#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
NKAPL	222698	broad.mit.edu	37	6	28227392	28227392	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:28227392C>T	ENST00000343684.3	+	1	295	c.243C>T	c.(241-243)taC>taT	p.Y81Y	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	81								p.Y81Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TCCGCAACTACGCCTTCGCGT	0.587																																						ENST00000343684.3																			1	Substitution - coding silent(1)	p.Y81Y(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(241-243)taC>taT		NFKB activating protein-like							55.0	57.0	56.0					6																	28227392		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227392C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.243C>T	6.37:g.28227392C>T							p.Y81Y	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	295	+			81					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.243C>T	CCDS34353.1																																																																																				0.587	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			39	80	0	0	0	0.804634	0	39	80				
PNLDC1	154197	broad.mit.edu	37	6	160237001	160237001	+	Splice_Site	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:160237001T>C	ENST00000610273.1	+	13	1134	c.963T>C	c.(961-963)agT>agC	p.S321S	PNLDC1_ENST00000392167.3_Splice_Site_p.S332S	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	321						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.S321S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTCCAATAGTGACTTGAATC	0.378																																						ENST00000275275.5																			1	Substitution - coding silent(1)	p.S321S(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.e13-1		poly(A)-specific ribonuclease (PARN)-like domain containing 1							88.0	86.0	87.0					6																	160237001		2203	4300	6503	SO:0001630	splice_region_variant	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160237001T>C	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.963-1T>C	6.37:g.160237001T>C						PNLDC1_ENST00000392167.3_Splice_Site_p.S332_splice	p.S321_splice	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	13	1134	+		Breast(66;0.00519)|Ovarian(120;0.123)	321					Q5TAP7|Q8N7X5	Splice_Site	SNP	ENST00000610273.1	37	c.962_splice	CCDS5271.1																																																																																				0.378	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	Silent	5	126	0	0	0	0.184627	0	5	126				
GOLM1	51280	broad.mit.edu	37	9	88650293	88650293	+	Silent	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:88650293A>G	ENST00000388712.3	-	8	1173	c.1005T>C	c.(1003-1005)gcT>gcC	p.A335A	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Silent_p.A335A	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	335					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.A335A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTTCCCCGGCAGCTTCCTGCT	0.622											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000388712.3																			1	Substitution - coding silent(1)	p.A335A(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(1003-1005)gcT>gcC		golgi membrane protein 1							56.0	64.0	61.0					9																	88650293		2203	4300	6503	SO:0001819	synonymous_variant	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88650293A>G	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1005T>C	9.37:g.88650293A>G			OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1261	GOLM1_ENST00000388711.3_Silent_p.A335A	p.A335A	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			8	1173	-			335					Q6IAF4|Q9NRB9	Silent	SNP	ENST00000388712.3	37	c.1005T>C	CCDS35054.1																																																																																				0.622	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		5	180	0	0	0	0.217242	0	5	180				
PCDHGA2	56113	broad.mit.edu	37	5	140719143	140719143	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:140719143G>A	ENST00000394576.2	+	1	605	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	202	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)	p.R202H(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCTGGACCGCGAGGAAGAG	0.592																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.R202H(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(604-606)cGc>cAc									83.0	80.0	81.0					5																	140719143		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719143G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.605G>A	5.37:g.140719143G>A	ENSP00000378077:p.Arg202His					PCDHGA1_ENST00000517417.1_Intron	p.R202H	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	605	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.605G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	14.75	2.629920	0.46944	.	.	ENSG00000081853	ENST00000394576	T	0.60040	0.22	5.26	4.4	0.53042	Cadherin (4);Cadherin-like (1);	0.000000	0.40144	U	0.001174	T	0.80037	0.4550	M	0.91038	3.17	0.31712	N	0.639376	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.85159	0.0991	10	0.59425	D	0.04	.	13.8775	0.63662	0.0746:0.0:0.9254:0.0	.	202;202	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	202	ENSP00000378077:R202H	ENSP00000378077:R202H	R	+	2	0	PCDHGA2	140699327	0.991000	0.36638	0.990000	0.47175	0.003000	0.03518	5.779000	0.68948	1.365000	0.46057	-0.140000	0.14226	CGC		0.592	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		7	129	0	0	0	0.278610	0	7	129				
S1PR2	9294	broad.mit.edu	37	19	10335297	10335297	+	Silent	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:10335297A>T	ENST00000590320.1	-	2	395	c.285T>A	c.(283-285)tcT>tcA	p.S95S	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	95					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.S95S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGCGTGACAGAGCCAGAGA	0.612																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			1	Substitution - coding silent(1)	p.S95S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(283-285)tcT>tcA		sphingosine-1-phosphate receptor 2							36.0	35.0	35.0					19																	10335297		2203	4300	6503	SO:0001819	synonymous_variant	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335297A>T	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.285T>A	19.37:g.10335297A>T							p.S95S	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN			2	395	-			95					Q86UN8	Silent	SNP	ENST00000590320.1	37	c.285T>A	CCDS12229.1																																																																																				0.612	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		9	42	0	0	0	0.411799	0	9	42				
SRD5A3	79644	broad.mit.edu	37	4	56225643	56225643	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:56225643G>A	ENST00000264228.4	+	2	580	c.352G>A	c.(352-354)Gca>Aca	p.A118T	SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	118					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	TCTCGGGGCGGCACAGTTCCA	0.522																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(352-354)Gca>Aca		steroid 5 alpha-reductase 3							127.0	115.0	119.0					4																	56225643		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56225643G>A	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.352G>A	4.37:g.56225643G>A	ENSP00000264228:p.Ala118Thr					SRD5A3_ENST00000514398.1_3'UTR	p.A118T	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		2	580	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		118					Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.352G>A	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045342	0.19748	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.36520	1.25;2.25	5.23	-3.13	0.05266	.	0.882406	0.09972	N	0.732079	T	0.16041	0.0386	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32295	-0.9912	10	0.11794	T	0.64	.	5.1451	0.14981	0.2725:0.0:0.4957:0.2318	.	118	Q9H8P0	PORED_HUMAN	T	118;93	ENSP00000264228:A118T;ENSP00000424714:A93T	ENSP00000264228:A118T	A	+	1	0	SRD5A3	55920400	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	-0.398000	0.07259	-0.491000	0.06697	0.563000	0.77884	GCA		0.522	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		4	244	0	0	0	0.150653	0	4	244				
BRPF1	7862	broad.mit.edu	37	3	9788936	9788936	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:9788936A>G	ENST00000457855.1	+	13	3559	c.3548A>G	c.(3547-3549)aAc>aGc	p.N1183S	OGG1_ENST00000302008.8_5'Flank|OGG1_ENST00000349503.5_5'Flank|OGG1_ENST00000449570.2_5'Flank|OGG1_ENST00000339511.5_5'Flank|OGG1_ENST00000302003.7_5'Flank|OGG1_ENST00000383826.5_5'Flank|OGG1_ENST00000302036.7_5'Flank|OGG1_ENST00000344629.7_5'Flank|BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S|BRPF1_ENST00000383829.2_Missense_Mutation_p.N1189S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1183					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N1189S(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGCAAGTCCAACATCCGCAAG	0.567																																						ENST00000383829.2																			1	Substitution - Missense(1)	p.N1189S(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(3565-3567)aAc>aGc		bromodomain and PHD finger containing, 1							137.0	118.0	124.0					3																	9788936		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9788936A>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3548A>G	3.37:g.9788936A>G	ENSP00000410210:p.Asn1183Ser					BRPF1_ENST00000457855.1_Missense_Mutation_p.N1183S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S|BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S	p.N1189S	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			14	3970	+	Medulloblastoma(99;0.227)		1183					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.3566A>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	7.535	0.659519	0.14645	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	N	0.12569	0.235	0.80722	D	1	D;B;B;B	0.54047	0.964;0.004;0.002;0.016	P;B;B;B	0.54544	0.755;0.002;0.001;0.002	T	0.56691	-0.7937	10	0.02654	T	1	.	16.004	0.80344	1.0:0.0:0.0:0.0	.	1088;1182;1189;1183	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	S	1088;1182;1189;1183;1183	ENSP00000402485:N1088S;ENSP00000398863:N1182S;ENSP00000373340:N1189S;ENSP00000306297:N1183S;ENSP00000410210:N1183S	ENSP00000306297:N1183S	N	+	2	0	BRPF1	9763936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.420000	0.80191	2.263000	0.75096	0.379000	0.24179	AAC		0.567	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		28	124	0	0	0	0.788014	0	28	124				
CSMD3	114788	broad.mit.edu	37	8	113657357	113657357	+	Silent	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:113657357A>T	ENST00000297405.5	-	20	3535	c.3291T>A	c.(3289-3291)gtT>gtA	p.V1097V	CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V|MIR2053_ENST00000459295.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1097	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1097V(2)|p.V1057V(1)		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						GGGTTACATCAACAGTCCATG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			3	Substitution - coding silent(3)	p.V1097V(2)|p.V1057V(1)	lung(2)|prostate(1)	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.(3289-3291)gtT>gtA		CUB and Sushi multiple domains 3							93.0	92.0	92.0					8																	113657357		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113657357A>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.3291T>A	8.37:g.113657357A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V|CSMD3_ENST00000352409.3_Silent_p.V1097V	p.V1097V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			20	3535	-			1097			CUB 6.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3291T>A	CCDS6315.1																																																																																				0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	112	0	0	0	0.150653	0	4	112				
ENGASE	64772	broad.mit.edu	37	17	77073870	77073870	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:77073870C>T	ENST00000579016.1	+	3	340	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	114						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.R114C(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTGGCGTGTCGCCAGCCCCC	0.582																																						ENST00000579016.1																			1	Substitution - Missense(1)	p.R114C(1)	prostate(1)	breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(340-342)Cgc>Tgc		endo-beta-N-acetylglucosaminidase							47.0	51.0	50.0					17																	77073870		1933	4137	6070	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073870C>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.340C>T	17.37:g.77073870C>T	ENSP00000462333:p.Arg114Cys					ENGASE_ENST00000539857.2_5'UTR	p.R114C	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			3	340	+			114					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.340C>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448936	0.26074	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.964;0.985	T	0.81077	-0.1096	9	0.87932	D	0	-10.0868	18.133	0.89608	0.0:1.0:0.0:0.0	.	114;114	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	C	114	.	ENSP00000308158:R114C	R	+	1	0	ENGASE	74585465	0.999000	0.42202	0.906000	0.35671	0.326000	0.28443	4.266000	0.58871	2.260000	0.74910	0.563000	0.77884	CGC		0.582	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		44	69	0	0	0	0.834066	0	44	69				
FAM171A1	221061	broad.mit.edu	37	10	15317865	15317865	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:15317865G>A	ENST00000378116.4	-	3	413	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	136						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S136L(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGGAATCCTGATACTATTTG	0.343																																						ENST00000378116.4																			2	Substitution - Missense(2)	p.S136L(2)	prostate(2)	breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(406-408)tCa>tTa		family with sequence similarity 171, member A1							55.0	62.0	59.0					10																	15317865		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15317865G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.407C>T	10.37:g.15317865G>A	ENSP00000367356:p.Ser136Leu						p.S136L	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			3	413	-			136					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.407C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272626	0.40194	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.33654	1.4;1.4	5.41	5.41	0.78517	.	0.139206	0.50627	D	0.000107	T	0.48150	0.1484	L	0.38953	1.18	0.80722	D	1	D	0.63046	0.992	D	0.66196	0.942	T	0.19943	-1.0290	10	0.13470	T	0.59	-13.0809	19.2008	0.93711	0.0:0.0:1.0:0.0	.	136	Q5VUB5	F1711_HUMAN	L	136;136;137;136	ENSP00000367356:S136L;ENSP00000407796:S136L	ENSP00000367354:S136L	S	-	2	0	FAM171A1	15357871	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.125000	0.94402	2.516000	0.84829	0.585000	0.79938	TCA		0.343	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		19	92	0	0	0	0.557998	0	19	92				
GH2	2689	broad.mit.edu	37	17	61958402	61958402	+	Missense_Mutation	SNP	G	G	A	rs377217606		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:61958402G>A	ENST00000423893.2	-	3	339	c.278C>T	c.(277-279)aCg>aTg	p.T93M	GH2_ENST00000456543.2_Missense_Mutation_p.T93M|GH2_ENST00000332800.7_Missense_Mutation_p.T93M|GH2_ENST00000449787.2_Missense_Mutation_p.T78M			P01242	SOM2_HUMAN	growth hormone 2	93					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T93M(6)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTTCTGCTGCGTTTTCACCCT	0.572																																						ENST00000332800.7																			6	Substitution - Missense(6)	p.T93M(6)	prostate(2)|lung(2)|breast(2)	breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(277-279)aCg>aTg		growth hormone 2		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	153.0	160.0	158.0		278,233,278,278	0.3	0.1	17		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GH2	NM_002059.3,NM_022556.2,NM_022557.2,NM_022558.2	81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	93/218,78/203,93/257,93/246	61958402	1,13005	2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61958402G>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.278C>T	17.37:g.61958402G>A	ENSP00000409294:p.Thr93Met					GH2_ENST00000449787.2_Missense_Mutation_p.T78M|GH2_ENST00000423893.2_Missense_Mutation_p.T93M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M	p.T93M	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			3	411	-			93					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.278C>T	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	g	5.894	0.349068	0.11182	0.0	1.16E-4	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.89681	-2.55;-2.55;-2.21;-2.21	2.5	0.343	0.16001	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.336814	0.31438	N	0.007657	D	0.91778	0.7399	M	0.76328	2.33	0.22424	N	0.99911	D;D;D;D;D	0.89917	1.0;1.0;0.988;1.0;1.0	D;D;P;D;D	0.97110	0.983;0.999;0.782;1.0;0.983	T	0.83275	-0.0041	10	0.62326	D	0.03	.	5.8652	0.18771	0.1254:0.1933:0.6813:0.0	.	93;78;93;93;93	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	M	93;93;93;78	ENSP00000333157:T93M;ENSP00000394122:T93M;ENSP00000409294:T93M;ENSP00000410618:T78M	ENSP00000333157:T93M	T	-	2	0	GH2	59312134	1.000000	0.71417	0.140000	0.22221	0.000000	0.00434	3.793000	0.55484	-0.021000	0.14009	-2.069000	0.00389	ACG		0.572	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		82	364	0	0	0	0.870114	0	82	364				
RALGAPB	57148	broad.mit.edu	37	20	37144919	37144919	+	Silent	SNP	G	G	A	rs146906566		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr20:37144919G>A	ENST00000262879.6	+	7	1241	c.957G>A	c.(955-957)ccG>ccA	p.P319P	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Silent_p.P319P|RALGAPB_ENST00000397042.3_Silent_p.P319P|RALGAPB_ENST00000397038.1_Silent_p.P97P|RALGAPB_ENST00000537204.1_Silent_p.P319P			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	319					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCGGAATGCCGCAAGAATTGA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		17437	0.0		0.001	False		,,,				2504	0.0					ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(955-957)ccG>ccA		Ral GTPase activating protein, beta subunit (non-catalytic)		G		2,4404	4.2+/-10.8	0,2,2201	165.0	154.0	158.0		957	-9.4	0.9	20	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RALGAPB	NM_020336.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		319/1495	37144919	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37144919G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.957G>A	20.37:g.37144919G>A						RALGAPB_ENST00000397040.1_Silent_p.P319P|RALGAPB_ENST00000397042.3_Silent_p.P319P|RALGAPB_ENST00000397038.1_Silent_p.P97P|RALGAPB_ENST00000537204.1_Silent_p.P319P	p.P319P			Q86X10	RLGPB_HUMAN			7	1241	+			319					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.957G>A	CCDS13305.1																																																																																				0.413	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		5	434	0	0	0	0.184627	0	5	434				
DMXL1	1657	broad.mit.edu	37	5	118486030	118486030	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:118486030G>A	ENST00000311085.8	+	18	4588	c.4508G>A	c.(4507-4509)cGg>cAg	p.R1503Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1503Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1503										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGACTCAGCCGGATGGAGCAG	0.448																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(4507-4509)cGg>cAg		Dmx-like 1							123.0	120.0	121.0					5																	118486030		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118486030G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4508G>A	5.37:g.118486030G>A	ENSP00000309690:p.Arg1503Gln					DMXL1_ENST00000539542.1_Missense_Mutation_p.R1503Q	p.R1503Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	4588	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1503						Missense_Mutation	SNP	ENST00000311085.8	37	c.4508G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380501	0.82792	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.46063	0.88;0.88	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	M	0.73962	2.25	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.73708	0.968;0.981	T	0.68250	-0.5458	10	0.62326	D	0.03	-14.912	19.5764	0.95446	0.0:0.0:1.0:0.0	.	1503;1503	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	1503	ENSP00000309690:R1503Q;ENSP00000439479:R1503Q	ENSP00000309690:R1503Q	R	+	2	0	DMXL1	118513929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.705000	0.92388	0.557000	0.71058	CGG		0.448	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		5	474	0	0	0	0.184627	0	5	474				
RFX6	222546	broad.mit.edu	37	6	117243256	117243256	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:117243256C>T	ENST00000332958.2	+	13	1395	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	460					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAGAAGAATGCCACTGTGGAG	0.333																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1378-1380)gCc>gTc		regulatory factor X, 6							102.0	106.0	104.0					6																	117243256		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117243256C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1379C>T	6.37:g.117243256C>T	ENSP00000332208:p.Ala460Val						p.A460V	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			13	1395	+			460					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1379C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054471	0.93793	.	.	ENSG00000185002	ENST00000332958	T	0.59364	0.27	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76526	-0.2927	10	0.87932	D	0	-13.8882	18.729	0.91728	0.0:1.0:0.0:0.0	.	460	Q8HWS3	RFX6_HUMAN	V	460	ENSP00000332208:A460V	ENSP00000332208:A460V	A	+	2	0	RFX6	117349949	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.440000	0.80464	2.434000	0.82447	0.585000	0.79938	GCC		0.333	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		4	195	0	0	0	0.217242	0	4	195				
NCOA4	8031	broad.mit.edu	37	10	51584846	51584846	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584846G>A	ENST00000443446.1	+	8	1174	c.945G>A	c.(943-945)cgG>cgA	p.R315R	NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000452682.1_Silent_p.R331R|NCOA4_ENST00000414907.2_Silent_p.R149R|NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000430396.2_Silent_p.R215R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	315					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.R331R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATAAGCTGCGGAAGCCTGAGA	0.453			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		1	Substitution - coding silent(1)	p.R331R(1)	prostate(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(991-993)cgG>cgA		nuclear receptor coactivator 4							82.0	82.0	82.0					10																	51584846		2203	4300	6503	SO:0001819	synonymous_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584846G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.945G>A	10.37:g.51584846G>A						NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000443446.1_Silent_p.R315R|NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000414907.2_Silent_p.R149R	p.R331R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1245	+			315					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	37	c.993G>A	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	0.852	-0.738392	0.03111	.	.	ENSG00000138293	ENST00000431200	.	.	.	4.64	3.74	0.42951	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56300	-0.8002	4	.	.	.	-3.2217	8.7354	0.34525	0.1002:0.0:0.8998:0.0	.	.	.	.	K	231	.	.	E	+	1	0	NCOA4	51254852	0.976000	0.34144	0.967000	0.41034	0.196000	0.23810	2.202000	0.42743	1.564000	0.49628	0.655000	0.94253	GAA		0.453	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		6	164	0	0	0	0.248553	0	6	164				
LILRA3	11026	broad.mit.edu	37	19	54803046	54803046	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:54803046G>C	ENST00000251390.3	-	4	722	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	LILRA3_ENST00000391745.1_Missense_Mutation_p.P228A|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	211	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P211A(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGATCACTGGGTAGAGACCAC	0.617																																						ENST00000391745.1																			1	Substitution - Missense(1)	p.P211A(1)	prostate(1)	NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(682-684)Ccc>Gcc		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							112.0	97.0	102.0					19																	54803046		2194	4159	6353	SO:0001583	missense	0							g.chr19:54803046G>C	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.631C>G	19.37:g.54803046G>C	ENSP00000251390:p.Pro211Ala					LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.P211A	p.P228A						GBM - Glioblastoma multiforme(193;0.105)	8	998	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.682C>G	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683467	0.29872	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00824	5.65;5.65	2.21	1.11	0.20524	Immunoglobulin-like fold (1);	0.466390	0.18344	N	0.144083	T	0.05364	0.0142	H	0.94620	3.56	0.09310	N	1	D	0.63046	0.992	P	0.60068	0.868	T	0.08764	-1.0706	10	0.62326	D	0.03	.	6.6883	0.23158	0.0:0.2983:0.7017:0.0	.	211	Q8N6C8	LIRA3_HUMAN	A	211;228	ENSP00000251390:P211A;ENSP00000375625:P228A	ENSP00000251390:P211A	P	-	1	0	LILRA3	59494858	0.019000	0.18553	0.004000	0.12327	0.009000	0.06853	0.616000	0.24344	0.487000	0.27698	0.586000	0.80456	CCC		0.617	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			4	77	0	0	0	0.150653	0	4	77				
NFE2L3	9603	broad.mit.edu	37	7	26224957	26224957	+	Missense_Mutation	SNP	A	A	T	rs548939980		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:26224957A>T	ENST00000056233.3	+	4	1898	c.1639A>T	c.(1639-1641)Atc>Ttc	p.I547F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	547					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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I547F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGCTTTGCATATCCCTTTTTC	0.413																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.I547F(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1639-1641)Atc>Ttc		nuclear factor, erythroid 2-like 3							129.0	117.0	121.0					7																	26224957		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224957A>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1639A>T	7.37:g.26224957A>T	ENSP00000056233:p.Ile547Phe						p.I547F	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1898	+			547					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1639A>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610948	0.66558	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.47177	0.85	5.23	2.61	0.31194	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.098210	0.64402	D	0.000002	T	0.68504	0.3008	M	0.89968	3.075	0.58432	D	0.999991	D	0.65815	0.995	P	0.60345	0.873	T	0.75869	-0.3165	10	0.87932	D	0	-10.989	12.1682	0.54141	0.734:0.266:0.0:0.0	.	547	Q9Y4A8	NF2L3_HUMAN	F	547;252	ENSP00000056233:I547F	ENSP00000056233:I547F	I	+	1	0	NFE2L3	26191482	0.999000	0.42202	0.544000	0.28141	0.880000	0.50808	4.145000	0.58065	0.907000	0.36646	0.482000	0.46254	ATC		0.413	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			5	268	0	0	0	0.248553	0	5	268				
EFCAB6	64800	broad.mit.edu	37	22	44022442	44022442	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr22:44022442G>A	ENST00000262726.7	-	20	2603	c.2350C>T	c.(2350-2352)Cgc>Tgc	p.R784C	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R632C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	784					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R784C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAAGGAAGCGCTCAAACTCG	0.438																																						ENST00000262726.7																			1	Substitution - Missense(1)	p.R784C(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2350-2352)Cgc>Tgc		EF-hand calcium binding domain 6							92.0	87.0	89.0					22																	44022442		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44022442G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2350C>T	22.37:g.44022442G>A	ENSP00000262726:p.Arg784Cys					EFCAB6_ENST00000396231.2_Missense_Mutation_p.R632C	p.R784C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			20	2603	-		Ovarian(80;0.0247)|all_neural(38;0.025)	784					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2350C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453510	0.63290	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08896	3.04;3.04	4.84	4.84	0.62591	EF-hand-like domain (1);	0.000000	0.64402	D	0.000004	T	0.24812	0.0602	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.00200	-1.1927	10	0.46703	T	0.11	-22.0086	14.9589	0.71141	0.0:0.0:1.0:0.0	.	632;784	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	C	632;784	ENSP00000379533:R632C;ENSP00000262726:R784C	ENSP00000262726:R784C	R	-	1	0	EFCAB6	42353775	0.642000	0.27260	0.996000	0.52242	0.556000	0.35491	4.700000	0.61803	2.497000	0.84241	0.563000	0.77884	CGC		0.438	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		30	128	0	0	0	0.729181	0	30	128				
REG1A	5967	broad.mit.edu	37	2	79349167	79349167	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:79349167C>T	ENST00000233735.1	+	4	340	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	79	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.A79A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCACCCAGGCCGAGGGTGCCT	0.527																																						ENST00000233735.1																			1	Substitution - coding silent(1)	p.A79A(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(235-237)gcC>gcT		regenerating islet-derived 1 alpha							138.0	126.0	130.0					2																	79349167		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349167C>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.237C>T	2.37:g.79349167C>T							p.A79A	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			4	340	+			79			C-type lectin.		P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.237C>T	CCDS1964.1																																																																																				0.527	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		73	115	0	0	0	0.870114	0	73	115				
RBFOX1	54715	broad.mit.edu	37	16	7657342	7657342	+	Splice_Site	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:7657342T>G	ENST00000550418.1	+	10	1664		c.e10+2		RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000340209.4_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.?(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCTATGCAGGTACAGAGTTTC	0.368																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Unknown(2)	p.?(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.e7+2		RNA binding protein, fox-1 homolog (C. elegans) 1							180.0	162.0	168.0					16																	7657342		2197	4300	6497	SO:0001630	splice_region_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7657342T>G	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.676+2T>G	16.37:g.7657342T>G						RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site				Q9NWB1	RFOX1_HUMAN			7	988	+								Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Splice_Site	SNP	ENST00000550418.1	37		CCDS55983.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960628	0.53400	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3611	0.66771	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBFOX1	7597343	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	6.608000	0.74168	2.080000	0.62538	0.454000	0.30748	.		0.368	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	Intron	31	187	0	0	0	0.779181	0	31	187				
MAGEC3	139081	broad.mit.edu	37	X	140985038	140985038	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrX:140985038C>T	ENST00000298296.1	+	7	1494	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	MAGEC3_ENST00000409007.1_Silent_p.F200F|MAGEC3_ENST00000536088.1_Silent_p.F200F|MAGEC3_ENST00000544766.1_Silent_p.F200F|MAGEC3_ENST00000443323.2_Silent_p.F120F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	498	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F498F(1)|p.F200F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGATCTTCGGGAAAGCCC	0.423																																						ENST00000298296.1																			2	Substitution - coding silent(2)	p.F498F(1)|p.F200F(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1492-1494)ttC>ttT		melanoma antigen family C, 3							134.0	131.0	132.0					X																	140985038		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985038C>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1494C>T	X.37:g.140985038C>T						MAGEC3_ENST00000536088.1_Silent_p.F200F|MAGEC3_ENST00000443323.2_Silent_p.F120F|MAGEC3_ENST00000544766.1_Silent_p.F200F|MAGEC3_ENST00000409007.1_Silent_p.F200F	p.F498F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1494	+	Acute lymphoblastic leukemia(192;6.56e-05)		498			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1494C>T	CCDS14676.1																																																																																				0.423	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		10	180	0	0	0	0.387290	0	10	180				
GSTA2	2939	broad.mit.edu	37	6	52616466	52616466	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:52616466T>A	ENST00000493422.1	-	6	610	c.455A>T	c.(454-456)aAg>aTg	p.K152M		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	152	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.K152M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	CCGGCTCAGCTTGTTGCCAAC	0.532																																						ENST00000493422.1																			1	Substitution - Missense(1)	p.K152M(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(454-456)aAg>aTg		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						155.0	136.0	142.0					6																	52616466		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616466T>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.455A>T	6.37:g.52616466T>A	ENSP00000420168:p.Lys152Met						p.K152M	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			6	610	-	Lung NSC(77;0.118)		152			GST C-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.455A>T	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	t	14.89	2.670650	0.47781	.	.	ENSG00000244067	ENST00000493422	T	0.02606	4.23	2.88	-1.36	0.09085	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.632453	0.15849	N	0.241620	T	0.06142	0.0159	M	0.91612	3.225	0.31802	N	0.628317	D	0.58970	0.984	P	0.60415	0.874	T	0.01283	-1.1396	10	0.87932	D	0	.	6.7808	0.23643	0.0:0.3384:0.0:0.6616	.	152	P09210	GSTA2_HUMAN	M	152	ENSP00000420168:K152M	ENSP00000420168:K152M	K	-	2	0	GSTA2	52724425	0.000000	0.05858	0.994000	0.49952	0.880000	0.50808	-1.530000	0.02221	-0.380000	0.07894	-0.425000	0.05940	AAG		0.532	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		63	146	0	0	0	0.870114	0	63	146				
CORIN	10699	broad.mit.edu	37	4	47667239	47667239	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:47667239G>A	ENST00000273857.4	-	11	1398	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	CORIN_ENST00000504584.1_Missense_Mutation_p.P430S|CORIN_ENST00000505909.1_Missense_Mutation_p.P430S|CORIN_ENST00000508498.1_Missense_Mutation_p.P328S|CORIN_ENST00000502252.1_Missense_Mutation_p.P400S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	467	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.P467T(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTGTTGTAGGGCAAATTCATG	0.353																																						ENST00000273857.4																			1	Substitution - Missense(1)	p.P467T(1)	lung(1)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1399-1401)Ccc>Tcc		corin, serine peptidase							89.0	88.0	89.0					4																	47667239		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47667239G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1399C>T	4.37:g.47667239G>A	ENSP00000273857:p.Pro467Ser					CORIN_ENST00000508498.1_Missense_Mutation_p.P328S|CORIN_ENST00000504584.1_Missense_Mutation_p.P430S|CORIN_ENST00000505909.1_Missense_Mutation_p.P430S|CORIN_ENST00000502252.1_Missense_Mutation_p.P400S	p.P467S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			11	1398	-			467			FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1399C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279885	0.59758	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.25	5.25	0.73442	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.62209	1.925	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;0.999;0.991;0.991	D	0.87150	0.2208	10	0.41790	T	0.15	.	19.0552	0.93062	0.0:0.0:1.0:0.0	.	430;430;400;467	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	S	467;328;400;430;430	ENSP00000273857:P467S;ENSP00000425597:P328S;ENSP00000424212:P400S;ENSP00000425401:P430S;ENSP00000423216:P430S	ENSP00000273857:P467S	P	-	1	0	CORIN	47361996	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	8.853000	0.92222	2.729000	0.93468	0.650000	0.86243	CCC		0.353	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	207	0	0	0	0.150653	0	4	207				
CNTNAP5	129684	broad.mit.edu	37	2	125521571	125521571	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:125521571G>A	ENST00000431078.1	+	16	2741	c.2377G>A	c.(2377-2379)Gtc>Atc	p.V793I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	793	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V793I(2)		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)		CTGGAACGCCGTCTCATTTTA	0.428																																						ENST00000431078.1																			2	Substitution - Missense(2)	p.V793I(2)	prostate(2)	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.(2377-2379)Gtc>Atc		contactin associated protein-like 5							128.0	121.0	123.0					2																	125521571		1867	4092	5959	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521571G>A	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.2377G>A	2.37:g.125521571G>A	ENSP00000399013:p.Val793Ile						p.V793I	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2741	+			793			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2377G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660591	0.67586	.	.	ENSG00000155052	ENST00000431078	T	0.49139	0.79	5.9	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.142139	0.31601	N	0.007361	T	0.30510	0.0767	L	0.28556	0.865	0.36018	D	0.83852	P	0.43633	0.813	B	0.25405	0.06	T	0.45086	-0.9285	10	0.37606	T	0.19	.	16.2139	0.82191	0.0:0.1324:0.8676:0.0	.	793	Q8WYK1	CNTP5_HUMAN	I	793	ENSP00000399013:V793I	ENSP00000399013:V793I	V	+	1	0	CNTNAP5	125238041	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	7.857000	0.86963	2.804000	0.96469	0.655000	0.94253	GTC		0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			69	118	0	0	0	0.870114	0	69	118				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	148	0	0	0	0.184627	0	5	148				
RASA4	10156	broad.mit.edu	37	7	102236573	102236573	+	Silent	SNP	G	G	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:102236573G>T	ENST00000262940.7	-	9	808	c.741C>A	c.(739-741)ggC>ggA	p.G247G	RASA4_ENST00000462172.1_Silent_p.G175G|RASA4_ENST00000461209.1_Silent_p.G175G|RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000449970.2_Silent_p.G247G	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	247					cellular response to calcium ion (GO:0071277)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.G247G(3)		lung(1)|prostate(1)|urinary_tract(1)	3						AGCCCAGGTTGCCCCTGGAAT	0.657																																						ENST00000262940.7																			3	Substitution - coding silent(3)	p.G247G(3)	prostate(3)	lung(1)|prostate(1)|urinary_tract(1)	3						c.(739-741)ggC>ggA		RAS p21 protein activator 4							5.0	5.0	5.0					7																	102236573		1555	2918	4473	SO:0001819	synonymous_variant	10156				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	metal ion binding|Ras GTPase activator activity	g.chr7:102236573G>T	AB011110	CCDS5725.1, CCDS47674.1	7q22-q31.1	2008-12-05			ENSG00000105808	ENSG00000105808			23181	protein-coding gene	gene with protein product		607943				11448776	Standard	NM_001079877		Approved	KIAA0538, CAPRI, GAPL	uc003vae.3	O43374	OTTHUMG00000150383	ENST00000262940.7:c.741C>A	7.37:g.102236573G>T						RASA4_ENST00000461209.1_Silent_p.G175G|RASA4_ENST00000462172.1_Silent_p.G175G|RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000449970.2_Silent_p.G247G	p.G247G	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN			9	808	-			247					O60286|Q14CQ4|Q86UW3|Q96QU0	Silent	SNP	ENST00000262940.7	37	c.741C>A	CCDS5725.1																																																																																				0.657	RASA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317900.3	NM_006989		7	21	1	0	9.70103e-10	0.361761	1.06932e-09	7	21				
SIM1	6492	broad.mit.edu	37	6	100841663	100841663	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:100841663C>T	ENST00000369208.3	-	11	2052	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SIM1_ENST00000262901.4_Missense_Mutation_p.D424N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	424	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D424N(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAGGCCTATCGGCGGGGTCC	0.597																																						ENST00000369208.3																			1	Substitution - Missense(1)	p.D424N(1)	prostate(1)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1270-1272)Gat>Aat		single-minded family bHLH transcription factor 1							53.0	51.0	52.0					6																	100841663		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841663C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1270G>A	6.37:g.100841663C>T	ENSP00000358210:p.Asp424Asn					SIM1_ENST00000262901.4_Missense_Mutation_p.D424N	p.D424N			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2052	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	424			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1270G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480019	0.84747	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.32272	1.46;1.46	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.680289	0.16276	N	0.221596	T	0.10680	0.0261	N	0.14661	0.345	0.42380	D	0.992487	B	0.34264	0.446	B	0.26693	0.072	T	0.13150	-1.0520	10	0.26408	T	0.33	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	424	P81133	SIM1_HUMAN	N	424	ENSP00000358210:D424N;ENSP00000262901:D424N	ENSP00000262901:D424N	D	-	1	0	SIM1	100948384	1.000000	0.71417	0.017000	0.16124	0.952000	0.60782	7.087000	0.76893	2.731000	0.93534	0.655000	0.94253	GAT		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		30	55	0	0	0	0.847076	0	30	55				
VAV3	10451	broad.mit.edu	37	1	108247662	108247662	+	Silent	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:108247662A>G	ENST00000370056.4	-	16	1798	c.1524T>C	c.(1522-1524)taT>taC	p.Y508Y	VAV3_ENST00000527011.1_Silent_p.Y508Y|VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	508					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|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)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.Y508Y(2)|p.Y508*(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGGAGTCTGCATAGTCTGGTC	0.403																																						ENST00000370056.4																			3	Substitution - coding silent(2)|Substitution - Nonsense(1)	p.Y508Y(2)|p.Y508*(1)	prostate(2)|lung(1)	NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(1522-1524)taT>taC		vav 3 guanine nucleotide exchange factor							100.0	88.0	92.0					1																	108247662		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108247662A>G	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1524T>C	1.37:g.108247662A>G						VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.Y508Y	p.Y508Y	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	16	1798	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	508					B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.1524T>C	CCDS785.1	.	.	.	.	.	.	.	.	.	.	A	9.297	1.052008	0.19827	.	.	ENSG00000134215	ENST00000529809;ENST00000490388	.	.	.	6.16	-3.72	0.04411	.	.	.	.	.	T	0.48259	0.1490	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56432	-0.7980	4	.	.	.	.	12.9536	0.58415	0.5862:0.0:0.4138:0.0	.	.	.	.	T	60;503	.	.	M	-	2	0	VAV3	108049185	0.346000	0.24844	0.628000	0.29241	0.992000	0.81027	-0.180000	0.09754	-0.976000	0.03542	-0.274000	0.10170	ATG		0.403	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		3	133	0	0	0	0.115264	0	3	133				
NCOA4	8031	broad.mit.edu	37	10	51584845	51584845	+	Missense_Mutation	SNP	G	G	A	rs144343467		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584845G>A	ENST00000443446.1	+	8	1173	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	NCOA4_ENST00000344348.6_Missense_Mutation_p.R315Q|NCOA4_ENST00000374082.1_Missense_Mutation_p.R315Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.R315Q|NCOA4_ENST00000452682.1_Missense_Mutation_p.R331Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.R149Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.R331Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.R215Q	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	315					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.R331Q(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CATAAGCTGCGGAAGCCTGAG	0.453			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.R331Q(1)	prostate(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(991-993)cGg>cAg		nuclear receptor coactivator 4		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	82.0	82.0	82.0		992,992,944,944,944	2.3	0.7	10	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NCOA4	NM_001145260.1,NM_001145261.1,NM_001145262.1,NM_001145263.1,NM_005437.3	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	331/651,331/631,315/615,315/615,315/615	51584845	1,13005	2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584845G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.944G>A	10.37:g.51584845G>A	ENSP00000390713:p.Arg315Gln					NCOA4_ENST00000374082.1_Missense_Mutation_p.R315Q|NCOA4_ENST00000443446.1_Missense_Mutation_p.R315Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.R331Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.R315Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.R215Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.R315Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.R149Q	p.R331Q	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1244	+			315					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.992G>A	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	3.892	-0.023768	0.07634	0.0	1.16E-4	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	4.64	2.28	0.28536	.	0.474612	0.20926	N	0.083197	T	0.09774	0.0240	N	0.08118	0	0.09310	N	0.999995	B;B;B;B	0.10296	0.003;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.27054	-1.0085	9	.	.	.	-3.2217	3.5436	0.07820	0.7001:0.0:0.106:0.1939	.	215;331;331;315	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	Q	331;331;215;315;149;315;315;315	ENSP00000405146:R331Q;ENSP00000395465:R331Q;ENSP00000393053:R215Q;ENSP00000363200:R315Q;ENSP00000411018:R149Q;ENSP00000344552:R315Q;ENSP00000363195:R315Q;ENSP00000390713:R315Q	.	R	+	2	0	NCOA4	51254851	0.632000	0.27172	0.674000	0.29902	0.103000	0.19146	0.678000	0.25277	0.499000	0.27970	-0.302000	0.09304	CGG		0.453	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		6	165	0	0	0	0.248553	0	6	165				
PLCH2	9651	broad.mit.edu	37	1	2411659	2411659	+	Missense_Mutation	SNP	G	G	T	rs370344110		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:2411659G>T	ENST00000419816.2	+	4	827	c.553G>T	c.(553-555)Ggg>Tgg	p.G185W	PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000449969.1_Missense_Mutation_p.G158W|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W			O75038	PLCH2_HUMAN	phospholipase C, eta 2	185	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G185W(1)|p.G32W(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGACAAGAACGGGGATGGCAG	0.617																																						ENST00000449969.1																			2	Substitution - Missense(2)	p.G185W(1)|p.G32W(1)	prostate(2)	central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(472-474)Ggg>Tgg		phospholipase C, eta 2							91.0	101.0	98.0					1																	2411659		2171	4266	6437	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411659G>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.553G>T	1.37:g.2411659G>T	ENSP00000389803:p.Gly185Trp					PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000419816.2_Missense_Mutation_p.G185W|PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000288766.5_Intron	p.G158W			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	4	633	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	185					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.472G>T		.	.	.	.	.	.	.	.	.	.	G	14.68	2.607795	0.46527	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.74842	-0.88;-0.88;-0.88	5.01	3.1	0.35709	EF-hand-like domain (1);	0.055410	0.64402	D	0.000001	D	0.88923	0.6569	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89566	0.3810	10	0.87932	D	0	.	10.9998	0.47598	0.0:0.1403:0.7136:0.146	.	185	O75038	PLCH2_HUMAN	W	158;185;185;32	ENSP00000397289:G158W;ENSP00000367747:G185W;ENSP00000367749:G185W	ENSP00000341313:G32W	G	+	1	0	PLCH2	2401519	1.000000	0.71417	0.998000	0.56505	0.638000	0.38207	6.394000	0.73223	0.519000	0.28406	0.561000	0.74099	GGG		0.617	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		36	100	1	0	1.49673e-21	0.819951	1.70804e-21	36	100				
P4HA2	8974	broad.mit.edu	37	5	131531126	131531126	+	Silent	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131531126C>A	ENST00000401867.1	-	14	1987	c.1419G>T	c.(1417-1419)ggG>ggT	p.G473G	P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000360568.3_Silent_p.G471G|P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000166534.4_Silent_p.G473G|P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	473	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.G473G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AAATTGCAGCCCCCAGATCAG	0.493																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			1	Substitution - coding silent(1)	p.G473G(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1417-1419)ggG>ggT		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						122.0	108.0	113.0					5																	131531126		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131531126C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1419G>T	5.37:g.131531126C>A						P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G|P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000360568.3_Silent_p.G471G|P4HA2_ENST00000166534.4_Silent_p.G473G	p.G473G			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	1987	-		all_cancers(142;0.103)|Breast(839;0.198)	473			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.1419G>T	CCDS4151.1																																																																																				0.493	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		32	79	1	0	3.3946e-10	0.812448	3.78478e-10	32	79				
NANOGP1	404635	broad.mit.edu	37	12	8051389	8051389	+	RNA	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:8051389G>A	ENST00000607111.1	+	0	609							Q8N7R0	NANG2_HUMAN	Nanog homeobox pseudogene 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A197T(1)		kidney(1)|lung(4)|prostate(1)	6						CTTGGAAGCTGCTGGGGAAGG	0.463																																						ENST00000607111.1																			1	Substitution - Missense(1)	p.A197T(1)	prostate(1)	kidney(1)|lung(4)|prostate(1)	6																																														0							g.chr12:8051389G>A	AY455283		12p13.31	2014-03-20			ENSG00000176654	ENSG00000176654		"""Homeoboxes / ANTP class : NKL subclass"""	23099	pseudogene	pseudogene						15108323, 15233988	Standard	NG_006522		Approved	NANOG2	uc001qtp.1	Q8N7R0	OTTHUMG00000166020		12.37:g.8051389G>A														0	609	+									RNA	SNP	ENST00000607111.1	37			.	.	.	.	.	.	.	.	.	.	G	7.268	0.606572	0.14002	.	.	ENSG00000176654	ENST00000530989	.	.	.	1.59	-2.0	0.07433	.	0.902741	0.09229	N	0.830878	T	0.16769	0.0403	.	.	.	0.09310	N	1	B	0.25563	0.129	B	0.18263	0.021	T	0.21008	-1.0258	8	0.23891	T	0.37	-0.3874	1.9716	0.03407	0.3797:0.0:0.3584:0.2619	.	197	E9PQ94	.	T	197	.	ENSP00000432545:A197T	A	+	1	0	NANOGP1	7942656	0.000000	0.05858	0.020000	0.16555	0.447000	0.32167	-1.475000	0.02335	-0.567000	0.06046	0.297000	0.19635	GCT		0.463	NANOGP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470953.1			90	116	0	0	0	0.870114	0	90	116				
B3GALT5	10317	broad.mit.edu	37	21	41032741	41032741	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr21:41032741G>C	ENST00000380620.4	+	5	847	c.255G>C	c.(253-255)atG>atC	p.M85I	B3GALT5_ENST00000398714.2_Missense_Mutation_p.M85I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.M85I|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.M85I			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	85			M -> T (in dbSNP:rs3746887). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.7, ECO:0000269|Ref.9}.		protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.M85I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AAGAGAGGATGGTGAAGGGAA	0.602																																						ENST00000380620.3																			2	Substitution - Missense(2)	p.M85I(2)	large_intestine(1)|prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(253-255)atG>atC		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							60.0	55.0	57.0					21																	41032741		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41032741G>C	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.255G>C	21.37:g.41032741G>C	ENSP00000369994:p.Met85Ile					B3GALT5_ENST00000398714.2_Missense_Mutation_p.M85I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.M85I|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.M85I	p.M85I			Q9Y2C3	B3GT5_HUMAN			5	847	+		Prostate(19;2.55e-06)	85		M -> T (in dbSNP:rs3746887).			A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.255G>C	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302710	0.23736	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.89	-11.8	0.00035	.	3.016860	0.01379	N	0.012860	T	0.12732	0.0309	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.30149	-0.9988	10	0.37606	T	0.19	.	0.4807	0.00547	0.2459:0.1616:0.2666:0.3259	.	85	Q9Y2C3	B3GT5_HUMAN	I	85	ENSP00000369994:M85I;ENSP00000369992:M85I;ENSP00000343318:M85I;ENSP00000381699:M85I	ENSP00000343318:M85I	M	+	3	0	B3GALT5	39954611	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.471000	0.00460	-2.712000	0.00393	-0.809000	0.03173	ATG		0.602	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		4	101	0	0	0	0.150653	0	4	101				
SPHKAP	80309	broad.mit.edu	37	2	228858269	228858269	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:228858269G>A	ENST00000392056.3	-	9	4748	c.4702C>T	c.(4702-4704)Cca>Tca	p.P1568S	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1568						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P1568S(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGAAGATGGCATGCTTTCC	0.423																																						ENST00000392056.3																			1	Substitution - Missense(1)	p.P1568S(1)	prostate(1)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4702-4704)Cca>Tca		SPHK1 interactor, AKAP domain containing							112.0	87.0	95.0					2																	228858269		1568	3582	5150	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228858269G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4702C>T	2.37:g.228858269G>A	ENSP00000375909:p.Pro1568Ser					SPHKAP_ENST00000344657.5_Intron	p.P1568S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	9	4748	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1568					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4702C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733543	0.30684	.	.	ENSG00000153820	ENST00000392056	T	0.10005	2.92	6.06	5.13	0.70059	.	0.136092	0.28815	U	0.014046	T	0.17280	0.0415	L	0.31294	0.92	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.01697	-1.1293	10	0.05959	T	0.93	.	14.3161	0.66452	0.0:0.1478:0.8522:0.0	.	1568	Q2M3C7	SPKAP_HUMAN	S	1568	ENSP00000375909:P1568S	ENSP00000375909:P1568S	P	-	1	0	SPHKAP	228566513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.736000	0.38187	2.882000	0.98803	0.655000	0.94253	CCA		0.423	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		6	14	0	0	0	0.278610	0	6	14				
TCOF1	6949	broad.mit.edu	37	5	149755319	149755319	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:149755319C>T	ENST00000504761.2	+	12	1740	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P	TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000377797.3_Silent_p.P580P|TCOF1_ENST00000439160.2_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000451292.1_Silent_p.P580P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	580					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.P580P(1)|p.P503P(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCCAAACCCACCTCCAGTC	0.587																																						ENST00000451292.1																			2	Substitution - coding silent(2)	p.P580P(1)|p.P503P(1)	prostate(2)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1738-1740)ccC>ccT		Treacher Collins-Franceschetti syndrome 1							96.0	109.0	105.0					5																	149755319		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755319C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1740C>T	5.37:g.149755319C>T						TCOF1_ENST00000377797.3_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000504761.2_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000439160.2_Silent_p.P580P	p.P580P			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1848	+		all_hematologic(541;0.224)	580					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1740C>T	CCDS54936.1																																																																																				0.587	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		51	146	0	0	0	0.870114	0	51	146				
PIWIL1	9271	broad.mit.edu	37	12	130845793	130845793	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:130845793T>G	ENST00000245255.3	+	15	2006	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	578	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				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)	p.D578E(1)		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)		TGTGTACAGATTGCCCTACCC	0.433																																						ENST00000245255.3																			1	Substitution - Missense(1)	p.D578E(1)	prostate(1)	breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1732-1734)gaT>gaG		piwi-like RNA-mediated gene silencing 1							95.0	89.0	91.0					12																	130845793		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130845793T>G	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.1734T>G	12.37:g.130845793T>G	ENSP00000245255:p.Asp578Glu						p.D578E	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)	15	2006	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		578			Piwi.|RNA-binding (By similarity).		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1734T>G	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710517	0.48517	.	.	ENSG00000125207	ENST00000245255	T	0.13657	2.57	5.43	-1.3	0.09259	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.090437	0.85682	D	0.000000	T	0.10035	0.0246	N	0.21282	0.65	0.58432	D	0.999992	B;B	0.30824	0.195;0.296	B;B	0.34931	0.065;0.192	T	0.09574	-1.0668	10	0.33141	T	0.24	-14.6971	14.6265	0.68624	0.0:0.8199:0.0:0.1801	.	578;578	Q96J94;Q96J94-2	PIWL1_HUMAN;.	E	578	ENSP00000245255:D578E	ENSP00000245255:D578E	D	+	3	2	PIWIL1	129411746	0.737000	0.28175	0.835000	0.33067	0.913000	0.54294	-0.091000	0.11146	-0.482000	0.06782	0.533000	0.62120	GAT		0.433	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			30	76	0	0	0	0.717897	0	30	76				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	114	0	0	0	0.361761	0	6	114				
PSG3	5671	broad.mit.edu	37	19	43233960	43233960	+	Missense_Mutation	SNP	G	G	A	rs372669757		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:43233960G>A	ENST00000327495.5	-	4	1142	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG3_ENST00000595140.1_Missense_Mutation_p.R320C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	320	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R320C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGGTAACTGCGGATGCCACCA	0.488													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21057	0.0		0.0	False		,,,				2504	0.0					ENST00000327495.5																			1	Substitution - Missense(1)	p.R320C(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(958-960)Cgc>Tgc		pregnancy specific beta-1-glycoprotein 3		G	CYS/ARG	1,3021		0,1,1510	174.0	155.0	162.0		958	-2.2	0.0	19		162	0,5418		0,0,2709	no	missense	PSG3	NM_021016.3	180	0,1,4219	AA,AG,GG		0.0,0.0331,0.0118	benign	320/429	43233960	1,8439	1511	2709	4220	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233960G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.958C>T	19.37:g.43233960G>A	ENSP00000332215:p.Arg320Cys					PSG3_ENST00000595140.1_Missense_Mutation_p.R320C	p.R320C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			4	1142	-		Prostate(69;0.00682)	320			Ig-like C2-type 2.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.958C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	g	9.872	1.199221	0.22121	3.31E-4	0.0	ENSG00000221826	ENST00000327495	T	0.12774	2.65	1.36	-2.18	0.07037	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14614	0.0353	M	0.80746	2.51	0.09310	N	1	B;B	0.19200	0.034;0.015	B;B	0.18561	0.009;0.022	T	0.40813	-0.9543	9	0.54805	T	0.06	.	1.8058	0.03080	0.2446:0.0:0.4374:0.318	.	298;320	Q08266;Q16557	.;PSG3_HUMAN	C	320	ENSP00000332215:R320C	ENSP00000332215:R320C	R	-	1	0	PSG3	47925800	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.929000	0.03976	-0.099000	0.12263	-0.596000	0.04108	CGC		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		7	293	0	0	0	0.248553	0	7	293				
TBC1D2	55357	broad.mit.edu	37	9	100971252	100971252	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:100971252G>A	ENST00000375064.1	-	9	1886	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.A616A|TBC1D2_ENST00000375063.1_Silent_p.A156A|TBC1D2_ENST00000342112.5_Silent_p.A398A	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	616					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.A616A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCTTGAGCTCGGCTGAGGGCA	0.667																																						ENST00000375066.5																			1	Substitution - coding silent(1)	p.A616A(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1846-1848)gcC>gcT		TBC1 domain family, member 2							58.0	63.0	61.0					9																	100971252		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100971252G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1848C>T	9.37:g.100971252G>A						TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Silent_p.A398A|TBC1D2_ENST00000375063.1_Silent_p.A156A|TBC1D2_ENST00000375064.1_Silent_p.A616A	p.A616A	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	9	1939	-		Myeloproliferative disorder(762;0.0255)	616					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.1848C>T																																																																																					0.667	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		5	147	0	0	0	0.184627	0	5	147				
OR6N2	81442	broad.mit.edu	37	1	158746645	158746645	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:158746645G>A	ENST00000339258.1	-	1	780	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTCTTTAGCCGCACATACATG	0.433																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(781-783)Cgg>Tgg		olfactory receptor, family 6, subfamily N, member 2							102.0	97.0	98.0					1																	158746645		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746645G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.781C>T	1.37:g.158746645G>A	ENSP00000344101:p.Arg261Trp						p.R261W	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	780	-	all_hematologic(112;0.0378)		261					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.781C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822416	0.32237	.	.	ENSG00000188340	ENST00000339258	T	0.37915	1.17	4.94	-2.19	0.07015	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33732	N	0.004604	T	0.44644	0.1303	M	0.72118	2.19	0.20307	N	0.999916	D	0.89917	1.0	D	0.91635	0.999	T	0.58967	-0.7542	10	0.66056	D	0.02	-8.2257	18.501	0.90880	0.0:0.0:0.1769:0.8231	.	261	Q8NGY6	OR6N2_HUMAN	W	261	ENSP00000344101:R261W	ENSP00000344101:R261W	R	-	1	2	OR6N2	157013269	0.000000	0.05858	0.168000	0.22838	0.539000	0.34962	-0.709000	0.05030	-0.609000	0.05724	-0.836000	0.03065	CGG		0.433	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			4	156	0	0	0	0.150653	0	4	156				
MT-ND2	4536	broad.mit.edu	37	M	2817	2817	+	5'Flank	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrM:2817G>A	ENST00000361453.3	+	0	0				MT-TL1_ENST00000386347.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TQ_ENST00000387372.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						ATTTCGGTTGGGGCGACCTCG	0.433																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2817G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2817G>A	Exception_encountered							NR_039705.1						0	1147	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.433	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		8	4	0	0	0	0.307466	0	8	4				
SORBS2	8470	broad.mit.edu	37	4	186545236	186545236	+	Missense_Mutation	SNP	G	G	T	rs553201967		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:186545236G>T	ENST00000284776.7	-	13	1844	c.1335C>A	c.(1333-1335)aaC>aaA	p.N445K	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.N349K|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.N545K|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.N445K|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	445					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACCCCGGGGCGTTGCGGGCTG	0.592																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1333-1335)aaC>aaA		sorbin and SH3 domain containing 2							87.0	79.0	82.0					4																	186545236		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545236G>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1335C>A	4.37:g.186545236G>T	ENSP00000284776:p.Asn445Lys					SORBS2_ENST00000284776.7_Missense_Mutation_p.N445K|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.N349K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.N545K|SORBS2_ENST00000319471.9_Intron	p.N445K			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	1898	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	445					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1335C>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812100	0.16537	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.35048	1.43;1.43;1.33;1.43	5.76	-7.16	0.01516	.	0.197767	0.50627	D	0.000103	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B;B;B	0.33583	0.418;0.36;0.242	B;B;B	0.31390	0.129;0.096;0.06	T	0.01684	-1.1296	10	0.62326	D	0.03	-4.4353	18.0877	0.89463	0.7062:0.0:0.2938:0.0	.	349;545;445	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	K	445;445;349;545	ENSP00000284776:N445K;ENSP00000411764:N445K;ENSP00000397482:N349K;ENSP00000347852:N545K	ENSP00000284776:N445K	N	-	3	2	SORBS2	186782230	0.099000	0.21834	0.050000	0.19076	0.097000	0.18754	-0.198000	0.09505	-1.622000	0.01560	0.563000	0.77884	AAC		0.592	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		4	163	1	0	0.150653	0.150653	0.157133	4	163				
TMC7	79905	broad.mit.edu	37	16	19041572	19041572	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:19041572T>C	ENST00000304381.5	+	6	868	c.738T>C	c.(736-738)ttT>ttC	p.F246F	TMC7_ENST00000421369.3_Silent_p.F136F|TMC7_ENST00000569532.1_Silent_p.F246F	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	246					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.F246F(1)		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						CTAGCCTCTTTTACGGACATT	0.507																																						ENST00000421369.3																			1	Substitution - coding silent(1)	p.F246F(1)	prostate(1)	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.(406-408)ttT>ttC		transmembrane channel-like 7							146.0	132.0	137.0					16																	19041572		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19041572T>C	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.738T>C	16.37:g.19041572T>C						TMC7_ENST00000304381.5_Silent_p.F246F|TMC7_ENST00000569532.1_Silent_p.F246F	p.F136F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			6	966	+			246					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.408T>C	CCDS10573.1																																																																																				0.507	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		7	283	0	0	0	0.307466	0	7	283				
CTSD	1509	broad.mit.edu	37	11	1776178	1776178	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr11:1776178A>G	ENST00000236671.2	-	6	917	c.785T>C	c.(784-786)cTg>cCg	p.L262P	RP11-295K3.1_ENST00000427721.1_Nonstop_Mutation_p.*133R	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	262					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGTGACATTCAGGTAGGACAG	0.622																																						ENST00000427721.1																			0											c.(397-399)Tga>Cga									110.0	97.0	102.0					11																	1776178		2202	4299	6501	SO:0001583	missense	0							g.chr11:1776178A>G	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.785T>C	11.37:g.1776178A>G	ENSP00000236671:p.Leu262Pro					CTSD_ENST00000236671.2_Missense_Mutation_p.L262P	p.*133R							3	396	-								Q6IB57	Nonstop_Mutation	SNP	ENST00000236671.2	37	c.397T>C	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.92|15.92	2.975941|2.975941	0.53720|0.53720	.|.	.|.	ENSG00000117984|ENSG00000250644	ENST00000236671;ENST00000438213|ENST00000427721	T;T|.	0.60920|.	0.15;0.24|.	4.25|4.25	-2.11|-2.11	0.07187|0.07187	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.222926|.	0.36740|.	N|.	0.002436|.	T|.	0.74726|.	0.3754|.	M|M	0.88377|0.88377	2.95|2.95	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.65815|.	0.995|.	D|.	0.70016|.	0.967|.	T|.	0.75584|.	-0.3267|.	10|.	0.72032|.	D|.	0.01|.	.|.	10.7337|10.7337	0.46111|0.46111	0.4619:0.0:0.0:0.5381|0.4619:0.0:0.0:0.5381	.|.	262|.	P07339|.	CATD_HUMAN|.	P|R	262;247|133	ENSP00000236671:L262P;ENSP00000415036:L247P|.	ENSP00000236671:L262P|.	L|X	-|-	2|1	0|0	CTSD|RP11-295K3.1	1732754|1732754	0.844000|0.844000	0.29557|0.29557	0.665000|0.665000	0.29768|0.29768	0.584000|0.584000	0.36387|0.36387	2.404000|2.404000	0.44539|0.44539	-0.472000|-0.472000	0.06881|0.06881	0.374000|0.374000	0.22700|0.22700	CTG|TGA		0.622	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		3	133	0	0	0	0.150653	0	3	133				
ANLN	54443	broad.mit.edu	37	7	36435954	36435954	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:36435954C>G	ENST00000265748.2	+	2	319	c.98C>G	c.(97-99)tCt>tGt	p.S33C	ANLN_ENST00000396068.2_Missense_Mutation_p.S33C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	33	Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.S33C(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTCCAAGGTCTATGACTCAT	0.473																																						ENST00000265748.2																			1	Substitution - Missense(1)	p.S33C(1)	prostate(1)	breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(97-99)tCt>tGt		anillin, actin binding protein							71.0	73.0	72.0					7																	36435954		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36435954C>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.98C>G	7.37:g.36435954C>G	ENSP00000265748:p.Ser33Cys					ANLN_ENST00000396068.2_Missense_Mutation_p.S33C	p.S33C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			2	319	+			33			Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.98C>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.768924	0.69878	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865;ENST00000418118	T;T;T	0.43688	0.94;0.94;3.98	5.67	4.74	0.60224	.	0.407990	0.28612	N	0.014724	T	0.57301	0.2044	M	0.65975	2.015	0.23162	N	0.998192	D;D;D	0.76494	0.998;0.999;0.998	P;P;P	0.62740	0.808;0.906;0.808	T	0.51148	-0.8742	10	0.56958	D	0.05	-16.3442	11.3455	0.49559	0.0:0.8024:0.1275:0.0701	.	33;33;33	A8K5D9;Q9NQW6-2;Q9NQW6	.;.;ANLN_HUMAN	C	33;33;11;11	ENSP00000265748:S33C;ENSP00000379380:S33C;ENSP00000404979:S11C	ENSP00000265748:S33C	S	+	2	0	ANLN	36402479	0.042000	0.20092	0.774000	0.31636	0.225000	0.24961	0.905000	0.28504	2.679000	0.91253	0.591000	0.81541	TCT		0.473	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		42	77	0	0	0	0.847076	0	42	77				
SERPINE1	5054	broad.mit.edu	37	7	100780352	100780352	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:100780352G>A	ENST00000223095.4	+	8	1315	c.1158G>A	c.(1156-1158)cgG>cgA	p.R386R	SERPINE1_ENST00000445463.2_Silent_p.R371R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	386					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R386R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTGTGGTCCGGCACAACCCCA	0.542																																						ENST00000223095.4																			1	Substitution - coding silent(1)	p.R386R(1)	kidney(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1156-1158)cgG>cgA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						134.0	114.0	120.0					7																	100780352		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100780352G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1158G>A	7.37:g.100780352G>A						SERPINE1_ENST00000445463.2_Silent_p.R371R	p.R386R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			8	1315	+	Lung NSC(181;0.136)|all_lung(186;0.182)		386					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1158G>A	CCDS5711.1																																																																																				0.542	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		4	189	0	0	0	0.184627	0	4	189				
DIDO1	11083	broad.mit.edu	37	20	61525227	61525227	+	Silent	SNP	G	G	A	rs111520535	byFrequency	TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr20:61525227G>A	ENST00000266070.4	-	12	3217	c.2892C>T	c.(2890-2892)tcC>tcT	p.S964S	DIDO1_ENST00000395335.2_Silent_p.S964S|DIDO1_ENST00000395340.1_Silent_p.S964S|DIDO1_ENST00000395343.1_Silent_p.S964S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	964					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S964S(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCCCGGCCGGACACTGTGA	0.687													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		16039	0.0		0.0	False		,,,				2504	0.0				Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			1	Substitution - coding silent(1)	p.S964S(1)	prostate(1)	NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2890-2892)tcC>tcT		death inducer-obliterator 1		G	,,,	11,4395	19.1+/-41.9	0,11,2192	56.0	56.0	56.0		2892,2892,2892,2892	-9.8	0.1	20	dbSNP_132	56	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_033081.2,NM_080797.3	,,,	0,12,6490	AA,AG,GG		0.0116,0.2497,0.0923	,,,	964/2241,964/1190,964/2241,964/1190	61525227	12,12992	2203	4299	6502	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525227G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2892C>T	20.37:g.61525227G>A						DIDO1_ENST00000395335.2_Silent_p.S964S|DIDO1_ENST00000395343.1_Silent_p.S964S|DIDO1_ENST00000395340.1_Silent_p.S964S	p.S964S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3217	-	Breast(26;5.68e-08)		964					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2892C>T	CCDS33506.1																																																																																				0.687	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	138	0	0	0	0.150653	0	4	138				
SOX17	64321	broad.mit.edu	37	8	55371662	55371662	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:55371662G>A	ENST00000297316.4	+	2	556	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	118					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.V118M(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GCGGCCCTTCGTGGAGGAGGC	0.687																																						ENST00000297316.4																			1	Substitution - Missense(1)	p.V118M(1)	prostate(1)	endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(352-354)Gtg>Atg		SRY (sex determining region Y)-box 17							19.0	18.0	18.0					8																	55371662		2187	4280	6467	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55371662G>A	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.352G>A	8.37:g.55371662G>A	ENSP00000297316:p.Val118Met						p.V118M	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	556	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	118						Missense_Mutation	SNP	ENST00000297316.4	37	c.352G>A	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888873	0.91814	.	.	ENSG00000164736	ENST00000297316	D	0.98044	-4.68	4.03	4.03	0.46877	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99441	1.0938	10	0.87932	D	0	.	16.3544	0.83230	0.0:0.0:1.0:0.0	.	118	Q9H6I2	SOX17_HUMAN	M	118	ENSP00000297316:V118M	ENSP00000297316:V118M	V	+	1	0	SOX17	55534215	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.340000	0.72973	2.087000	0.62958	0.455000	0.32223	GTG		0.687	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			4	7	0	0	0	0.217242	0	4	7				
XAF1	54739	broad.mit.edu	37	17	6673970	6673970	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:6673970T>C	ENST00000361842.3	+	6	755	c.516T>C	c.(514-516)tgT>tgC	p.C172C	XAF1_ENST00000346752.4_Silent_p.C153C|XAF1_ENST00000441631.1_Silent_p.C172C	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	172					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C172C(1)		large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGGTAAATGTTGTCCAGACT	0.348																																						ENST00000361842.3																			1	Substitution - coding silent(1)	p.C172C(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(514-516)tgT>tgC		XIAP associated factor 1							59.0	63.0	62.0					17																	6673970		2203	4300	6503	SO:0001819	synonymous_variant	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6673970T>C	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.516T>C	17.37:g.6673970T>C						XAF1_ENST00000441631.1_Silent_p.C172C|XAF1_ENST00000346752.4_Silent_p.C153C	p.C172C	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN			6	755	+			172					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Silent	SNP	ENST00000361842.3	37	c.516T>C	CCDS11080.1																																																																																				0.348	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		7	187	0	0	0	0.248553	0	7	187				
PHTF2	57157	broad.mit.edu	37	7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:77469597A>G	ENST00000248550.7	+	1	101	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000416283.2_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I9V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318																																						ENST00000416283.2																			2	Substitution - Missense(2)	p.I9V(2)	prostate(2)	endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(25-27)Ata>Gta		putative homeodomain transcription factor 2							137.0	130.0	132.0					7																	77469597		1844	4093	5937	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77469597A>G	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.25A>G	7.37:g.77469597A>G	ENSP00000248550:p.Ile9Val					PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V	p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			1	151	+			9					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.25A>G		.	.	.	.	.	.	.	.	.	.	A	9.159	1.018293	0.19355	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.69	4.55	0.56014	.	0.195634	0.44688	D	0.000422	T	0.38026	0.1025	N	0.08118	0	0.38251	D	0.941606	B;B;B;B;B;B;B	0.17465	0.0;0.0;0.022;0.002;0.0;0.0;0.019	B;B;B;B;B;B;B	0.20384	0.0;0.001;0.029;0.002;0.0;0.013;0.016	T	0.33033	-0.9884	9	0.87932	D	0	-1.0009	11.2795	0.49186	0.9281:0.0:0.0719:0.0	.	9;9;9;9;9;9;9	Q8N3S3-4;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;PHTF2_HUMAN;.;.;.;.	V	9	.	ENSP00000248550:I9V	I	+	1	0	PHTF2	77307533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.550000	0.67268	0.997000	0.38969	0.533000	0.62120	ATA		0.318	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		73	125	0	0	0	0.870114	0	73	125				
LATS2	26524	broad.mit.edu	37	13	21557700	21557700	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:21557700G>A	ENST00000382592.4	-	5	2550	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	LATS2_ENST00000542899.1_Silent_p.A715A	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.A715A(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGTCCCTCTCGGCCTTGACGT	0.532																																						ENST00000382592.4																			2	Substitution - coding silent(2)	p.A715A(2)	prostate(2)	breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(2143-2145)gcC>gcT		large tumor suppressor kinase 2							138.0	129.0	132.0					13																	21557700		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21557700G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2145C>T	13.37:g.21557700G>A						LATS2_ENST00000542899.1_Silent_p.A715A	p.A715A	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	5	2550	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	715			Protein kinase.			Silent	SNP	ENST00000382592.4	37	c.2145C>T	CCDS9294.1																																																																																				0.532	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			11	332	0	0	0	0.387290	0	11	332				
RTN4RL1	146760	broad.mit.edu	37	17	1840948	1840948	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1840948G>A	ENST00000331238.6	-	2	647	c.168C>T	c.(166-168)agC>agT	p.S56S		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1									p.S56S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGACGCGCTCGCTGTCCACGG	0.652																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			1	Substitution - coding silent(1)	p.S56S(1)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(166-168)agC>agT		reticulon 4 receptor-like 1							55.0	66.0	62.0					17																	1840948		2170	4266	6436	SO:0001819	synonymous_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840948G>A	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.168C>T	17.37:g.1840948G>A							p.S56S	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	186	-			56						Silent	SNP	ENST00000331238.6	37	c.168C>T	CCDS45569.1																																																																																				0.652	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		4	54	0	0	0	0.150653	0	4	54				
RANBP17	64901	broad.mit.edu	37	5	170395294	170395294	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:170395294T>G	ENST00000523189.1	+	14	1787	c.1623T>G	c.(1621-1623)tgT>tgG	p.C541W		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	541					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.C541W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCGATGTTGTAATGAGAAAA	0.343			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)	p.C541W(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1621-1623)tgT>tgG		RAN binding protein 17							95.0	98.0	97.0					5																	170395294		2202	4299	6501	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170395294T>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1623T>G	5.37:g.170395294T>G	ENSP00000427975:p.Cys541Trp						p.C541W	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	1787	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	541					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1623T>G	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	T	3.627	-0.076333	0.07184	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.66638	-0.22	5.37	0.267	0.15622	Armadillo-type fold (1);	0.492239	0.18208	N	0.148274	T	0.39091	0.1065	N	0.08118	0	0.24335	N	0.994983	B	0.09022	0.002	B	0.04013	0.001	T	0.21965	-1.0230	10	0.54805	T	0.06	-4.4545	4.271	0.10787	0.1491:0.3286:0.0:0.5223	.	541	Q9H2T7	RBP17_HUMAN	W	541;437	ENSP00000427975:C541W	ENSP00000373770:C541W	C	+	3	2	RANBP17	170327899	0.985000	0.35326	0.785000	0.31869	0.444000	0.32077	0.312000	0.19397	0.092000	0.17331	-0.468000	0.05107	TGT		0.343	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		17	187	0	0	0	0.500413	0	17	187				
KIF12	113220	broad.mit.edu	37	9	116858374	116858374	+	Silent	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:116858374C>A	ENST00000374118.3	-	6	675	c.438G>T	c.(436-438)ctG>ctT	p.L146L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	279	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L146L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTCAAGCATCAGCTCCCCAC	0.622																																						ENST00000374118.3																			1	Substitution - coding silent(1)	p.L146L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(436-438)ctG>ctT		kinesin family member 12							55.0	61.0	59.0					9																	116858374		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116858374C>A	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.438G>T	9.37:g.116858374C>A						KIF12_ENST00000473174.1_Intron	p.L146L	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			6	675	-			279			Kinesin-motor.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.438G>T	CCDS6801.1																																																																																				0.622	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		33	147	1	0	1.69901e-12	0.812448	1.91633e-12	33	147				
PRPF8	10594	broad.mit.edu	37	17	1559946	1559946	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1559946A>C	ENST00000572621.1	-	34	5880	c.5615T>G	c.(5614-5616)cTg>cGg	p.L1872R	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1872	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.L1872R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTTACCTCCAGTGGGTCCAG	0.552																																						ENST00000572621.1																			1	Substitution - Missense(1)	p.L1872R(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5614-5616)cTg>cGg		pre-mRNA processing factor 8							58.0	47.0	51.0					17																	1559946		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1559946A>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5615T>G	17.37:g.1559946A>C	ENSP00000460348:p.Leu1872Arg					PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R	p.L1872R			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	34	5880	-			1872			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5615T>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	26.2	4.713593	0.89112	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.86497	-2.13	5.56	5.56	0.83823	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.94932	0.8361	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96038	0.9022	10	0.87932	D	0	-12.1636	15.7141	0.77655	1.0:0.0:0.0:0.0	.	1872	Q6P2Q9	PRP8_HUMAN	R	1872;397	ENSP00000304350:L1872R	ENSP00000304350:L1872R	L	-	2	0	PRPF8	1506696	1.000000	0.71417	0.909000	0.35828	0.980000	0.70556	9.339000	0.96797	2.112000	0.64535	0.533000	0.62120	CTG		0.552	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			24	40	0	0	0	0.667858	0	24	40				
MSH6	2956	broad.mit.edu	37	2	48026269	48026269	+	Missense_Mutation	SNP	A	A	G	rs267608043		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:48026269A>G	ENST00000234420.5	+	4	1299	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G|MSH6_ENST00000540021.1_Missense_Mutation_p.R253G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	383					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.R383G(2)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGCACAGGAGGAGGCC	0.478			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		4	Substitution - Missense(2)|Whole gene deletion(2)	p.R383G(2)|p.0?(2)	haematopoietic_and_lymphoid_tissue(2)|prostate(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1147-1149)Agg>Ggg	Mismatch excision repair (MMR)	mutS homolog 6							114.0	113.0	113.0					2																	48026269		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026269A>G	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1147A>G	2.37:g.48026269A>G	ENSP00000234420:p.Arg383Gly					MSH6_ENST00000540021.1_Missense_Mutation_p.R253G|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G|FBXO11_ENST00000405808.1_Intron	p.R383G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1299	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	383					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1147A>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376248	0.24857	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.86432	-1.8;-1.86;-2.12	4.26	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	N	0.11724	0.165	0.80722	D	1	B;B;B	0.23058	0.004;0.004;0.079	B;B;B	0.24006	0.017;0.017;0.05	T	0.64407	-0.6415	10	0.27785	T	0.31	-18.3018	10.0175	0.42022	0.6722:0.3278:0.0:0.0	.	253;383;383	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	G	383;381;253;81	ENSP00000234420:R383G;ENSP00000446475:R253G;ENSP00000438580:R81G	ENSP00000234420:R383G	R	+	1	2	MSH6	47879773	0.869000	0.29996	0.951000	0.38953	0.986000	0.74619	1.820000	0.39032	0.674000	0.31244	-0.313000	0.08912	AGG		0.478	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		47	110	0	0	0	0.864702	0	47	110				
HIBADH	11112	broad.mit.edu	37	7	27565971	27565971	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:27565971G>A	ENST00000265395.2	-	8	1079	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	291					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.D291D(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			TGGTAGCAGAGTCTTGTGCCA	0.468																																						ENST00000265395.2																			1	Substitution - coding silent(1)	p.D291D(1)	prostate(1)	endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(871-873)gaC>gaT		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						93.0	76.0	82.0					7																	27565971		2203	4300	6503	SO:0001819	synonymous_variant	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27565971G>A	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.873C>T	7.37:g.27565971G>A							p.D291D	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		8	1079	-			291					Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	c.873C>T	CCDS5414.1																																																																																				0.468	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		13	45	0	0	0	0.457914	0	13	45				
TRMT10A	93587	broad.mit.edu	37	4	100477359	100477359	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:100477359C>T	ENST00000273962.3	-	5	751	c.439G>A	c.(439-441)Gga>Aga	p.G147R	TRMT10A_ENST00000394877.3_Missense_Mutation_p.G147R|TRMT10A_ENST00000394876.2_Missense_Mutation_p.G147R	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	147	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.G147R(1)									AGCTGGCCTCCGTGGCTTGTC	0.313																																						ENST00000273962.3																			1	Substitution - Missense(1)	p.G147R(1)	prostate(1)								c.(439-441)Gga>Aga		tRNA methyltransferase 10 homolog A (S. cerevisiae)							139.0	128.0	132.0					4																	100477359		2202	4299	6501	SO:0001583	missense	93587							g.chr4:100477359C>T	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.439G>A	4.37:g.100477359C>T	ENSP00000273962:p.Gly147Arg					TRMT10A_ENST00000394876.2_Missense_Mutation_p.G147R|TRMT10A_ENST00000394877.3_Missense_Mutation_p.G147R	p.G147R	NM_152292.4	NP_689505.1					5	751	-								B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.439G>A	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070430	0.93950	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	6.16	6.16	0.99307	.	0.102515	0.64402	D	0.000003	T	0.34978	0.0916	L	0.56199	1.76	0.80722	D	1	P	0.47350	0.894	P	0.45610	0.487	T	0.00701	-1.1603	10	0.31617	T	0.26	-31.3417	20.8598	0.99761	0.0:1.0:0.0:0.0	.	147	Q8TBZ6	RG9D2_HUMAN	R	147	ENSP00000378343:G147R;ENSP00000273962:G147R;ENSP00000378342:G147R;ENSP00000397551:G147R;ENSP00000423628:G147R	ENSP00000273962:G147R	G	-	1	0	RG9MTD2	100696382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.112000	0.77086	2.937000	0.99478	0.650000	0.86243	GGA		0.313	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		6	102	0	0	0	0.278610	0	6	102				
OR10G8	219869	broad.mit.edu	37	11	123900990	123900990	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr11:123900990G>A	ENST00000431524.1	+	1	694	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V221I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.V221I(1)	prostate(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(661-663)Gtc>Atc		olfactory receptor, family 10, subfamily G, member 8							171.0	148.0	156.0					11																	123900990		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900990G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.661G>A	11.37:g.123900990G>A	ENSP00000389072:p.Val221Ile						p.V221I	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	694	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	221					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.661G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.747167	0.00669	.	.	ENSG00000234560	ENST00000431524	T	0.00048	8.82	2.91	-0.148	0.13424	GPCR, rhodopsin-like superfamily (1);	0.317250	0.22424	N	0.060258	T	0.00073	0.0002	N	0.05534	-0.03	0.09310	N	1	B	0.15930	0.015	B	0.21360	0.034	T	0.16600	-1.0397	10	0.33940	T	0.23	.	3.2637	0.06858	0.4226:0.0:0.2966:0.2808	.	221	Q8NGN5	O10G8_HUMAN	I	221	ENSP00000389072:V221I	ENSP00000389072:V221I	V	+	1	0	OR10G8	123406200	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-1.743000	0.01834	-0.156000	0.11079	-1.011000	0.02470	GTC		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		11	183	0	0	0	0.387290	0	11	183				
MT-ND1	4535	broad.mit.edu	37	M	3526	3526	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrM:3526G>A	ENST00000361390.2	+	1	220	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	MT-TL1_ENST00000386347.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-CO1_ENST00000361624.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	74					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTACATCACCGCCCCGACCT	0.542																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(220-222)Gcc>Acc		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:3526G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.220G>A	M.37:g.3526G>A	ENSP00000354687:p.Ala74Thr						p.74_74insT							1	220	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.220G>A																																																																																					0.542	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		6	19	0	0	0	0.307466	0	6	19				
ADAM9	8754	broad.mit.edu	37	8	38899534	38899534	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:38899534C>A	ENST00000487273.2	+	12	1278	c.1200C>A	c.(1198-1200)aaC>aaA	p.N400K		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	400	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.N400K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGGAGGAAACTGCCTTCTTA	0.408																																						ENST00000487273.2																			1	Substitution - Missense(1)	p.N400K(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1198-1200)aaC>aaA		ADAM metallopeptidase domain 9							90.0	93.0	92.0					8																	38899534		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38899534C>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1200C>A	8.37:g.38899534C>A	ENSP00000419446:p.Asn400Lys						p.N400K	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		12	1278	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	400			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.1200C>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469829	0.26423	.	.	ENSG00000168615	ENST00000487273	T	0.61392	0.11	6.05	1.77	0.24775	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.476947	0.25558	N	0.029849	T	0.29556	0.0737	N	0.04746	-0.17	0.35723	D	0.81733	B	0.17465	0.022	B	0.25759	0.063	T	0.34601	-0.9822	10	0.02654	T	1	.	10.3124	0.43716	0.0:0.5863:0.0:0.4137	.	400	Q13443	ADAM9_HUMAN	K	400	ENSP00000419446:N400K	ENSP00000369249:N400K	N	+	3	2	ADAM9	39018691	0.880000	0.30214	1.000000	0.80357	0.989000	0.77384	0.024000	0.13555	0.451000	0.26802	-0.145000	0.13849	AAC		0.408	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			7	121	1	0	2.0095e-06	0.248553	2.19013e-06	7	121				
HMGCR	3156	broad.mit.edu	37	5	74647329	74647329	+	Missense_Mutation	SNP	G	G	A	rs146188615		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:74647329G>A	ENST00000287936.4	+	11	1426	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	HMGCR_ENST00000343975.5_Missense_Mutation_p.D424N|HMGCR_ENST00000511206.1_Missense_Mutation_p.D424N	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	424	Linker.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTCCTTACTCGATACTTCATC	0.428																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1270-1272)Gat>Aat		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						129.0	120.0	123.0					5																	74647329		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74647329G>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1270G>A	5.37:g.74647329G>A	ENSP00000287936:p.Asp424Asn					HMGCR_ENST00000511206.1_Missense_Mutation_p.D424N|HMGCR_ENST00000343975.5_Missense_Mutation_p.D424N	p.D424N	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	11	1426	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	424			Linker.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1270G>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	7.030	0.560358	0.13498	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.43294	0.95;0.95;0.95	5.88	-2.21	0.06973	.	0.812647	0.11944	N	0.514379	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B;B;B	0.23650	0.071;0.021;0.089	B;B;B	0.20955	0.016;0.016;0.032	T	0.24905	-1.0147	10	0.21014	T	0.42	0.0291	7.889	0.29667	0.3947:0.1084:0.4969:0.0	.	424;424;424	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	N	424;355;424;424	ENSP00000426745:D424N;ENSP00000287936:D424N;ENSP00000340816:D424N	ENSP00000287936:D424N	D	+	1	0	HMGCR	74683085	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.195000	0.17155	-0.290000	0.09025	-0.291000	0.09656	GAT		0.428	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			4	230	0	0	0	0.184627	0	4	230				
ZDBF2	57683	broad.mit.edu	37	2	207170939	207170939	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:207170939C>T	ENST00000374423.3	+	5	2073	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	563							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R563W(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438																																						ENST00000374423.3																			2	Substitution - Missense(2)	p.R563W(2)	prostate(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1687-1689)Cgg>Tgg		zinc finger, DBF-type containing 2							93.0	86.0	88.0					2																	207170939		1869	4110	5979	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170939C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1687C>T	2.37:g.207170939C>T	ENSP00000363545:p.Arg563Trp						p.R563W	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	2073	+			563					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1687C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004503	0.35320	.	.	ENSG00000204186	ENST00000374423	T	0.45668	0.89	4.02	-3.77	0.04346	.	1.684400	0.03907	N	0.281273	T	0.29223	0.0727	L	0.34521	1.04	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.17899	-1.0354	10	0.38643	T	0.18	.	5.6932	0.17841	0.0:0.3167:0.4149:0.2684	.	563	Q9HCK1	ZDBF2_HUMAN	W	563	ENSP00000363545:R563W	ENSP00000363545:R563W	R	+	1	2	ZDBF2	206879184	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.887000	0.01617	-0.824000	0.04295	-0.181000	0.13052	CGG		0.438	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		27	47	0	0	0	0.693898	0	27	47				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	23	0	0	0	0.217242	0	5	23				
MICAL1	64780	broad.mit.edu	37	6	109766662	109766662	+	Missense_Mutation	SNP	C	C	T	rs141002248		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:109766662C>T	ENST00000358807.3	-	21	3055	c.2744G>A	c.(2743-2745)cGc>cAc	p.R915H	MICAL1_ENST00000358577.3_Missense_Mutation_p.R829H|MICAL1_ENST00000368952.4_Missense_Mutation_p.R934H	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	915					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTTCGCACGGCGCAGCAGAGT	0.562																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2800-2802)cGc>cAc		microtubule associated monooxygenase, calponin and LIM domain containing 1		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	93.0	98.0	96.0		2486,2744	4.6	1.0	6	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MICAL1	NM_001159291.1,NM_022765.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	829/982,915/1068	109766662	1,13005	2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766662C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2744G>A	6.37:g.109766662C>T	ENSP00000351664:p.Arg915His					MICAL1_ENST00000358807.3_Missense_Mutation_p.R915H|MICAL1_ENST00000358577.3_Missense_Mutation_p.R829H	p.R934H			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	21	3091	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	915					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2801G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525829	0.85600	0.0	1.16E-4	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.59083	0.32;0.31;0.29	5.51	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.62925	0.2468	M	0.61703	1.905	0.40146	D	0.976894	D;D;D	0.89917	1.0;1.0;0.998	P;D;P	0.68039	0.877;0.955;0.738	T	0.68953	-0.5273	10	0.72032	D	0.01	.	12.3426	0.55103	0.0:0.8301:0.1699:0.0	.	934;829;915	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	H	915;934;829;439;171	ENSP00000351664:R915H;ENSP00000357948:R934H;ENSP00000351385:R829H	ENSP00000335372:R171H	R	-	2	0	MICAL1	109873355	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.928000	0.56506	1.310000	0.45006	-0.176000	0.13171	CGC		0.562	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		4	232	0	0	0	0.150653	0	4	232				
SLITRK3	22865	broad.mit.edu	37	3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:164908014T>C	ENST00000475390.1	-	2	1048	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	202					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.D202G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408										HNSCC(40;0.11)																												ENST00000475390.1																			1	Substitution - Missense(1)	p.D202G(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(604-606)gAc>gGc		SLIT and NTRK-like family, member 3							66.0	68.0	68.0					3																	164908014		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908014T>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.605A>G	3.37:g.164908014T>C	ENSP00000420091:p.Asp202Gly	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G	p.D202G			O94933	SLIK3_HUMAN			2	1048	-			202					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.605A>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677490	0.68042	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.57107	0.42;0.42	5.99	5.99	0.97316	.	0.000000	0.39834	N	0.001258	T	0.71728	0.3374	M	0.67397	2.05	0.58432	D	0.999998	D	0.69078	0.997	D	0.83275	0.996	T	0.74188	-0.3746	10	0.72032	D	0.01	-24.0302	16.4892	0.84195	0.0:0.0:0.0:1.0	.	202	O94933	SLIK3_HUMAN	G	202	ENSP00000420091:D202G;ENSP00000241274:D202G	ENSP00000241274:D202G	D	-	2	0	SLITRK3	166390708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.296000	0.77279	0.533000	0.62120	GAC		0.408	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		56	117	0	0	0	0.870114	0	56	117				
SSB	6741	broad.mit.edu	37	2	170663358	170663358	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:170663358G>T	ENST00000409333.1	+	5	656	c.409G>T	c.(409-411)Gta>Tta	p.V137L	SSB_ENST00000260956.4_Missense_Mutation_p.V137L			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	137	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.V137L(1)		endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAAAGGTCAAGTACTAAATAT	0.299																																						ENST00000409333.1																			1	Substitution - Missense(1)	p.V137L(1)	prostate(1)	endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(409-411)Gta>Tta		Sjogren syndrome antigen B (autoantigen La)							86.0	88.0	88.0					2																	170663358		2203	4298	6501	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170663358G>T		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.409G>T	2.37:g.170663358G>T	ENSP00000386636:p.Val137Leu					SSB_ENST00000260956.4_Missense_Mutation_p.V137L	p.V137L			P05455	LA_HUMAN			5	656	+			137			RRM.		Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.409G>T	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582934	0.46006	.	.	ENSG00000138385	ENST00000422006;ENST00000260956;ENST00000409005;ENST00000417292;ENST00000409333	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.43	3.61	0.41365	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.329577	0.33753	N	0.004583	T	0.22627	0.0546	L	0.60455	1.87	0.43777	D	0.996302	B;B	0.21309	0.027;0.054	B;B	0.28638	0.052;0.092	T	0.04333	-1.0959	10	0.66056	D	0.02	-13.7897	8.6743	0.34170	0.2337:0.0:0.7663:0.0	.	137;137	E9PFH8;P05455	.;LA_HUMAN	L	137;137;137;86;137	ENSP00000397029:V137L;ENSP00000260956:V137L;ENSP00000396890:V86L;ENSP00000386636:V137L	ENSP00000260956:V137L	V	+	1	0	SSB	170371604	0.825000	0.29262	1.000000	0.80357	0.995000	0.86356	1.070000	0.30653	0.758000	0.33059	0.467000	0.42956	GTA		0.299	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		5	165	1	0	0.000602214	0.184627	0.000649053	5	165				
SLC5A2	6524	broad.mit.edu	37	16	31499068	31499068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:31499068G>A	ENST00000330498.3	+	7	892	c.873G>A	c.(871-873)tgG>tgA	p.W291*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	291					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.W291*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCTGGTACTGGTGCAGCGACC	0.721																																						ENST00000330498.3																			1	Substitution - Nonsense(1)	p.W291*(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(871-873)tgG>tgA		solute carrier family 5 (sodium/glucose cotransporter), member 2							21.0	23.0	22.0					16																	31499068		2196	4297	6493	SO:0001587	stop_gained	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499068G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.873G>A	16.37:g.31499068G>A	ENSP00000327943:p.Trp291*					AC026471.6_ENST00000565137.1_RNA	p.W291*	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			7	892	+			291					A2RRD2	Nonsense_Mutation	SNP	ENST00000330498.3	37	c.873G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299086	0.95574	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9081	0.41388	0.0:0.2079:0.7921:0.0	.	.	.	.	X	291	.	ENSP00000327943:W291X	W	+	3	0	SLC5A2	31406569	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.493000	0.73658	2.136000	0.66102	0.455000	0.32223	TGG		0.721	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			10	33	0	0	0	0.361761	0	10	33				
PROM2	150696	broad.mit.edu	37	2	95944760	95944760	+	Missense_Mutation	SNP	C	C	A	rs189781710		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:95944760C>A	ENST00000317620.9	+	10	1275	c.1142C>A	c.(1141-1143)cCg>cAg	p.P381Q	PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q|PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	381					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.P381Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCCCAGCAGCCGGAAGGGGTG	0.662																																						ENST00000317620.9																			1	Substitution - Missense(1)	p.P381Q(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1141-1143)cCg>cAg		prominin 2							37.0	41.0	39.0					2																	95944760		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95944760C>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1142C>A	2.37:g.95944760C>A	ENSP00000318270:p.Pro381Gln					PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q|PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q	p.P381Q	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			10	1275	+			381					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1142C>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602306	0.46423	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.94	4.94	0.65067	.	0.412269	0.23504	N	0.047466	T	0.53786	0.1818	M	0.75447	2.3	0.34931	D	0.749399	D	0.56287	0.975	P	0.54590	0.756	T	0.60146	-0.7320	10	0.13108	T	0.6	-12.6349	14.0365	0.64649	0.0:1.0:0.0:0.0	.	381	Q8N271	PROM2_HUMAN	Q	381	ENSP00000385716:P381Q;ENSP00000318520:P381Q;ENSP00000318270:P381Q;ENSP00000442542:P381Q	ENSP00000318270:P381Q	P	+	2	0	PROM2	95308487	0.005000	0.15991	0.790000	0.31976	0.180000	0.23129	1.960000	0.40422	2.446000	0.82766	0.609000	0.83330	CCG		0.662	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		3	99	1	0	0.115264	0.115264	0.121528	3	99				
FNIP1	96459	broad.mit.edu	37	5	131034664	131034664	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131034664G>A	ENST00000510461.1	-	11	1243	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	FNIP1_ENST00000307954.8_Missense_Mutation_p.A338V|FNIP1_ENST00000511848.1_Missense_Mutation_p.A383V|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.A355V	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	383					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A383V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTCTGACTGGCATCAGCTGA	0.353																																						ENST00000307968.7																			1	Substitution - Missense(1)	p.A383V(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1063-1065)gCc>gTc		folliculin interacting protein 1							145.0	137.0	140.0					5																	131034664		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131034664G>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1148C>T	5.37:g.131034664G>A	ENSP00000421985:p.Ala383Val					FNIP1_ENST00000510461.1_Missense_Mutation_p.A383V|FNIP1_ENST00000307954.8_Missense_Mutation_p.A338V|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.A383V	p.A355V	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	10	1063	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.1064C>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384746	0.82792	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.27	5.27	0.74061	.	.	.	.	.	T	0.30792	0.0776	L	0.29908	0.895	0.58432	D	0.999999	B;P;B;B	0.39480	0.29;0.675;0.29;0.234	B;B;B;B	0.41813	0.185;0.367;0.185;0.197	T	0.05099	-1.0906	9	0.49607	T	0.09	-0.4063	19.2391	0.93875	0.0:0.0:1.0:0.0	.	383;383;355;383	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	V	355;338;143;383;383	ENSP00000309266:A355V;ENSP00000310453:A338V;ENSP00000421985:A383V;ENSP00000425619:A383V	ENSP00000310453:A338V	A	-	2	0	FNIP1	131062563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.602000	0.87976	0.650000	0.86243	GCC		0.353	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		7	239	0	0	0	0.307466	0	7	239				
FGD4	121512	broad.mit.edu	37	12	32764089	32764089	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:32764089T>C	ENST00000427716.2	+	10	1634	c.1210T>C	c.(1210-1212)Tta>Cta	p.L404L	FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000534526.2_Silent_p.L541L|FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000266482.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	404					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L404L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAAGAAACTCTTAGAGATTTA	0.353																																						ENST00000427716.2																			2	Substitution - coding silent(2)	p.L404L(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1210-1212)Tta>Cta		FYVE, RhoGEF and PH domain containing 4							89.0	94.0	92.0					12																	32764089		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32764089T>C	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1210T>C	12.37:g.32764089T>C						FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000534526.2_Silent_p.L541L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L|FGD4_ENST00000266482.3_Silent_p.L156L	p.L404L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			10	1634	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		404					Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.1210T>C	CCDS8727.1																																																																																				0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		4	196	0	0	0	0.184627	0	4	196				
ABCC4	10257	broad.mit.edu	37	13	95862980	95862980	+	Missense_Mutation	SNP	T	T	C	rs200675964		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:95862980T>C	ENST00000376887.4	-	5	701	c.587A>G	c.(586-588)aAt>aGt	p.N196S	ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	196	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)	p.N196S(3)		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)	GGACAGCAGATTGACTATCTG	0.418																																						ENST00000376887.4																			3	Substitution - Missense(3)	p.N196S(3)	prostate(3)	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.(586-588)aAt>aGt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						182.0	137.0	153.0					13																	95862980		2203	4300	6503	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.chr13:95862980T>C	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.587A>G	13.37:g.95862980T>C	ENSP00000366084:p.Asn196Ser					ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S	p.N196S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			5	701	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		196			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.587A>G	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355335	0.82243	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.85	4.85	0.62838	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.982;1.0;0.999	D;D;P;D;D	0.85130	0.974;0.997;0.899;0.997;0.98	D	0.95894	0.8909	10	0.87932	D	0	.	14.4731	0.67529	0.0:0.0:0.0:1.0	.	121;196;196;196;196	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	S	196;196;121;196	ENSP00000388657:N196S;ENSP00000366084:N196S;ENSP00000442024:N121S;ENSP00000398562:N196S	ENSP00000366084:N196S	N	-	2	0	ABCC4	94660981	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	7.385000	0.79763	1.826000	0.53198	0.460000	0.39030	AAT		0.418	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		12	86	0	0	0	0.435327	0	12	86				
TTN	7273	broad.mit.edu	37	2	179472383	179472383	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:179472383C>T	ENST00000591111.1	-	227	48333	c.48109G>A	c.(48109-48111)Gtc>Atc	p.V16037I	TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V17678I|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16037	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCTTGACAGAAACATCC	0.428																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1)	prostate(6)	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.(53032-53034)Gtc>Atc		titin							101.0	99.0	100.0					2																	179472383		1857	4091	5948	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472383C>T	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.48109G>A	2.37:g.179472383C>T	ENSP00000465570:p.Val16037Ile					TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN_ENST00000591111.1_Missense_Mutation_p.V16037I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.V17678I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	53256	-			16037			Fibronectin type-III 28.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.53032G>A		.	.	.	.	.	.	.	.	.	.	C	15.27	2.785160	0.49997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	-0.0;0.19;0.19;0.18	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66297	0.2775	N	0.05414	-0.055	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.73180	-0.4064	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	8613;8738;8805;16037	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15110;8613;8805;8738;8613	ENSP00000343764:V15110I;ENSP00000434586:V8613I;ENSP00000340554:V8805I;ENSP00000352154:V8738I	ENSP00000340554:V8805I	V	-	1	0	TTN	179180628	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.635000	0.61332	2.941000	0.99782	0.655000	0.94253	GTC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	116	0	0	0	0.870114	0	79	116				
HERC1	8925	broad.mit.edu	37	15	63978653	63978653	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:63978653G>C	ENST00000443617.2	-	34	6217	c.6130C>G	c.(6130-6132)Cta>Gta	p.L2044V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2044	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L2044V(3)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCTCCACTAGGCAACACTGA	0.473																																						ENST00000443617.2																			3	Substitution - Missense(3)	p.L2044V(3)	prostate(3)	NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6130-6132)Cta>Gta		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							178.0	180.0	179.0					15																	63978653		1957	4154	6111	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63978653G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6130C>G	15.37:g.63978653G>C	ENSP00000390158:p.Leu2044Val					RP11-317G6.1_ENST00000559303.2_RNA	p.L2044V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			34	6217	-			2044			B30.2/SPRY.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6130C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	1.034	-0.680973	0.03353	.	.	ENSG00000103657	ENST00000443617	T	0.65178	-0.14	5.5	-2.71	0.05986	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.430875	0.19926	N	0.102975	T	0.20495	0.0493	N	0.02011	-0.69	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.02654	T	1	.	2.1459	0.03787	0.2536:0.09:0.1511:0.5053	.	2044	Q15751	HERC1_HUMAN	V	2044	ENSP00000390158:L2044V	ENSP00000390158:L2044V	L	-	1	2	HERC1	61765706	0.278000	0.24230	0.867000	0.34043	0.889000	0.51656	-0.170000	0.09897	-0.298000	0.08921	-0.459000	0.05422	CTA		0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	439	0	0	0	0.307466	0	7	439				
PLCXD3	345557	broad.mit.edu	37	5	41382448	41382448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:41382448G>A	ENST00000377801.3	-	2	366	c.292C>T	c.(292-294)Cga>Tga	p.R98*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.R98*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	98	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.R98*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGGAAATTCGAAGATCAAAA	0.443																																						ENST00000377801.3																			1	Substitution - Nonsense(1)	p.R98*(1)	prostate(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(292-294)Cga>Tga		phosphatidylinositol-specific phospholipase C, X domain containing 3							73.0	77.0	76.0					5																	41382448		2203	4300	6503	SO:0001587	stop_gained	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382448G>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.292C>T	5.37:g.41382448G>A	ENSP00000367032:p.Arg98*					PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.R98*	p.R98*			Q63HM9	PLCX3_HUMAN			2	366	-			98			PI-PLC X-box.		A6NL04	Nonsense_Mutation	SNP	ENST00000377801.3	37	c.292C>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	37	5.983984	0.97173	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4392	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	98	.	ENSP00000333751:R98X	R	-	1	2	PLCXD3	41418205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.026000	0.70873	2.885000	0.99019	0.655000	0.94253	CGA		0.443	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		6	186	0	0	0	0.217242	0	6	186				
MTMR4	9110	broad.mit.edu	37	17	56582201	56582201	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:56582201C>T	ENST00000323456.5	-	12	1362	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	413	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCGGTGTGCGGTCCCAGCC	0.532																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(1237-1239)cGc>cAc		myotubularin related protein 4							131.0	124.0	127.0					17																	56582201		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56582201C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1238G>A	17.37:g.56582201C>T	ENSP00000325285:p.Arg413His					MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H	p.R413H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			12	1362	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		413			Myotubularin phosphatase.|Substrate binding (By similarity).		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1238G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211568	0.95069	.	.	ENSG00000108389	ENST00000323456	D	0.91740	-2.9	5.58	4.61	0.57282	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.050255	0.85682	N	0.000000	D	0.97892	0.9307	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98781	1.0732	10	0.87932	D	0	.	13.7194	0.62717	0.0:0.9259:0.0:0.0741	.	413	Q9NYA4	MTMR4_HUMAN	H	413	ENSP00000325285:R413H	ENSP00000325285:R413H	R	-	2	0	MTMR4	53937200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.503000	0.48686	0.591000	0.81541	CGC		0.532	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		4	221	0	0	0	0.184627	0	4	221				
MUC17	140453	broad.mit.edu	37	7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	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)	p.P2683S(1)		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)					TAGCAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2683S(1)	urinary_tract(1)	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.(8047-8049)Cca>Tca		mucin 17, cell surface associated							225.0	230.0	228.0					7																	100682744		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682744C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8047C>T	7.37:g.100682744C>T	ENSP00000302716:p.Pro2683Ser						p.P2683S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8111	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2683			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8047C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.606	0.112671	0.08831	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04880	-0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25745	-1.0123	9	0.08599	T	0.76	.	0.3885	0.00406	0.2439:0.3108:0.2431:0.2021	.	2683	Q685J3	MUC17_HUMAN	S	2683	ENSP00000302716:P2683S	ENSP00000302716:P2683S	P	+	1	0	MUC17	100469464	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.262000	0.01175	-0.688000	0.05155	0.134000	0.15878	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	490	0	0	0	0.217242	0	5	490				
CROCC	9696	broad.mit.edu	37	1	17185383	17185384	+	lincRNA	INS	-	-	C	rs112074527		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:17185383_17185384insC	ENST00000414128.1	+	0	646				MIR3675_ENST00000583661.1_RNA																							ACTAAATTTTTAGTGCAATAAT	0.465																																						ENST00000414128.1																			0																																																			0							g.chr1:17185383_17185384insC																													1.37:g.17185383_17185384insC														0	646	+									RNA	INS	ENST00000414128.1	37																																																																																						0.465	RP11-108M9.2-001	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000006253.1			3	3						3	3	---	---	---	---
PKN2	5586	broad.mit.edu	37	1	89206847	89206848	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:89206847_89206848insA	ENST00000370521.3	+	2	584_585	c.225_226insA	c.(226-228)aaafs	p.K76fs	PKN2_ENST00000370513.5_Frame_Shift_Ins_p.K76fs|PKN2_ENST00000316005.7_Frame_Shift_Ins_p.K76fs|PKN2_ENST00000370505.3_Intron	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	76					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCACAACAGATAAAAAAAGTTT	0.307																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(223-228)gaaaaafs		protein kinase N2																																				SO:0001589	frameshift_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89206847_89206848insA	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.232dupA	1.37:g.89206854_89206854dupA	ENSP00000359552:p.Lys76fs					PKN2_ENST00000316005.7_Frame_Shift_Ins_p.EK75fs|PKN2_ENST00000370513.5_Frame_Shift_Ins_p.EK75fs|PKN2_ENST00000370505.3_Intron	p.EK75fs	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	2	584_585	+		Lung NSC(277;0.123)	75					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Frame_Shift_Ins	INS	ENST00000370521.3	37	c.225_226insA	CCDS714.1																																																																																				0.307	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		40	75						40	75	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			0							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	4						3	4	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128577790	128577791	+	Splice_Site	INS	-	-	GT			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:128577790_128577791insGT	ENST00000335251.6	+	3	785_786		c.e3-1		INTU_ENST00000296461.5_Splice_Site	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein						cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTGGTTTCAGGTGATGTCCTT	0.366																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.e3-1		inturned planar cell polarity protein																																				SO:0001630	splice_region_variant	27152							g.chr4:128577790_128577791insGT	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.683-1->GT	4.37:g.128577791_128577792dupGT						INTU_ENST00000296461.5_Splice_Site		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			3	785_786	+								A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Splice_Site	INS	ENST00000335251.6	37		CCDS34061.1																																																																																				0.366	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	Intron	58	113						58	113	---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111754715	111754716	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:111754715_111754716delGA	ENST00000261486.5	-	1	297_298	c.21_22delTC	c.(19-24)gttccgfs	p.P8fs	EPB41L4A-AS2_ENST00000600409.1_5'Flank	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	8						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)		AATTCTTCCGGAACAGCGCAGA	0.594																																						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.(19-24)gtcgfs		erythrocyte membrane protein band 4.1 like 4A																																				SO:0001589	frameshift_variant	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111754715_111754716delGA	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.21_22delTC	5.37:g.111754715_111754716delGA	ENSP00000261486:p.Pro8fs						p.VP7fs	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)	1	297_298	-		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)	7					A4FUI6	Frame_Shift_Del	DEL	ENST00000261486.5	37	c.21_22delTC	CCDS43350.1																																																																																				0.594	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			17	62						17	62	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72662348	72662349	+	RNA	INS	-	-	A	rs371713998		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:72662348_72662349insA	ENST00000425256.1	-	0	1007									GTF2I repeat domain containing 2 pseudogene 1																		actctgtctccaaaaaaaaaaa	0.48																																						ENST00000425256.1																			0																																																			0							g.chr7:72662348_72662349insA	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72662359_72662359dupA								NR_002164.1						0	1007	-									RNA	INS	ENST00000425256.1	37																																																																																						0.480	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	4						3	4	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67488452	67488453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:67488452_67488453insT	ENST00000522677.3	-	10	1669_1670	c.1259_1260insA	c.(1258-1260)aacfs	p.N420fs	MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1258-1260)aacfs		v-myb avian myeloblastosis viral oncogene homolog-like 1																																				SO:0001589	frameshift_variant	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67488452_67488453insT	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1260dupA	8.37:g.67488460_67488460dupT	ENSP00000429633:p.Asn420fs					MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs|MYBL1_ENST00000517885.1_Intron	p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		10	1669_1670	-			420			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Frame_Shift_Ins	INS	ENST00000522677.3	37	c.1259_1260insA	CCDS47867.1																																																																																				0.406	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		7	458						7	458	---	---	---	---
LOC101928381	101928381	broad.mit.edu	37	9	70117457	70117458	+	RNA	INS	-	-	G	rs371570854|rs201517130|rs200463739		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:70117457_70117458insG	ENST00000588215.1	-	0	82																											aagaaagaaaaaGAGAGAGAGA	0.465																																						ENST00000588215.1																			0																																																			0							g.chr9:70117457_70117458insG																													9.37:g.70117457_70117458insG														0	82	-									RNA	INS	ENST00000588215.1	37																																																																																						0.465	RP11-15J10.8-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453138.1			3	6						3	6	---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63525655	63525656	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr11:63525655_63525656insA	ENST00000377819.5	+	9	3235_3236	c.3081_3082insA	c.(3082-3084)aaafs	p.K1028fs	C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000537981.1_Frame_Shift_Ins_p.K232fs|RTN3_ENST00000356000.3_Frame_Shift_Ins_p.K251fs|RTN3_ENST00000540798.1_Frame_Shift_Ins_p.K916fs|RTN3_ENST00000341307.2_Frame_Shift_Ins_p.Q212fs|RTN3_ENST00000354497.4_Frame_Shift_Ins_p.PK146fs|RTN3_ENST00000339997.4_Frame_Shift_Ins_p.K1009fs	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	1028	Interaction with FADD.|Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CTGGAATCGCCAAAAAAAAGGC	0.337																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(3079-3084)gcaaaafs		reticulon 3																																				SO:0001589	frameshift_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63525655_63525656insA	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.3089dupA	11.37:g.63525663_63525663dupA	ENSP00000367050:p.Lys1028fs					RTN3_ENST00000540798.1_Frame_Shift_Ins_p.AK915fs|RTN3_ENST00000354497.4_Frame_Shift_Ins_p.Q146fs|RTN3_ENST00000339997.4_Frame_Shift_Ins_p.AK1008fs|RTN3_ENST00000341307.2_Frame_Shift_Ins_p.K212fs|RTN3_ENST00000537981.1_Frame_Shift_Ins_p.AK231fs|RTN3_ENST00000356000.3_Frame_Shift_Ins_p.AK250fs	p.AK1027fs	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			9	3235_3236	+			1027			Interaction with FADD.|Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Ins	INS	ENST00000377819.5	37	c.3081_3082insA	CCDS58141.1																																																																																				0.337	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		7	118						7	118	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28387490	28387490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:28387490delC	ENST00000261609.7	-	76	11702	c.11594delG	c.(11593-11595)tgtfs	p.C3865fs		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)		CGTCTCGGCACAGCAAGGCAG	0.547																																						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.(11593-11595)ttfs		HECT and RLD domain containing E3 ubiquitin protein ligase 2							40.0	34.0	36.0					15																	28387490		2203	4297	6500	SO:0001589	frameshift_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.chr15:28387490delC	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.11594delG	15.37:g.28387490delC	ENSP00000261609:p.Cys3865fs						p.C3865fs	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)	76	11702	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3865						Frame_Shift_Del	DEL	ENST00000261609.7	37	c.11594delG	CCDS10021.1																																																																																				0.547	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	51						8	51	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30732660	30732666	+	Frame_Shift_Del	DEL	CAGGCTA	CAGGCTA	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:30732660_30732666delCAGGCTA	ENST00000262518.4	+	21	3789_3795	c.3404_3410delCAGGCTA	c.(3403-3411)ccaggctacfs	p.PGY1135fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1135	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACAGTGCCACCAGGCTACACCTTCCCT	0.623																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3403-3411)ccfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732660_30732666delCAGGCTA	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3404_3410delCAGGCTA	16.37:g.30732660_30732666delCAGGCTA	ENSP00000262518:p.Pro1135fs					SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs|SRCAP_ENST00000344771.4_Intron	p.PGY1135fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3789_3795	+			1135			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	c.3404_3410delCAGGCTA	CCDS10689.2																																																																																				0.623	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	202						10	202	---	---	---	---
CTD-2377D24.8	0	broad.mit.edu	37	17	46768361	46768363	+	lincRNA	DEL	ATT	ATT	-	rs138969556		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:46768361_46768363delATT	ENST00000575202.1	+	0	51																											atttttTGaaattattattatta	0.429																																						ENST00000575202.1																			0																																																			0							g.chr17:46768361_46768363delATT																													17.37:g.46768370_46768372delATT														0	51	+									RNA	DEL	ENST00000575202.1	37																																																																																						0.429	CTD-2377D24.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000440736.1			2	4						2	4	---	---	---	---
C19orf53	28974	broad.mit.edu	37	19	13888971	13888971	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:13888971delA	ENST00000588234.1	+	3	569	c.259delA	c.(259-261)aaafs	p.K87fs	C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	87										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AGCCAAGAAGAAAGGGGCAGC	0.597																																						ENST00000588234.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(259-261)aafs		chromosome 19 open reading frame 53							49.0	47.0	48.0					19																	13888971		2203	4300	6503	SO:0001589	frameshift_variant	28974							g.chr19:13888971delA	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.259delA	19.37:g.13888971delA	ENSP00000465432:p.Lys87fs					C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs	p.K87fs	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)		3	569	+			87					B2R4J9	Frame_Shift_Del	DEL	ENST00000588234.1	37	c.259delA	CCDS12298.1																																																																																				0.597	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		26	66						26	66	---	---	---	---
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	lincRNA	DEL	T	T	-	rs559860539|rs34190287|rs66639120	byFrequency	TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													|||unknown(HR)	1522	0.303914	0.3994	0.2983	5008	,	,		15302	0.2619		0.2346	False		,,,				2504	0.2935					ENST00000597550.1																			0																																																			0							g.chr19:53703995delT																													19.37:g.53703995delT														0	232	+									RNA	DEL	ENST00000597550.1	37																																																																																						0.473	CTD-2245F17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464185.1			2	4						2	4	---	---	---	---
