.edu	37	11	102818643	102818643	+	Silent	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:102818643C>G	ENST00000260302.3	-	8	1216	c.1188G>C	c.(1186-1188)ctG>ctC	p.L396L	MMP13_ENST00000340273.4_Silent_p.L396L	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	396	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TTCCTGAGAACAGGAGAGTCT	0.438																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1186-1188)ctG>ctC		matrix metallopeptidase 13 (collagenase 3)							129.0	109.0	116.0					11																	102818643		2202	4299	6501	SO:0001819	synonymous_variant	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102818643C>G	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1188G>C	11.37:g.102818643C>G						MMP13_ENST00000340273.4_Silent_p.L396L	p.L396L	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	8	1216	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	396			Hemopexin-like 3.		A8K846|B2RCZ3|Q6NWN6	Silent	SNP	ENST00000260302.3	37	c.1188G>C	CCDS8324.1																																																																																				0.438	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		32	97	0	0	0	1	0	32	97				
LGALS9B	284194	broad.mit.edu	37	17	20363739	20363739	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:20363739C>T	ENST00000423676.3	-	2	120	c.57G>A	c.(55-57)ggG>ggA	p.G19G	LGALS9B_ENST00000324290.5_Silent_p.G19G			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	19	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTTGGATAGTCCCAGAAAAGG	0.587																																						ENST00000423676.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(55-57)ggG>ggA		lectin, galactoside-binding, soluble, 9B							80.0	70.0	73.0					17																	20363739		2202	4294	6496	SO:0001819	synonymous_variant	284194						sugar binding	g.chr17:20363739C>T		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.57G>A	17.37:g.20363739C>T						LGALS9B_ENST00000324290.5_Silent_p.G19G	p.G19G			Q3B8N2	LEG9B_HUMAN			2	120	-			19			Galectin 1.		A6NLF8|A8K2J8	Silent	SNP	ENST00000423676.3	37	c.57G>A																																																																																					0.587	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		14	90	0	0	0	1	0	14	90				
PKHD1L1	93035	broad.mit.edu	37	8	110477430	110477430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:110477430G>A	ENST00000378402.5	+	49	8473	c.8369G>A	c.(8368-8370)tGg>tAg	p.W2790*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2790					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCTTTCGCTGGGAACATGAA	0.393										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8368-8370)tGg>tAg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							77.0	80.0	79.0					8																	110477430		1956	4129	6085	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477430G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8369G>A	8.37:g.110477430G>A	ENSP00000367655:p.Trp2790*	HNSCC(38;0.096)					p.W2790*	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8473	+			2790					Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.8369G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	49	15.078738	0.99821	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5904	0.87994	0.0:0.0:1.0:0.0	.	.	.	.	X	2790	.	ENSP00000367655:W2790X	W	+	2	0	PKHD1L1	110546606	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	8.378000	0.90144	2.753000	0.94483	0.557000	0.71058	TGG		0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		38	51	0	0	0	1	0	38	51				
KRT78	196374	broad.mit.edu	37	12	53233635	53233635	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:53233635C>A	ENST00000304620.4	-	7	1244	c.1181G>T	c.(1180-1182)tGc>tTc	p.C394F	KRT78_ENST00000359499.4_Missense_Mutation_p.C284F	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	394	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGGTACTCGCACAGCAGCCG	0.642																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(850-852)tGc>tTc		keratin 78							69.0	59.0	62.0					12																	53233635		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53233635C>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1181G>T	12.37:g.53233635C>A	ENSP00000306261:p.Cys394Phe					KRT78_ENST00000304620.4_Missense_Mutation_p.C394F	p.C284F			Q8N1N4	K2C78_HUMAN			7	862	-			394			Coil 2.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.851G>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	9.313	1.056102	0.19907	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.89485	-2.52;-2.52	3.8	1.95	0.26073	Filament (1);	.	.	.	.	D	0.85470	0.5704	L	0.43923	1.385	0.31782	N	0.630789	B	0.31859	0.343	B	0.38156	0.266	D	0.83768	0.0218	9	0.87932	D	0	.	8.8437	0.35157	0.0:0.8094:0.0:0.1906	.	394	Q8N1N4	K2C78_HUMAN	F	284;394;165	ENSP00000352479:C284F;ENSP00000306261:C394F	ENSP00000306261:C394F	C	-	2	0	KRT78	51519902	0.000000	0.05858	0.047000	0.18901	0.030000	0.12068	0.903000	0.28475	0.399000	0.25367	0.462000	0.41574	TGC		0.642	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		16	68	1	0	2.23348e-06	1	2.37405e-06	16	68				
HORMAD1	84072	broad.mit.edu	37	1	150679212	150679212	+	Silent	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:150679212A>T	ENST00000361824.2	-	10	726	c.621T>A	c.(619-621)ccT>ccA	p.P207P	HORMAD1_ENST00000368993.2_Silent_p.P207P|HORMAD1_ENST00000322343.7_Silent_p.P200P|HORMAD1_ENST00000368995.4_Silent_p.P127P	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	207	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTAAATACATAGGTTCCCCTT	0.393																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(619-621)ccT>ccA		HORMA domain containing 1							122.0	116.0	118.0					1																	150679212		2203	4300	6503	SO:0001819	synonymous_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150679212A>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.621T>A	1.37:g.150679212A>T						HORMAD1_ENST00000322343.7_Silent_p.P200P|HORMAD1_ENST00000361824.2_Silent_p.P207P|HORMAD1_ENST00000368995.4_Silent_p.P127P	p.P207P			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		10	726	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		207			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Silent	SNP	ENST00000361824.2	37	c.621T>A	CCDS967.1																																																																																				0.393	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		96	91	0	0	0	1	0	96	91				
GSTA5	221357	broad.mit.edu	37	6	52701090	52701090	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:52701090A>G	ENST00000370989.2	-	3	245	c.216T>C	c.(214-216)ctT>ctC	p.L72L	GSTA5_ENST00000284562.2_Silent_p.L72L|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	72	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAATGTAGTTAAGAATGGCTC	0.423																																						ENST00000370989.1																			0				endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(214-216)ctT>ctC		glutathione S-transferase alpha 5	Glutathione(DB00143)						167.0	168.0	168.0					6																	52701090		2203	4300	6503	SO:0001819	synonymous_variant	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52701090A>G	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.216T>C	6.37:g.52701090A>G						GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Silent_p.L72L	p.L72L			Q7RTV2	GSTA5_HUMAN			4	374	-	Lung NSC(77;0.0912)		72			GST N-terminal.		Q5SZC2	Silent	SNP	ENST00000370989.2	37	c.216T>C	CCDS4946.1																																																																																				0.423	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		72	234	0	0	0	1	0	72	234				
FAM71E1	112703	broad.mit.edu	37	19	50979183	50979183	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:50979183G>T	ENST00000600100.1	-	2	631	c.267C>A	c.(265-267)ccC>ccA	p.P89P	EMC10_ENST00000376918.3_5'Flank|FAM71E1_ENST00000595790.1_Silent_p.P89P|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000334976.6_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	89										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GACGGCCCGTGGGAGAGGCTG	0.617																																						ENST00000600100.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(265-267)ccC>ccA		family with sequence similarity 71, member E1							35.0	36.0	35.0					19																	50979183		2203	4300	6503	SO:0001819	synonymous_variant	112703							g.chr19:50979183G>T		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.267C>A	19.37:g.50979183G>T						FAM71E1_ENST00000595790.1_Silent_p.P89P	p.P89P			Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	2	631	-		all_neural(266;0.131)	89					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.267C>A																																																																																					0.617	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			3	18	1	0	0.004672	1	0.00478211	3	18				
MKI67	4288	broad.mit.edu	37	10	129902617	129902617	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:129902617A>C	ENST00000368654.3	-	13	7862	c.7487T>G	c.(7486-7488)cTa>cGa	p.L2496R	MKI67_ENST00000368653.3_Missense_Mutation_p.L2136R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2496	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGACTGCTAGGGGCTCTTC	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7486-7488)cTa>cGa		marker of proliferation Ki-67							155.0	156.0	156.0					10																	129902617		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902617A>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7487T>G	10.37:g.129902617A>C	ENSP00000357643:p.Leu2496Arg					MKI67_ENST00000368653.3_Missense_Mutation_p.L2136R	p.L2496R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7862	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2496			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7487T>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	9.426	1.084193	0.20309	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02737	4.18;4.18	3.41	1.53	0.23141	.	.	.	.	.	T	0.03608	0.0103	L	0.54323	1.7	0.09310	N	1	P;P;B	0.45827	0.867;0.867;0.106	B;B;B	0.43809	0.432;0.432;0.193	T	0.40156	-0.9578	9	0.17832	T	0.49	.	5.0088	0.14302	0.4703:0.0:0.5297:0.0	.	2495;2136;2496	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	R	2496;2136;2495	ENSP00000357643:L2496R;ENSP00000357642:L2136R	ENSP00000357642:L2136R	L	-	2	0	MKI67	129792607	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.157000	0.10085	0.439000	0.26476	-0.242000	0.12053	CTA		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		56	270	0	0	0	1	0	56	270				
DNAH9	1770	broad.mit.edu	37	17	11642350	11642350	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:11642350T>C	ENST00000262442.4	+	29	6036	c.5968T>C	c.(5968-5970)Ttc>Ctc	p.F1990L	AC005701.1_ENST00000584990.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.F1990L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1990	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGTCTCTCTTCAGGTGAGT	0.443																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(5968-5970)Ttc>Ctc		dynein, axonemal, heavy chain 9							59.0	57.0	58.0					17																	11642350		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11642350T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5968T>C	17.37:g.11642350T>C	ENSP00000262442:p.Phe1990Leu					DNAH9_ENST00000454412.2_Missense_Mutation_p.F1990L	p.F1990L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	29	6036	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1990			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5968T>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374407	0.82573	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.47177	0.85;0.85	5.94	4.86	0.63082	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.87269	2.87	0.80722	D	1	P	0.50819	0.939	P	0.59546	0.859	T	0.72304	-0.4333	10	0.54805	T	0.06	.	12.5904	0.56439	0.1244:0.0:0.0:0.8755	.	1990	Q9NYC9	DYH9_HUMAN	L	1990;1990;572	ENSP00000262442:F1990L;ENSP00000414874:F1990L	ENSP00000262442:F1990L	F	+	1	0	DNAH9	11583075	1.000000	0.71417	0.896000	0.35187	0.526000	0.34562	7.885000	0.87282	1.042000	0.40150	0.482000	0.46254	TTC		0.443	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	39	0	0	0	1	0	13	39				
HSD17B7P2	158160	broad.mit.edu	37	10	38658926	38658926	+	RNA	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:38658926A>G	ENST00000494540.1	+	0	770					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		ATATAATGGAACAGAAGCTCT	0.323																																						ENST00000494540.1																			0																																																			158160							g.chr10:38658926A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38658926A>G								NR_003086.1						0	770	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.323	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		17	63	0	0	0	1	0	17	63				
ABL2	27	broad.mit.edu	37	1	179089369	179089369	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:179089369G>T	ENST00000502732.1	-	6	1204	c.1001C>A	c.(1000-1002)gCa>gAa	p.A334E	ABL2_ENST00000504405.1_Missense_Mutation_p.A298E|ABL2_ENST00000344730.3_Missense_Mutation_p.A319E|ABL2_ENST00000408940.3_Missense_Mutation_p.A298E|ABL2_ENST00000511413.1_Missense_Mutation_p.A334E|ABL2_ENST00000367623.4_Missense_Mutation_p.A313E|ABL2_ENST00000392043.3_Missense_Mutation_p.A313E|ABL2_ENST00000507173.1_Missense_Mutation_p.A313E|ABL2_ENST00000512653.1_Missense_Mutation_p.A319E	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	334	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTCATTACTGCAGCTTCTTT	0.403			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1000-1002)gCa>gAa		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						187.0	179.0	182.0					1																	179089369		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179089369G>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1001C>A	1.37:g.179089369G>T	ENSP00000427562:p.Ala334Glu					ABL2_ENST00000344730.3_Missense_Mutation_p.A319E|ABL2_ENST00000392043.3_Missense_Mutation_p.A313E|ABL2_ENST00000408940.3_Missense_Mutation_p.A298E|ABL2_ENST00000507173.1_Missense_Mutation_p.A313E|ABL2_ENST00000512653.1_Missense_Mutation_p.A319E|ABL2_ENST00000511413.1_Missense_Mutation_p.A334E|ABL2_ENST00000504405.1_Missense_Mutation_p.A298E|ABL2_ENST00000367623.4_Missense_Mutation_p.A313E	p.A334E	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			6	1204	-			334			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1001C>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053036	0.75960	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	U	0.000365	T	0.62588	0.2440	N	0.00765	-1.205	0.80722	D	1	P;P;P;P;P;B;B;P;P;P;P	0.44241	0.829;0.801;0.801;0.801;0.801;0.174;0.411;0.466;0.829;0.466;0.801	B;B;B;B;B;B;B;B;B;B;B	0.40702	0.145;0.298;0.298;0.298;0.298;0.106;0.228;0.338;0.145;0.338;0.298	T	0.77205	-0.2673	10	0.72032	D	0.01	.	17.1009	0.86649	0.0:0.0:1.0:0.0	.	313;313;334;298;298;313;298;334;319;298;319	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	E	334;298;319;319;298;313;313;334;313	ENSP00000427562:A334E;ENSP00000386152:A298E;ENSP00000339209:A319E;ENSP00000423578:A319E;ENSP00000426831:A298E;ENSP00000356595:A313E;ENSP00000423413:A313E;ENSP00000424697:A334E;ENSP00000375897:A313E	ENSP00000339209:A319E	A	-	2	0	ABL2	177355992	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.633000	0.98432	2.261000	0.74972	0.551000	0.68910	GCA		0.403	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		35	192	1	0	1.69901e-12	1	1.93808e-12	35	192				
RAI14	26064	broad.mit.edu	37	5	34823347	34823347	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:34823347T>C	ENST00000265109.3	+	15	1687	c.1400T>C	c.(1399-1401)gTa>gCa	p.V467A	RAI14_ENST00000506376.1_Missense_Mutation_p.V459A|RAI14_ENST00000428746.2_Missense_Mutation_p.V467A|RAI14_ENST00000515799.1_Missense_Mutation_p.V470A|RAI14_ENST00000503673.1_Missense_Mutation_p.V467A|RAI14_ENST00000512629.1_Missense_Mutation_p.V438A|RAI14_ENST00000397449.1_Missense_Mutation_p.V460A	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	467						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GCAGAACTGGTATGCTTAAAC	0.438																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1399-1401)gTa>gCa		retinoic acid induced 14							68.0	75.0	72.0					5																	34823347		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823347T>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1400T>C	5.37:g.34823347T>C	ENSP00000265109:p.Val467Ala					RAI14_ENST00000428746.2_Missense_Mutation_p.V467A|RAI14_ENST00000512629.1_Missense_Mutation_p.V438A|RAI14_ENST00000506376.1_Missense_Mutation_p.V459A|RAI14_ENST00000397449.1_Missense_Mutation_p.V460A|RAI14_ENST00000503673.1_Missense_Mutation_p.V467A|RAI14_ENST00000515799.1_Missense_Mutation_p.V470A	p.V467A	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	1687	+	all_lung(31;0.000191)		467					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1400T>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	T	0.077	-1.190686	0.01607	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.54	1.37	0.22104	.	.	.	.	.	T	0.07593	0.0191	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.41142	-0.9525	9	0.09084	T	0.74	-0.5576	1.7344	0.02938	0.3072:0.0855:0.1187:0.4886	.	459;438;470;467	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	A	467;438;467;467;470;459;460	ENSP00000265109:V467A;ENSP00000422377:V438A;ENSP00000388725:V467A;ENSP00000422942:V467A;ENSP00000427123:V470A;ENSP00000423854:V459A;ENSP00000380591:V460A	ENSP00000265109:V467A	V	+	2	0	RAI14	34859104	0.000000	0.05858	0.001000	0.08648	0.944000	0.59088	-1.401000	0.02502	0.333000	0.23563	0.454000	0.30748	GTA		0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		62	71	0	0	0	1	0	62	71				
TMEFF1	8577	broad.mit.edu	37	9	103271366	103271366	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:103271366G>A	ENST00000374879.4	+	3	818	c.386G>A	c.(385-387)tGt>tAt	p.C129Y	TMEFF1_ENST00000334943.6_Missense_Mutation_p.C90Y|MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.L92L	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	129	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AGGGCTGCTTGTAAGCACCAG	0.358																																						ENST00000374879.4																			0				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19						c.(385-387)tGt>tAt		transmembrane protein with EGF-like and two follistatin-like domains 1							107.0	107.0	107.0					9																	103271366		2203	4300	6503	SO:0001583	missense	8577							g.chr9:103271366G>A	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.386G>A	9.37:g.103271366G>A	ENSP00000364013:p.Cys129Tyr					TMEFF1_ENST00000334943.6_Missense_Mutation_p.C90Y|MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.L92L	p.C129Y	NM_003692.4	NP_003683.2					3	818	+		Acute lymphoblastic leukemia(62;0.0452)						Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	c.386G>A	CCDS6750.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204143	0.79127	.	.	ENSG00000241697	ENST00000334943;ENST00000374879	T;T	0.08896	3.04;3.04	5.58	5.58	0.84498	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	T	0.53244	-0.8466	10	0.87932	D	0	-30.7679	17.0587	0.86541	0.0:0.0:1.0:0.0	.	129;90	Q8IYR6;Q8IYR6-2	TEFF1_HUMAN;.	Y	90;129	ENSP00000334447:C90Y;ENSP00000364013:C129Y	ENSP00000334447:C90Y	C	+	2	0	TMEFF1	102311187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.439000	0.90308	2.615000	0.88500	0.650000	0.86243	TGT		0.358	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		19	82	0	0	0	1	0	19	82				
ANKEF1	63926	broad.mit.edu	37	20	10030801	10030801	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:10030801G>T	ENST00000378380.3	+	6	1913	c.1584G>T	c.(1582-1584)ccG>ccT	p.P528P	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.P528P|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	528							calcium ion binding (GO:0005509)										ACAAAACTCCGCTAATGACGG	0.428																																						ENST00000378380.3																			0											c.(1582-1584)ccG>ccT		ankyrin repeat and EF-hand domain containing 1							56.0	58.0	57.0					20																	10030801		2203	4300	6503	SO:0001819	synonymous_variant	63926							g.chr20:10030801G>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1584G>T	20.37:g.10030801G>T						ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.P528P	p.P528P	NM_198798.1	NP_942093.1					6	1913	+								B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	c.1584G>T	CCDS13108.1																																																																																				0.428	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		40	81	1	0	2.45108e-15	1	2.8714e-15	40	81				
CACNG3	10368	broad.mit.edu	37	16	24373118	24373118	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:24373118C>T	ENST00000005284.3	+	4	2084	c.882C>T	c.(880-882)tcC>tcT	p.S294S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	294					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCCACAATTCCACACCCAAAG	0.567																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(880-882)tcC>tcT		calcium channel, voltage-dependent, gamma subunit 3							74.0	78.0	77.0					16																	24373118		2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373118C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.882C>T	16.37:g.24373118C>T							p.S294S	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2084	+			294						Silent	SNP	ENST00000005284.3	37	c.882C>T	CCDS10620.1																																																																																				0.567	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		16	81	0	0	0	1	0	16	81				
FCGR3A	2214	broad.mit.edu	37	1	161512826	161512826	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:161512826C>G	ENST00000436743.1	-	6	895	c.741G>C	c.(739-741)tgG>tgC	p.W247C	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000540048.1_Missense_Mutation_p.W247C|FCGR3A_ENST00000367969.3_Missense_Mutation_p.W283C|FCGR3A_ENST00000443193.1_Missense_Mutation_p.W282C	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	247					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGTCCTTTCTCCATTTAAATT	0.438																																						ENST00000367969.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(847-849)tgG>tgC		Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						135.0	132.0	133.0					1																	161512826		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161512826C>G	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.741G>C	1.37:g.161512826C>G	ENSP00000416607:p.Trp247Cys					FCGR3A_ENST00000540048.1_Missense_Mutation_p.W247C|FCGR3A_ENST00000443193.1_Missense_Mutation_p.W282C|FCGR3A_ENST00000436743.1_Missense_Mutation_p.W247C	p.W283C	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	1032	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		247					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.849G>C	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.40|16.40	3.111590|3.111590	0.56398|0.56398	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	.|T;T;T;T;T	.|0.01548	.|4.78;4.79;4.9;4.9;4.9	4.54|4.54	3.6|3.6	0.41247|0.41247	.|.	.|.	.|.	.|.	.|.	T|T	0.04182|0.04182	0.0116|0.0116	M|M	0.69823|0.69823	2.125|2.125	0.50313|0.50313	D|D	0.999863|0.999863	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76071	.|0.987;0.987	T|T	0.18461|0.18461	-1.0336|-1.0336	5|9	.|0.87932	.|D	.|0	.|.	9.8793|9.8793	0.41222|0.41222	0.2039:0.7961:0.0:0.0|0.2039:0.7961:0.0:0.0	.|.	.|247;282	.|P08637;E9PG94	.|FCG3A_HUMAN;.	A|C	264|283;282;247;247;247	.|ENSP00000356946:W283C;ENSP00000392047:W282C;ENSP00000416607:W247C;ENSP00000356944:W247C;ENSP00000444971:W247C	.|ENSP00000356944:W247C	G|W	-|-	2|3	0|0	FCGR3A|FCGR3A	159779450|159779450	0.928000|0.928000	0.31464|0.31464	0.531000|0.531000	0.27976|0.27976	0.445000|0.445000	0.32107|0.32107	1.728000|1.728000	0.38105|0.38105	1.221000|1.221000	0.43506|0.43506	0.591000|0.591000	0.81541|0.81541	GGA|TGG		0.438	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		18	292	0	0	0	1	0	18	292				
IL16	3603	broad.mit.edu	37	15	81592332	81592332	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:81592332C>A	ENST00000302987.4	+	13	2665	c.2665C>A	c.(2665-2667)Cga>Aga	p.R889R	IL16_ENST00000394652.2_Silent_p.R188R|IL16_ENST00000394660.2_Silent_p.R889R|IL16_ENST00000560230.1_3'UTR			Q14005	IL16_HUMAN	interleukin 16	889			R -> Q (in dbSNP:rs17875512). {ECO:0000269|Ref.8}.		immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACTCTTGGGGCGAGGGGCTGC	0.622																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2665-2667)Cga>Aga		interleukin 16							47.0	51.0	50.0					15																	81592332		2201	4291	6492	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592332C>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2665C>A	15.37:g.81592332C>A						IL16_ENST00000394652.2_Silent_p.R188R|IL16_ENST00000302987.4_Silent_p.R889R|IL16_ENST00000560230.1_3'UTR	p.R889R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3025	+			889		R -> Q (in dbSNP:rs17875512).			A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.2665C>A	CCDS42069.1																																																																																				0.622	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		26	67	1	0	3.28513e-13	1	3.7686e-13	26	67				
ZCCHC13	389874	broad.mit.edu	37	X	73524386	73524386	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:73524386C>T	ENST00000339534.2	+	1	362	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	95							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ATACCTGCGGCAGACTAGGAC	0.512																																						ENST00000339534.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						c.(283-285)ggC>ggT		zinc finger, CCHC domain containing 13							113.0	92.0	99.0					X																	73524386		2203	4300	6503	SO:0001819	synonymous_variant	389874						nucleic acid binding|zinc ion binding	g.chrX:73524386C>T	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.285C>T	X.37:g.73524386C>T							p.G95G	NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN			1	362	+			95						Silent	SNP	ENST00000339534.2	37	c.285C>T	CCDS14425.1																																																																																				0.512	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		17	47	0	0	0	1	0	17	47				
MAP3K19	80122	broad.mit.edu	37	2	135779395	135779395	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:135779395G>C	ENST00000375845.3	-	2	58	c.28C>G	c.(28-30)Cat>Gat	p.H10D	MAP3K19_ENST00000392917.3_Missense_Mutation_p.H10D|MAP3K19_ENST00000375844.3_Missense_Mutation_p.H10D|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.H10D|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H10D|MAP3K19_ENST00000392915.1_Missense_Mutation_p.H27D	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	10							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GACTCAGCATGTCTTTCTATC	0.328																																						ENST00000375845.3																			0											c.(28-30)Cat>Gat		mitogen-activated protein kinase kinase kinase 19							112.0	101.0	104.0					2																	135779395		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135779395G>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.28C>G	2.37:g.135779395G>C	ENSP00000365005:p.His10Asp					MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.H10D|MAP3K19_ENST00000392918.3_Missense_Mutation_p.H10D|MAP3K19_ENST00000392915.1_Missense_Mutation_p.H27D|MAP3K19_ENST00000375844.3_Missense_Mutation_p.H10D|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H10D	p.H10D	NM_025052.3	NP_079328.3					2	58	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.28C>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401573	0.62288	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;D;T;T;T;T	0.83163	-1.01;-1.69;-1.1;-1.14;-0.94;1.34	4.44	4.44	0.53790	.	0.000000	0.38778	N	0.001569	D	0.89368	0.6695	M	0.69823	2.125	0.80722	D	1	P;D;P;D;P;D	0.76494	0.816;0.995;0.884;0.998;0.884;0.999	B;P;P;D;P;D	0.80764	0.339;0.891;0.639;0.948;0.639;0.994	D	0.90266	0.4304	10	0.87932	D	0	.	12.4549	0.55697	0.0:0.0:1.0:0.0	.	10;10;10;27;10;10	B7ZMH9;Q56UN5-3;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	D	10;10;10;10;10;27	ENSP00000365005:H10D;ENSP00000351140:H10D;ENSP00000365004:H10D;ENSP00000376650:H10D;ENSP00000376649:H10D;ENSP00000376647:H27D	ENSP00000351140:H10D	H	-	1	0	YSK4	135495865	0.998000	0.40836	0.997000	0.53966	0.981000	0.71138	1.504000	0.35726	2.313000	0.78055	0.585000	0.79938	CAT		0.328	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		25	64	0	0	0	1	0	25	64				
PHF1	5252	broad.mit.edu	37	6	33382522	33382522	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:33382522T>C	ENST00000374516.3	+	11	1236	c.965T>C	c.(964-966)aTt>aCt	p.I322T	PHF1_ENST00000374512.3_Missense_Mutation_p.I322T	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	322					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGGAGAGAGATTAAGAAGAGG	0.502											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(964-966)aTt>aCt		PHD finger protein 1							130.0	122.0	125.0					6																	33382522		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382522T>C	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.965T>C	6.37:g.33382522T>C	ENSP00000363640:p.Ile322Thr		OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Missense_Mutation_p.I322T	p.I322T	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			11	1236	+		Ovarian(999;0.0443)	322					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.965T>C	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.847894	0.71603	.	.	ENSG00000112511	ENST00000374512;ENST00000374516	T;T	0.24350	1.86;1.86	5.4	5.4	0.78164	.	0.051583	0.64402	D	0.000001	T	0.32793	0.0841	M	0.69358	2.11	0.52501	D	0.999955	D;P	0.54772	0.968;0.895	P;B	0.56042	0.79;0.354	T	0.12760	-1.0535	10	0.72032	D	0.01	-16.1461	13.4183	0.60982	0.0:0.0:0.0:1.0	.	322;322	O43189-2;O43189	.;PHF1_HUMAN	T	322	ENSP00000363636:I322T;ENSP00000363640:I322T	ENSP00000363636:I322T	I	+	2	0	PHF1	33490500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.222000	0.78025	2.268000	0.75426	0.454000	0.30748	ATT		0.502	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			80	179	0	0	0	1	0	80	179				
ZRANB1	54764	broad.mit.edu	37	10	126631073	126631073	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:126631073G>C	ENST00000359653.4	+	1	382	c.11G>C	c.(10-12)cGt>cCt	p.R4P	RP11-298J20.4_ENST00000508096.1_RNA|RP11-298J20.3_ENST00000449984.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	4					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		ATGTCAGAACGTGGAATTAAG	0.388																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(10-12)cGt>cCt		zinc finger, RAN-binding domain containing 1							80.0	77.0	78.0					10																	126631073		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126631073G>C	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.11G>C	10.37:g.126631073G>C	ENSP00000352676:p.Arg4Pro					RP11-298J20.4_ENST00000508096.1_RNA	p.R4P	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	1	382	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	4					B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.11G>C	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321390	0.41096	.	.	ENSG00000019995	ENST00000359653	T	0.41065	1.01	5.76	4.85	0.62838	Zinc finger, RanBP2-type (1);	0.283947	0.41823	D	0.000802	T	0.23965	0.0580	N	0.08118	0	0.37924	D	0.931792	B	0.23891	0.093	B	0.27715	0.082	T	0.13361	-1.0512	10	0.34782	T	0.22	-25.3494	10.1569	0.42827	0.1533:0.0:0.8467:0.0	.	4	Q9UGI0	ZRAN1_HUMAN	P	4	ENSP00000352676:R4P	ENSP00000352676:R4P	R	+	2	0	ZRANB1	126621063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.929000	0.63455	1.409000	0.46915	0.655000	0.94253	CGT		0.388	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		24	72	0	0	0	1	0	24	72				
PLCZ1	89869	broad.mit.edu	37	12	18854659	18854659	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:18854659C>T	ENST00000538330.1	-	5	520	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	PLCZ1_ENST00000266505.7_Missense_Mutation_p.E306K|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E169K|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E113K|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E111K|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E304K					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCATGGGTTTCCTTTAAGGTT	0.378																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(910-912)Gaa>Aaa		phospholipase C, zeta 1							85.0	82.0	83.0					12																	18854659		2203	4298	6501	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18854659C>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.139G>A	12.37:g.18854659C>T	ENSP00000445880:p.Glu47Lys					PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E169K|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E113K|PLCZ1_ENST00000538330.1_Missense_Mutation_p.E47K|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E111K|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E306K	p.E304K	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			8	1179	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		306						Missense_Mutation	SNP	ENST00000538330.1	37	c.910G>A		.	.	.	.	.	.	.	.	.	.	C	7.348	0.622320	0.14193	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.64438	-0.1;0.55;0.55;-0.1;0.55;-0.1;-0.1;0.55;-0.1	5.35	3.5	0.40072	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.256900	0.37623	N	0.002011	T	0.57975	0.2090	L	0.57536	1.79	0.35091	D	0.764322	P;P	0.52577	0.506;0.954	B;P	0.47206	0.051;0.541	T	0.63042	-0.6725	10	0.22706	T	0.39	.	7.6661	0.28432	0.0:0.7461:0.1652:0.0888	.	306;47	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	K	47;306;304;111;169;113;41;47;133	ENSP00000445880:E47K;ENSP00000266505:E306K;ENSP00000402358:E304K;ENSP00000400504:E111K;ENSP00000443349:E169K;ENSP00000445026:E113K;ENSP00000445889:E41K;ENSP00000443762:E47K;ENSP00000438629:E133K	ENSP00000266505:E306K	E	-	1	0	PLCZ1	18745926	0.331000	0.24713	0.646000	0.29493	0.237000	0.25408	0.578000	0.23773	0.730000	0.32425	0.655000	0.94253	GAA		0.378	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		14	53	0	0	0	1	0	14	53				
PYHIN1	149628	broad.mit.edu	37	1	158911997	158911997	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:158911997T>C	ENST00000368140.1	+	5	1055	c.810T>C	c.(808-810)atT>atC	p.I270I	PYHIN1_ENST00000392252.3_Silent_p.I261I|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.I261I|PYHIN1_ENST00000392254.2_Silent_p.I270I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	270	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAATCATCATTATATCAAATT	0.378																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(808-810)atT>atC		pyrin and HIN domain family, member 1							44.0	47.0	46.0					1																	158911997		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158911997T>C	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.810T>C	1.37:g.158911997T>C						PYHIN1_ENST00000368138.3_Silent_p.I261I|PYHIN1_ENST00000392254.2_Silent_p.I270I|PYHIN1_ENST00000392252.3_Silent_p.I261I|PYHIN1_ENST00000485134.1_3'UTR	p.I270I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			5	1055	+	all_hematologic(112;0.0378)		270			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.810T>C	CCDS1178.1																																																																																				0.378	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		30	103	0	0	0	1	0	30	103				
PCDHA8	56140	broad.mit.edu	37	5	140222682	140222682	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140222682G>A	ENST00000531613.1	+	1	1776	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A592A|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	592	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGGTAGCGAAGGTGCGCG	0.697																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1774-1776)gcG>gcA									67.0	69.0	68.0					5																	140222682		2196	4263	6459	SO:0001819	synonymous_variant	56140							g.chr5:140222682G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1776G>A	5.37:g.140222682G>A						PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.A592A	p.A592A	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1776	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1776G>A	CCDS54919.1																																																																																				0.697	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		50	45	0	0	0	1	0	50	45				
ZHX1	11244	broad.mit.edu	37	8	124268127	124268127	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:124268127T>A	ENST00000522655.1	-	3	600	c.60A>T	c.(58-60)ccA>ccT	p.P20P	ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Silent_p.P20P|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Silent_p.P20P			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	20					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCAAGGTCTGGATCTTGTT	0.438																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(58-60)ccA>ccT		zinc fingers and homeoboxes 1							160.0	146.0	151.0					8																	124268127		2203	4300	6503	SO:0001819	synonymous_variant	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124268127T>A	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.60A>T	8.37:g.124268127T>A						ZHX1_ENST00000297857.2_Silent_p.P20P|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000522655.1_Silent_p.P20P|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.P20P	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	677	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		20					Q8IWD8	Silent	SNP	ENST00000522655.1	37	c.60A>T	CCDS6342.1																																																																																				0.438	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			53	209	0	0	0	1	0	53	209				
CLK2	1196	broad.mit.edu	37	1	155240681	155240681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:155240681G>A	ENST00000368361.4	-	2	403	c.88C>T	c.(88-90)Cga>Tga	p.R30*	CLK2_ENST00000361168.5_Nonsense_Mutation_p.R30*|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000536801.1_Nonsense_Mutation_p.R30*|CLK2_ENST00000355560.4_Nonsense_Mutation_p.R30*			P49760	CLK2_HUMAN	CDC-like kinase 2	30					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGACTTCTTCGTCGCTTATGC	0.592								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(88-90)Cga>Tga	Other conserved DNA damage response genes	CDC-like kinase 2							129.0	119.0	123.0					1																	155240681		2203	4300	6503	SO:0001587	stop_gained	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240681G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.88C>T	1.37:g.155240681G>A	ENSP00000357345:p.Arg30*					CLK2_ENST00000361168.5_Nonsense_Mutation_p.R30*|CLK2_ENST00000355560.4_Nonsense_Mutation_p.R30*|CLK2_ENST00000536801.1_Nonsense_Mutation_p.R30*	p.R30*			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	403	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		30					B1AVS9|B5MBX6|Q96CQ0	Nonsense_Mutation	SNP	ENST00000368361.4	37	c.88C>T		.	.	.	.	.	.	.	.	.	.	.	35	5.451570	0.96205	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	.	.	.	4.58	2.56	0.30785	.	0.060864	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0562	0.47920	0.0:0.0:0.5137:0.4863	.	.	.	.	X	30	.	ENSP00000347759:R30X	R	-	1	2	CLK2	153507305	0.929000	0.31497	1.000000	0.80357	0.996000	0.88848	1.238000	0.32707	0.471000	0.27319	0.549000	0.68633	CGA		0.592	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		8	113	0	0	0	1	0	8	113				
IDO1	3620	broad.mit.edu	37	8	39775664	39775664	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:39775664C>G	ENST00000518237.1	+	3	880	c.241C>G	c.(241-243)Cta>Gta	p.L81V	IDO1_ENST00000522495.1_Missense_Mutation_p.L81V|RP11-44K6.2_ENST00000520185.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	81					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	CCTTGCACGTCTAGTTCTGGG	0.428																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(241-243)Cta>Gta		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						152.0	146.0	148.0					8																	39775664		1996	4181	6177	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39775664C>G	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.241C>G	8.37:g.39775664C>G	ENSP00000430950:p.Leu81Val					RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.L81V	p.L81V	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			3	880	+			81					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.241C>G	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942369	0.34283	.	.	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.43688	0.94;0.94;0.94	5.65	0.792	0.18625	.	0.000000	0.50627	D	0.000120	T	0.51568	0.1682	L	0.52126	1.63	0.28238	N	0.925825	D	0.76494	0.999	D	0.83275	0.996	T	0.44375	-0.9332	9	.	.	.	-13.7962	8.325	0.32151	0.0:0.6146:0.0:0.3854	.	81	P14902	I23O1_HUMAN	V	81	ENSP00000428716:L81V;ENSP00000430505:L81V;ENSP00000430950:L81V	.	L	+	1	2	IDO1	39894821	0.975000	0.34042	0.003000	0.11579	0.067000	0.16453	0.980000	0.29513	-0.134000	0.11516	0.585000	0.79938	CTA		0.428	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		17	153	0	0	0	1	0	17	153				
ACACB	32	broad.mit.edu	37	12	109629428	109629428	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:109629428G>T	ENST00000338432.7	+	14	2274	c.2155G>T	c.(2155-2157)Gtg>Ttg	p.V719L	ACACB_ENST00000377848.3_Missense_Mutation_p.V719L|ACACB_ENST00000377854.5_Missense_Mutation_p.V719L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	719	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAACATGGTGGTGGCTTTGAA	0.463																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2155-2157)Gtg>Ttg		acetyl-CoA carboxylase beta	Biotin(DB00121)						171.0	155.0	161.0					12																	109629428		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109629428G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2155G>T	12.37:g.109629428G>T	ENSP00000341044:p.Val719Leu					ACACB_ENST00000377854.5_Missense_Mutation_p.V719L|ACACB_ENST00000377848.3_Missense_Mutation_p.V719L	p.V719L			O00763	ACACB_HUMAN			14	2274	+			719			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2155G>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011619	0.54468	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.81078	-1.45;-1.45;-1.45	5.34	4.45	0.53987	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.130249	0.51477	D	0.000085	T	0.79902	0.4526	N	0.12502	0.225	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	T	0.81070	-0.1099	10	0.41790	T	0.15	.	13.8929	0.63750	0.0732:0.0:0.9268:0.0	.	719	O00763	ACACB_HUMAN	L	719	ENSP00000341044:V719L;ENSP00000367079:V719L;ENSP00000367085:V719L	ENSP00000341044:V719L	V	+	1	0	ACACB	108113811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.030000	0.88816	1.283000	0.44513	0.644000	0.83932	GTG		0.463	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		23	69	1	0	4.59853e-10	1	5.09272e-10	23	69				
DYNC2H1	79659	broad.mit.edu	37	11	103027225	103027225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:103027225C>T	ENST00000375735.2	+	26	3997	c.3853C>T	c.(3853-3855)Caa>Taa	p.Q1285*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Q1285*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1285	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAAGACAGCCAAAGTCGAAC	0.378																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(3853-3855)Caa>Taa		dynein, cytoplasmic 2, heavy chain 1							92.0	92.0	92.0					11																	103027225		1840	4096	5936	SO:0001587	stop_gained	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027225C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3853C>T	11.37:g.103027225C>T	ENSP00000364887:p.Gln1285*					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Q1285*	p.Q1285*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	3997	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1285			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	c.3853C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	42	9.783025	0.99263	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.27	5.27	0.74061	.	1.576480	0.04251	N	0.338669	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	18.8855	0.92376	0.0:1.0:0.0:0.0	.	.	.	.	X	1285	.	ENSP00000364887:Q1285X	Q	+	1	0	DYNC2H1	102532435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.632000	0.67819	2.472000	0.83506	0.563000	0.77884	CAA		0.378	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		21	112	0	0	0	1	0	21	112				
OR6K6	128371	broad.mit.edu	37	1	158724915	158724915	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:158724915A>C	ENST00000368144.2	+	1	406	c.310A>C	c.(310-312)Acc>Ccc	p.T104P		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTATACCACAACCACCATCCC	0.493																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(310-312)Acc>Ccc		olfactory receptor, family 6, subfamily K, member 6							132.0	131.0	131.0					1																	158724915		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724915A>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.310A>C	1.37:g.158724915A>C	ENSP00000357126:p.Thr104Pro						p.T104P	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	406	+	all_hematologic(112;0.0378)		104					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.310A>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183149	0.57800	.	.	ENSG00000180433	ENST00000368144	T	0.00441	7.41	5.48	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.169796	0.28036	N	0.016850	T	0.00300	0.0009	M	0.82056	2.57	0.32677	N	0.515996	P	0.52692	0.955	P	0.49597	0.616	T	0.53251	-0.8465	10	0.56958	D	0.05	-14.3713	8.1091	0.30903	0.8407:0.0:0.1593:0.0	.	104	Q8NGW6	OR6K6_HUMAN	P	104	ENSP00000357126:T104P	ENSP00000357126:T104P	T	+	1	0	OR6K6	156991539	0.000000	0.05858	0.992000	0.48379	0.988000	0.76386	-0.466000	0.06672	1.057000	0.40506	0.533000	0.62120	ACC		0.493	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		24	139	0	0	0	1	0	24	139				
IL18R1	8809	broad.mit.edu	37	2	103012989	103012989	+	Splice_Site	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:103012989A>T	ENST00000409599.1	+	12	1626		c.e12-1		IL18R1_ENST00000233957.1_Splice_Site			Q13478	IL18R_HUMAN	interleukin 18 receptor 1						immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGCATTTTCAGCTGTTGTTG	0.338																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.e12-1		interleukin 18 receptor 1							38.0	40.0	39.0					2																	103012989		2202	4296	6498	SO:0001630	splice_region_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103012989A>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1271-1A>T	2.37:g.103012989A>T						IL18R1_ENST00000233957.1_Splice_Site				Q13478	IL18R_HUMAN			12	1626	+								B2R9Y5|Q52LC9	Splice_Site	SNP	ENST00000409599.1	37		CCDS2060.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770402	0.69992	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3385	0.74277	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL18R1	102379421	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	6.361000	0.73070	2.084000	0.62774	0.460000	0.39030	.		0.338	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	Intron	29	32	0	0	0	1	0	29	32				
USP35	57558	broad.mit.edu	37	11	77921127	77921127	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:77921127G>A	ENST00000529308.1	+	10	2487	c.2226G>A	c.(2224-2226)ccG>ccA	p.P742P	USP35_ENST00000530267.1_Silent_p.P310P|USP35_ENST00000526425.1_Silent_p.P473P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.P328P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	742	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGACCCACCCGGATGCTGCCA	0.607																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(2224-2226)ccG>ccA		ubiquitin specific peptidase 35							60.0	75.0	71.0					11																	77921127		2009	4160	6169	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921127G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2226G>A	11.37:g.77921127G>A						USP35_ENST00000530267.1_Silent_p.P310P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.P473P|USP35_ENST00000441408.2_Silent_p.P328P	p.P742P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2487	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		742						Silent	SNP	ENST00000529308.1	37	c.2226G>A	CCDS41693.1																																																																																				0.607	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		14	96	0	0	0	1	0	14	96				
CDKAL1	54901	broad.mit.edu	37	6	20846391	20846391	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:20846391G>A	ENST00000378610.1	+	7	734	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	CDKAL1_ENST00000378624.4_Missense_Mutation_p.A172T|CDKAL1_ENST00000274695.4_Missense_Mutation_p.A242T			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	242					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGTAGATAGAGCCAAACAATC	0.328																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(724-726)Gcc>Acc		CDK5 regulatory subunit associated protein 1-like 1							66.0	68.0	67.0					6																	20846391		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20846391G>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.724G>A	6.37:g.20846391G>A	ENSP00000367873:p.Ala242Thr					CDKAL1_ENST00000378624.4_Missense_Mutation_p.A172T|CDKAL1_ENST00000378610.1_Missense_Mutation_p.A242T	p.A242T	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		9	891	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		242					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.724G>A	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380574	0.61845	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	D;D;D	0.82167	-1.58;-1.58;-1.58	5.69	5.69	0.88448	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.117107	0.56097	D	0.000027	T	0.79736	0.4497	L	0.61218	1.895	0.45946	D	0.998777	P;B	0.39424	0.673;0.314	B;B	0.44224	0.444;0.248	T	0.82084	-0.0632	10	0.56958	D	0.05	.	14.035	0.64640	0.0722:0.0:0.9278:0.0	.	172;242	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	T	242;172;242	ENSP00000274695:A242T;ENSP00000367889:A172T;ENSP00000367873:A242T	ENSP00000274695:A242T	A	+	1	0	CDKAL1	20954370	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.203000	0.72137	2.689000	0.91719	0.460000	0.39030	GCC		0.328	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		10	62	0	0	0	1	0	10	62				
CASKIN1	57524	broad.mit.edu	37	16	2228994	2228994	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:2228994G>A	ENST00000343516.6	-	19	4200	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1370					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGTTTCTGCCGGGCGCTGTCC	0.806																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(4108-4110)Cgg>Tgg		CASK interacting protein 1							3.0	3.0	3.0					16																	2228994		1163	2658	3821	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2228994G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.4108C>T	16.37:g.2228994G>A	ENSP00000345436:p.Arg1370Trp						p.R1370W	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			19	4200	-			1370					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.4108C>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	g	12.41	1.928290	0.34002	.	.	ENSG00000167971	ENST00000343516	T	0.68025	-0.3	3.14	-2.26	0.06867	.	.	.	.	.	T	0.46983	0.1421	N	0.14661	0.345	0.26494	N	0.974888	B	0.10296	0.003	B	0.04013	0.001	T	0.32719	-0.9896	9	0.87932	D	0	-3.2163	10.7821	0.46384	0.0:0.0:0.3837:0.6163	.	1370	Q8WXD9	CSKI1_HUMAN	W	1370	ENSP00000345436:R1370W	ENSP00000345436:R1370W	R	-	1	2	CASKIN1	2168995	0.984000	0.35163	0.533000	0.28001	0.237000	0.25408	1.261000	0.32980	-0.772000	0.04602	0.176000	0.17051	CGG		0.806	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		3	2	0	0	0	1	0	3	2				
ROBO2	6092	broad.mit.edu	37	3	77530290	77530290	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:77530290G>C	ENST00000461745.1	+	4	1487	c.587G>C	c.(586-588)aGt>aCt	p.S196T	ROBO2_ENST00000332191.8_Missense_Mutation_p.S196T|ROBO2_ENST00000487694.3_Missense_Mutation_p.S212T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	196	Ig-like C2-type 2.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCAGGAAAAGTGATGCAGGG	0.383																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(586-588)aGt>aCt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							170.0	166.0	167.0					3																	77530290		1848	4096	5944	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77530290G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.587G>C	3.37:g.77530290G>C	ENSP00000417164:p.Ser196Thr					ROBO2_ENST00000487694.3_Missense_Mutation_p.S212T|ROBO2_ENST00000332191.8_Missense_Mutation_p.S196T	p.S196T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	4	1487	+			196			Ig-like C2-type 2.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.587G>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366129	0.61513	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.42900	0.96;0.96;0.96	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.238510	0.28641	N	0.014628	T	0.43656	0.1257	L	0.33093	0.98	0.38852	D	0.956296	B;B;B	0.33379	0.201;0.167;0.41	B;B;B	0.40375	0.168;0.104;0.327	T	0.29941	-0.9995	9	0.42905	T	0.14	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	212;196;196	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	T	212;212;212;196;196	ENSP00000417335:S212T;ENSP00000417164:S196T;ENSP00000327536:S196T	ENSP00000327536:S196T	S	+	2	0	ROBO2	77612980	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.361000	0.73070	2.798000	0.96311	0.655000	0.94253	AGT		0.383	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		40	89	0	0	0	1	0	40	89				
PXMP2	5827	broad.mit.edu	37	12	133266890	133266890	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:133266890T>A	ENST00000317479.3	+	2	229	c.164T>A	c.(163-165)aTt>aAt	p.I55N	PXMP2_ENST00000545677.1_5'UTR|POLE_ENST00000320574.5_5'Flank|PXMP2_ENST00000539093.1_5'UTR|POLE_ENST00000535270.1_5'Flank|PXMP2_ENST00000543589.1_Missense_Mutation_p.I55N|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000428960.2_5'Flank	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	55						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCCCAGATGATTGAGAAGAAG	0.517																																						ENST00000317479.3																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(163-165)aTt>aAt		peroxisomal membrane protein 2, 22kDa							119.0	115.0	116.0					12																	133266890		2203	4300	6503	SO:0001583	missense	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133266890T>A		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.164T>A	12.37:g.133266890T>A	ENSP00000321271:p.Ile55Asn					PXMP2_ENST00000539093.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000545677.1_5'UTR|PXMP2_ENST00000543589.1_Missense_Mutation_p.I55N	p.I55N	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	2	229	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		55						Missense_Mutation	SNP	ENST00000317479.3	37	c.164T>A	CCDS9279.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168417	0.57584	.	.	ENSG00000176894	ENST00000317479;ENST00000543589	D	0.90955	-2.76	4.75	4.75	0.60458	.	0.393637	0.27618	N	0.018571	D	0.93103	0.7804	M	0.84948	2.725	0.80722	D	1	D	0.56521	0.976	P	0.51016	0.656	D	0.93718	0.7030	10	0.66056	D	0.02	.	12.2246	0.54453	0.0:0.0:0.0:1.0	.	55	Q9NR77	PXMP2_HUMAN	N	55	ENSP00000321271:I55N	ENSP00000321271:I55N	I	+	2	0	PXMP2	131776963	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	2.868000	0.48436	1.786000	0.52430	0.379000	0.24179	ATT		0.517	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		4	121	0	0	0	1	0	4	121				
TMPRSS2	7113	broad.mit.edu	37	21	42866334	42866334	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:42866334G>C	ENST00000332149.5	-	3	321	c.187C>G	c.(187-189)Ccc>Gcc	p.P63A	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.P100A|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.P63A	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	63					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CAGACGACGGGGTTGGAAGCC	0.612			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(298-300)Ccc>Gcc		transmembrane protease, serine 2							67.0	62.0	64.0					21																	42866334		2203	4300	6503	SO:0001583	missense	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42866334G>C	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.187C>G	21.37:g.42866334G>C	ENSP00000330330:p.Pro63Ala					TMPRSS2_ENST00000458356.1_Missense_Mutation_p.P63A|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.P63A|TMPRSS2_ENST00000497881.1_Intron	p.P100A	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			3	358	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	63					A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.298C>G	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822021	0.32237	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093;ENST00000455813	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	4.92	4.02	0.46733	.	0.152177	0.30293	N	0.009944	T	0.27384	0.0672	M	0.65498	2.005	0.09310	N	1	P;B	0.43662	0.814;0.329	P;B	0.44696	0.458;0.122	T	0.12167	-1.0558	10	0.59425	D	0.04	.	9.9572	0.41675	0.0967:0.0:0.9033:0.0	.	100;63	F8WES1;O15393	.;TMPS2_HUMAN	A	63;100;63;63;63;63	ENSP00000330330:P63A;ENSP00000381588:P100A;ENSP00000391216:P63A;ENSP00000389006:P63A;ENSP00000397846:P63A	ENSP00000330330:P63A	P	-	1	0	TMPRSS2	41788204	0.353000	0.24904	0.007000	0.13788	0.004000	0.04260	1.888000	0.39708	1.162000	0.42619	0.650000	0.86243	CCC		0.612	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			14	40	0	0	0	1	0	14	40				
ADAMTS4	9507	broad.mit.edu	37	1	161166601	161166601	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:161166601C>T	ENST00000367996.5	-	2	1131	c.703G>A	c.(703-705)Ggt>Agt	p.G235S	ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.G235S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	235	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	AGCCCCGCACCGTGGAATGCG	0.547																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(703-705)Ggt>Agt		ADAM metallopeptidase with thrombospondin type 1 motif, 4							192.0	188.0	190.0					1																	161166601		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161166601C>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.703G>A	1.37:g.161166601C>T	ENSP00000356975:p.Gly235Ser					ADAMTS4_ENST00000367995.3_Missense_Mutation_p.G235S	p.G235S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		2	1131	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		235			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.703G>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448765	0.84101	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	D;D	0.88431	-2.38;-2.38	4.64	4.64	0.57946	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.183579	0.36519	N	0.002555	D	0.91526	0.7324	M	0.70903	2.155	0.58432	D	0.999994	D;P	0.89917	1.0;0.647	P;P	0.58520	0.84;0.487	D	0.92576	0.6070	10	0.87932	D	0	.	16.5111	0.84286	0.0:1.0:0.0:0.0	.	235;235	Q5VTW1;O75173	.;ATS4_HUMAN	S	235	ENSP00000356975:G235S;ENSP00000356974:G235S	ENSP00000356974:G235S	G	-	1	0	ADAMTS4	159433225	0.998000	0.40836	0.075000	0.20258	0.713000	0.41058	4.725000	0.61979	2.418000	0.82041	0.650000	0.86243	GGT		0.547	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		5	404	0	0	0	1	0	5	404				
KRTAP19-3	337970	broad.mit.edu	37	21	31864177	31864177	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:31864177G>C	ENST00000334063.4	-	1	98	c.99C>G	c.(97-99)cgC>cgG	p.R33R		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	33						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AACCCAGTCTGCGGAAGCTGC	0.582																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(97-99)cgC>cgG		keratin associated protein 19-3							150.0	155.0	154.0					21																	31864177		2203	4300	6503	SO:0001819	synonymous_variant	337970					intermediate filament		g.chr21:31864177G>C	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.99C>G	21.37:g.31864177G>C							p.R33R	NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN			1	98	-			33						Silent	SNP	ENST00000334063.4	37	c.99C>G	CCDS13596.1																																																																																				0.582	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			92	224	0	0	0	1	0	92	224				
MYH8	4626	broad.mit.edu	37	17	10318495	10318495	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:10318495C>T	ENST00000403437.2	-	9	837	c.743G>A	c.(742-744)gGt>gAt	p.G248D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	248	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AATGAATTTACCCTTGAAAAG	0.363									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e9-1		myosin, heavy chain 8, skeletal muscle, perinatal							110.0	120.0	117.0					17																	10318495		2203	4300	6503	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318495C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.742-1G>A	17.37:g.10318495C>T						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.G248_splice	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			9	837	-			248			Myosin head-like.		Q14910	Splice_Site	SNP	ENST00000403437.2	37	c.741_splice	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186281	0.78789	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.93247	-3.19	4.14	4.14	0.48551	Myosin head, motor domain (3);	0.000000	0.42548	U	0.000687	D	0.98595	0.9530	H	0.99940	5	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.99157	1.0860	10	0.87932	D	0	.	16.9389	0.86210	0.0:1.0:0.0:0.0	.	248	P13535	MYH8_HUMAN	D	248	ENSP00000384330:G248D	ENSP00000252173:G248D	G	-	2	0	MYH8	10259220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.522000	0.81844	2.308000	0.77769	0.591000	0.81541	GGT		0.363	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Missense_Mutation	35	135	0	0	0	1	0	35	135				
EYS	346007	broad.mit.edu	37	6	66115122	66115122	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:66115122C>A	ENST00000370621.3	-	6	1527	c.1001G>T	c.(1000-1002)aGt>aTt	p.S334I	EYS_ENST00000342421.5_Missense_Mutation_p.S334I|EYS_ENST00000503581.1_Missense_Mutation_p.S334I|EYS_ENST00000393380.2_Missense_Mutation_p.S334I|EYS_ENST00000370616.2_Missense_Mutation_p.S334I|EYS_ENST00000370618.3_Missense_Mutation_p.S334I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	334	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGAAAACTCACTGACATCAGT	0.343																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1000-1002)aGt>aTt		eyes shut homolog (Drosophila)							125.0	125.0	125.0					6																	66115122		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115122C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1001G>T	6.37:g.66115122C>A	ENSP00000359655:p.Ser334Ile					EYS_ENST00000342421.5_Missense_Mutation_p.S334I|EYS_ENST00000370621.3_Missense_Mutation_p.S334I|EYS_ENST00000370618.3_Missense_Mutation_p.S334I|EYS_ENST00000370616.2_Missense_Mutation_p.S334I|EYS_ENST00000393380.2_Missense_Mutation_p.S334I	p.S334I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			6	1538	-			334			EGF-like 4.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1001G>T		.	.	.	.	.	.	.	.	.	.	C	10.16	1.274837	0.23307	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;T;T;T	0.86497	-2.13;-2.13;-2.13;1.49;1.49;1.49	4.89	-0.88	0.10610	.	.	.	.	.	T	0.60104	0.2243	N	0.25825	0.765	0.09310	N	1	B;B;B	0.22983	0.032;0.078;0.047	B;B;B	0.24155	0.023;0.051;0.037	T	0.54132	-0.8339	9	0.87932	D	0	.	3.7553	0.08582	0.1509:0.2576:0.0:0.5915	.	334;334;334	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	334	ENSP00000424243:S334I;ENSP00000359655:S334I;ENSP00000359650:S334I;ENSP00000377042:S334I;ENSP00000341818:S334I;ENSP00000359652:S334I	ENSP00000341818:S334I	S	-	2	0	EYS	66171843	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.004000	0.13106	-0.344000	0.08338	-0.670000	0.03821	AGT		0.343	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		38	135	1	0	5.43694e-19	1	6.58497e-19	38	135				
MAP3K12	7786	broad.mit.edu	37	12	53876790	53876790	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:53876790C>T	ENST00000267079.2	-	12	1923	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V	MAP3K12_ENST00000547488.1_Silent_p.V599V|MAP3K12_ENST00000547035.1_Silent_p.V599V	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	566					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CATGGGGTGGCACAGCTGTAC	0.701																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1696-1698)gtG>gtA		mitogen-activated protein kinase kinase kinase 12							26.0	30.0	28.0					12																	53876790		2203	4300	6503	SO:0001819	synonymous_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876790C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1698G>A	12.37:g.53876790C>T						MAP3K12_ENST00000547488.1_Silent_p.V599V|MAP3K12_ENST00000547035.1_Silent_p.V599V	p.V566V	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	1923	-			566					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.1698G>A	CCDS8860.1																																																																																				0.701	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		13	26	0	0	0	1	0	13	26				
CNNM4	26504	broad.mit.edu	37	2	97427779	97427779	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:97427779C>T	ENST00000377075.2	+	1	1141	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	348	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTGAAGGTGACGGAGCCCTAT	0.507																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1042-1044)aCg>aTg		cyclin M4							93.0	87.0	89.0					2																	97427779		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427779C>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1043C>T	2.37:g.97427779C>T	ENSP00000366275:p.Thr348Met						p.T348M	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	1141	+			348			DUF21.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1043C>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335791	0.60853	.	.	ENSG00000158158	ENST00000377075	D	0.88431	-2.38	5.03	3.18	0.36537	Domain of unknown function DUF21 (1);	0.109140	0.64402	D	0.000010	D	0.93510	0.7929	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92453	0.5971	10	0.87932	D	0	-22.2991	9.2095	0.37309	0.0:0.7707:0.1473:0.082	.	348	Q6P4Q7	CNNM4_HUMAN	M	348	ENSP00000366275:T348M	ENSP00000366275:T348M	T	+	2	0	CNNM4	96791506	1.000000	0.71417	0.938000	0.37757	0.985000	0.73830	6.035000	0.70940	0.490000	0.27771	0.655000	0.94253	ACG		0.507	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		72	232	0	0	0	1	0	72	232				
RUNX1T1	862	broad.mit.edu	37	8	93003933	93003933	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:93003933G>T	ENST00000523629.1	-	7	1379	c.925C>A	c.(925-927)Cac>Aac	p.H309N	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H320N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H272N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H309N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H282N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H282N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H272N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H272N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	309					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H272N(1)|p.H320N(1)|p.H309N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGTAGTGGTGGGCAATGGCC	0.542																																						ENST00000523629.1																			3	Substitution - Missense(3)	p.H272N(1)|p.H320N(1)|p.H309N(1)	lung(3)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(925-927)Cac>Aac		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							224.0	184.0	197.0					8																	93003933		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93003933G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.925C>A	8.37:g.93003933G>T	ENSP00000428543:p.His309Asn					RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H272N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H309N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H272N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H320N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H282N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H282N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H272N	p.H309N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1379	-			309					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.925C>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313164	0.95655	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.35421	1.34;1.31;1.34;1.32;1.32;1.32;1.33;1.31	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.62816	0.2459	M	0.78637	2.42	0.80722	D	1	D;P;D	0.63046	0.992;0.885;0.99	P;P;D	0.68483	0.811;0.468;0.958	T	0.55049	-0.8201	10	0.32370	T	0.25	-21.2245	20.4745	0.99168	0.0:0.0:1.0:0.0	.	320;309;282	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	N	309;282;309;272;272;272;320;282	ENSP00000428543:H309N;ENSP00000379520:H282N;ENSP00000265814:H309N;ENSP00000353504:H272N;ENSP00000390137:H272N;ENSP00000428742:H272N;ENSP00000402257:H320N;ENSP00000430728:H282N	ENSP00000265814:H309N	H	-	1	0	RUNX1T1	93073109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CAC		0.542	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		36	118	1	0	4.65686e-17	1	5.51925e-17	36	118				
LIPE	3991	broad.mit.edu	37	19	42914537	42914537	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:42914537C>T	ENST00000244289.4	-	2	1617	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	447					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CGGTGAGCCCCTCGTCGCCCT	0.662																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1339-1341)gaG>gaA		lipase, hormone-sensitive							33.0	34.0	33.0					19																	42914537		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42914537C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1341G>A	19.37:g.42914537C>T						LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	p.E447E	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			2	1617	-		Prostate(69;0.00682)	447					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1341G>A	CCDS12607.1																																																																																				0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		23	13	0	0	0	1	0	23	13				
GRID1	2894	broad.mit.edu	37	10	87373344	87373344	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:87373344G>T	ENST00000327946.7	-	15	2506	c.2421C>A	c.(2419-2421)caC>caA	p.H807Q	GRID1_ENST00000552278.2_5'Flank|GRID1_ENST00000536331.1_Missense_Mutation_p.H378Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	807					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGCGGCCCATGTGCGGCCACC	0.607										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2419-2421)caC>caA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						69.0	75.0	73.0					10																	87373344		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373344G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2421C>A	10.37:g.87373344G>T	ENSP00000330148:p.His807Gln	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.H378Q	p.H807Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			15	2506	-			807					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2421C>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783704	0.31593	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.10477	2.87;2.87	5.59	3.58	0.41010	Ionotropic glutamate receptor (2);	0.358481	0.29307	N	0.012536	T	0.04543	0.0124	N	0.02802	-0.49	0.31263	N	0.69267	B	0.12013	0.005	B	0.16722	0.016	T	0.05484	-1.0882	10	0.51188	T	0.08	.	8.6447	0.33998	0.0877:0.2846:0.6277:0.0	.	807	Q9ULK0	GRID1_HUMAN	Q	807;378	ENSP00000330148:H807Q;ENSP00000444455:H378Q	ENSP00000330148:H807Q	H	-	3	2	GRID1	87363324	0.024000	0.19004	0.717000	0.30585	0.947000	0.59692	-0.294000	0.08309	2.635000	0.89317	0.650000	0.86243	CAC		0.607	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		29	72	1	0	2.85442e-18	1	3.42305e-18	29	72				
ZNF862	643641	broad.mit.edu	37	7	149558815	149558815	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:149558815G>C	ENST00000223210.4	+	7	2811	c.2566G>C	c.(2566-2568)Gag>Cag	p.E856Q	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	856					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCTCTGTCCGAGGTGTGCCA	0.607																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(2566-2568)Gag>Cag		zinc finger protein 862							26.0	29.0	28.0					7																	149558815		2086	4212	6298	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558815G>C	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2566G>C	7.37:g.149558815G>C	ENSP00000223210:p.Glu856Gln						p.E856Q	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	2811	+			856					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2566G>C	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747088	0.49257	.	.	ENSG00000106479	ENST00000223210	T	0.22945	1.93	5.38	4.49	0.54785	.	0.000000	0.53938	D	0.000045	T	0.19446	0.0467	L	0.32530	0.975	0.24991	N	0.99154	B	0.32781	0.384	B	0.33196	0.159	T	0.12734	-1.0536	10	0.22706	T	0.39	-24.8403	12.098	0.53765	0.0:0.1727:0.8273:0.0	.	856	O60290	ZN862_HUMAN	Q	856	ENSP00000223210:E856Q	ENSP00000223210:E856Q	E	+	1	0	ZNF862	149189748	0.996000	0.38824	0.980000	0.43619	0.970000	0.65996	2.722000	0.47269	1.256000	0.44068	0.650000	0.86243	GAG		0.607	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		15	19	0	0	0	1	0	15	19				
PREX1	57580	broad.mit.edu	37	20	47361678	47361678	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:47361678A>T	ENST00000371941.3	-	3	320	c.298T>A	c.(298-300)Ttc>Atc	p.F100I	PREX1_ENST00000396220.1_Missense_Mutation_p.F100I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	100	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGTTCGAGAACAGGACCTGT	0.507																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(298-300)Ttc>Atc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							142.0	147.0	146.0					20																	47361678		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47361678A>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.298T>A	20.37:g.47361678A>T	ENSP00000361009:p.Phe100Ile					PREX1_ENST00000371941.3_Missense_Mutation_p.F100I	p.F100I			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		3	320	-			100			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.298T>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914051	0.72983	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	D;D	0.84223	-1.82;-1.82	4.98	4.98	0.66077	Dbl homology (DH) domain (5);	0.000000	0.51477	U	0.000087	D	0.94466	0.8219	H	0.96720	3.87	0.80722	D	1	D	0.59767	0.986	D	0.64877	0.93	D	0.96158	0.9113	10	0.87932	D	0	.	14.5046	0.67743	1.0:0.0:0.0:0.0	.	100	Q8TCU6	PREX1_HUMAN	I	100	ENSP00000361009:F100I;ENSP00000379522:F100I	ENSP00000361009:F100I	F	-	1	0	PREX1	46795085	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	8.307000	0.89964	2.093000	0.63338	0.533000	0.62120	TTC		0.507	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		58	258	0	0	0	1	0	58	258				
TMC7	79905	broad.mit.edu	37	16	19070773	19070773	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:19070773C>G	ENST00000304381.5	+	15	2193	c.2063C>G	c.(2062-2064)gCa>gGa	p.A688G	TMC7_ENST00000421369.3_Missense_Mutation_p.A578G|TMC7_ENST00000569532.1_Missense_Mutation_p.A688G	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	688					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTAGCTGGAGCACACAAACGG	0.502																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1732-1734)gCa>gGa		transmembrane channel-like 7							191.0	168.0	176.0					16																	19070773		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19070773C>G	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2063C>G	16.37:g.19070773C>G	ENSP00000304710:p.Ala688Gly					TMC7_ENST00000569532.1_Missense_Mutation_p.A688G|TMC7_ENST00000304381.5_Missense_Mutation_p.A688G	p.A578G	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			15	2291	+			688					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1733C>G	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460531	0.84317	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.72835	-0.61;-0.69	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.69523	2.12	0.53688	D	0.99997	P;P	0.51653	0.947;0.947	P;P	0.51701	0.677;0.677	T	0.77267	-0.2651	10	0.37606	T	0.19	.	17.3781	0.87398	0.0:1.0:0.0:0.0	.	688;688	Q7Z402;B3KSZ3	TMC7_HUMAN;.	G	688;578	ENSP00000304710:A688G;ENSP00000397081:A578G	ENSP00000304710:A688G	A	+	2	0	TMC7	18978274	0.999000	0.42202	0.993000	0.49108	0.783000	0.44284	5.281000	0.65609	2.636000	0.89361	0.655000	0.94253	GCA		0.502	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		22	114	0	0	0	1	0	22	114				
ETV1	2115	broad.mit.edu	37	7	13935563	13935563	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:13935563A>G	ENST00000430479.1	-	14	2029	c.1362T>C	c.(1360-1362)gaT>gaC	p.D454D	ETV1_ENST00000405192.2_Silent_p.D431D|ETV1_ENST00000403685.1_Silent_p.D436D|ETV1_ENST00000403527.1_Silent_p.D414D|ETV1_ENST00000405358.4_Silent_p.D468D|ETV1_ENST00000405218.2_Silent_p.D454D|ETV1_ENST00000420159.2_Silent_p.D396D|ETV1_ENST00000242066.5_Silent_p.D436D|ETV1_ENST00000343495.5_Silent_p.D436D|ETV1_ENST00000399357.3_Silent_p.D351D	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	454					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCATGCTCTCATCAAAGTGAG	0.517			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1306-1308)gaT>gaC		ets variant 1							79.0	74.0	75.0					7																	13935563		2034	4190	6224	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13935563A>G		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1362T>C	7.37:g.13935563A>G						ETV1_ENST00000405358.4_Silent_p.D468D|ETV1_ENST00000430479.1_Silent_p.D454D|ETV1_ENST00000399357.3_Silent_p.D351D|ETV1_ENST00000420159.2_Silent_p.D396D|ETV1_ENST00000242066.5_Silent_p.D436D|ETV1_ENST00000403527.1_Silent_p.D414D|ETV1_ENST00000405192.2_Silent_p.D431D|ETV1_ENST00000403685.1_Silent_p.D436D|ETV1_ENST00000405218.2_Silent_p.D454D	p.D436D			P50549	ETV1_HUMAN			13	2046	-			454					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.1308T>C	CCDS55088.1																																																																																				0.517	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		9	32	0	0	0	1	0	9	32				
ZNF202	7753	broad.mit.edu	37	11	123601255	123601255	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:123601255G>A	ENST00000529691.1	-	2	561	c.342C>T	c.(340-342)ggC>ggT	p.G114G	ZNF202_ENST00000530393.1_Silent_p.G114G|ZNF202_ENST00000336139.4_Silent_p.G114G			O95125	ZN202_HUMAN	zinc finger protein 202	114	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGCCTCCTCGCCACTTTCTG	0.587																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(340-342)ggC>ggT		zinc finger protein 202							102.0	97.0	99.0					11																	123601255		2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601255G>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.342C>T	11.37:g.123601255G>A						ZNF202_ENST00000530393.1_Silent_p.G114G|ZNF202_ENST00000529691.1_Silent_p.G114G	p.G114G			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	704	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	114			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.342C>T	CCDS8443.1																																																																																				0.587	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		30	145	0	0	0	1	0	30	145				
CDHR3	222256	broad.mit.edu	37	7	105664941	105664941	+	Missense_Mutation	SNP	G	G	A	rs372150083		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:105664941G>A	ENST00000317716.9	+	15	2271	c.2191G>A	c.(2191-2193)Gtc>Atc	p.V731I	CDHR3_ENST00000343407.5_Missense_Mutation_p.G233D|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.V643I|CDHR3_ENST00000542731.1_Missense_Mutation_p.V731I	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	731					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CGTGTACCTGGTCGTCCTATT	0.537																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(2191-2193)Gtc>Atc		cadherin-related family member 3							146.0	144.0	145.0					7																	105664941		2056	4208	6264	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105664941G>A	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2191G>A	7.37:g.105664941G>A	ENSP00000325954:p.Val731Ile					CDHR3_ENST00000478080.1_Missense_Mutation_p.V643I|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.V731I|CDHR3_ENST00000343407.5_Missense_Mutation_p.G233D	p.V731I			Q6ZTQ4	CDHR3_HUMAN			15	2299	+			731					Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.2191G>A	CCDS47684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.022|0.022	-1.407583|-1.407583	0.01155|0.01155	.|.	.|.	ENSG00000128536|ENSG00000128536	ENST00000343407;ENST00000466045|ENST00000542731;ENST00000317716;ENST00000478080	T;T|T;T;T	0.80033|0.55052	-1.33;-0.7|0.61;0.61;0.54	5.65|5.65	-8.26|-8.26	0.01021|0.01021	.|.	.|2.238190	.|0.01466	.|N	.|0.016084	T|T	0.13713|0.13713	0.0332|0.0332	N|N	0.00707|0.00707	-1.245|-1.245	0.09310|0.09310	N|N	1|1	B|B;B	0.06786|0.02656	0.001|0.0;0.0	B|B;B	0.06405|0.01281	0.002|0.0;0.0	T|T	0.35992|0.35992	-0.9766|-0.9766	9|10	0.14656|0.05436	T|T	0.56|0.98	-0.2941|-0.2941	3.4843|3.4843	0.07614|0.07614	0.2385:0.3589:0.3063:0.0963|0.2385:0.3589:0.3063:0.0963	.|.	231|718;731	Q6ZTQ4-2|B3KYA0;Q6ZTQ4	.|.;CDHR3_HUMAN	D|I	233;272|731;731;643	ENSP00000341510:G233D;ENSP00000419017:G272D|ENSP00000439766:V731I;ENSP00000325954:V731I;ENSP00000417771:V643I	ENSP00000341510:G233D|ENSP00000325954:V731I	G|V	+|+	2|1	0|0	CDHR3|CDHR3	105452177|105452177	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.163000|0.163000	0.22366|0.22366	-0.441000|-0.441000	0.06879|0.06879	-0.842000|-0.842000	0.04195|0.04195	-0.165000|-0.165000	0.13383|0.13383	GGT|GTC		0.537	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		4	49	0	0	0	1	0	4	49				
PCNXL3	399909	broad.mit.edu	37	11	65392959	65392959	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:65392959C>T	ENST00000355703.3	+	18	3652	c.3113C>T	c.(3112-3114)cCg>cTg	p.P1038L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1038						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACCCCTTGCCGGACAAGATG	0.687																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3112-3114)cCg>cTg		pecanex-like 3 (Drosophila)							20.0	24.0	22.0					11																	65392959		1823	4035	5858	SO:0001583	missense	399909					integral to membrane		g.chr11:65392959C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3113C>T	11.37:g.65392959C>T	ENSP00000347931:p.Pro1038Leu						p.P1038L	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			18	3652	+			1038					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.3113C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213558	0.95069	.	.	ENSG00000197136	ENST00000355703	T	0.15139	2.45	4.82	4.82	0.62117	.	.	.	.	.	T	0.45836	0.1362	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.49890	-0.8891	9	0.56958	D	0.05	.	13.2625	0.60113	0.0:1.0:0.0:0.0	.	1038	Q9H6A9	PCX3_HUMAN	L	1038	ENSP00000347931:P1038L	ENSP00000347931:P1038L	P	+	2	0	PCNXL3	65149535	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.030000	0.64128	2.522000	0.85027	0.655000	0.94253	CCG		0.687	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		12	78	0	0	0	1	0	12	78				
IMPA2	3613	broad.mit.edu	37	18	11999164	11999164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:11999164C>T	ENST00000269159.3	+	2	450	c.208C>T	c.(208-210)Cga>Tga	p.R70*	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	70					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTCTGAGTTGCGAGAGAGGTT	0.483																																						ENST00000269159.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12						c.(208-210)Cga>Tga		inositol(myo)-1(or 4)-monophosphatase 2	Lithium(DB01356)						118.0	123.0	121.0					18																	11999164		2203	4300	6503	SO:0001587	stop_gained	3613				inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr18:11999164C>T	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.208C>T	18.37:g.11999164C>T	ENSP00000269159:p.Arg70*					IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR	p.R70*	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN			2	450	+			70					B0YJ29|Q9UJT3	Nonsense_Mutation	SNP	ENST00000269159.3	37	c.208C>T	CCDS11855.1	.	.	.	.	.	.	.	.	.	.	C	37	6.354979	0.97498	.	.	ENSG00000141401	ENST00000269159;ENST00000383376	.	.	.	5.38	3.37	0.38596	.	0.142352	0.43747	D	0.000540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-4.6095	11.8415	0.52357	0.6279:0.3721:0.0:0.0	.	.	.	.	X	70	.	ENSP00000269159:R70X	R	+	1	2	IMPA2	11989164	1.000000	0.71417	0.960000	0.40013	0.756000	0.42949	3.004000	0.49513	1.227000	0.43598	-0.274000	0.10170	CGA		0.483	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			24	154	0	0	0	1	0	24	154				
NCAM2	4685	broad.mit.edu	37	21	22658660	22658660	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:22658660C>A	ENST00000400546.1	+	4	658	c.409C>A	c.(409-411)Cga>Aga	p.R137R	NCAM2_ENST00000535285.1_Silent_p.R162R|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	137	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTGGTTTGCCGAGTTAGCAG	0.398																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(409-411)Cga>Aga		neural cell adhesion molecule 2							120.0	114.0	116.0					21																	22658660		2019	4191	6210	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658660C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.409C>A	21.37:g.22658660C>A						NCAM2_ENST00000535285.1_Silent_p.R162R|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	p.R137R	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	658	+		Lung NSC(9;0.195)	137			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.409C>A	CCDS42910.1																																																																																				0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		28	59	1	0	3.65163e-15	1	4.2614e-15	28	59				
PCDHGA10	56106	broad.mit.edu	37	5	140793389	140793389	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140793389T>C	ENST00000398610.2	+	1	647	c.647T>C	c.(646-648)cTc>cCc	p.L216P	PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGGTCCTCACCGCCTCC	0.592																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(646-648)cTc>cCc									38.0	43.0	42.0					5																	140793389		2077	4207	6284	SO:0001583	missense	56106							g.chr5:140793389T>C		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.647T>C	5.37:g.140793389T>C	ENSP00000381611:p.Leu216Pro					PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.L216P	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	647	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.647T>C	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	t	21.0	4.085717	0.76642	.	.	ENSG00000253846	ENST00000398610	T	0.23552	1.9	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72407	0.3456	H	0.99851	4.845	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.86254	0.1651	9	0.87932	D	0	.	15.5896	0.76517	0.0:0.0:0.0:1.0	.	216;216	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	P	216	ENSP00000381611:L216P	ENSP00000381611:L216P	L	+	2	0	PCDHGA10	140773573	0.991000	0.36638	0.997000	0.53966	0.982000	0.71751	6.307000	0.72815	2.094000	0.63399	0.455000	0.32223	CTC		0.592	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		3	42	0	0	0	1	0	3	42				
NEK8	284086	broad.mit.edu	37	17	27067904	27067904	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:27067904G>A	ENST00000268766.6	+	12	1667	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	AC010761.6_ENST00000582536.1_RNA|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	545					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCAGCAAGTGGAGGAGGCCCT	0.612																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1633-1635)Gag>Aag		NIMA-related kinase 8							50.0	52.0	51.0					17																	27067904		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27067904G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1633G>A	17.37:g.27067904G>A	ENSP00000268766:p.Glu545Lys					AC010761.6_ENST00000584779.1_RNA	p.E545K	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			12	1667	+	Lung NSC(42;0.0158)		545					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1633G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147478	0.77888	.	.	ENSG00000160602	ENST00000268766	T	0.69926	-0.44	5.7	5.7	0.88788	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	L	0.57536	1.79	0.80722	D	1	P	0.49090	0.919	P	0.44447	0.45	T	0.70306	-0.4908	10	0.46703	T	0.11	.	18.8353	0.92159	0.0:0.0:1.0:0.0	.	545	Q86SG6	NEK8_HUMAN	K	545	ENSP00000268766:E545K	ENSP00000268766:E545K	E	+	1	0	NEK8	24092031	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.904000	0.87408	2.688000	0.91661	0.655000	0.94253	GAG		0.612	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			14	51	0	0	0	1	0	14	51				
ADAM19	8728	broad.mit.edu	37	5	156940468	156940468	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:156940468T>C	ENST00000517905.1	-	8	756	c.712A>G	c.(712-714)Ata>Gta	p.I238V	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.I240V|ADAM19_ENST00000257527.4_Missense_Mutation_p.I238V			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	238	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGATCTCTATGAGCTTGTGT	0.512																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(712-714)Ata>Gta		ADAM metallopeptidase domain 19							369.0	279.0	309.0					5																	156940468		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156940468T>C	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.712A>G	5.37:g.156940468T>C	ENSP00000428654:p.Ile238Val					ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.I240V|ADAM19_ENST00000517905.1_Missense_Mutation_p.I238V	p.I238V	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	790	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	238			Peptidase M12B.		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.712A>G		.	.	.	.	.	.	.	.	.	.	T	12.44	1.940114	0.34283	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.62498	0.02;0.02;0.02	4.91	2.37	0.29283	.	0.449576	0.24774	N	0.035718	T	0.35913	0.0948	N	0.16368	0.405	0.24084	N	0.995938	B	0.06786	0.001	B	0.04013	0.001	T	0.09975	-1.0650	10	0.26408	T	0.33	.	0.8193	0.01108	0.3178:0.1071:0.1643:0.4109	.	238	Q9H013-2	.	V	238;240;238	ENSP00000257527:I238V;ENSP00000377588:I240V;ENSP00000428654:I238V	ENSP00000257527:I238V	I	-	1	0	ADAM19	156873046	0.819000	0.29175	0.998000	0.56505	0.992000	0.81027	0.512000	0.22755	0.272000	0.22027	0.533000	0.62120	ATA		0.512	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		32	96	0	0	0	1	0	32	96				
FAM24A	118670	broad.mit.edu	37	10	124672315	124672315	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:124672315C>G	ENST00000368894.1	+	3	284	c.163C>G	c.(163-165)Cac>Gac	p.H55D		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	55						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TGTAAAAAATCACAACCCAGA	0.463																																						ENST00000368894.1																			0				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(163-165)Cac>Gac		family with sequence similarity 24, member A							134.0	116.0	122.0					10																	124672315		2203	4300	6503	SO:0001583	missense	118670					extracellular region		g.chr10:124672315C>G		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.163C>G	10.37:g.124672315C>G	ENSP00000357889:p.His55Asp						p.H55D	NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	3	284	+		all_neural(114;0.169)|Glioma(114;0.222)	55						Missense_Mutation	SNP	ENST00000368894.1	37	c.163C>G	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	C	6.020	0.372075	0.11409	.	.	ENSG00000203795	ENST00000368894	.	.	.	2.01	-4.01	0.04045	.	16.236900	0.00166	N	0.000000	T	0.18002	0.0432	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10917	-1.0609	9	0.07813	T	0.8	.	0.8253	0.01119	0.3344:0.3427:0.1483:0.1746	.	55	A6NFZ4	FA24A_HUMAN	D	55	.	ENSP00000357889:H55D	H	+	1	0	FAM24A	124662305	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.178000	0.16820	-1.083000	0.03097	-1.080000	0.02220	CAC		0.463	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		30	88	0	0	0	1	0	30	88				
ATPIF1	93974	broad.mit.edu	37	1	28564448	28564448	+	Missense_Mutation	SNP	C	C	T	rs374584642		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:28564448C>T	ENST00000335514.5	+	3	331	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ATPIF1_ENST00000497986.1_3'UTR|RP5-1092A3.4_ENST00000604716.1_RNA|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000468425.2_Intron	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	94	Antiparallel alpha-helical coiled coil region. {ECO:0000250}.				angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593)	cell surface (GO:0009986)|mitochondrion (GO:0005739)	angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803)			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAATTGAGCGCCATAAGCA	0.418																																						ENST00000335514.5																			0				lung(4)	4						c.(280-282)Cgc>Tgc		ATPase inhibitory factor 1		C	CYS/ARG,,	0,4406		0,0,2203	99.0	87.0	91.0		280,,	3.9	0.6	1		91	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,utr-3	ATPIF1	NM_016311.4,NM_178190.2,NM_178191.2	180,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,	94/107,,	28564448	1,13005	2203	4300	6503	SO:0001583	missense	93974				angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	g.chr1:28564448C>T	AL050386	CCDS319.1, CCDS320.1, CCDS44096.1	1p35.3	2011-07-04			ENSG00000130770	ENSG00000130770		"""Mitochondrial respiratory chain complex / Complex V"""	871	protein-coding gene	gene with protein product	"""ATPase inhibitor protein"", ""ATP synthase inhibitor protein"""	614981				10664857, 19559621	Standard	NM_016311		Approved	ATPI, IP, ATPIP, MGC1167, MGC8898	uc001bpq.3	Q9UII2	OTTHUMG00000003533	ENST00000335514.5:c.280C>T	1.37:g.28564448C>T	ENSP00000335203:p.Arg94Cys					ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000468425.2_Intron	p.R94C	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	331	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	94					Q5JXL8|Q6IAQ7|Q9BSL9	Missense_Mutation	SNP	ENST00000335514.5	37	c.280C>T	CCDS319.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940259	0.73557	0.0	1.16E-4	ENSG00000130770	ENST00000335514	D	0.93953	-3.32	5.83	3.92	0.45320	.	0.049755	0.85682	D	0.000000	D	0.96645	0.8905	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.96138	0.9098	10	0.87932	D	0	-2.835	10.1987	0.43071	0.1361:0.792:0.0:0.0719	.	94	Q9UII2	ATIF1_HUMAN	C	94	ENSP00000335203:R94C	ENSP00000335203:R94C	R	+	1	0	ATPIF1	28437035	1.000000	0.71417	0.560000	0.28344	0.674000	0.39518	7.111000	0.77077	0.774000	0.33427	0.561000	0.74099	CGC		0.418	ATPIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009841.1	NM_016311		4	120	0	0	0	1	0	4	120				
PRKCQ	5588	broad.mit.edu	37	10	6525468	6525468	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:6525468C>T	ENST00000263125.5	-	11	1212	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	PRKCQ_ENST00000539722.1_Silent_p.L246L|PRKCQ_ENST00000397176.2_Silent_p.L371L	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	371					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GTTTAATCTGCAGAGATGGTC	0.433																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1111-1113)ctG>ctA		protein kinase C, theta							143.0	135.0	138.0					10																	6525468		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6525468C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1113G>A	10.37:g.6525468C>T						PRKCQ_ENST00000539722.1_Silent_p.L246L|PRKCQ_ENST00000397176.2_Silent_p.L371L	p.L371L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			11	1212	-			371					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.1113G>A	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	3.376	-0.127343	0.06753	.	.	ENSG00000065675	ENST00000397178	.	.	.	5.24	-6.94	0.01633	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32375	-0.9909	4	.	.	.	.	4.3441	0.11124	0.0922:0.3256:0.3915:0.1906	.	.	.	.	Y	144	.	.	C	-	2	0	PRKCQ	6565474	0.717000	0.27966	0.013000	0.15412	0.011000	0.07611	0.020000	0.13466	-0.593000	0.05844	-0.929000	0.02709	TGC		0.433	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		40	140	0	0	0	1	0	40	140				
NLGN1	22871	broad.mit.edu	37	3	173996853	173996853	+	Silent	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:173996853A>T	ENST00000457714.1	+	6	1491	c.1062A>T	c.(1060-1062)atA>atT	p.I354I	NLGN1_ENST00000361589.4_Silent_p.I354I|NLGN1_ENST00000401917.3_Silent_p.I394I|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Silent_p.I354I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	371					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATACCACATAGCCTTTGGAC	0.413																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1060-1062)atA>atT		neuroligin 1							217.0	195.0	202.0					3																	173996853		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996853A>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1062A>T	3.37:g.173996853A>T						NLGN1_ENST00000545397.1_Silent_p.I354I|NLGN1_ENST00000401917.3_Silent_p.I394I|NLGN1_ENST00000361589.4_Silent_p.I354I|NLGN1_ENST00000466350.1_3'UTR	p.I354I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1491	+	Ovarian(172;0.0025)		371					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.1062A>T	CCDS3222.1																																																																																				0.413	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		86	196	0	0	0	1	0	86	196				
OR6C4	341418	broad.mit.edu	37	12	55945240	55945240	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:55945240C>A	ENST00000394256.2	+	1	258	c.230C>A	c.(229-231)cCc>cAc	p.P77H	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ATTTTTATTCCCAGATTTCTG	0.418																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(229-231)cCc>cAc		olfactory receptor, family 6, subfamily C, member 4							93.0	99.0	97.0					12																	55945240		2203	4300	6503	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945240C>A	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.230C>A	12.37:g.55945240C>A	ENSP00000377799:p.Pro77His					RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.P77H	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN			1	258	+			77					A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.230C>A	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298850	0.81025	.	.	ENSG00000179626	ENST00000394256	T	0.25749	1.78	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000196	T	0.66297	0.2775	H	0.97186	3.955	0.44117	D	0.996894	D	0.89917	1.0	D	0.79108	0.992	T	0.79320	-0.1852	10	0.87932	D	0	.	18.018	0.89247	0.0:1.0:0.0:0.0	.	77	Q8NGE1	OR6C4_HUMAN	H	77	ENSP00000377799:P77H	ENSP00000377799:P77H	P	+	2	0	OR6C4	54231507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.431000	0.66507	2.643000	0.89663	0.650000	0.86243	CCC		0.418	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			56	123	1	0	3.50607e-19	1	4.26338e-19	56	123				
PRDM8	56978	broad.mit.edu	37	4	81123492	81123492	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:81123492C>A	ENST00000504452.1	+	8	1715	c.876C>A	c.(874-876)ggC>ggA	p.G292G	PRDM8_ENST00000339711.4_Silent_p.G292G|PRDM8_ENST00000415738.2_Silent_p.G292G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	292	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggcggcCACC	0.716											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(874-876)ggC>ggA		PR domain containing 8							5.0	8.0	7.0					4																	81123492		1388	3326	4714	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123492C>A	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.876C>A	4.37:g.81123492C>A			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Silent_p.G292G|PRDM8_ENST00000415738.2_Silent_p.G292G	p.G292G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2107	+			292			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.876C>A	CCDS43243.1																																																																																				0.716	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			5	14	1	0	0.014758	1	0.0150299	5	14				
RRH	10692	broad.mit.edu	37	4	110763787	110763787	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:110763787G>A	ENST00000317735.4	+	6	917	c.883G>A	c.(883-885)Gtg>Atg	p.V295M		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	295					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CTGCATTTATGTGGTTGCTAA	0.373																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(883-885)Gtg>Atg		retinal pigment epithelium-derived rhodopsin homolog							90.0	91.0	90.0					4																	110763787		2203	4300	6503	SO:0001583	missense	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110763787G>A	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.883G>A	4.37:g.110763787G>A	ENSP00000314992:p.Val295Met						p.V295M	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	6	917	+		Hepatocellular(203;0.217)	295					A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	c.883G>A	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136068	0.77662	.	.	ENSG00000180245	ENST00000317735	T	0.37752	1.18	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	M	0.63843	1.955	0.80722	D	1	D	0.55385	0.971	P	0.46172	0.506	T	0.51196	-0.8736	10	0.87932	D	0	.	19.5013	0.95095	0.0:0.0:1.0:0.0	.	295	O14718	OPSX_HUMAN	M	295	ENSP00000314992:V295M	ENSP00000314992:V295M	V	+	1	0	RRH	110983236	1.000000	0.71417	0.967000	0.41034	0.952000	0.60782	7.535000	0.82014	2.609000	0.88269	0.555000	0.69702	GTG		0.373	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		18	117	0	0	0	1	0	18	117				
PCDHB18	54660	broad.mit.edu	37	5	140615580	140615580	+	RNA	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140615580A>T	ENST00000526308.1	+	0	1643					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACCAACGCCCAGGTCACCTAC	0.647																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140615580A>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615580A>T								NR_001281.1						0	1643	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.647	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			92	130	0	0	0	1	0	92	130				
ADCY1	107	broad.mit.edu	37	7	45750141	45750141	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:45750141C>T	ENST00000297323.7	+	19	2969	c.2947C>T	c.(2947-2949)Cct>Tct	p.P983S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	983					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAATGTTGGCCCTGTGGTGGC	0.582																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2947-2949)Cct>Tct		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						90.0	84.0	86.0					7																	45750141		2203	4300	6503	SO:0001583	missense	107				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 membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45750141C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2947C>T	7.37:g.45750141C>T	ENSP00000297323:p.Pro983Ser						p.P983S	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			19	2969	+			983					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2947C>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332906	0.81801	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.33438	1.41	4.97	4.97	0.65823	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53995	-0.8359	10	0.44086	T	0.13	.	16.1123	0.81271	0.0:1.0:0.0:0.0	.	983	Q08828	ADCY1_HUMAN	S	983	ENSP00000297323:P983S	ENSP00000297323:P983S	P	+	1	0	ADCY1	45716666	1.000000	0.71417	0.996000	0.52242	0.674000	0.39518	7.180000	0.77674	2.739000	0.93911	0.561000	0.74099	CCT		0.582	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		20	69	0	0	0	1	0	20	69				
RABAC1	10567	broad.mit.edu	37	19	42462927	42462927	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:42462927T>C	ENST00000222008.6	-	2	327	c.230A>G	c.(229-231)aAc>aGc	p.N77S	RABAC1_ENST00000601078.1_5'UTR|RABAC1_ENST00000601891.1_Missense_Mutation_p.N77S	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	77						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	identical protein binding (GO:0042802)			central_nervous_system(1)|kidney(1)|prostate(1)	3						GAACACATAGTTGCTCTGGTA	0.657																																						ENST00000222008.6																			0				central_nervous_system(1)|kidney(1)|prostate(1)	3						c.(229-231)aAc>aGc		Rab acceptor 1 (prenylated)							106.0	82.0	90.0					19																	42462927		2203	4300	6503	SO:0001583	missense	10567					cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding	g.chr19:42462927T>C	AJ133534	CCDS12593.1	19q13.2	2012-09-20			ENSG00000105404	ENSG00000105404			9794	protein-coding gene	gene with protein product	"""PRA1 domain family 1"", ""prenylated Rab acceptor 1"""	604925				10329441, 10751420	Standard	NM_006423		Approved	PRA1, PRAF1, YIP3	uc002osf.3	Q9UI14		ENST00000222008.6:c.230A>G	19.37:g.42462927T>C	ENSP00000222008:p.Asn77Ser					RABAC1_ENST00000601078.1_5'UTR|RABAC1_ENST00000601891.1_Missense_Mutation_p.N77S	p.N77S	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN			2	327	-			77					Q7Z4Y2|Q9Y3R1	Missense_Mutation	SNP	ENST00000222008.6	37	c.230A>G	CCDS12593.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.944046	0.92593	.	.	ENSG00000105404	ENST00000222008	D	0.86562	-2.14	4.1	4.1	0.47936	.	0.052679	0.64402	D	0.000001	D	0.93815	0.8022	M	0.89785	3.06	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94497	0.7706	10	0.87932	D	0	-7.9057	11.3587	0.49630	0.0:0.0:0.0:1.0	.	77	Q9UI14	PRAF1_HUMAN	S	77	ENSP00000222008:N77S	ENSP00000222008:N77S	N	-	2	0	RABAC1	47154767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.391000	0.66266	1.861000	0.53984	0.459000	0.35465	AAC		0.657	RABAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463388.1	NM_006423		12	10	0	0	0	1	0	12	10				
PRTG	283659	broad.mit.edu	37	15	55970166	55970166	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:55970166T>C	ENST00000389286.4	-	8	1257	c.1210A>G	c.(1210-1212)Att>Gtt	p.I404V	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTAGATAAAATAGATCCTTGG	0.373																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1210-1212)Att>Gtt		protogenin							62.0	57.0	59.0					15																	55970166		1845	4088	5933	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55970166T>C	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1210A>G	15.37:g.55970166T>C	ENSP00000373937:p.Ile404Val						p.I404V	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	8	1257	-			404			Ig-like 4.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1210A>G	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	T	0.417	-0.910317	0.02434	.	.	ENSG00000166450	ENST00000389286	T	0.64085	-0.08	4.85	1.29	0.21616	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182576	0.41938	N	0.000797	T	0.40347	0.1113	N	0.12502	0.225	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09773	-1.0659	10	0.35671	T	0.21	-8.5728	10.9998	0.47598	0.0:0.6598:0.0:0.3402	.	404	Q2VWP7	PRTG_HUMAN	V	404	ENSP00000373937:I404V	ENSP00000373937:I404V	I	-	1	0	PRTG	53757458	0.029000	0.19370	0.976000	0.42696	0.996000	0.88848	0.338000	0.19858	0.028000	0.15324	0.454000	0.30748	ATT		0.373	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		28	66	0	0	0	1	0	28	66				
DMD	1756	broad.mit.edu	37	X	32305701	32305701	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:32305701A>T	ENST00000357033.4	-	43	6441	c.6235T>A	c.(6235-6237)Tcc>Acc	p.S2079T	DMD_ENST00000378677.2_Missense_Mutation_p.S2075T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2079					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAGCTGGGAGAGAGCTTCC	0.413																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6235-6237)Tcc>Acc		dystrophin							175.0	147.0	156.0					X																	32305701		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32305701A>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6235T>A	X.37:g.32305701A>T	ENSP00000354923:p.Ser2079Thr					DMD_ENST00000378677.2_Missense_Mutation_p.S2075T	p.S2079T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			43	6441	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2079					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6235T>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.285970	0.00251	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35048	1.33;1.33	4.36	-8.71	0.00848	.	1.005240	0.08031	U	0.993503	T	0.07234	0.0183	N	0.00771	-1.2	0.24619	N	0.993681	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.002;0.001;0.003;0.002	T	0.23440	-1.0188	10	0.08599	T	0.76	.	4.2019	0.10471	0.2967:0.4553:0.0826:0.1654	.	2071;2079;2075;738;735	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	T	2071;738;735;2075;2079;2079;1956	ENSP00000367948:S2075T;ENSP00000354923:S2079T	ENSP00000354923:S2079T	S	-	1	0	DMD	32215622	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.185000	0.09684	-1.553000	0.01702	-1.232000	0.01568	TCC		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		23	51	0	0	0	1	0	23	51				
NEBL	10529	broad.mit.edu	37	10	21141477	21141477	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:21141477A>T	ENST00000377122.4	-	10	1401	c.1005T>A	c.(1003-1005)agT>agA	p.S335R	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	335					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGTACCTGACTTTGGAGGA	0.498																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1003-1005)agT>agA		nebulette							144.0	102.0	116.0					10																	21141477		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21141477A>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1005T>A	10.37:g.21141477A>T	ENSP00000366326:p.Ser335Arg					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.S335R	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			10	1401	-			335					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1005T>A	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676799	0.67928	.	.	ENSG00000078114	ENST00000377122	D	0.82526	-1.62	5.98	-5.65	0.02459	.	0.000000	0.85682	D	0.000000	D	0.91486	0.7312	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91356	0.5108	10	0.87932	D	0	.	19.1971	0.93693	0.2592:0.0:0.7408:0.0	.	335	O76041	NEBL_HUMAN	R	335	ENSP00000366326:S335R	ENSP00000366326:S335R	S	-	3	2	NEBL	21181483	0.982000	0.34865	0.918000	0.36340	0.506000	0.33950	0.136000	0.15974	-1.058000	0.03197	-0.263000	0.10527	AGT		0.498	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		87	64	0	0	0	1	0	87	64				
BAG5	9529	broad.mit.edu	37	14	104027165	104027165	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:104027165A>G	ENST00000445922.2	-	2	583	c.337T>C	c.(337-339)Tat>Cat	p.Y113H	RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000556253.2_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|BAG5_ENST00000299204.4_Missense_Mutation_p.Y113H|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.Y154H|APOPT1_ENST00000409074.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	113	BAG 2. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CCTCCATTATAAAATGGCACA	0.433																																					NSCLC(171;1832 2055 18950 31566 41632)	ENST00000445922.2																			0				endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24						c.(337-339)Tat>Cat		BCL2-associated athanogene 5							126.0	126.0	126.0					14																	104027165		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104027165A>G	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.337T>C	14.37:g.104027165A>G	ENSP00000391713:p.Tyr113His					RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.Y113H|BAG5_ENST00000337322.4_Missense_Mutation_p.Y154H	p.Y113H	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	583	-		Melanoma(154;0.155)	113			BAG 2.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.337T>C	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	A	6.155	0.396880	0.11638	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322;ENST00000557666	T;T;T;T	0.80393	-1.36;-1.36;-1.37;-1.35	5.76	3.43	0.39272	.	0.374772	0.27826	N	0.017686	T	0.59473	0.2196	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.45512	-0.9256	10	0.24483	T	0.36	-19.0489	8.6008	0.33742	0.851:0.0:0.149:0.0	.	113;154	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	H	113;113;154;113	ENSP00000299204:Y113H;ENSP00000391713:Y113H;ENSP00000338814:Y154H;ENSP00000450497:Y113H	ENSP00000299204:Y113H	Y	-	1	0	BAG5	103096918	0.790000	0.28787	0.010000	0.14722	0.907000	0.53573	1.736000	0.38187	1.008000	0.39264	-0.290000	0.09829	TAT		0.433	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			5	166	0	0	0	1	0	5	166				
TNIK	23043	broad.mit.edu	37	3	170846571	170846571	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:170846571C>G	ENST00000436636.2	-	16	2049	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	TNIK_ENST00000284483.8_Missense_Mutation_p.E569Q|TNIK_ENST00000357327.5_Missense_Mutation_p.E540Q|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000470834.1_Missense_Mutation_p.E540Q|TNIK_ENST00000369326.5_Missense_Mutation_p.E540Q|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000488470.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	569	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGAAGGACTCCGACCTTGGG	0.567																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1705-1707)Gag>Cag		TRAF2 and NCK interacting kinase							57.0	61.0	60.0					3																	170846571		1978	4163	6141	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170846571C>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1705G>C	3.37:g.170846571C>G	ENSP00000399511:p.Glu569Gln					TNIK_ENST00000284483.8_Missense_Mutation_p.E569Q|TNIK_ENST00000369326.5_Missense_Mutation_p.E540Q|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Missense_Mutation_p.E540Q|TNIK_ENST00000357327.5_Missense_Mutation_p.E540Q|TNIK_ENST00000460047.1_Intron	p.E569Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		16	2049	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		569			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1705G>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120301	0.77323	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000284483;ENST00000357327;ENST00000470834	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.11	5.11	0.69529	.	0.116276	0.64402	D	0.000018	T	0.68943	0.3056	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.71674	0.995;0.998;0.995;0.997	P;D;P;D	0.66979	0.879;0.948;0.879;0.942	T	0.63287	-0.6671	10	0.25751	T	0.34	.	18.7271	0.91718	0.0:1.0:0.0:0.0	.	540;569;540;569	Q9UKE5-6;Q9UKE5-4;Q9UKE5-2;Q9UKE5	.;.;.;TNIK_HUMAN	Q	569;540;569;540;540	ENSP00000399511:E569Q;ENSP00000358332:E540Q;ENSP00000284483:E569Q;ENSP00000349880:E540Q;ENSP00000419990:E540Q	ENSP00000284483:E569Q	E	-	1	0	TNIK	172329265	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	7.320000	0.79064	2.652000	0.90054	0.561000	0.74099	GAG		0.567	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		11	31	0	0	0	1	0	11	31				
PDE4B	5142	broad.mit.edu	37	1	66834519	66834519	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:66834519C>T	ENST00000329654.4	+	16	1899	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	PDE4B_ENST00000480109.2_Missense_Mutation_p.S338F|PDE4B_ENST00000371045.5_Missense_Mutation_p.S399F|PDE4B_ENST00000423207.2_Missense_Mutation_p.S556F|PDE4B_ENST00000371049.3_Missense_Mutation_p.S571F	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	571					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CCCACCAAGTCCTTGGAATTG	0.463																																						ENST00000423207.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(1666-1668)tCc>tTc		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						112.0	104.0	107.0					1																	66834519		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66834519C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1712C>T	1.37:g.66834519C>T	ENSP00000332116:p.Ser571Phe					PDE4B_ENST00000371049.3_Missense_Mutation_p.S571F|PDE4B_ENST00000329654.4_Missense_Mutation_p.S571F|PDE4B_ENST00000480109.2_Missense_Mutation_p.S338F|PDE4B_ENST00000371045.5_Missense_Mutation_p.S399F	p.S556F	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN			14	2152	+			571					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.1667C>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219172	0.79464	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	4.44	4.44	0.53790	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.115069	0.64402	D	0.000009	T	0.77718	0.4172	L	0.56396	1.775	0.80722	D	1	P;D;D;D;D	0.58970	0.951;0.98;0.984;0.984;0.984	P;P;D;D;D	0.67103	0.837;0.877;0.949;0.925;0.925	T	0.80509	-0.1351	10	0.87932	D	0	.	17.1997	0.86902	0.0:1.0:0.0:0.0	.	338;556;441;561;571	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	F	571;571;571;556;399;338	ENSP00000332116:S571F;ENSP00000342637:S571F;ENSP00000360088:S571F;ENSP00000392947:S556F;ENSP00000360084:S399F;ENSP00000432592:S338F	ENSP00000332116:S571F	S	+	2	0	PDE4B	66607107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.562000	0.82300	2.451000	0.82905	0.563000	0.77884	TCC		0.463	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		24	100	0	0	0	1	0	24	100				
ORAI1	84876	broad.mit.edu	37	12	122079045	122079045	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:122079045C>T	ENST00000330079.7	+	2	601	c.408C>T	c.(406-408)caC>caT	p.H136H		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	134					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TGGCTGTGCACCTGTTTGCGC	0.612																																						ENST00000330079.7																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11						c.(406-408)caC>caT		ORAI calcium release-activated calcium modulator 1							56.0	58.0	57.0					12																	122079045		2203	4300	6503	SO:0001819	synonymous_variant	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079045C>T	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.408C>T	12.37:g.122079045C>T							p.H136H	NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	2	601	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		134					Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Silent	SNP	ENST00000330079.7	37	c.408C>T	CCDS41851.1																																																																																				0.612	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		9	40	0	0	0	1	0	9	40				
RTKN2	219790	broad.mit.edu	37	10	63983025	63983025	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:63983025C>G	ENST00000373789.3	-	7	849	c.753G>C	c.(751-753)aaG>aaC	p.K251N	RTKN2_ENST00000315289.2_Missense_Mutation_p.K32N|RTKN2_ENST00000395265.1_Missense_Mutation_p.K251N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	251					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GATTATGGGTCTTGAAACTAT	0.303																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(751-753)aaG>aaC		rhotekin 2							124.0	121.0	122.0					10																	63983025		2203	4297	6500	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63983025C>G	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.753G>C	10.37:g.63983025C>G	ENSP00000362894:p.Lys251Asn					RTKN2_ENST00000395265.1_Missense_Mutation_p.K251N|RTKN2_ENST00000315289.2_Missense_Mutation_p.K32N	p.K251N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			7	849	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		251					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.753G>C	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514995	0.85389	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.47869	0.83;1.36;1.37	5.95	5.95	0.96441	.	0.103133	0.64402	D	0.000002	T	0.53738	0.1815	L	0.43152	1.355	0.47094	D	0.999316	P;D	0.53619	0.917;0.961	P;P	0.49637	0.529;0.617	T	0.53315	-0.8456	10	0.62326	D	0.03	-11.7658	19.9698	0.97280	0.0:1.0:0.0:0.0	.	32;251	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	N	32;251;251	ENSP00000325379:K32N;ENSP00000378682:K251N;ENSP00000362894:K251N	ENSP00000325379:K32N	K	-	3	2	RTKN2	63653031	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.526000	0.53509	2.817000	0.96982	0.563000	0.77884	AAG		0.303	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		39	167	0	0	0	1	0	39	167				
DLGAP4	22839	broad.mit.edu	37	20	35060212	35060212	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:35060212C>T	ENST00000373907.2	+	2	291	c.92C>T	c.(91-93)cCc>cTc	p.P31L	DLGAP4_ENST00000401952.2_Missense_Mutation_p.P31L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P31L|DLGAP4_ENST00000373913.3_Missense_Mutation_p.P31L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	31					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GACCGCAACCCCTACCTGCTG	0.687																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(91-93)cCc>cTc		discs, large (Drosophila) homolog-associated protein 4							33.0	35.0	34.0					20																	35060212		2203	4298	6501	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060212C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.92C>T	20.37:g.35060212C>T	ENSP00000363014:p.Pro31Leu					DLGAP4_ENST00000401952.2_Missense_Mutation_p.P31L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P31L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P31L	p.P31L			Q9Y2H0	DLGP4_HUMAN			3	572	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	31					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.92C>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.037382	0.75617	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.67	5.67	0.87782	.	0.050946	0.85682	D	0.000000	T	0.65302	0.2678	M	0.79011	2.435	0.80722	D	1	D	0.63046	0.992	P	0.54270	0.747	T	0.69760	-0.5058	10	0.87932	D	0	.	18.7705	0.91890	0.0:1.0:0.0:0.0	.	31	Q9Y2H0-1	.	L	31	ENSP00000363023:P31L;ENSP00000384954:P31L;ENSP00000363014:P31L;ENSP00000341633:P31L	ENSP00000341633:P31L	P	+	2	0	DLGAP4	34493626	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.037000	0.70956	2.677000	0.91161	0.561000	0.74099	CCC		0.687	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		15	62	0	0	0	1	0	15	62				
NBAS	51594	broad.mit.edu	37	2	15694237	15694237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:15694237C>A	ENST00000281513.5	-	4	260	c.235G>T	c.(235-237)Gga>Tga	p.G79*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.G79*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	79					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CGAACCAGTCCATCAGGGAGC	0.368																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(235-237)Gga>Tga		neuroblastoma amplified sequence							100.0	99.0	99.0					2																	15694237		2203	4300	6503	SO:0001587	stop_gained	51594							g.chr2:15694237C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.235G>T	2.37:g.15694237C>A	ENSP00000281513:p.Gly79*					NBAS_ENST00000441750.1_Nonsense_Mutation_p.G79*	p.G79*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			4	260	-			79					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	ENST00000281513.5	37	c.235G>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	37	6.052592	0.97241	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	.	.	.	5.33	5.33	0.75918	.	0.057690	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9282	0.79635	0.0:1.0:0.0:0.0	.	.	.	.	X	79	.	ENSP00000281513:G79X	G	-	1	0	NBAS	15611688	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.588000	0.67517	2.493000	0.84123	0.305000	0.20034	GGA		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		12	37	1	0	0.00136819	1	0.00140755	12	37				
TMEM88	92162	broad.mit.edu	37	17	7758805	7758805	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:7758805G>A	ENST00000301599.6	+	2	263	c.253G>A	c.(253-255)Gac>Aac	p.D85N	TMEM88_ENST00000574668.1_Intron|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000571846.1_5'Flank	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	85					multicellular organismal development (GO:0007275)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				GCACCTGCGGGACCCCGGTTT	0.692																																						ENST00000301599.6																			0				lung(1)	1						c.(253-255)Gac>Aac		transmembrane protein 88							39.0	39.0	39.0					17																	7758805		2203	4298	6501	SO:0001583	missense	92162					integral to membrane		g.chr17:7758805G>A	BC057812	CCDS11121.1	17p13.1	2005-12-13				ENSG00000167874			32371	protein-coding gene	gene with protein product							Standard	NM_203411		Approved	MGC71744, FLJ20025	uc002giy.3	Q6PEY1		ENST00000301599.6:c.253G>A	17.37:g.7758805G>A	ENSP00000301599:p.Asp85Asn					TMEM88_ENST00000574668.1_Intron	p.D85N	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN			2	263	+		all_cancers(10;0.00528)|Prostate(122;0.202)	85						Missense_Mutation	SNP	ENST00000301599.6	37	c.253G>A	CCDS11121.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887182	0.72410	.	.	ENSG00000167874	ENST00000301599	T	0.72282	-0.64	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.82766	-0.0295	10	0.87932	D	0	-10.5901	12.8186	0.57679	0.0:0.165:0.835:0.0	.	85	Q6PEY1	TMM88_HUMAN	N	85	ENSP00000301599:D85N	ENSP00000301599:D85N	D	+	1	0	TMEM88	7699530	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	6.819000	0.75262	2.522000	0.85027	0.462000	0.41574	GAC		0.692	TMEM88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440252.1	NM_203411		17	41	0	0	0	1	0	17	41				
TPCN1	53373	broad.mit.edu	37	12	113707570	113707570	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:113707570G>A	ENST00000335509.6	+	7	982	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	TPCN1_ENST00000541517.1_Missense_Mutation_p.R295Q|TPCN1_ENST00000550785.1_Missense_Mutation_p.R295Q|TPCN1_ENST00000392569.4_Missense_Mutation_p.R155Q	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	223					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGCAACCTGCGGCAGATCTTC	0.612																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(883-885)cGg>cAg		two pore segment channel 1							117.0	97.0	104.0					12																	113707570		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113707570G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.668G>A	12.37:g.113707570G>A	ENSP00000335300:p.Arg223Gln					TPCN1_ENST00000335509.6_Missense_Mutation_p.R223Q|TPCN1_ENST00000541517.1_Missense_Mutation_p.R295Q|TPCN1_ENST00000392569.4_Missense_Mutation_p.R155Q	p.R295Q	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			8	1053	+			223					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.884G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581736	0.96565	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	5.26	5.26	0.73747	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	M	0.76002	2.32	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.989	D	0.99293	1.0899	10	0.49607	T	0.09	-28.9185	19.028	0.92941	0.0:0.0:1.0:0.0	.	223;295;223	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	Q	223;295;295;155	ENSP00000335300:R223Q;ENSP00000448083:R295Q;ENSP00000438125:R295Q;ENSP00000376350:R155Q	ENSP00000335300:R223Q	R	+	2	0	TPCN1	112191953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.186000	0.94906	2.729000	0.93468	0.655000	0.94253	CGG		0.612	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		17	107	0	0	0	1	0	17	107				
F8	2157	broad.mit.edu	37	X	154194841	154194841	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:154194841G>A	ENST00000360256.4	-	8	1331	c.1131C>T	c.(1129-1131)gtC>gtT	p.V377V	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	377					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATCAAACCTGACCACATCCA	0.418																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1129-1131)gtC>gtT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						210.0	160.0	177.0					X																	154194841		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154194841G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1131C>T	X.37:g.154194841G>A							p.V377V	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			8	1331	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		377					Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.1131C>T	CCDS35457.1																																																																																				0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			32	72	0	0	0	1	0	32	72				
GXYLT2	727936	broad.mit.edu	37	3	73004459	73004459	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:73004459A>T	ENST00000389617.4	+	4	972	c.811A>T	c.(811-813)Atg>Ttg	p.M271L		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	271					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TTCAGGAGTCATGTTAATGAA	0.453																																						ENST00000389617.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(811-813)Atg>Ttg		glucoside xylosyltransferase 2							56.0	54.0	54.0					3																	73004459		1852	4113	5965	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73004459A>T	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.811A>T	3.37:g.73004459A>T	ENSP00000374268:p.Met271Leu						p.M271L	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			4	972	+			271						Missense_Mutation	SNP	ENST00000389617.4	37	c.811A>T	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118179	0.77323	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.37411	1.2;1.2	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	M	0.82132	2.575	0.80722	D	1	P	0.44946	0.846	P	0.54706	0.759	T	0.54397	-0.8300	10	0.27785	T	0.31	.	15.4629	0.75373	1.0:0.0:0.0:0.0	.	271	A0PJZ3	GXLT2_HUMAN	L	271;32	ENSP00000374268:M271L;ENSP00000420426:M32L	ENSP00000374268:M271L	M	+	1	0	GXYLT2	73087149	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	8.925000	0.92832	2.241000	0.73720	0.533000	0.62120	ATG		0.453	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		8	46	0	0	0	1	0	8	46				
COBL	23242	broad.mit.edu	37	7	51096987	51096987	+	Silent	SNP	G	G	T	rs149617160		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:51096987G>T	ENST00000265136.7	-	10	1971	c.1806C>A	c.(1804-1806)ccC>ccA	p.P602P	COBL_ENST00000395542.2_Silent_p.P684P	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	602					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATGGGAAGCGGGGTGCAGGG	0.557																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2050-2052)ccC>ccA		cordon-bleu WH2 repeat protein							81.0	72.0	75.0					7																	51096987		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51096987G>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1806C>A	7.37:g.51096987G>T						COBL_ENST00000265136.7_Silent_p.P602P	p.P684P			O75128	COBL_HUMAN			12	2236	-	Glioma(55;0.08)		602					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.2052C>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	3.472	-0.107779	0.06924	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.82	-0.905	0.10527	.	.	.	.	.	T	0.21550	0.0519	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25916	-1.0118	4	.	.	.	.	3.2764	0.06899	0.4086:0.1131:0.3683:0.11	.	.	.	.	S	578	.	.	R	-	1	0	COBL	51064481	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.243000	0.08915	-0.381000	0.07882	-0.781000	0.03364	CGC		0.557	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		26	68	1	0	7.92952e-12	1	8.96124e-12	26	68				
C7orf62	219557	broad.mit.edu	37	7	88423892	88423892	+	Missense_Mutation	SNP	G	G	T	rs200976271		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:88423892G>T	ENST00000297203.2	-	2	550	c.365C>A	c.(364-366)aCa>aAa	p.T122K	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	122										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAAAAATACTGTTTCATCTTT	0.353																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(364-366)aCa>aAa		chromosome 7 open reading frame 62							50.0	52.0	51.0					7																	88423892		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423892G>T	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.365C>A	7.37:g.88423892G>T	ENSP00000297203:p.Thr122Lys					ZNF804B_ENST00000333190.4_Intron	p.T122K	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	550	-			122						Missense_Mutation	SNP	ENST00000297203.2	37	c.365C>A	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.849787	0.00563	.	.	ENSG00000164645	ENST00000297203	T	0.13307	2.6	5.95	-11.9	0.00025	.	1.310100	0.04639	N	0.405089	T	0.06781	0.0173	L	0.44542	1.39	0.09310	N	1	B	0.21606	0.058	B	0.22601	0.04	T	0.32455	-0.9906	10	0.05959	T	0.93	-10.6799	3.1349	0.06436	0.1747:0.4161:0.1424:0.2668	.	122	Q8TBZ9	CG062_HUMAN	K	122	ENSP00000297203:T122K	ENSP00000297203:T122K	T	-	2	0	C7orf62	88261828	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.645000	0.00861	-2.389000	0.00587	-1.069000	0.02264	ACA		0.353	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		13	53	1	0	3.99206e-14	1	4.60564e-14	13	53				
DNAH7	56171	broad.mit.edu	37	2	196636512	196636512	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:196636512C>T	ENST00000312428.6	-	61	11405	c.11305G>A	c.(11305-11307)Gcc>Acc	p.A3769T	DNAH7_ENST00000409063.1_Missense_Mutation_p.A252T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3769					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCCTCATGGCAGCCTCGATG	0.453																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(11305-11307)Gcc>Acc		dynein, axonemal, heavy chain 7							276.0	258.0	264.0					2																	196636512		2025	4165	6190	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196636512C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11305G>A	2.37:g.196636512C>T	ENSP00000311273:p.Ala3769Thr					DNAH7_ENST00000409063.1_Missense_Mutation_p.A252T	p.A3769T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			61	11405	-			3769					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.11305G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805380	0.70682	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.08282	3.11;3.11	5.08	5.08	0.68730	Dynein heavy chain (1);	0.063541	0.64402	D	0.000009	T	0.16642	0.0400	L	0.58354	1.805	0.80722	D	1	P	0.35944	0.529	P	0.44696	0.458	T	0.02781	-1.1111	10	0.25106	T	0.35	.	18.2425	0.89971	0.0:1.0:0.0:0.0	.	3769	Q8WXX0	DYH7_HUMAN	T	3769;252	ENSP00000311273:A3769T;ENSP00000386912:A252T	ENSP00000311273:A3769T	A	-	1	0	DNAH7	196344757	0.993000	0.37304	0.998000	0.56505	0.676000	0.39594	3.076000	0.50081	2.630000	0.89119	0.655000	0.94253	GCC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		57	229	0	0	0	1	0	57	229				
AKAP8L	26993	broad.mit.edu	37	19	15511143	15511143	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:15511143C>A	ENST00000397410.5	-	8	1141	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	AKAP8L_ENST00000595465.2_Missense_Mutation_p.E276D|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	337						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTCTCCCATCCTCTTTTCCCT	0.463																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1009-1011)gaG>gaT		A kinase (PRKA) anchor protein 8-like							112.0	123.0	119.0					19																	15511143		1917	4132	6049	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15511143C>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1011G>T	19.37:g.15511143C>A	ENSP00000380557:p.Glu337Asp					AC006128.2_ENST00000599183.1_RNA|AKAP8L_ENST00000595465.1_Missense_Mutation_p.E276D	p.E337D	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			8	1075	-			337					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1011G>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127193	0.20959	.	.	ENSG00000011243	ENST00000397410	T	0.45668	0.89	4.57	-3.5	0.04710	.	0.540235	0.18838	N	0.129773	T	0.15176	0.0366	N	0.03608	-0.345	0.26720	N	0.970798	P;P;D	0.57571	0.841;0.512;0.98	B;B;B	0.42462	0.373;0.152;0.388	T	0.46789	-0.9166	10	0.15499	T	0.54	-22.8585	9.69	0.40123	0.0:0.2826:0.0:0.7174	.	276;337;337	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	D	337	ENSP00000380557:E337D	ENSP00000380557:E337D	E	-	3	2	AKAP8L	15372143	0.876000	0.30132	0.763000	0.31416	0.953000	0.61014	-0.427000	0.06999	-0.394000	0.07727	0.561000	0.74099	GAG		0.463	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		15	77	1	0	1.99824e-07	1	2.16179e-07	15	77				
IL17RA	23765	broad.mit.edu	37	22	17579699	17579699	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:17579699T>A	ENST00000319363.6	+	4	478	c.345T>A	c.(343-345)tcT>tcA	p.S115S	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	115					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGAGTTATCTGTCCTGCAGC	0.522																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(343-345)tcT>tcA		interleukin 17 receptor A							170.0	129.0	143.0					22																	17579699		2203	4300	6503	SO:0001819	synonymous_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17579699T>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.345T>A	22.37:g.17579699T>A						IL17RA_ENST00000477874.1_3'UTR	p.S115S	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	4	478	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	115					O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	c.345T>A	CCDS13739.1																																																																																				0.522	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		14	67	0	0	0	1	0	14	67				
ABCC4	10257	broad.mit.edu	37	13	95887076	95887076	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:95887076C>T	ENST00000376887.4	-	4	433	c.319G>A	c.(319-321)Gta>Ata	p.V107I	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000412704.1_Missense_Mutation_p.V107I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V107I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	107	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGCTGGATTACTTTGGCACTT	0.338																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(319-321)Gta>Ata		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						10.0	11.0	11.0					13																	95887076		2178	4281	6459	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95887076C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.319G>A	13.37:g.95887076C>T	ENSP00000366084:p.Val107Ile					ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000431522.1_Missense_Mutation_p.V107I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V107I	p.V107I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			4	433	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		107			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.319G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	6.923	0.539907	0.13250	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000431522	D;D;D	0.89343	-2.5;-2.5;-2.5	5.42	4.58	0.56647	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.174567	0.49305	N	0.000141	T	0.80380	0.4612	N	0.17564	0.495	0.50813	D	0.999891	B;B;B;B	0.17667	0.018;0.01;0.023;0.013	B;B;B;B	0.24269	0.052;0.015;0.052;0.052	T	0.74343	-0.3696	10	0.36615	T	0.2	.	10.9861	0.47523	0.0:0.8393:0.0:0.1607	.	107;107;107;107	A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	107	ENSP00000388657:V107I;ENSP00000366084:V107I;ENSP00000398562:V107I	ENSP00000366084:V107I	V	-	1	0	ABCC4	94685077	0.997000	0.39634	0.796000	0.32109	0.098000	0.18820	0.761000	0.26489	1.299000	0.44798	0.655000	0.94253	GTA		0.338	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		3	10	0	0	0	1	0	3	10				
DCK	1633	broad.mit.edu	37	4	71863852	71863852	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:71863852C>T	ENST00000286648.5	+	2	557	c.160C>T	c.(160-162)Cct>Tct	p.P54S	DCK_ENST00000504952.1_Missense_Mutation_p.P54S|MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504730.1_Missense_Mutation_p.P54S	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	54					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	GGTTCCTGAACCTGTTGCCAG	0.368																																						ENST00000286648.5																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(160-162)Cct>Tct		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						111.0	106.0	107.0					4																	71863852		2203	4300	6503	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71863852C>T	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.160C>T	4.37:g.71863852C>T	ENSP00000286648:p.Pro54Ser					DCK_ENST00000504952.1_Missense_Mutation_p.P54S|DCK_ENST00000504730.1_Missense_Mutation_p.P54S|MOB1B_ENST00000511449.1_3'UTR	p.P54S	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	Lung(101;0.235)		2	557	+			54					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.160C>T	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853673	0.91355	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.97575	-4.44;-4.44;-4.44	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98979	1.0804	10	0.87932	D	0	.	19.8124	0.96553	0.0:1.0:0.0:0.0	.	54	P27707	DCK_HUMAN	S	54	ENSP00000286648:P54S;ENSP00000425578:P54S;ENSP00000421508:P54S	ENSP00000286648:P54S	P	+	1	0	DCK	72082716	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.431000	0.73395	2.850000	0.98022	0.655000	0.94253	CCT		0.368	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			19	104	0	0	0	1	0	19	104				
EPS8	2059	broad.mit.edu	37	12	15823836	15823836	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:15823836C>A	ENST00000281172.5	-	4	594	c.158G>T	c.(157-159)cGg>cTg	p.R53L	EPS8_ENST00000543612.1_Missense_Mutation_p.R53L|EPS8_ENST00000543523.1_Missense_Mutation_p.R53L|RNU6-251P_ENST00000363235.1_RNA	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	53					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GACACTGTCCCGTGCATAATT	0.383																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(157-159)cGg>cTg		epidermal growth factor receptor pathway substrate 8							158.0	142.0	147.0					12																	15823836		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15823836C>A	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.158G>T	12.37:g.15823836C>A	ENSP00000281172:p.Arg53Leu					EPS8_ENST00000543523.1_Missense_Mutation_p.R53L|EPS8_ENST00000543612.1_Missense_Mutation_p.R53L	p.R53L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	4	594	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	53					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.158G>T	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383446	0.61845	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752;ENST00000543363;ENST00000536793;ENST00000544064	T;T;T;T;T	0.47528	3.31;3.31;3.31;0.84;0.84	5.04	5.04	0.67666	.	0.123192	0.53938	D	0.000053	T	0.47544	0.1451	L	0.56769	1.78	0.80722	D	1	P	0.47106	0.89	B	0.39660	0.306	T	0.53165	-0.8477	10	0.48119	T	0.1	-16.1423	18.9408	0.92604	0.0:1.0:0.0:0.0	.	53	Q12929	EPS8_HUMAN	L	53	ENSP00000441867:R53L;ENSP00000281172:R53L;ENSP00000442388:R53L;ENSP00000445235:R53L;ENSP00000440591:R53L	ENSP00000281172:R53L	R	-	2	0	EPS8	15715103	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.531000	0.45650	2.785000	0.95823	0.655000	0.94253	CGG		0.383	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			6	96	1	0	0.0381472	1	0.0385915	6	96				
OPRD1	4985	broad.mit.edu	37	1	29189480	29189480	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:29189480C>T	ENST00000234961.2	+	3	1046	c.804C>T	c.(802-804)ggC>ggT	p.G268G		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	268					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)	p.G268G(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGGTTGTGGGCGCCTTCGTGG	0.677																																						ENST00000234961.2																			1	Substitution - coding silent(1)	p.G268G(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(802-804)ggC>ggT		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						38.0	33.0	35.0					1																	29189480		2202	4299	6501	SO:0001819	synonymous_variant	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189480C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.804C>T	1.37:g.29189480C>T							p.G268G	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	1046	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	268					B5B0B8	Silent	SNP	ENST00000234961.2	37	c.804C>T	CCDS329.1																																																																																				0.677	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		5	33	0	0	0	1	0	5	33				
DSPP	1834	broad.mit.edu	37	4	88535067	88535067	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:88535067G>A	ENST00000282478.7	+	4	1286	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.G418E			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	418					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGACACAAGGAGAGGTTGTC	0.413																																						ENST00000399271.1																			0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1252-1254)gGa>gAa		dentin sialophosphoprotein							143.0	133.0	136.0					4																	88535067		1960	4150	6110	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88535067G>A	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1253G>A	4.37:g.88535067G>A	ENSP00000282478:p.Gly418Glu					RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G418E	p.G418E	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	5	1373	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	418					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.1253G>A	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777959	0.31502	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.90444	-2.67;-2.67	4.2	2.46	0.29980	.	.	.	.	.	D	0.86924	0.6050	M	0.64997	1.995	0.09310	N	1	P	0.40107	0.703	B	0.36959	0.237	T	0.78391	-0.2222	9	0.72032	D	0.01	-7.3155	6.1139	0.20116	0.2311:0.0:0.7689:0.0	.	418	Q9NZW4	DSPP_HUMAN	E	418	ENSP00000382213:G418E;ENSP00000282478:G418E	ENSP00000282478:G418E	G	+	2	0	DSPP	88754091	0.723000	0.28027	0.080000	0.20451	0.144000	0.21451	0.727000	0.25999	0.415000	0.25817	0.446000	0.29264	GGA		0.413	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		15	77	0	0	0	1	0	15	77				
MATR3	9782	broad.mit.edu	37	5	138652771	138652771	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:138652771A>G	ENST00000394805.3	+	6	1494	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G	MATR3_ENST00000502929.1_Missense_Mutation_p.R387G|MATR3_ENST00000394800.2_Missense_Mutation_p.R387G|MATR3_ENST00000502499.1_Missense_Mutation_p.R49G|MATR3_ENST00000509990.1_Missense_Mutation_p.R387G|MATR3_ENST00000503811.1_Missense_Mutation_p.R99G|MATR3_ENST00000510056.1_Missense_Mutation_p.R387G|MATR3_ENST00000504203.1_Missense_Mutation_p.R49G|MATR3_ENST00000361059.2_Missense_Mutation_p.R387G	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	387					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAAGGACCTAGACACATGCA	0.353																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1159-1161)Aga>Gga		matrin 3							87.0	85.0	85.0					5																	138652771		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138652771A>G	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1159A>G	5.37:g.138652771A>G	ENSP00000378284:p.Arg387Gly					MATR3_ENST00000502929.1_Missense_Mutation_p.R387G|MATR3_ENST00000394805.3_Missense_Mutation_p.R387G|MATR3_ENST00000502499.1_Missense_Mutation_p.R49G|MATR3_ENST00000504203.1_Missense_Mutation_p.R49G|MATR3_ENST00000503811.1_Missense_Mutation_p.R99G|MATR3_ENST00000510056.1_Missense_Mutation_p.R387G|MATR3_ENST00000361059.2_Missense_Mutation_p.R387G|MATR3_ENST00000509990.1_Missense_Mutation_p.R387G	p.R387G			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1708	+			387					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.1159A>G	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947436	0.73672	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000509644;ENST00000394805;ENST00000512876;ENST00000513678;ENST00000504045;ENST00000504311;ENST00000502499;ENST00000510056;ENST00000503811;ENST00000514528	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-0.8;-0.8;-0.23;-0.82;-0.82;-0.8;-1.15;-1.26;-1.2;-0.23;-0.8;-0.22	5.26	5.26	0.73747	.	0.225367	0.47093	D	0.000243	T	0.79678	0.4487	N	0.19112	0.55	0.50467	D	0.999873	D;D;D;D;P;D	0.57899	0.967;0.981;0.967;0.981;0.867;0.981	P;D;P;D;P;D	0.67231	0.879;0.95;0.879;0.95;0.671;0.95	T	0.82647	-0.0354	10	0.62326	D	0.03	-11.7901	15.1783	0.72934	1.0:0.0:0.0:0.0	.	99;387;99;387;387;387	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243	.;.;.;.;.;MATR3_HUMAN	G	387;387;49;387;387;49;387;49;49;387;49;49;387;99;123	ENSP00000423533:R387G;ENSP00000354346:R387G;ENSP00000421218:R49G;ENSP00000422319:R387G;ENSP00000378279:R387G;ENSP00000378284:R387G;ENSP00000425150:R49G;ENSP00000423290:R387G;ENSP00000422700:R49G;ENSP00000426030:R49G;ENSP00000426743:R387G;ENSP00000423587:R99G	ENSP00000354346:R387G	R	+	1	2	MATR3	138680670	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.604000	0.61112	1.976000	0.57569	0.377000	0.23210	AGA		0.353	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		20	24	0	0	0	1	0	20	24				
COL1A2	1278	broad.mit.edu	37	7	94038683	94038683	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:94038683C>G	ENST00000297268.6	+	17	1313	c.842C>G	c.(841-843)cCc>cGc	p.P281R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	281					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCGCCGGTCCCCGTGGTGAA	0.483										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(841-843)cCc>cGc		collagen, type I, alpha 2	Collagenase(DB00048)						87.0	102.0	97.0					7																	94038683		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038683C>G	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.842C>G	7.37:g.94038683C>G	ENSP00000297268:p.Pro281Arg	HNSCC(75;0.22)					p.P281R	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	1313	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		281					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.842C>G	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047041	0.55110	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96685	-4.09	5.73	5.73	0.89815	.	0.456273	0.23002	N	0.053072	D	0.94788	0.8317	L	0.45470	1.425	0.51012	D	0.999904	B	0.28713	0.22	B	0.28232	0.087	D	0.92067	0.5661	10	0.48119	T	0.1	.	20.2886	0.98538	0.0:1.0:0.0:0.0	.	281	P08123	CO1A2_HUMAN	R	281;282	ENSP00000297268:P281R	ENSP00000297268:P281R	P	+	2	0	COL1A2	93876619	0.974000	0.33945	1.000000	0.80357	0.671000	0.39405	3.788000	0.55446	2.882000	0.98803	0.655000	0.94253	CCC		0.483	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		44	72	0	0	0	1	0	44	72				
C1QTNF9B	387911	broad.mit.edu	37	13	24466094	24466094	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:24466094T>C	ENST00000382140.2	-	5	396	c.336A>G	c.(334-336)aaA>aaG	p.K112K	C1QTNF9B-AS1_ENST00000417034.1_RNA|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382137.3_Silent_p.K112K			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	112	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CTCGGAGGCCTTTCTCTCCCA	0.582																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(334-336)aaA>aaG		C1q and tumor necrosis factor related protein 9B							78.0	98.0	91.0					13																	24466094		2201	4298	6499	SO:0001819	synonymous_variant	387911					collagen		g.chr13:24466094T>C	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.336A>G	13.37:g.24466094T>C						C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382140.2_Silent_p.K112K|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron	p.K112K	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	404	-			112			Collagen-like 2.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	c.336A>G	CCDS31947.1																																																																																				0.582	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		3	54	0	0	0	1	0	3	54				
DSCR3	10311	broad.mit.edu	37	21	38605665	38605665	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:38605665C>T	ENST00000309117.6	-	4	667	c.430G>A	c.(430-432)Gct>Act	p.A144T	DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000398998.1_Missense_Mutation_p.A96T|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000288304.5_Missense_Mutation_p.A102T|DSCR3_ENST00000476950.1_Intron	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	144						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						AAGCTTACAGCGGAGTGAACG	0.473																																						ENST00000288304.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(304-306)Gct>Act		Down syndrome critical region gene 3							97.0	86.0	90.0					21																	38605665		2203	4300	6503	SO:0001583	missense	10311				vacuolar transport	nucleus|retromer complex		g.chr21:38605665C>T	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.430G>A	21.37:g.38605665C>T	ENSP00000311399:p.Ala144Thr					DSCR3_ENST00000309117.6_Missense_Mutation_p.A144T|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000399000.3_5'UTR|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000398998.1_Missense_Mutation_p.A96T|DSCR3_ENST00000476950.1_Intron	p.A102T			O14972	DSCR3_HUMAN			4	1096	-			144					B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	c.304G>A	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039671	0.55003	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000398998	T	0.06294	3.32	5.0	-2.94	0.05581	.	0.519646	0.20911	N	0.083476	T	0.02047	0.0064	N	0.10874	0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41251	-0.9519	10	0.16420	T	0.52	-7.0562	0.5795	0.00709	0.2895:0.1821:0.1368:0.3916	.	144	O14972	DSCR3_HUMAN	T	144;102;96	ENSP00000311399:A144T	ENSP00000288304:A102T	A	-	1	0	DSCR3	37527535	0.000000	0.05858	0.001000	0.08648	0.975000	0.68041	-0.268000	0.08607	-0.237000	0.09739	0.455000	0.32223	GCT		0.473	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			8	96	0	0	0	1	0	8	96				
CHN2	1124	broad.mit.edu	37	7	29440442	29440442	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:29440442A>G	ENST00000222792.6	+	6	1104	c.574A>G	c.(574-576)Aag>Gag	p.K192E	CHN2_ENST00000539406.1_Missense_Mutation_p.K267E|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.K177E|CHN2_ENST00000495789.2_Missense_Mutation_p.K205E|CHN2_ENST00000435288.2_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	192					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGCGGTGGAAAAGGTGAGCTG	0.458																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(574-576)Aag>Gag		chimerin 2							45.0	41.0	42.0					7																	29440442		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29440442A>G	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.574A>G	7.37:g.29440442A>G	ENSP00000222792:p.Lys192Glu					CHN2_ENST00000539406.1_Missense_Mutation_p.K267E|CHN2_ENST00000495789.2_Missense_Mutation_p.K205E|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.K177E	p.K192E	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			6	1104	+			192					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.574A>G	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304669	0.60305	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000546235;ENST00000446446	T;T;T;T;D	0.87491	-0.55;-0.47;-0.48;-0.47;-2.26	6.17	6.17	0.99709	.	0.314300	0.41097	D	0.000956	T	0.78591	0.4307	N	0.03608	-0.345	0.80722	D	1	B;P;D;B;B	0.55605	0.0;0.622;0.972;0.002;0.002	B;B;P;B;B	0.51550	0.002;0.152;0.673;0.007;0.007	T	0.77635	-0.2514	10	0.07990	T	0.79	.	16.4837	0.84171	1.0:0.0:0.0:0.0	.	177;205;267;192;192	B7Z1W9;B7Z1V0;F5H003;A4D1A2;P52757	.;.;.;.;CHIO_HUMAN	E	267;192;205;177;43	ENSP00000444063:K267E;ENSP00000222792:K192E;ENSP00000438587:K205E;ENSP00000442812:K177E;ENSP00000396867:K43E	ENSP00000222792:K192E	K	+	1	0	CHN2	29406967	1.000000	0.71417	0.966000	0.40874	0.029000	0.11900	7.457000	0.80775	2.371000	0.80710	0.533000	0.62120	AAG		0.458	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		18	41	0	0	0	1	0	18	41				
RECK	8434	broad.mit.edu	37	9	36083381	36083381	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:36083381T>C	ENST00000377966.3	+	8	1025	c.459T>C	c.(457-459)agT>agC	p.S153S	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	153	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTTGTTGCAGTTATGCAGGTC	0.388																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(457-459)agT>agC		reversion-inducing-cysteine-rich protein with kazal motifs							106.0	99.0	102.0					9																	36083381		2203	4300	6503	SO:0001819	synonymous_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36083381T>C	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.459T>C	9.37:g.36083381T>C						RECK_ENST00000479053.1_3'UTR	p.S153S	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		8	1025	+			153			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Silent	SNP	ENST00000377966.3	37	c.459T>C	CCDS6597.1																																																																																				0.388	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			55	413	0	0	0	1	0	55	413				
VARS	7407	broad.mit.edu	37	6	31747309	31747309	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:31747309G>A	ENST00000375663.3	-	28	3733	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F	VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000467576.1_5'Flank|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000447450.1_5'Flank|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000375688.4_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1098					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GTCCTTCCAGGAGCACTGTGG	0.687																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(3292-3294)tCc>tTc		valyl-tRNA synthetase	L-Valine(DB00161)						20.0	25.0	23.0					6																	31747309		1505	2700	4205	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31747309G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3293C>T	6.37:g.31747309G>A	ENSP00000364815:p.Ser1098Phe						p.S1098F	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			28	3733	-			1098					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.3293C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939836	0.52972	.	.	ENSG00000204394	ENST00000375663	T	0.11712	2.75	4.67	2.83	0.33086	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.333015	0.32836	N	0.005598	T	0.05181	0.0138	L	0.47078	1.49	0.80722	D	1	B	0.30361	0.277	B	0.40285	0.325	T	0.20140	-1.0284	10	0.72032	D	0.01	-20.0288	3.2098	0.06678	0.0961:0.1744:0.5498:0.1797	.	1098	P26640	SYVC_HUMAN	F	1098	ENSP00000364815:S1098F	ENSP00000364815:S1098F	S	-	2	0	VARS	31855288	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.592000	0.36676	0.549000	0.28973	0.462000	0.41574	TCC		0.687	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		7	29	0	0	0	1	0	7	29				
MMP10	4319	broad.mit.edu	37	11	102650092	102650092	+	Splice_Site	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:102650092C>A	ENST00000279441.4	-	3	384	c.348G>T	c.(346-348)agG>agT	p.R116S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	116					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	AATTCACAATCCTGGAGGAGA	0.368																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.e3-1		matrix metallopeptidase 10 (stromelysin 2)							108.0	107.0	107.0					11																	102650092		2203	4299	6502	SO:0001630	splice_region_variant	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102650092C>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.348-1G>T	11.37:g.102650092C>A							p.R116_splice	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	3	384	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	116					B2R9X9|Q53HH9	Splice_Site	SNP	ENST00000279441.4	37	c.347_splice	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.080608	0.36758	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.51325	2.29;0.71	4.38	0.406	0.16366	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.070527	0.53938	D	0.000060	T	0.55178	0.1904	L	0.49513	1.565	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.47071	-0.9145	10	0.34782	T	0.22	.	8.195	0.31392	0.0:0.6065:0.0:0.3935	.	116	P09238	MMP10_HUMAN	S	116	ENSP00000279441:R116S;ENSP00000441485:R116S	ENSP00000279441:R116S	R	-	3	2	MMP10	102155302	0.991000	0.36638	0.647000	0.29507	0.015000	0.08874	0.381000	0.20619	-0.013000	0.14199	0.591000	0.81541	AGG		0.368	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		Missense_Mutation	102	118	1	0	8.78727e-49	1	1.13916e-48	102	118				
CREBBP	1387	broad.mit.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A	rs398124146		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		7	Substitution - Missense(7)	p.R1446C(6)|p.R1446G(1)	haematopoietic_and_lymphoid_tissue(4)|urinary_tract(1)|lung(1)|central_nervous_system(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4336-4338)Cgc>Tgc		CREB binding protein							75.0	68.0	71.0					16																	3788618		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788618G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4336C>T	16.37:g.3788618G>A	ENSP00000262367:p.Arg1446Cys					CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	p.R1446C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	5145	-		Ovarian(90;0.0266)	1446			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4336C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	17.20	3.329498	0.60743	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94330	-3.4;-3.4	5.28	4.29	0.51040	.	0.000000	0.64402	D	0.000004	D	0.97739	0.9258	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98988	1.0807	10	0.87932	D	0	-29.6499	15.2916	0.73870	0.0:0.0:0.8588:0.1412	.	1476;1446	Q4LE28;Q92793	.;CBP_HUMAN	C	1446;1476;1408;35	ENSP00000262367:R1446C;ENSP00000371502:R1408C	ENSP00000262367:R1446C	R	-	1	0	CREBBP	3728619	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.937000	0.63513	1.303000	0.44873	0.561000	0.74099	CGC		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		16	41	0	0	0	1	0	16	41				
FAM135B	51059	broad.mit.edu	37	8	139180165	139180165	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:139180165C>A	ENST00000395297.1	-	12	1401	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	411										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACGTATCTGTCCTCAAAGATC	0.532										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1231-1233)Gac>Tac		family with sequence similarity 135, member B							100.0	102.0	101.0					8																	139180165		2007	4182	6189	SO:0001583	missense	51059							g.chr8:139180165C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1231G>T	8.37:g.139180165C>A	ENSP00000378710:p.Asp411Tyr	HNSCC(54;0.14)					p.D411Y	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1401	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		411					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1231G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115166	0.77210	.	.	ENSG00000147724	ENST00000395297	D	0.90955	-2.76	5.78	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	M	0.82323	2.585	0.54753	D	0.999985	D	0.89917	1.0	D	0.69142	0.962	D	0.95599	0.8661	10	0.87932	D	0	-21.621	13.9937	0.64382	0.0:0.9264:0.0:0.0736	.	411	Q49AJ0	F135B_HUMAN	Y	411	ENSP00000378710:D411Y	ENSP00000276737:D411Y	D	-	1	0	FAM135B	139249347	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.203000	0.65174	1.584000	0.49913	0.655000	0.94253	GAC		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		31	158	1	0	8.16721e-17	1	9.66082e-17	31	158				
PLA2G7	7941	broad.mit.edu	37	6	46672926	46672926	+	Missense_Mutation	SNP	T	T	A	rs371623990		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:46672926T>A	ENST00000274793.7	-	11	1349	c.1153A>T	c.(1153-1155)Aac>Tac	p.N385Y	PLA2G7_ENST00000537365.1_Missense_Mutation_p.N385Y	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	385					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GAAGCTTTGTTGCTAAGATCA	0.338																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(1153-1155)Aac>Tac		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							99.0	88.0	92.0					6																	46672926		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46672926T>A	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1153A>T	6.37:g.46672926T>A	ENSP00000274793:p.Asn385Tyr					PLA2G7_ENST00000537365.1_Missense_Mutation_p.N385Y	p.N385Y	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		11	1349	-			385					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.1153A>T	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.836681	0.71373	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.43688	0.94;0.94	5.87	4.72	0.59763	.	0.095269	0.64402	D	0.000001	T	0.55940	0.1952	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60627	-0.7226	10	0.38643	T	0.18	-18.5463	11.5708	0.50832	0.0:0.0701:0.0:0.9299	.	385	Q13093	PAFA_HUMAN	Y	385	ENSP00000274793:N385Y;ENSP00000445666:N385Y	ENSP00000274793:N385Y	N	-	1	0	PLA2G7	46780885	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	4.747000	0.62141	1.059000	0.40554	0.482000	0.46254	AAC		0.338	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			20	77	0	0	0	1	0	20	77				
AGBL1	123624	broad.mit.edu	37	15	86800203	86800203	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:86800203G>T	ENST00000441037.2	+	7	812	c.717G>T	c.(715-717)ccG>ccT	p.P239P	AGBL1_ENST00000421325.2_Silent_p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	239					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTTCCCGGTCCCCGGGT	0.507																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(715-717)ccG>ccT		ATP/GTP binding protein-like 1							74.0	75.0	75.0					15																	86800203		2039	4197	6236	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86800203G>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.717G>T	15.37:g.86800203G>T						AGBL1_ENST00000421325.2_Silent_p.P239P	p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			7	812	+			239					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.717G>T	CCDS58398.1																																																																																				0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		16	41	1	0	3.45872e-05	1	3.64454e-05	16	41				
IL1RAPL2	26280	broad.mit.edu	37	X	104440332	104440332	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:104440332C>A	ENST00000372582.1	+	3	1014	c.258C>A	c.(256-258)ccC>ccA	p.P86P	IL1RAPL2_ENST00000344799.4_Silent_p.P86P	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	86	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGAAGAGCCCATCATCTTTT	0.443																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(256-258)ccC>ccA		interleukin 1 receptor accessory protein-like 2							103.0	87.0	92.0					X																	104440332		2203	4300	6503	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104440332C>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.258C>A	X.37:g.104440332C>A						IL1RAPL2_ENST00000344799.4_Silent_p.P86P	p.P86P	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			3	1014	+			86			Ig-like C2-type 1.		Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.258C>A	CCDS14517.1																																																																																				0.443	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		35	42	1	0	6.90743e-12	1	7.83529e-12	35	42				
SAMD9	54809	broad.mit.edu	37	7	92733305	92733305	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:92733305A>G	ENST00000379958.2	-	3	2375	c.2106T>C	c.(2104-2106)tcT>tcC	p.S702S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	702						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAAAAGGTGAAGAATAACTTT	0.343																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2104-2106)tcT>tcC		sterile alpha motif domain containing 9							152.0	151.0	151.0					7																	92733305		2203	4299	6502	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92733305A>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2106T>C	7.37:g.92733305A>G							p.S702S	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2375	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		702					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.2106T>C	CCDS34680.1																																																																																				0.343	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		55	217	0	0	0	1	0	55	217				
PLA1A	51365	broad.mit.edu	37	3	119325794	119325794	+	Nonsense_Mutation	SNP	G	G	T	rs141940849		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:119325794G>T	ENST00000273371.4	+	2	319	c.247G>T	c.(247-249)Gga>Tga	p.G83*	PLA1A_ENST00000494440.1_Nonsense_Mutation_p.G67*|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000495992.1_Nonsense_Mutation_p.G83*	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	83					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCACTCTGGGAACCAAACT	0.428																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(247-249)Gga>Tga		phospholipase A1 member A							128.0	135.0	133.0					3																	119325794		2203	4300	6503	SO:0001587	stop_gained	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119325794G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.247G>T	3.37:g.119325794G>T	ENSP00000273371:p.Gly83*					PLA1A_ENST00000494440.1_Nonsense_Mutation_p.G67*|PLA1A_ENST00000495992.1_Nonsense_Mutation_p.G83*|PLA1A_ENST00000488919.1_Intron	p.G83*	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			2	319	+			83					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Nonsense_Mutation	SNP	ENST00000273371.4	37	c.247G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686027	0.88639	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	.	.	.	4.67	4.67	0.58626	.	0.211539	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-7.4212	14.953	0.71088	0.0:0.0:1.0:0.0	.	.	.	.	X	83;83;67	.	ENSP00000273371:G83X	G	+	1	0	PLA1A	120808484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.260000	0.43267	2.595000	0.87683	0.655000	0.94253	GGA		0.428	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			34	158	1	0	8.4185e-14	1	9.69403e-14	34	158				
PCDHA1	56147	broad.mit.edu	37	5	140167229	140167229	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140167229G>T	ENST00000504120.2	+	1	1354	c.1354G>T	c.(1354-1356)Gcg>Tcg	p.A452S	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A452S|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A452S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCGCCTGCGTT	0.677																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1354-1356)Gcg>Tcg									73.0	77.0	76.0					5																	140167229		2203	4299	6502	SO:0001583	missense	56147							g.chr5:140167229G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1354G>T	5.37:g.140167229G>T	ENSP00000420840:p.Ala452Ser					PCDHA1_ENST00000394633.3_Missense_Mutation_p.A452S|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A452S	p.A452S	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1354	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1354G>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	14.55	2.569150	0.45798	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.02606	4.23;4.23;4.23	4.02	4.02	0.46733	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.41097	U	0.000943	T	0.06234	0.0161	L	0.31294	0.92	0.21897	N	0.999482	P;P;D	0.54397	0.897;0.63;0.966	P;B;P	0.57324	0.818;0.195;0.629	T	0.13980	-1.0489	10	0.72032	D	0.01	.	12.4593	0.55723	0.0:0.1692:0.8308:0.0	.	452;452;452	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	S	452	ENSP00000420840:A452S;ENSP00000378129:A452S;ENSP00000367373:A452S	ENSP00000367373:A452S	A	+	1	0	PCDHA1	140147413	0.914000	0.31030	0.880000	0.34516	0.161000	0.22273	1.687000	0.37680	1.984000	0.57885	0.549000	0.68633	GCG		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		55	59	1	0	8.28887e-21	1	1.02017e-20	55	59				
KCNJ6	3763	broad.mit.edu	37	21	39086663	39086663	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:39086663G>A	ENST00000609713.1	-	3	1386	c.797C>T	c.(796-798)aCg>aTg	p.T266M	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.T266M	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	266					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTCATCCCCCGTGTAATACCC	0.507																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(796-798)aCg>aTg		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						127.0	130.0	129.0					21																	39086663		1928	4147	6075	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086663G>A	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.797C>T	21.37:g.39086663G>A	ENSP00000477437:p.Thr266Met					KCNJ6_ENST00000288309.6_Missense_Mutation_p.T266M	p.T266M	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	1386	-			266					Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.797C>T	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525713	0.85600	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.91792	-2.91;-2.91	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95956	0.8958	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	266	P48051	IRK6_HUMAN	M	266	ENSP00000383330:T266M;ENSP00000288309:T266M	ENSP00000288309:T266M	T	-	2	0	KCNJ6	38008533	1.000000	0.71417	0.980000	0.43619	0.964000	0.63967	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACG		0.507	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		60	101	0	0	0	1	0	60	101				
IFI44	10561	broad.mit.edu	37	1	79128500	79128500	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:79128500G>C	ENST00000370747.4	+	8	1310	c.1225G>C	c.(1225-1227)Gct>Cct	p.A409P	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	409					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATTCTTTCTGCTCTGAGACG	0.453																																						ENST00000370747.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1225-1227)Gct>Cct		interferon-induced protein 44							204.0	192.0	196.0					1																	79128500		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79128500G>C	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1225G>C	1.37:g.79128500G>C	ENSP00000359783:p.Ala409Pro					IFI44_ENST00000495254.1_3'UTR	p.A409P	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN			8	1310	+			409					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.1225G>C	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435647	0.43224	.	.	ENSG00000137965	ENST00000370747	T	0.26067	1.76	3.28	2.33	0.28932	.	0.280434	0.32736	N	0.005709	T	0.36386	0.0965	M	0.86740	2.835	0.80722	D	1	D	0.64830	0.994	P	0.59889	0.865	T	0.37911	-0.9685	10	0.62326	D	0.03	.	9.365	0.38219	0.0:0.0:0.7679:0.2321	.	409	Q8TCB0	IFI44_HUMAN	P	409	ENSP00000359783:A409P	ENSP00000359783:A409P	A	+	1	0	IFI44	78901088	0.800000	0.28916	0.191000	0.23289	0.234000	0.25298	2.366000	0.44204	0.889000	0.36185	0.514000	0.50259	GCT		0.453	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		39	147	0	0	0	1	0	39	147				
FAM91A1	157769	broad.mit.edu	37	8	124817558	124817558	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:124817558G>C	ENST00000334705.7	+	19	2107	c.1861G>C	c.(1861-1863)Gat>Cat	p.D621H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.D621H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	621										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATTTCCATTTGATGAAACAGA	0.343																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1861-1863)Gat>Cat		family with sequence similarity 91, member A1							114.0	99.0	104.0					8																	124817558		1837	4080	5917	SO:0001583	missense	157769							g.chr8:124817558G>C	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1861G>C	8.37:g.124817558G>C	ENSP00000335082:p.Asp621His					FAM91A1_ENST00000521166.1_Missense_Mutation_p.D621H	p.D621H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		19	2107	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		621					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.1861G>C	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179749	0.78564	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.32272	1.46;1.46	5.46	5.46	0.80206	.	0.142348	0.64402	D	0.000008	T	0.45915	0.1366	L	0.59436	1.845	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.52343	0.646;0.696	T	0.42632	-0.9440	10	0.62326	D	0.03	.	19.3147	0.94207	0.0:0.0:1.0:0.0	.	621;621	E7ER68;Q658Y4	.;F91A1_HUMAN	H	621	ENSP00000429491:D621H;ENSP00000335082:D621H	ENSP00000335082:D621H	D	+	1	0	FAM91A1	124886739	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.627000	0.74258	2.563000	0.86464	0.467000	0.42956	GAT		0.343	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		14	54	0	0	0	1	0	14	54				
ATP1A2	477	broad.mit.edu	37	1	160097546	160097546	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:160097546C>T	ENST00000361216.3	+	8	1042	c.953C>T	c.(952-954)gCa>gTa	p.A318V	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A318V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	318					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGCTGGAGGCAGTCATCTTC	0.592																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(952-954)gCa>gTa		ATPase, Na+/K+ transporting, alpha 2 polypeptide							121.0	115.0	117.0					1																	160097546		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160097546C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.953C>T	1.37:g.160097546C>T	ENSP00000354490:p.Ala318Val					ATP1A2_ENST00000392233.3_Missense_Mutation_p.A318V|ATP1A2_ENST00000472488.1_3'UTR	p.A318V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		8	1042	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		318					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.953C>T	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.382171|5.382171	0.95967|0.95967	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233|ENST00000447527	D;D|.	0.90788|.	-2.73;-2.73|.	4.65|4.65	4.65|4.65	0.58169|0.58169	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60996|.	0.2312|.	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	P;P;P|.	0.52463|.	0.953;0.942;0.953|.	P;P;P|.	0.61201|.	0.885;0.817;0.771|.	T|.	0.60089|.	-0.7331|.	10|.	0.59425|.	D|.	0.04|.	.|.	16.6527|16.6527	0.85220|0.85220	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	163;218;318|.	B4DHD7;F5GXJ7;P50993|.	.;.;AT1A2_HUMAN|.	V|X	163;318;318|29	ENSP00000354490:A318V;ENSP00000376066:A318V|.	ENSP00000354490:A318V|.	A|Q	+|+	2|1	0|0	ATP1A2|ATP1A2	158364170|158364170	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.995000|0.995000	0.86356|0.86356	7.750000|7.750000	0.85110|0.85110	2.293000|2.293000	0.77203|0.77203	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.592	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		82	111	0	0	0	1	0	82	111				
WDR60	55112	broad.mit.edu	37	7	158704263	158704263	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:158704263C>T	ENST00000407559.3	+	12	1641	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	495					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAACTGCTTCGGCTCATTGA	0.333																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(1483-1485)Cgg>Tgg		WD repeat domain 60							98.0	90.0	92.0					7																	158704263		1818	4084	5902	SO:0001583	missense	55112							g.chr7:158704263C>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1483C>T	7.37:g.158704263C>T	ENSP00000384290:p.Arg495Trp						p.R495W	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	12	1641	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	495					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.1483C>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797972	0.90538	.	.	ENSG00000126870	ENST00000407559	D	0.85773	-2.03	5.03	5.03	0.67393	.	0.071868	0.56097	D	0.000023	D	0.91033	0.7179	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	P	0.60236	0.871	D	0.92347	0.5886	10	0.87932	D	0	-15.4983	15.8944	0.79323	0.0:1.0:0.0:0.0	.	495	Q8WVS4	WDR60_HUMAN	W	495	ENSP00000384290:R495W	ENSP00000384290:R495W	R	+	1	2	WDR60	158397024	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.022000	0.64078	2.330000	0.79161	0.462000	0.41574	CGG		0.333	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		24	65	0	0	0	1	0	24	65				
FOXG1	2290	broad.mit.edu	37	14	29237395	29237395	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:29237395G>A	ENST00000313071.4	+	1	1109	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	FOXG1_ENST00000382535.3_Missense_Mutation_p.G304S|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	304				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGACCGCGCCGGCTCCCTCTA	0.701																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(910-912)Ggc>Agc		forkhead box G1							49.0	59.0	56.0					14																	29237395		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237395G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.910G>A	14.37:g.29237395G>A	ENSP00000339004:p.Gly304Ser					FOXG1_ENST00000313071.4_Missense_Mutation_p.G304S	p.G304S			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1279	+			304	RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).				A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.910G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758096	0.69648	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93547	-3.24;-3.24	4.19	4.19	0.49359	.	0.126160	0.52532	U	0.000070	D	0.87152	0.6106	L	0.27053	0.805	0.54753	D	0.999986	P	0.35628	0.513	B	0.23716	0.048	D	0.88088	0.2811	10	0.59425	D	0.04	.	16.0962	0.81127	0.0:0.0:1.0:0.0	.	304	P55316	FOXG1_HUMAN	S	304	ENSP00000371975:G304S;ENSP00000339004:G304S	ENSP00000339004:G304S	G	+	1	0	FOXG1	28307146	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.612000	0.74187	1.868000	0.54150	0.313000	0.20887	GGC		0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			12	63	0	0	0	1	0	12	63				
MAP3K19	80122	broad.mit.edu	37	2	135739064	135739064	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:135739064C>T	ENST00000375845.3	-	9	3277	c.3247G>A	c.(3247-3249)Gga>Aga	p.G1083R	MAP3K19_ENST00000392917.3_Missense_Mutation_p.G215R|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G265R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G970R|MAP3K19_ENST00000392915.1_Silent_p.K1150K	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1083	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ATTAGCTGTCCTTGACTAGTG	0.363																																						ENST00000375845.3																			0											c.(3247-3249)Gga>Aga		mitogen-activated protein kinase kinase kinase 19							75.0	73.0	74.0					2																	135739064		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135739064C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3247G>A	2.37:g.135739064C>T	ENSP00000365005:p.Gly1083Arg					MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G215R|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.K1150K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G265R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G970R	p.G1083R	NM_025052.3	NP_079328.3					9	3277	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3247G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252579	0.59212	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392917;ENST00000437365	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.88	5.88	0.94601	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	0.46758	D	0.000265	T	0.61565	0.2357	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.61884	-0.6971	10	0.87932	D	0	.	19.2304	0.93836	0.0:1.0:0.0:0.0	.	215;970;265;1083	B7ZMH9;Q56UN5-3;Q56UN5-5;Q56UN5	.;.;.;YSK4_HUMAN	R	1083;970;265;215;473	ENSP00000365005:G1083R;ENSP00000351140:G970R;ENSP00000365004:G265R;ENSP00000376649:G215R;ENSP00000392827:G473R	ENSP00000351140:G970R	G	-	1	0	YSK4	135455534	1.000000	0.71417	0.999000	0.59377	0.032000	0.12392	7.616000	0.83018	2.782000	0.95742	0.655000	0.94253	GGA		0.363	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		65	156	0	0	0	1	0	65	156				
VWCE	220001	broad.mit.edu	37	11	61031985	61031985	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:61031985G>T	ENST00000335613.5	-	19	2590	c.2204C>A	c.(2203-2205)cCt>cAt	p.P735H	VWCE_ENST00000535710.1_Missense_Mutation_p.P200H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	735	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCAGTCCCCAGGAAGCAGGGC	0.582																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2203-2205)cCt>cAt		von Willebrand factor C and EGF domains							49.0	43.0	45.0					11																	61031985		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61031985G>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2204C>A	11.37:g.61031985G>T	ENSP00000334186:p.Pro735His					VWCE_ENST00000535710.1_Missense_Mutation_p.P200H	p.P735H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			19	2590	-			735			VWFC 6.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2204C>A	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	5.150	0.213196	0.09757	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.68331	-0.32;-0.32	4.16	-0.0544	0.13813	von Willebrand factor, type C (4);	1.164800	0.06713	N	0.773607	T	0.70762	0.3261	M	0.84683	2.71	0.09310	N	1	B	0.32425	0.371	B	0.39119	0.291	T	0.61168	-0.7117	10	0.72032	D	0.01	.	4.76	0.13102	0.2751:0.1585:0.5664:0.0	.	735	Q96DN2	VWCE_HUMAN	H	735;200	ENSP00000334186:P735H;ENSP00000442570:P200H	ENSP00000334186:P735H	P	-	2	0	VWCE	60788561	0.010000	0.17322	0.000000	0.03702	0.008000	0.06430	1.154000	0.31688	-0.354000	0.08212	-0.263000	0.10527	CCT		0.582	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		6	21	1	0	3.59834e-05	1	3.77856e-05	6	21				
SLC44A3	126969	broad.mit.edu	37	1	95293066	95293066	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:95293066C>T	ENST00000271227.6	+	4	384	c.282C>T	c.(280-282)caC>caT	p.H94H	SLC44A3_ENST00000527077.1_Silent_p.H58H|SLC44A3_ENST00000467909.1_Silent_p.H46H|SLC44A3_ENST00000446120.2_Silent_p.H58H|SLC44A3_ENST00000532427.1_Silent_p.H46H|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Silent_p.H94H	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	94					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTCCTAGACACGTGTTCTTTA	0.448																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(280-282)caC>caT		solute carrier family 44, member 3	Choline(DB00122)						125.0	119.0	121.0					1																	95293066		2203	4300	6503	SO:0001819	synonymous_variant	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95293066C>T	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.282C>T	1.37:g.95293066C>T						SLC44A3_ENST00000527077.1_Silent_p.H58H|SLC44A3_ENST00000532427.1_Silent_p.H46H|SLC44A3_ENST00000467909.1_Silent_p.H46H|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Silent_p.H58H|SLC44A3_ENST00000529450.1_Silent_p.H94H	p.H94H	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	4	384	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	94					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Silent	SNP	ENST00000271227.6	37	c.282C>T	CCDS44176.1																																																																																				0.448	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		10	81	0	0	0	1	0	10	81				
PDE3A	5139	broad.mit.edu	37	12	20807067	20807067	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:20807067G>A	ENST00000359062.3	+	15	3152	c.3112G>A	c.(3112-3114)Gac>Aac	p.D1038N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1038	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGATACTGATGACCCAGAAGA	0.448																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3112-3114)Gac>Aac		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						126.0	126.0	126.0					12																	20807067		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20807067G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3112G>A	12.37:g.20807067G>A	ENSP00000351957:p.Asp1038Asn					PDE3A_ENST00000544307.1_3'UTR	p.D1038N	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			15	3152	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1038			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3112G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946387	0.73672	.	.	ENSG00000172572	ENST00000359062	T	0.76448	-1.02	5.31	5.31	0.75309	.	1.536070	0.04089	N	0.311005	T	0.73133	0.3548	L	0.36672	1.1	0.54753	D	0.999986	P	0.45531	0.86	B	0.36989	0.238	T	0.64487	-0.6396	10	0.15952	T	0.53	.	19.3412	0.94342	0.0:0.0:1.0:0.0	.	1038	Q14432	PDE3A_HUMAN	N	1038	ENSP00000351957:D1038N	ENSP00000351957:D1038N	D	+	1	0	PDE3A	20698334	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.914000	0.69964	2.657000	0.90304	0.655000	0.94253	GAC		0.448	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			26	52	0	0	0	1	0	26	52				
AHNAK	79026	broad.mit.edu	37	11	62288724	62288724	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:62288724C>T	ENST00000378024.4	-	5	13439	c.13165G>A	c.(13165-13167)Gac>Aac	p.D4389N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4389					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTCAATGTCAGGCATGGAG	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13165-13167)Gac>Aac		AHNAK nucleoprotein							150.0	158.0	155.0					11																	62288724		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288724C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13165G>A	11.37:g.62288724C>T	ENSP00000367263:p.Asp4389Asn					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D4389N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13439	-		Melanoma(852;0.155)	4389					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13165G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406495	0.42715	.	.	ENSG00000124942	ENST00000378024	T	0.01629	4.72	4.84	4.84	0.62591	.	0.062617	0.64402	D	0.000009	T	0.13200	0.0320	M	0.90483	3.12	0.49389	D	0.999784	D	0.76494	0.999	D	0.71184	0.972	T	0.08889	-1.0700	10	0.31617	T	0.26	.	17.9337	0.89006	0.0:1.0:0.0:0.0	.	4389	Q09666	AHNK_HUMAN	N	4389	ENSP00000367263:D4389N	ENSP00000367263:D4389N	D	-	1	0	AHNAK	62045300	1.000000	0.71417	0.996000	0.52242	0.468000	0.32798	4.775000	0.62346	2.381000	0.81170	0.551000	0.68910	GAC		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		64	438	0	0	0	1	0	64	438				
C7orf62	219557	broad.mit.edu	37	7	88423891	88423891	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:88423891T>C	ENST00000297203.2	-	2	551	c.366A>G	c.(364-366)acA>acG	p.T122T	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	122										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAAAAAATACTGTTTCATCTT	0.348																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(364-366)acA>acG		chromosome 7 open reading frame 62							49.0	51.0	51.0					7																	88423891		2203	4300	6503	SO:0001819	synonymous_variant	219557							g.chr7:88423891T>C	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.366A>G	7.37:g.88423891T>C						ZNF804B_ENST00000333190.4_Intron	p.T122T	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	551	-			122						Silent	SNP	ENST00000297203.2	37	c.366A>G	CCDS34678.1																																																																																				0.348	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		13	54	0	0	0	1	0	13	54				
ASIC5	51802	broad.mit.edu	37	4	156775228	156775228	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:156775228C>T	ENST00000537611.2	-	3	632		c.e3+1			NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										AAAATCGTTACCTTTGGGCTA	0.368																																						ENST00000537611.2																			0											c.e3+1		acid-sensing (proton-gated) ion channel family member 5							73.0	74.0	74.0					4																	156775228		2203	4300	6503	SO:0001630	splice_region_variant	51802					integral to membrane|plasma membrane		g.chr4:156775228C>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.585+1G>A	4.37:g.156775228C>T								NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			3	632	-									Splice_Site	SNP	ENST00000537611.2	37		CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584760	0.46110	.	.	ENSG00000256394	ENST00000537611	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8347	0.88692	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACCN5	156994678	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.933000	0.63484	2.382000	0.81193	0.585000	0.79938	.		0.368	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		Intron	14	78	0	0	0	1	0	14	78				
NAT16	375607	broad.mit.edu	37	7	100815522	100815522	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:100815522G>A	ENST00000300303.2	-	4	1186	c.948C>T	c.(946-948)caC>caT	p.H316H	NAT16_ENST00000455377.1_Silent_p.H316H	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	316							N-acetyltransferase activity (GO:0008080)										GGCGCTGCAGGTGCCACAGCA	0.672																																						ENST00000300303.2																			0											c.(946-948)caC>caT		N-acetyltransferase 16 (GCN5-related, putative)							15.0	17.0	16.0					7																	100815522		2189	4290	6479	SO:0001819	synonymous_variant	375607						N-acetyltransferase activity	g.chr7:100815522G>A	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.948C>T	7.37:g.100815522G>A						NAT16_ENST00000455377.1_Silent_p.H316H	p.H316H	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			4	1186	-			316					B3KRS2|Q8NDR1	Silent	SNP	ENST00000300303.2	37	c.948C>T	CCDS5713.1																																																																																				0.672	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		10	30	0	0	0	1	0	10	30				
PCDH11X	27328	broad.mit.edu	37	X	91133063	91133063	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:91133063C>A	ENST00000373094.1	+	2	2669	c.1824C>A	c.(1822-1824)tcC>tcA	p.S608S	PCDH11X_ENST00000298274.8_Silent_p.S608S|PCDH11X_ENST00000373097.1_Silent_p.S608S|PCDH11X_ENST00000504220.2_Silent_p.S608S|PCDH11X_ENST00000361655.2_Silent_p.S608S|PCDH11X_ENST00000361724.1_Silent_p.S608S|PCDH11X_ENST00000373088.1_Silent_p.S608S|PCDH11X_ENST00000395337.2_Silent_p.S608S|PCDH11X_ENST00000406881.1_Silent_p.S608S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTACGCTCTCCATTTTAGATG	0.378																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1822-1824)tcC>tcA		protocadherin 11 X-linked							25.0	23.0	24.0					X																	91133063		2194	4275	6469	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133063C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1824C>A	X.37:g.91133063C>A						PCDH11X_ENST00000361655.2_Silent_p.S608S|PCDH11X_ENST00000298274.8_Silent_p.S608S|PCDH11X_ENST00000504220.1_Silent_p.S608S|PCDH11X_ENST00000361724.1_Silent_p.S608S|PCDH11X_ENST00000406881.1_Silent_p.S608S|PCDH11X_ENST00000395337.2_Silent_p.S608S|PCDH11X_ENST00000373097.1_Silent_p.S608S|PCDH11X_ENST00000373088.1_Silent_p.S608S	p.S608S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2669	+			608			Cadherin 6.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.1824C>A	CCDS14461.1																																																																																				0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		19	50	1	0	2.04263e-09	1	2.24173e-09	19	50				
PDE3A	5139	broad.mit.edu	37	12	20801742	20801742	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:20801742C>T	ENST00000359062.3	+	13	2726	c.2686C>T	c.(2686-2688)Cat>Tat	p.H896Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	896	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGAATTTAAGCATTTCCGTTT	0.408																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2686-2688)Cat>Tat		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						143.0	131.0	135.0					12																	20801742		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801742C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2686C>T	12.37:g.20801742C>T	ENSP00000351957:p.His896Tyr					PDE3A_ENST00000544307.1_3'UTR	p.H896Y	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			13	2726	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	896			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2686C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108986	0.77096	.	.	ENSG00000172572	ENST00000359062	D	0.81499	-1.5	5.76	5.76	0.90799	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.051076	0.85682	D	0.000000	T	0.80592	0.4652	N	0.16166	0.38	0.47547	D	0.999456	D	0.71674	0.998	D	0.65323	0.934	D	0.83359	0.0001	10	0.72032	D	0.01	.	14.7627	0.69617	0.1444:0.8556:0.0:0.0	.	896	Q14432	PDE3A_HUMAN	Y	896	ENSP00000351957:H896Y	ENSP00000351957:H896Y	H	+	1	0	PDE3A	20693009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.575000	0.67430	2.722000	0.93159	0.650000	0.86243	CAT		0.408	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			63	144	0	0	0	1	0	63	144				
KIF18A	81930	broad.mit.edu	37	11	28057765	28057765	+	Splice_Site	SNP	G	G	A	rs193161481		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:28057765G>A	ENST00000263181.6	-	14	2685	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	799					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTTTGTACCGTTGTAAAATG	0.299													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16256	0.0		0.0	False		,,,				2504	0.0					ENST00000263181.6																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.e14+1		kinesin family member 18A							57.0	58.0	57.0					11																	28057765		2197	4288	6485	SO:0001630	splice_region_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28057765G>A	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2396+1C>T	11.37:g.28057765G>A							p.R799_splice	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			14	2685	-			799					Q4VPE3|Q86VS5|Q9H0F3	Splice_Site	SNP	ENST00000263181.6	37	c.2396_splice	CCDS7867.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.97	3.735162	0.69189	.	.	ENSG00000121621	ENST00000263181	T	0.77098	-1.07	5.41	4.31	0.51392	.	0.000000	0.64402	D	0.000017	T	0.81211	0.4775	L	0.36672	1.1	0.44373	D	0.99727	D	0.89917	1.0	D	0.73708	0.981	T	0.81911	-0.0716	10	0.87932	D	0	.	10.7831	0.46390	0.0:0.0:0.2076:0.7924	.	799	Q8NI77	KI18A_HUMAN	W	799	ENSP00000263181:R799W	ENSP00000263181:R799W	R	-	1	2	KIF18A	28014341	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.711000	0.37930	1.040000	0.40099	0.655000	0.94253	CGG		0.299	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	Missense_Mutation	8	38	0	0	0	1	0	8	38				
ATXN1	6310	broad.mit.edu	37	6	16327909	16327909	+	Missense_Mutation	SNP	A	A	C	rs59310777	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:16327909A>C	ENST00000244769.4	-	8	1569	c.633T>G	c.(631-633)caT>caG	p.H211Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgatgctgatgct	0.672													A|||	1334	0.266374	0.2897	0.2161	5008	,	,		12493	0.3879		0.0964	False		,,,				2504	0.32					ENST00000244769.4																			1	Deletion - In frame(1)	p.H209_H211delHQH(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(631-633)caT>caG		ataxin 1							4.0	7.0	6.0					6																	16327909		1575	3495	5070	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327909A>C	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.633T>G	6.37:g.16327909A>C	ENSP00000244769:p.His211Gln					ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q	p.H211Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1569	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	211	H -> HQ (in Ref. 1; CAA55793).		Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.633T>G	CCDS34342.1	369	0.16895604395604397	105	0.21341463414634146	59	0.16298342541436464	150	0.26223776223776224	55	0.07255936675461741	A	5.976	0.364085	0.11296	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.50813	0.73;0.73	.	.	.	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.31223	-0.9951	4	0.15952	T	0.53	.	.	.	.	rs59310777	211	P54253	ATX1_HUMAN	Q	211	ENSP00000244769:H211Q;ENSP00000416360:H211Q	ENSP00000244769:H211Q	H	-	3	2	ATXN1	16435888	0.694000	0.27738	0.023000	0.16930	0.066000	0.16364	1.537000	0.36083	0.000000	0.14550	0.000000	0.15137	CAT		0.672	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	18	0	0	0	1	0	4	18				
CAMK1	8536	broad.mit.edu	37	3	9804847	9804847	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:9804847C>T	ENST00000256460.3	-	4	443	c.266G>A	c.(265-267)gGc>gAc	p.G89D	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTAGAGGTGGCCCCCACTCTC	0.577																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(265-267)gGc>gAc		calcium/calmodulin-dependent protein kinase I							140.0	126.0	131.0					3																	9804847		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9804847C>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.266G>A	3.37:g.9804847C>T	ENSP00000256460:p.Gly89Asp					OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron	p.G89D	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	4	443	-	Medulloblastoma(99;0.227)		89			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.266G>A	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	3.497	-0.102602	0.06967	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.63096	1.11;-0.02	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.183825	0.48286	D	0.000192	T	0.39384	0.1076	N	0.03194	-0.395	0.40431	D	0.979947	B	0.02656	0.0	B	0.09377	0.004	T	0.29458	-1.0011	10	0.29301	T	0.29	-22.2502	14.9606	0.71153	0.0:0.8569:0.1431:0.0	.	89	Q14012	KCC1A_HUMAN	D	89;45	ENSP00000256460:G89D;ENSP00000404587:G45D	ENSP00000256460:G89D	G	-	2	0	CAMK1	9779847	0.992000	0.36948	1.000000	0.80357	0.833000	0.47200	3.436000	0.52856	2.422000	0.82143	0.557000	0.71058	GGC		0.577	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		27	80	0	0	0	1	0	27	80				
USP9X	8239	broad.mit.edu	37	X	41089764	41089764	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:41089764A>G	ENST00000324545.8	+	44	8123	c.7490A>G	c.(7489-7491)gAc>gGc	p.D2497G	USP9X_ENST00000378308.2_Missense_Mutation_p.D2481G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2497					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAGCCAGATGACCAAGATGCT	0.368																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(7489-7491)gAc>gGc		ubiquitin specific peptidase 9, X-linked							74.0	72.0	72.0					X																	41089764		2110	4259	6369	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41089764A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7490A>G	X.37:g.41089764A>G	ENSP00000316357:p.Asp2497Gly					USP9X_ENST00000378308.2_Missense_Mutation_p.D2481G	p.D2497G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			44	8123	+			2497					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.7490A>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394035	0.62066	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03358	3.97;3.96	5.34	5.34	0.76211	.	0.143299	0.64402	D	0.000008	T	0.04137	0.0115	L	0.34521	1.04	0.58432	D	0.999998	B;B	0.26635	0.13;0.155	B;B	0.26614	0.052;0.071	T	0.51411	-0.8709	10	0.20519	T	0.43	.	14.4153	0.67145	1.0:0.0:0.0:0.0	.	2481;2497	Q93008-1;Q93008	.;USP9X_HUMAN	G	2481;2497	ENSP00000367558:D2481G;ENSP00000316357:D2497G	ENSP00000316357:D2497G	D	+	2	0	USP9X	40974708	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.576000	0.90770	1.783000	0.52377	0.381000	0.24937	GAC		0.368	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		32	40	0	0	0	1	0	32	40				
IQSEC1	9922	broad.mit.edu	37	3	12950863	12950863	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:12950863C>T	ENST00000273221.4	-	11	2746	c.2530G>A	c.(2530-2532)Gcc>Acc	p.A844T		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	844	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTTGGGGGCGTTGAAGTTT	0.537																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2530-2532)Gcc>Acc		IQ motif and Sec7 domain 1							122.0	126.0	124.0					3																	12950863		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12950863C>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2530G>A	3.37:g.12950863C>T	ENSP00000273221:p.Ala844Thr						p.A844T	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			11	2746	-			844			PH.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.2530G>A	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.835967|4.835967	0.91117|0.91117	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247|ENST00000450726	T;T|.	0.81078|.	-1.45;-1.45|.	4.86|4.86	3.96|3.96	0.45880|0.45880	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.051098|.	0.85682|.	D|.	0.000000|.	T|T	0.70219|0.70219	0.3199|0.3199	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;0.985|.	P;D;P|.	0.87578|.	0.816;0.998;0.53|.	T|T	0.69687|0.69687	-0.5078|-0.5078	9|4	0.56958|.	D|.	0.05|.	.|.	15.1061|15.1061	0.72322|0.72322	0.0:0.8574:0.1426:0.0|0.0:0.8574:0.1426:0.0	.|.	830;830;844|.	E9PG60;C9JMG9;Q6DN90|.	.;.;IQEC1_HUMAN|.	T|H	844;830;830|844	ENSP00000273221:A844T;ENSP00000402299:A830T|.	ENSP00000273221:A844T|.	A|R	-|-	1|2	0|0	IQSEC1|IQSEC1	12925863|12925863	1.000000|1.000000	0.71417|0.71417	0.290000|0.290000	0.24890|0.24890	0.950000|0.950000	0.60333|0.60333	7.776000|7.776000	0.85560|0.85560	1.128000|1.128000	0.42052|0.42052	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.537	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		43	155	0	0	0	1	0	43	155				
GRIA4	2893	broad.mit.edu	37	11	105795149	105795149	+	Missense_Mutation	SNP	C	C	G	rs115477628		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:105795149C>G	ENST00000530497.1	+	11	1501	c.1501C>G	c.(1501-1503)Ctg>Gtg	p.L501V	GRIA4_ENST00000393127.2_Missense_Mutation_p.L501V|GRIA4_ENST00000525187.1_Missense_Mutation_p.L501V|GRIA4_ENST00000282499.5_Missense_Mutation_p.L501V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	501	Glutamate binding. {ECO:0000250}.				glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TATTGCCCCTCTGACAATCAC	0.388																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1501-1503)Ctg>Gtg		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						107.0	108.0	107.0					11																	105795149		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105795149C>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1501C>G	11.37:g.105795149C>G	ENSP00000435775:p.Leu501Val					GRIA4_ENST00000530497.1_Missense_Mutation_p.L501V|GRIA4_ENST00000282499.5_Missense_Mutation_p.L501V|GRIA4_ENST00000525187.1_Missense_Mutation_p.L501V	p.L501V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	12	1947	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	501			Glutamate binding (By similarity).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1501C>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276376	0.59649	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.76	5.76	0.90799	Ionotropic glutamate receptor (1);	0.000000	0.52532	D	0.000069	T	0.64170	0.2574	M	0.73962	2.25	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.85130	0.96;0.997	T	0.66073	-0.6014	10	0.87932	D	0	.	13.5255	0.61593	0.0:0.9287:0.0:0.0713	.	501;501	P48058;G3V164	GRIA4_HUMAN;.	V	501	ENSP00000282499:L501V;ENSP00000376835:L501V;ENSP00000435775:L501V;ENSP00000432180:L501V	ENSP00000282499:L501V	L	+	1	2	GRIA4	105300359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.402000	0.34600	2.882000	0.98803	0.655000	0.94253	CTG		0.388	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			96	133	0	0	0	1	0	96	133				
RUSC2	9853	broad.mit.edu	37	9	35548376	35548376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:35548376C>T	ENST00000455600.1	+	2	2427	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	620						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGTCCACCCAGGTCTGTCA	0.632																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1858-1860)Cag>Tag		RUN and SH3 domain containing 2							54.0	48.0	50.0					9																	35548376		2203	4300	6503	SO:0001587	stop_gained	9853					cytosol		g.chr9:35548376C>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1858C>T	9.37:g.35548376C>T	ENSP00000393922:p.Gln620*						p.Q620*	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2427	+			620					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Nonsense_Mutation	SNP	ENST00000455600.1	37	c.1858C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	39	7.406810	0.98265	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	.	.	.	5.86	3.95	0.45737	.	0.910295	0.09536	N	0.788886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-8.3386	12.4438	0.55639	0.1327:0.7398:0.1275:0.0	.	.	.	.	X	620	.	ENSP00000355177:Q620X	Q	+	1	0	RUSC2	35538376	0.953000	0.32496	0.998000	0.56505	0.900000	0.52787	1.919000	0.40015	1.470000	0.48102	0.655000	0.94253	CAG		0.632	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		8	130	0	0	0	1	0	8	130				
HIST1H2AJ	8331	broad.mit.edu	37	6	27782203	27782203	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:27782203C>T	ENST00000333151.3	-	1	404	c.316G>A	c.(316-318)Ggt>Agt	p.G106S	HIST1H2BM_ENST00000359465.4_5'Flank	NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	106						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						AGGACGCCACCCTGTGCGATG	0.537																																						ENST00000333151.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						c.(316-318)Ggt>Agt		histone cluster 1, H2aj							102.0	107.0	106.0					6																	27782203		2203	4300	6503	SO:0001583	missense	8331				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27782203C>T	Z83736	CCDS4628.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000182611	ENSG00000276368		"""Histones / Replication-dependent"""	4727	protein-coding gene	gene with protein product		602791	"""H2A histone family, member E"", ""histone 1, H2aj"""	H2AFE		9439656, 12408966	Standard	NM_021066		Approved	H2A/E	uc003njn.1	Q99878	OTTHUMG00000014486	ENST00000333151.3:c.316G>A	6.37:g.27782203C>T	ENSP00000328484:p.Gly106Ser						p.G106S	NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN			1	404	-			106					A2RUU6|Q5JXQ5	Missense_Mutation	SNP	ENST00000333151.3	37	c.316G>A	CCDS4628.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.086126	0.76642	.	.	ENSG00000182611	ENST00000333151	D	0.94650	-3.48	4.15	4.15	0.48705	Histone-fold (2);Histone H2A (2);	0.000000	0.33023	U	0.005376	D	0.97102	0.9053	M	0.84585	2.705	0.47094	D	0.999319	D	0.76494	0.999	D	0.74674	0.984	D	0.97487	1.0051	10	0.87932	D	0	.	16.6779	0.85284	0.0:1.0:0.0:0.0	.	106	Q99878	H2A1J_HUMAN	S	106	ENSP00000328484:G106S	ENSP00000328484:G106S	G	-	1	0	HIST1H2AJ	27890182	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.376000	0.79658	2.582000	0.87167	0.655000	0.94253	GGT		0.537	HIST1H2AJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040154.1	NM_021066		41	132	0	0	0	1	0	41	132				
PRAMEF11	440560	broad.mit.edu	37	1	12887400	12887400	+	Frame_Shift_Del	DEL	G	G	-	rs182233185	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:12887400delG	ENST00000535591.1	-	3	652	c.457delC	c.(457-459)cgcfs	p.R153fs		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGATATTGCGGAAGGGCATT	0.468																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(457-459)gcfs		PRAME family member 11																																				SO:0001589	frameshift_variant	440560							g.chr1:12887400delG	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.457delC	1.37:g.12887400delG	ENSP00000439551:p.Arg153fs						p.R153fs	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	652	-			153						Frame_Shift_Del	DEL	ENST00000535591.1	37	c.457delC	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		143	320						143	320	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	53						7	53	---	---	---	---
GAS5-AS1	100506046	broad.mit.edu	37	1	173833300	173833302	+	RNA	DEL	TTA	TTA	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:173833300_173833302delTTA	ENST00000602767.1	+	0	1388				GAS5_ENST00000364822.2_RNA|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000385578.2_RNA|GAS5_ENST00000363146.1_RNA|GAS5_ENST00000365524.1_RNA|GAS5_ENST00000363840.1_RNA|GAS5_ENST00000363859.1_RNA	NR_037605.1				GAS5 antisense RNA 1																		ATCAGATATTTTATTGTCATCAA	0.355																																						ENST00000363840.1																			0																																																			60674							g.chr1:173833300_173833302delTTA	AF088026		1q25.1	2013-02-15	2012-08-15		ENSG00000270084	ENSG00000270084		"""Long non-coding RNAs"""	44119	non-coding RNA	RNA, long non-coding			"""GAS5 antisense RNA 1 (non-protein coding)"""				Standard	NR_037605		Approved		uc021pfa.1		OTTHUMG00000184089		1.37:g.173833300_173833302delTTA								NR_003938.1						0	58_60	-									RNA	DEL	ENST00000602767.1	37																																																																																						0.355	GAS5-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000468012.1	NR_037605		12	85						12	85	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201751633	201751634	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:201751633_201751634insT	ENST00000367296.4	+	6	2413_2414	c.1993_1994insT	c.(1993-1995)cgtfs	p.R665fs	NAV1_ENST00000367302.1_Frame_Shift_Ins_p.R678fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.R665fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.R274fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.R665fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.R665fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	665					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCCTGGAGCCCGTTCTAACATC	0.594																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(1993-1995)ttcfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201751633_201751634insT	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	Exception_encountered	1.37:g.201751633_201751634insT	ENSP00000356265:p.Arg665fs					NAV1_ENST00000367302.1_Frame_Shift_Ins_p.F678fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.F665fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.F665fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.F274fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.F665fs	p.F665fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			6	2413_2414	+			665					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.1993_1994insT	CCDS1414.2																																																																																				0.594	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		37	163						37	163	---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203020955	203020955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:203020955delC	ENST00000447715.2	+	18	2023	c.1582delC	c.(1582-1584)cccfs	p.P529fs	PPFIA4_ENST00000414050.2_Frame_Shift_Del_p.P232fs|PPFIA4_ENST00000367240.2_Frame_Shift_Del_p.P504fs|PPFIA4_ENST00000272198.6_Frame_Shift_Del_p.P19fs|PPFIA4_ENST00000599966.1_Frame_Shift_Del_p.P19fs|PPFIA4_ENST00000295706.4_Frame_Shift_Del_p.P19fs			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	529					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CACACACGCACCCCCAGGCGT	0.632																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1507-1509)ccfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							28.0	33.0	31.0					1																	203020955		2163	4260	6423	SO:0001589	frameshift_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203020955delC	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1582delC	1.37:g.203020955delC	ENSP00000402576:p.Pro529fs					PPFIA4_ENST00000295706.4_Frame_Shift_Del_p.P19fs|PPFIA4_ENST00000447715.2_Frame_Shift_Del_p.P529fs|PPFIA4_ENST00000414050.2_Frame_Shift_Del_p.P232fs|PPFIA4_ENST00000272198.6_Frame_Shift_Del_p.P19fs|PPFIA4_ENST00000599966.1_Frame_Shift_Del_p.P19fs	p.P504fs			O75335	LIPA4_HUMAN			13	2034	+			19			SAM 2.		A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Frame_Shift_Del	DEL	ENST00000447715.2	37	c.1507delC																																																																																					0.632	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		8	54						8	54	---	---	---	---
C2orf43	60526	broad.mit.edu	37	2	20901391	20901391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:20901391delC	ENST00000237822.3	-	6	804	c.725delG	c.(724-726)ggcfs	p.G242fs	C2orf43_ENST00000435420.2_Frame_Shift_Del_p.G194fs|C2orf43_ENST00000440866.2_Frame_Shift_Del_p.A164fs|C2orf43_ENST00000541941.1_Frame_Shift_Del_p.G112fs|C2orf43_ENST00000403006.2_Frame_Shift_Del_p.G112fs|C2orf43_ENST00000381090.3_Frame_Shift_Del_p.G242fs	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	242										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTCTTGGCCCCCAAGGTA	0.323																																						ENST00000237822.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(724-726)gcfs		chromosome 2 open reading frame 43							240.0	234.0	236.0					2																	20901391		2203	4300	6503	SO:0001589	frameshift_variant	60526							g.chr2:20901391delC	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.725delG	2.37:g.20901391delC	ENSP00000237822:p.Gly242fs					C2orf43_ENST00000381090.3_Frame_Shift_Del_p.G242fs|C2orf43_ENST00000440866.2_Frame_Shift_Del_p.A164fs|C2orf43_ENST00000403006.2_Frame_Shift_Del_p.G112fs|C2orf43_ENST00000541941.1_Frame_Shift_Del_p.G112fs|C2orf43_ENST00000435420.2_Frame_Shift_Del_p.G194fs	p.G242fs	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN			6	804	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		242					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Frame_Shift_Del	DEL	ENST00000237822.3	37	c.725delG	CCDS1702.1																																																																																				0.323	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		88	178						88	178	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54163900	54163900	+	Splice_Site	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:54163900delC	ENST00000404125.1	-	6	815		c.e6+1		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGGATACTTACCCCCTCCCAT	0.343																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.e6+1		proteasome (prosome, macropain) activator subunit 4							101.0	106.0	105.0					2																	54163900		2203	4300	6503	SO:0001630	splice_region_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54163900delC	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.759+1G>-	2.37:g.54163900delC						PSME4_ENST00000421748.2_Intron		NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		6	815	-								Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Splice_Site	DEL	ENST00000404125.1	37		CCDS33197.2																																																																																				0.343	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	Intron	68	138						68	138	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			440926							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			6	13						6	13	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178096727	178096728	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:178096727_178096728insA	ENST00000397062.3	-	5	1157_1158	c.603_604insT	c.(601-606)aatattfs	p.I202fs	NFE2L2_ENST00000397063.4_Frame_Shift_Ins_p.I186fs|NFE2L2_ENST00000464747.1_Frame_Shift_Ins_p.I186fs|NFE2L2_ENST00000446151.2_Frame_Shift_Ins_p.I179fs	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	202					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCATTTTCAATATTAAGACACT	0.332			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(601-606)aattgafs		nuclear factor, erythroid 2-like 2																																				SO:0001589	frameshift_variant	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178096727_178096728insA		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.604dupT	2.37:g.178096728_178096728dupA	ENSP00000380252:p.Ile202fs	HNSCC(56;0.16)				NFE2L2_ENST00000397063.4_Frame_Shift_Ins_p.*186fs|NFE2L2_ENST00000446151.2_Frame_Shift_Ins_p.*179fs|NFE2L2_ENST00000464747.1_Frame_Shift_Ins_p.*186fs	p.*202fs	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1157_1158	-			202					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Frame_Shift_Ins	INS	ENST00000397062.3	37	c.603_604insT	CCDS42782.1																																																																																				0.332	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		38	86						38	86	---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222301311	222301311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:222301311delA	ENST00000281821.2	-	13	2195	c.2154delT	c.(2152-2154)tttfs	p.F718fs	EPHA4_ENST00000409854.1_Frame_Shift_Del_p.F718fs|EPHA4_ENST00000392071.4_Frame_Shift_Del_p.F667fs|EPHA4_ENST00000409938.1_Frame_Shift_Del_p.F718fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	718	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GAATGACTGTAAATCTGCCAT	0.418																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2152-2154)ttfs		EPH receptor A4							108.0	97.0	100.0					2																	222301311		2203	4300	6503	SO:0001589	frameshift_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301311delA	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2154delT	2.37:g.222301311delA	ENSP00000281821:p.Phe718fs					EPHA4_ENST00000409854.1_Frame_Shift_Del_p.F718fs|EPHA4_ENST00000409938.1_Frame_Shift_Del_p.F718fs|EPHA4_ENST00000392071.4_Frame_Shift_Del_p.F667fs	p.F718fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	13	2195	-		Renal(207;0.0183)	718			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Frame_Shift_Del	DEL	ENST00000281821.2	37	c.2154delT	CCDS2447.1																																																																																				0.418	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			7	80						7	80	---	---	---	---
RHOA	387	broad.mit.edu	37	3	49395674	49395679	+	IGR	DEL	GCCGCC	GCCGCC	-	rs71077799|rs56041243|rs139760138|rs17838762	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:49395674_49395679delGCCGCC	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.11_13AAA>A|GPX1_ENST00000419783.1_In_Frame_Del_p.11_13AAA>A	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.A12_A13delAA(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CACCGACTGGgccgccgccgccgccg	0.694																																						ENST00000419783.1																			1	Deletion - In frame(1)	p.A12_A13delAA(1)	breast(1)	breast(1)|large_intestine(2)|lung(1)	4						c.(31-39)gcc>gc		glutathione peroxidase 1	Glutathione(DB00143)		,	23,168,347		11,0,1,79,10,168					,	-0.2	0.0		dbSNP_123	2	116,720,1030		46,10,14,333,44,486	no	codingComplex,codingComplex	GPX1	NM_201397.1,NM_000581.2	,	57,10,15,412,54,654	A1A1,A1A2,A1R,A2A2,A2R,RR		44.8017,35.5019,42.7205	,	,		139,888,1377				SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395674_49395679delGCCGCC	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395680_49395685delGCCGCC						GPX1_ENST00000419349.1_In_Frame_Del_p.AAA11del|GPX1_ENST00000496791.1_5'UTR	p.AAA11del	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	354_359	-			11					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	In_Frame_Del	DEL	ENST00000418115.1	37	c.33_38delGGCGGC	CCDS2795.1																																																																																				0.694	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		3	4						3	4	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167034854	167034854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:167034854delG	ENST00000392766.2	-	14	1473	c.1133delC	c.(1132-1134)ccafs	p.P378fs	ZBBX_ENST00000469220.1_5'UTR|ZBBX_ENST00000392767.2_Frame_Shift_Del_p.P378fs|ZBBX_ENST00000455345.2_Frame_Shift_Del_p.P378fs|ZBBX_ENST00000392764.1_Frame_Shift_Del_p.P349fs|ZBBX_ENST00000307529.5_Frame_Shift_Del_p.P378fs	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	378						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTTCTACTGGCAATAAAAG	0.323																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1132-1134)cafs		zinc finger, B-box domain containing							172.0	159.0	163.0					3																	167034854		1859	4089	5948	SO:0001589	frameshift_variant	79740					intracellular	zinc ion binding	g.chr3:167034854delG	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1133delC	3.37:g.167034854delG	ENSP00000376519:p.Pro378fs					ZBBX_ENST00000455345.2_Frame_Shift_Del_p.P378fs|ZBBX_ENST00000392764.1_Frame_Shift_Del_p.P349fs|ZBBX_ENST00000392767.2_Frame_Shift_Del_p.P378fs|ZBBX_ENST00000469220.1_5'UTR|ZBBX_ENST00000307529.5_Frame_Shift_Del_p.P378fs	p.P378fs	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			14	1473	-			378					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Frame_Shift_Del	DEL	ENST00000392766.2	37	c.1133delC	CCDS3199.2																																																																																				0.323	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		25	140						25	140	---	---	---	---
SOX2	6657	broad.mit.edu	37	3	181430877	181430877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:181430877delG	ENST00000325404.1	+	1	1156	c.729delG	c.(727-729)gtgfs	p.V244fs	SOX2_ENST00000431565.2_Frame_Shift_Del_p.V244fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	244					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TGGGTTCGGTGGTCAAGTCCG	0.647			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															ENST00000325404.1				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"""NSCLC, oesophageal squamous carcinoma"""		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(727-729)gtfs		SRY (sex determining region Y)-box 2							72.0	58.0	63.0					3																	181430877		2203	4300	6503	SO:0001589	frameshift_variant	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430877delG	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.729delG	3.37:g.181430877delG	ENSP00000323588:p.Val244fs					SOX2_ENST00000431565.2_Frame_Shift_Del_p.V244fs	p.V244fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	1156	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		244					Q14537	Frame_Shift_Del	DEL	ENST00000325404.1	37	c.729delG	CCDS3239.1																																																																																				0.647	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		18	96						18	96	---	---	---	---
PABPC4L	132430	broad.mit.edu	37	4	135121436	135121436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:135121436delC	ENST00000421491.3	-	2	995	c.739delG	c.(739-741)gttfs	p.V247fs	PABPC4L_ENST00000529122.2_Frame_Shift_Del_p.V305fs			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	247	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						ATTTCTTCAACAGCTTTCTTG	0.443																																						ENST00000421491.3																			0				breast(1)|endometrium(2)	3						c.(739-741)ttfs		poly(A) binding protein, cytoplasmic 4-like							44.0	36.0	38.0					4																	135121436		692	1591	2283	SO:0001589	frameshift_variant	132430							g.chr4:135121436delC	AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.739delG	4.37:g.135121436delC	ENSP00000463233:p.Val247fs					PABPC4L_ENST00000529122.2_Frame_Shift_Del_p.V305fs	p.V247fs							2	995	-									Frame_Shift_Del	DEL	ENST00000421491.3	37	c.739delG																																																																																					0.443	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364399.2	NM_001114734		3	4						3	4	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638165	176638165	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:176638165delC	ENST00000439151.2	+	5	2810	c.2765delC	c.(2764-2766)acgfs	p.T922fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.T653fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.T819fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.T653fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	922					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GATAGTAAGACGAAGGAGCAG	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2764-2766)agfs		nuclear receptor binding SET domain protein 1							99.0	93.0	95.0					5																	176638165		2203	4300	6503	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638165delC	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2765delC	5.37:g.176638165delC	ENSP00000395929:p.Thr922fs	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Frame_Shift_Del_p.T819fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.T653fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.T653fs	p.T922fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2810	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	922					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.2765delC	CCDS4412.1																																																																																				0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		23	30						23	30	---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31323092	31323093	+	Splice_Site	INS	-	-	C	rs111351373|rs281864645|rs80008536|rs151341388		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:31323092_31323093insC	ENST00000412585.2	-	4	924		c.e4+1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCCCTCCTTACCCCATCTCAG	0.589									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			1	Unknown(1)	p.?(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.e4+1		major histocompatibility complex, class I, B																																				SO:0001630	splice_region_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323092_31323093insC	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.895+1->G	6.37:g.31323096_31323096dupC								NM_005514.6	NP_005505.2					4	924	-								Q29764	Splice_Site	INS	ENST00000412585.2	37		CCDS34394.1																																																																																				0.589	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	Intron	23	75						23	75	---	---	---	---
MPC1	51660	broad.mit.edu	37	6	166780350	166780351	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:166780350_166780351insC	ENST00000360961.6	-	3	225_226	c.104_105insG	c.(103-105)ggtfs	p.G35fs	MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000341756.6_Frame_Shift_Ins_p.G35fs	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1	35					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										CAATGGGAAGACCCCAGTTGGC	0.416																																						ENST00000341756.6																			0											c.(103-105)gctfs		mitochondrial pyruvate carrier 1																																				SO:0001589	frameshift_variant	51660							g.chr6:166780350_166780351insC	AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"""brain protein 44-like"""	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.105dupG	6.37:g.166780354_166780354dupC	ENSP00000354223:p.Gly35fs					MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000360961.6_Frame_Shift_Ins_p.A35fs	p.A35fs							3	225_226	-								B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Frame_Shift_Ins	INS	ENST00000360961.6	37	c.104_105insG	CCDS5293.1																																																																																				0.416	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043052.1	NM_016098		62	157						62	157	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		6	3						6	3	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107820812	107820813	+	Frame_Shift_Ins	INS	-	-	T	rs139634064		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:107820812_107820813insT	ENST00000425651.2	-	22	2704_2705	c.2705_2706insA	c.(2704-2706)aagfs	p.K902fs	NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.K886fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.K883fs|NRCAM_ENST00000379028.3_Frame_Shift_Ins_p.K902fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.K883fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.K902fs	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	902	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGTGAGGATCTTTTTCTCAAT	0.47																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(2704-2706)aatfs		neuronal cell adhesion molecule																																				SO:0001589	frameshift_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107820812_107820813insT		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2706dupA	7.37:g.107820817_107820817dupT	ENSP00000401244:p.Lys902fs					NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.N886fs|NRCAM_ENST00000425651.2_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.N883fs	p.N902fs			Q92823	NRCAM_HUMAN			25	3175_3176	-			902			Fibronectin type-III 3.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Frame_Shift_Ins	INS	ENST00000425651.2	37	c.2705_2706insA	CCDS47686.1																																																																																				0.470	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		26	58						26	58	---	---	---	---
UBE2R2	54926	broad.mit.edu	37	9	33912052	33912053	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:33912052_33912053delGA	ENST00000263228.3	+	4	644_645	c.453_454delGA	c.(451-456)tggagafs	p.R152fs	RP11-176F3.7_ENST00000414426.3_RNA	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	152					protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TCAGGAAATGGAGAGACAGTAA	0.351																																						ENST00000263228.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(451-456)tggafs		ubiquitin-conjugating enzyme E2R 2																																				SO:0001589	frameshift_variant	54926				protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity	g.chr9:33912052_33912053delGA	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.453_454delGA	9.37:g.33912056_33912057delGA	ENSP00000263228:p.Arg152fs						p.WR151fs	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)	4	644_645	+			151					D3DRL5|Q9NX64	Frame_Shift_Del	DEL	ENST00000263228.3	37	c.453_454delGA	CCDS6546.1																																																																																				0.351	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		13	337						13	337	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34256863	34256866	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:34256863_34256866delCTTA	ENST00000402558.2	-	10	2763_2766	c.2739_2742delTAAG	c.(2737-2742)agtaagfs	p.SK913fs	KIF24_ENST00000379174.3_Frame_Shift_Del_p.SK779fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.SK779fs|KIF24_ENST00000379166.2_Frame_Shift_Del_p.SK913fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	913					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCACGGGCCCCTTACTTGGGCTGC	0.529																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2737-2742)agfs		kinesin family member 24																																				SO:0001589	frameshift_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256863_34256866delCTTA	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2739_2742delTAAG	9.37:g.34256863_34256866delCTTA	ENSP00000384433:p.Ser913fs					KIF24_ENST00000379174.3_Frame_Shift_Del_p.SK779fs|KIF24_ENST00000402558.2_Frame_Shift_Del_p.SK913fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.SK779fs	p.SK913fs	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2858_2861	-			913					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Del	DEL	ENST00000402558.2	37	c.2739_2742delTAAG	CCDS6551.2																																																																																				0.529	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			32	357						32	357	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043713	35043725	+	Frame_Shift_Del	DEL	GCTATATCTAAGG	GCTATATCTAAGG	-	rs567997913	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:35043713_35043725delGCTATATCTAAGG	ENST00000312292.5	+	2	1134_1146	c.1087_1099delGCTATATCTAAGG	c.(1087-1101)gctatatctaaggacfs	p.AISKD363fs	C9orf131_ENST00000354479.5_Frame_Shift_Del_p.AISKD290fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.AISKD315fs|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	363										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGAGGACTTGCTATATCTAAGGACTTCTGGGG	0.545																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1087-1101)acfs		chromosome 9 open reading frame 131																																				SO:0001589	frameshift_variant	138724							g.chr9:35043713_35043725delGCTATATCTAAGG	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1087_1099delGCTATATCTAAGG	9.37:g.35043713_35043725delGCTATATCTAAGG	ENSP00000308279:p.Ala363fs					C9orf131_ENST00000354479.5_Frame_Shift_Del_p.AISKD290fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.AISKD315fs	p.AISKD363fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1134_1146	+	all_epithelial(49;0.22)		363					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Del	DEL	ENST00000312292.5	37	c.1087_1099delGCTATATCTAAGG	CCDS6572.2																																																																																				0.545	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		31	913						31	913	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		7	229						7	229	---	---	---	---
RASSF7	8045	broad.mit.edu	37	11	562352	562352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:562352delC	ENST00000397583.3	+	3	831	c.398delC	c.(397-399)gccfs	p.A133fs	RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000454668.2_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000431809.1_Frame_Shift_Del_p.A133fs|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000524468.1_3'UTR|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000344375.4_Frame_Shift_Del_p.A133fs	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	133	Pro-rich.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGAGCCAGCCCCCAGCCTC	0.682																																					Pancreas(184;1170 3913 7268)	ENST00000397583.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8						c.(397-399)gcfs		Ras association (RalGDS/AF-6) domain family (N-terminal) member 7							9.0	11.0	10.0					11																	562352		2169	4269	6438	SO:0001589	frameshift_variant	8045				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding	g.chr11:562352delC	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.398delC	11.37:g.562352delC	ENSP00000380713:p.Ala133fs					RASSF7_ENST00000454668.2_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000431809.1_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000397582.3_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000344375.4_Frame_Shift_Del_p.A133fs	p.A133fs	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	831	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	133			Pro-rich.		G5E9N9|Q3KP41|Q3KP42	Frame_Shift_Del	DEL	ENST00000397583.3	37	c.398delC	CCDS7702.1																																																																																				0.682	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		5	6						5	6	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118521236	118521250	+	In_Frame_Del	DEL	CCTTTCCTATTATGT	CCTTTCCTATTATGT	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:118521236_118521250delCCTTTCCTATTATGT	ENST00000361417.2	+	21	4269_4283	c.3858_3872delCCTTTCCTATTATGT	c.(3856-3873)accctttcctattatgtg>acg	p.LSYYV1287del	PHLDB1_ENST00000524713.1_In_Frame_Del_p.LSYYV430del|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_In_Frame_Del_p.LSYYV1240del|PHLDB1_ENST00000527898.1_In_Frame_Del_p.LSYYV338del	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1287	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAAGCGCACCCTTTCCTATTATGTGGGTGAGTTC	0.567																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3856-3873)acg>ac		pleckstrin homology-like domain, family B, member 1																																				SO:0001651	inframe_deletion	23187							g.chr11:118521236_118521250delCCTTTCCTATTATGT		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3858_3872delCCTTTCCTATTATGT	11.37:g.118521236_118521250delCCTTTCCTATTATGT	ENSP00000354498:p.Leu1287_Val1291del					PHLDB1_ENST00000527898.1_In_Frame_Del_p.TLSYYV337del|PHLDB1_ENST00000356063.5_In_Frame_Del_p.TLSYYV1239del|PHLDB1_ENST00000524713.1_In_Frame_Del_p.TLSYYV429del|PHLDB1_ENST00000534672.1_3'UTR	p.TLSYYV1286del	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	21	4269_4283	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1286			PH.		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	In_Frame_Del	DEL	ENST00000361417.2	37	c.3858_3872delCCTTTCCTATTATGT	CCDS8401.1																																																																																				0.567	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		30	105						30	105	---	---	---	---
FOXN4	121643	broad.mit.edu	37	12	109719222	109719222	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:109719222delG	ENST00000299162.5	-	9	1388	c.1284delC	c.(1282-1284)ttcfs	p.F428fs	FOXN4_ENST00000355216.1_Frame_Shift_Del_p.F248fs	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	428					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F428F(1)|p.F248F(1)		large_intestine(5)|lung(9)|ovary(2)	16						CCTGCAGAGCGAAGTCCATGA	0.607																																						ENST00000299162.5																			2	Substitution - coding silent(2)	p.F428F(1)|p.F248F(1)	large_intestine(2)	large_intestine(5)|lung(9)|ovary(2)	16						c.(1282-1284)ttfs		forkhead box N4							72.0	71.0	71.0					12																	109719222		2203	4300	6503	SO:0001589	frameshift_variant	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719222delG	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1284delC	12.37:g.109719222delG	ENSP00000299162:p.Phe428fs					FOXN4_ENST00000355216.1_Frame_Shift_Del_p.F248fs	p.F428fs	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			9	1388	-			428					Q6ZMR4|Q96NZ0	Frame_Shift_Del	DEL	ENST00000299162.5	37	c.1284delC	CCDS9126.2																																																																																				0.607	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		11	96						11	96	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33703941	33703942	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:33703941_33703942insA	ENST00000336934.5	-	5	988_989	c.872_873insT	c.(871-873)ttgfs	p.L291fs	STARD13_ENST00000255486.4_Frame_Shift_Ins_p.L283fs|STARD13_ENST00000399365.3_Frame_Shift_Ins_p.L173fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	291					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTCCTGCTGCAACATGGGCCC	0.559																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(871-873)tcafs		StAR-related lipid transfer (START) domain containing 13																																				SO:0001589	frameshift_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703941_33703942insA	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.873dupT	13.37:g.33703943_33703943dupA	ENSP00000338785:p.Leu291fs					STARD13_ENST00000255486.4_Frame_Shift_Ins_p.S283fs|STARD13_ENST00000399365.3_Frame_Shift_Ins_p.S173fs	p.S291fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	988_989	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	291					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Frame_Shift_Ins	INS	ENST00000336934.5	37	c.872_873insT	CCDS9348.1																																																																																				0.559	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		29	53						29	53	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25451432	25451432	+	RNA	DEL	T	T	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:25451432delT	ENST00000424208.1	+	0	2384				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAACCTTATATTGTCCTGAAG	0.498																																						ENST00000424208.1																			0																				461.0	444.0	449.0					15																	25451432		876	1991	2867			104472715							g.chr15:25451432delT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25451432delT						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-20_ENST00000365099.1_RNA		NR_003305.1						0	2384	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.498	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			193	439						193	439	---	---	---	---
COPS2	9318	broad.mit.edu	37	15	49429627	49429628	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:49429627_49429628delAA	ENST00000388901.5	-	5	452_453	c.379_380delTT	c.(379-381)ttafs	p.L128fs	COPS2_ENST00000299259.6_Frame_Shift_Del_p.L135fs|COPS2_ENST00000542928.1_Frame_Shift_Del_p.L64fs|Y_RNA_ENST00000363250.1_RNA	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	128					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTCCTGCAGTAAATCCATCTGA	0.302																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	ENST00000388901.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18						c.(379-381)afs		COP9 signalosome subunit 2																																				SO:0001589	frameshift_variant	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49429627_49429628delAA	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.379_380delTT	15.37:g.49429627_49429628delAA	ENSP00000373553:p.Leu128fs					COPS2_ENST00000299259.6_Frame_Shift_Del_p.L135fs|COPS2_ENST00000542928.1_Frame_Shift_Del_p.L64fs	p.L128fs	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	5	452_453	-		all_lung(180;0.0428)	128					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Frame_Shift_Del	DEL	ENST00000388901.5	37	c.379_380delTT	CCDS32235.1																																																																																				0.302	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		16	227						16	227	---	---	---	---
AC142381.1	0	broad.mit.edu	37	16	32063675	32063675	+	IGR	DEL	G	G	-	rs553111980	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:32063675delG	ENST00000426099.1	+	0	291				RP11-1166P10.6_ENST00000566806.1_RNA																lung(1)	1						AATCAGCTGCGGGGGGCACAC	0.527																																						ENST00000566806.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:32063675delG																													16.37:g.32063675delG														0	499	-									RNA	DEL	ENST00000426099.1	37																																																																																						0.527	AC142381.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				18	106						18	106	---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67271978	67271979	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:67271978_67271979delTG	ENST00000258201.4	-	6	847_848	c.600_601delCA	c.(598-603)cacagtfs	p.HS200fs		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	200	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATAGTGTCACTGTGGGCCACCA	0.584																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(598-603)cagtfs		formin homology 2 domain containing 1																																				SO:0001589	frameshift_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67271978_67271979delTG	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.600_601delCA	16.37:g.67271980_67271981delTG	ENSP00000258201:p.His200fs					FHOD1_ENST00000567687.1_Intron	p.HS200fs	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	6	847_848	-		Ovarian(137;0.0563)	200			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Frame_Shift_Del	DEL	ENST00000258201.4	37	c.600_601delCA	CCDS10834.1																																																																																				0.584	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			24	103						24	103	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579437	7579437	+	Frame_Shift_Del	DEL	C	C	-	rs587781307		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:7579437delC	ENST00000269305.4	-	4	439	c.250delG	c.(250-252)gccfs	p.A84fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.A84fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.A84fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	84	Interaction with WWOX.		A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A83fs*39(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A83fs*35(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGTGCAGGGGCCGCCGGTGTA	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		22	Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A83fs*39(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A83fs*35(1)	haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|breast(3)|central_nervous_system(2)|lung(2)|stomach(1)|ovary(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(250-252)ccfs	Other conserved DNA damage response genes	tumor protein p53							50.0	58.0	55.0					17																	7579437		2202	4299	6501	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579437delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.250delG	17.37:g.7579437delC	ENSP00000269305:p.Ala84fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.A84fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.A84fs	p.A84fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	382	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	84		A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).	Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.250delG	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		85	65						85	65	---	---	---	---
CCL8	6355	broad.mit.edu	37	17	32646523	32646523	+	Start_Codon_Del	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:32646523delG	ENST00000394620.1	+	0	469					NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8						calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				CCTCCAAGATGAAGGTTTCTG	0.547																																						ENST00000394620.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4								chemokine (C-C motif) ligand 8							80.0	73.0	75.0					17																	32646523		2203	4300	6503	SO:0001582	initiator_codon_variant	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32646523delG	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883		17.37:g.32646523delG								NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN			0	469	+		Ovarian(249;0.0443)|Breast(31;0.151)						A0AV77|P78388	Translation_Start_Site	DEL	ENST00000394620.1	37		CCDS11280.1																																																																																				0.547	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623		42	46						42	46	---	---	---	---
KLHL11	55175	broad.mit.edu	37	17	40011269	40011270	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:40011269_40011270insTC	ENST00000319121.3	-	2	909_910	c.849_850insGA	c.(847-852)agatacfs	p.Y284fs		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	284	BACK.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCTTCAAAGTATCTCTCTCTCT	0.401																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(847-852)agacttfs		kelch-like family member 11																																				SO:0001589	frameshift_variant	55175					extracellular region		g.chr17:40011269_40011270insTC		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.848_849dupGA	17.37:g.40011278_40011279dupTC	ENSP00000314608:p.Tyr284fs						p.L284fs	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	909_910	-		Breast(137;0.00156)	284			BACK.			Frame_Shift_Ins	INS	ENST00000319121.3	37	c.849_850insGA	CCDS11411.1																																																																																				0.401	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		42	98						42	98	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		10	127						10	127	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31325879	31325879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:31325879delC	ENST00000269197.5	+	12	6067	c.6067delC	c.(6067-6069)cccfs	p.P2028fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2028	Pro-rich.				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)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						gccaccgcctccccctccccc	0.592																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(6067-6069)ccfs		additional sex combs like 3 (Drosophila)							13.0	17.0	16.0					18																	31325879		1857	4078	5935	SO:0001589	frameshift_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325879delC	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6067delC	18.37:g.31325879delC	ENSP00000269197:p.Pro2028fs						p.P2028fs	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	6067	+			2028			Pro-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Frame_Shift_Del	DEL	ENST00000269197.5	37	c.6067delC	CCDS45847.1																																																																																				0.592	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			8	21						8	21	---	---	---	---
ELAVL1	1994	broad.mit.edu	37	19	8056655	8056656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:8056655_8056656insC	ENST00000407627.2	-	2	173_174	c.44_45insG	c.(43-45)ggtfs	p.G15fs	ELAVL1_ENST00000351593.5_Frame_Shift_Ins_p.G42fs|ELAVL1_ENST00000593807.1_Frame_Shift_Ins_p.G15fs|ELAVL1_ENST00000596459.1_Frame_Shift_Ins_p.G15fs	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	15					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCCCGATGTCACCCCTGCAGTC	0.421																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(43-45)ggafs		ELAV like RNA binding protein 1																																				SO:0001589	frameshift_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8056655_8056656insC	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.45dupG	19.37:g.8056659_8056659dupC	ENSP00000385269:p.Gly15fs					ELAVL1_ENST00000593807.1_Frame_Shift_Ins_p.G15fs|ELAVL1_ENST00000351593.5_Frame_Shift_Ins_p.G42fs|ELAVL1_ENST00000596459.1_Frame_Shift_Ins_p.G15fs	p.G15fs	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			2	173_174	-			15					B4DVB8|Q53XN6|Q9BTT1	Frame_Shift_Ins	INS	ENST00000407627.2	37	c.44_45insG	CCDS12193.1																																																																																				0.421	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		39	156						39	156	---	---	---	---
