#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
INTS10	55174	broad.mit.edu	37	8	19682476	19682476	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:19682476C>T	ENST00000397977.3	+	8	1397	c.999C>T	c.(997-999)ctC>ctT	p.L333L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	333					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGCCATCTCTCTTCCAAGGTT	0.398																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(997-999)ctC>ctT		integrator complex subunit 10							88.0	82.0	84.0					8																	19682476		1905	4115	6020	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19682476C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.999C>T	8.37:g.19682476C>T							p.L333L	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	8	1397	+			333					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.999C>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964609	0.18583	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.82	1.95	0.26073	.	.	.	.	.	T	0.53302	0.1788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39722	-0.9600	4	.	.	.	-15.9663	5.585	0.17269	0.3042:0.5126:0.1163:0.0668	.	.	.	.	F	109	.	.	S	+	2	0	INTS10	19726756	0.285000	0.24296	0.999000	0.59377	0.918000	0.54935	-0.414000	0.07114	0.076000	0.16826	0.467000	0.42956	TCT		0.398	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		3	52	0	0	0	1	0	3	52				
AHNAK2	113146	broad.mit.edu	37	14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:105407424C>G	ENST00000333244.5	-	7	14483	c.14364G>C	c.(14362-14364)gaG>gaC	p.E4788D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4788						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGTAACATCCTCACAGGGAG	0.498																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14362-14364)gaG>gaC		AHNAK nucleoprotein 2							94.0	97.0	96.0					14																	105407424		1934	4136	6070	SO:0001583	missense	113146					nucleus		g.chr14:105407424C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14364G>C	14.37:g.105407424C>G	ENSP00000353114:p.Glu4788Asp					AHNAK2_ENST00000557457.1_Intron	p.E4788D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14483	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4788					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14364G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	7.973	0.749496	0.15778	.	.	ENSG00000185567	ENST00000333244	T	0.08370	3.1	3.86	0.277	0.15668	.	.	.	.	.	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.46938	-0.9155	9	0.12766	T	0.61	.	1.451	0.02375	0.3535:0.3505:0.1296:0.1664	.	4788	Q8IVF2	AHNK2_HUMAN	D	4788	ENSP00000353114:E4788D	ENSP00000353114:E4788D	E	-	3	2	AHNAK2	104478469	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.310000	0.00517	-0.208000	0.10171	0.460000	0.39030	GAG		0.498	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	80	0	0	0	1	0	36	80				
TRIM5	85363	broad.mit.edu	37	11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:5686409C>T	ENST00000380034.3	-	8	1368	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Nonsense_Mutation_p.W371*|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	371	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCCAGGATCCAAGCAGTTTT	0.403																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1111-1113)tGg>tAg		tripartite motif containing 5							113.0	112.0	112.0					11																	5686409		2201	4297	6498	SO:0001587	stop_gained	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686409C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1112G>A	11.37:g.5686409C>T	ENSP00000369373:p.Trp371*					TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000380027.1_Intron	p.W371*			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1414	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	371			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Nonsense_Mutation	SNP	ENST00000380034.3	37	c.1112G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355516	0.95854	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	.	.	.	3.71	3.71	0.42584	.	0.000000	0.43579	D	0.000553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2557	0.49052	0.0:1.0:0.0:0.0	.	.	.	.	X	371	.	ENSP00000307031:W371X	W	-	2	0	TRIM5	5642985	1.000000	0.71417	0.489000	0.27452	0.125000	0.20455	4.827000	0.62723	2.374000	0.81015	0.655000	0.94253	TGG		0.403	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		7	210	0	0	0	1	0	7	210				
ANKRD19P	138649	broad.mit.edu	37	9	95599910	95599910	+	RNA	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr9:95599910T>C	ENST00000473204.1	+	0	1991							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											TTTGAACTTGTCGAACCAGAT	0.557																																						ENST00000473204.1																			0																																																			0							g.chr9:95599910T>C	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599910T>C														0	1991	+								A8K853|Q17RD3	RNA	SNP	ENST00000473204.1	37																																																																																						0.557	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		3	63	0	0	0	1	0	3	63				
EPHA3	2042	broad.mit.edu	37	3	89259294	89259294	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:89259294T>G	ENST00000336596.2	+	3	663	c.438T>G	c.(436-438)atT>atG	p.I146M	EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M|EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	146	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGACACCATTGCAGCTGATG	0.418										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(436-438)atT>atG		EPH receptor A3							153.0	142.0	146.0					3																	89259294		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259294T>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.438T>G	3.37:g.89259294T>G	ENSP00000337451:p.Ile146Met	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M	p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	663	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	146					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.438T>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046411	0.55110	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.15256	2.44;2.44;2.44	5.57	0.361	0.16107	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.93197	3.39	0.48762	D	0.9997	D;D	0.89917	0.996;1.0	D;D	0.80764	0.991;0.994	T	0.55667	-0.8105	9	.	.	.	.	10.8025	0.46497	0.0:0.3172:0.0:0.6828	.	146;146	P29320;P29320-2	EPHA3_HUMAN;.	M	146	ENSP00000337451:I146M;ENSP00000399926:I146M;ENSP00000419190:I146M	.	I	+	3	3	EPHA3	89341984	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.434000	0.21494	0.070000	0.16634	0.455000	0.32223	ATT		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		10	207	0	0	0	1	0	10	207				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	49	0	0	0	1	0	4	49				
MMP16	4325	broad.mit.edu	37	8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:89180005C>T	ENST00000286614.6	-	4	883	c.602G>A	c.(601-603)gGa>gAa	p.G201E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	201					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCCTCCCTCTCCATCAAAGGG	0.443																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(601-603)gGa>gAa		matrix metallopeptidase 16 (membrane-inserted)							91.0	80.0	84.0					8																	89180005		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180005C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.602G>A	8.37:g.89180005C>T	ENSP00000286614:p.Gly201Glu					MMP16_ENST00000544227.1_5'UTR	p.G201E	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			4	883	-			201					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.602G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172264	0.94807	.	.	ENSG00000156103	ENST00000286614	T	0.27557	1.66	5.5	5.5	0.81552	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.096958	0.64402	D	0.000001	T	0.72170	0.3427	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82946	-0.0205	10	0.87932	D	0	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	201;201	P51512-2;P51512	.;MMP16_HUMAN	E	201	ENSP00000286614:G201E	ENSP00000286614:G201E	G	-	2	0	MMP16	89249121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.751000	0.85126	2.602000	0.87976	0.644000	0.83932	GGA		0.443	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		36	75	0	0	0	1	0	36	75				
LIPG	9388	broad.mit.edu	37	18	47108803	47108803	+	Missense_Mutation	SNP	G	G	A	rs201407808		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr18:47108803G>A	ENST00000261292.4	+	7	1386	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	LIPG_ENST00000427224.2_Missense_Mutation_p.V296I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	370	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTTTTACGTCACCCTTTA	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		23880	0.0		0.001	False		,,,				2504	0.0				Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1108-1110)Gtc>Atc		lipase, endothelial		G	ILE/VAL	0,4406		0,0,2203	168.0	134.0	146.0		1108	5.3	0.9	18		146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LIPG	NM_006033.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	370/501	47108803	1,13005	2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47108803G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1108G>A	18.37:g.47108803G>A	ENSP00000261292:p.Val370Ile					LIPG_ENST00000427224.2_Missense_Mutation_p.V296I	p.V370I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			7	1386	+			370			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1108G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	4.298	0.054485	0.08291	0.0	1.16E-4	ENSG00000101670	ENST00000261292;ENST00000427224	T;T	0.63417	-0.04;-0.04	6.17	5.29	0.74685	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.051109	0.85682	N	0.000000	T	0.46521	0.1397	N	0.17631	0.505	0.80722	D	1	P;P	0.40834	0.73;0.593	B;B	0.42343	0.384;0.384	T	0.47873	-0.9083	10	0.02654	T	1	-29.6539	14.6874	0.69059	0.0698:0.0:0.9302:0.0	.	296;370	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	I	370;296	ENSP00000261292:V370I;ENSP00000387978:V296I	ENSP00000261292:V370I	V	+	1	0	LIPG	45362801	0.987000	0.35691	0.873000	0.34254	0.030000	0.12068	1.906000	0.39887	1.598000	0.50083	0.655000	0.94253	GTC		0.448	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		9	91	0	0	0	1	0	9	91				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	51	0	0	0	1	0	4	51				
NOVA2	4858	broad.mit.edu	37	19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:46457064T>A	ENST00000263257.5	-	3	564	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	124					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGTTCATCGTGGTTTGGGGT	0.527																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(370-372)Acg>Tcg		neuro-oncological ventral antigen 2							305.0	259.0	274.0					19																	46457064		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46457064T>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.370A>T	19.37:g.46457064T>A	ENSP00000263257:p.Thr124Ser						p.T124S	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	3	564	-		all_neural(266;0.113)|Ovarian(192;0.127)	124					O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.370A>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471471	0.63737	.	.	ENSG00000104967	ENST00000263257	T	0.62639	0.01	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	N	0.24115	0.695	0.50632	D	0.999888	D	0.63880	0.993	D	0.68192	0.956	T	0.58306	-0.7659	10	0.18710	T	0.47	-5.6018	12.4742	0.55803	0.0:0.0:0.0:1.0	.	124	Q9UNW9	NOVA2_HUMAN	S	124	ENSP00000263257:T124S	ENSP00000263257:T124S	T	-	1	0	NOVA2	51148904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.508000	0.81686	2.046000	0.60703	0.460000	0.39030	ACG		0.527	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		61	144	0	0	0	1	0	61	144				
OSR1	130497	broad.mit.edu	37	2	19553372	19553372	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:19553372C>T	ENST00000272223.2	-	2	539	c.195G>A	c.(193-195)ccG>ccA	p.P65P	OSR1_ENST00000536433.1_Silent_p.P65P	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	65					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGAAGAGCGCGGCAAGTGCA	0.612																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(193-195)ccG>ccA		odd-skipped related transciption factor 1							38.0	41.0	40.0					2																	19553372		2203	4300	6503	SO:0001819	synonymous_variant	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553372C>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.195G>A	2.37:g.19553372C>T						OSR1_ENST00000272223.2_Silent_p.P65P	p.P65P			Q8TAX0	OSR1_HUMAN			1	3305	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	65					B3KV97|D6W521	Silent	SNP	ENST00000272223.2	37	c.195G>A	CCDS1694.1																																																																																				0.612	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		5	57	0	0	0	1	0	5	57				
PPARA	5465	broad.mit.edu	37	22	46611177	46611177	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:46611177G>A	ENST00000396000.2	+	4	581	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R|PPARA_ENST00000407236.1_Missense_Mutation_p.G106R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	106					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TAGAATCTGCGGGGACAAGGC	0.592																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(316-318)Ggg>Agg		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						89.0	74.0	79.0					22																	46611177		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46611177G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.316G>A	22.37:g.46611177G>A	ENSP00000379322:p.Gly106Arg					PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R|PPARA_ENST00000407236.1_Missense_Mutation_p.G106R	p.G106R			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	4	581	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	106					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.316G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224169	0.79576	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	5.15	5.15	0.70609	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.098076	0.64402	D	0.000001	D	0.98283	0.9431	M	0.88377	2.95	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67231	0.95;0.95	D	0.99297	1.0900	10	0.87932	D	0	.	17.9572	0.89073	0.0:0.0:1.0:0.0	.	106;106	F1D8S4;Q07869	.;PPARA_HUMAN	R	106	ENSP00000379322:G106R;ENSP00000262735:G106R;ENSP00000414752:G106R;ENSP00000385523:G106R;ENSP00000385246:G106R;ENSP00000408149:G106R	ENSP00000262735:G106R	G	+	1	0	PPARA	44989841	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	4.008000	0.57103	2.546000	0.85860	0.591000	0.81541	GGG		0.592	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		4	52	0	0	0	1	0	4	52				
SHC1	6464	broad.mit.edu	37	1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:154941890C>T	ENST00000368445.5	-	2	744	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000448116.2_Missense_Mutation_p.R177H	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	177	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGGCACGCATTGACTG	0.602																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(529-531)cGt>cAt		SHC (Src homology 2 domain containing) transforming protein 1							77.0	61.0	66.0					1																	154941890		2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154941890C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.530G>A	1.37:g.154941890C>T	ENSP00000357430:p.Arg177His					SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H	p.R177H	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	750	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		177			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.530G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208166	0.95033	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000412170;ENST00000366442	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	4.92	4.92	0.64577	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.88704	2.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.55153	-0.8185	10	0.87932	D	0	.	15.6675	0.77242	0.0:1.0:0.0:0.0	.	177;177	P29353-6;P29353	.;SHC1_HUMAN	H	177;177;67;67;113;67;67	ENSP00000357430:R177H;ENSP00000401303:R177H;ENSP00000357438:R67H;ENSP00000357435:R67H;ENSP00000398441:R67H;ENSP00000396162:R67H	ENSP00000396162:R67H	R	-	2	0	SHC1	153208514	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.256000	0.78350	2.580000	0.87095	0.655000	0.94253	CGT		0.602	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		6	35	0	0	0	1	0	6	35				
UVSSA	57654	broad.mit.edu	37	4	1348988	1348988	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:1348988A>G	ENST00000389851.4	+	7	1578	c.1131A>G	c.(1129-1131)aaA>aaG	p.K377K	UVSSA_ENST00000511216.1_Silent_p.K377K|AC078852.1_ENST00000504748.1_RNA|UVSSA_ENST00000507531.1_Silent_p.K377K	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	377					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TACTGAGAAAATACAAGGAGC	0.627																																						ENST00000389851.4																			0											c.(1129-1131)aaA>aaG		UV-stimulated scaffold protein A							52.0	53.0	53.0					4																	1348988		2203	4298	6501	SO:0001819	synonymous_variant	57654							g.chr4:1348988A>G	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1131A>G	4.37:g.1348988A>G						UVSSA_ENST00000507531.1_Silent_p.K377K|UVSSA_ENST00000511216.1_Silent_p.K377K	p.K377K	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			7	1578	+			377					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.1131A>G	CCDS33938.1																																																																																				0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		16	21	0	0	0	1	0	16	21				
MROH2B	133558	broad.mit.edu	37	5	41005012	41005012	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr5:41005012T>C	ENST00000399564.4	-	36	4325	c.3875A>G	c.(3874-3876)gAa>gGa	p.E1292G	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1292																	AAGGATTGGTTCCTTCATGAG	0.488																																						ENST00000399564.4																			0											c.(3874-3876)gAa>gGa		maestro heat-like repeat family member 2B							90.0	86.0	87.0					5																	41005012		1993	4165	6158	SO:0001583	missense	133558							g.chr5:41005012T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3875A>G	5.37:g.41005012T>C	ENSP00000382476:p.Glu1292Gly					MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	p.E1292G	NM_173489.4	NP_775760.3					36	4325	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3875A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306492	0.81247	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66280	-0.2;-0.2	6.0	6.0	0.97389	Armadillo-type fold (1);	3.322900	0.00424	N	0.000065	T	0.69744	0.3145	L	0.43152	1.355	0.38016	D	0.934704	D	0.58620	0.983	P	0.53062	0.717	T	0.53436	-0.8439	10	0.19590	T	0.45	.	12.9028	0.58135	0.0:0.0:0.0:1.0	.	1292	Q7Z745	HTRB2_HUMAN	G	847;997;1292	ENSP00000441504:E847G;ENSP00000382476:E1292G	ENSP00000296803:E997G	E	-	2	0	HEATR7B2	41040769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.913000	0.56394	2.304000	0.77564	0.523000	0.50628	GAA		0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	60	0	0	0	1	0	7	60				
AKAP9	10142	broad.mit.edu	37	7	91667795	91667795	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:91667795A>G	ENST00000359028.2	+	18	4662	c.4437A>G	c.(4435-4437)ggA>ggG	p.G1479G	AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1479					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGGGGGAAAAGAAAATA	0.318			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4435-4437)ggA>ggG		A kinase (PRKA) anchor protein 9							62.0	62.0	62.0					7																	91667795		2203	4299	6502	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91667795A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4437A>G	7.37:g.91667795A>G						AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G	p.G1479G			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		18	4662	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1479					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.4437A>G																																																																																					0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		4	63	0	0	0	1	0	4	63				
ARHGEF19	128272	broad.mit.edu	37	1	16534595	16534595	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:16534595A>G	ENST00000270747.3	-	3	674	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	180					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCAGACAACTCCACCCTG	0.667																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(538-540)Ttg>Ctg		Rho guanine nucleotide exchange factor (GEF) 19							64.0	67.0	66.0					1																	16534595		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534595A>G	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.538T>C	1.37:g.16534595A>G						ARHGEF19_ENST00000421561.1_Silent_p.L180L	p.L180L	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	3	674	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	180					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.538T>C	CCDS170.1																																																																																				0.667	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		4	100	0	0	0	1	0	4	100				
DLST	1743	broad.mit.edu	37	14	75367846	75367846	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:75367846G>A	ENST00000334220.4	+	14	1198	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	DLST_ENST00000334212.6_Silent_p.S293S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	379					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TTTTTGGCTCGCTCTTTGGAA	0.488																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1135-1137)tcG>tcA		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							143.0	131.0	135.0					14																	75367846		2203	4300	6503	SO:0001819	synonymous_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75367846G>A		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1137G>A	14.37:g.75367846G>A						DLST_ENST00000334212.6_Silent_p.S293S	p.S379S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	14	1198	+			379					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.1137G>A	CCDS9833.1																																																																																				0.488	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			9	118	0	0	0	1	0	9	118				
EYS	346007	broad.mit.edu	37	6	66115187	66115187	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:66115187G>A	ENST00000370621.3	-	6	1462	c.936C>T	c.(934-936)agC>agT	p.S312S	EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000503581.1_Silent_p.S312S|EYS_ENST00000393380.2_Silent_p.S312S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	312					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAACTGCTATTTGGGC	0.378																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(934-936)agC>agT		eyes shut homolog (Drosophila)							161.0	166.0	164.0					6																	66115187		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115187G>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.936C>T	6.37:g.66115187G>A						EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S	p.S312S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			6	1473	-			312					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.936C>T																																																																																					0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		10	131	0	0	0	1	0	10	131				
KANK4	163782	broad.mit.edu	37	1	62739197	62739197	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:62739197C>T	ENST00000371153.4	-	3	1957	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	527						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTCTTTCTGTCGCTGCCCCAC	0.602																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1579-1581)Gac>Aac		KN motif and ankyrin repeat domains 4							54.0	55.0	55.0					1																	62739197		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739197C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1579G>A	1.37:g.62739197C>T	ENSP00000360195:p.Asp527Asn					KANK4_ENST00000354381.3_Intron	p.D527N	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1957	-			527					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1579G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378099	0.24944	.	.	ENSG00000132854	ENST00000371153	T	0.45276	0.9	4.68	1.44	0.22558	.	0.816249	0.09985	N	0.730482	T	0.32010	0.0815	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.27673	-1.0067	10	0.39692	T	0.17	-3.3583	4.0806	0.09924	0.0:0.562:0.1935:0.2445	.	527	Q5T7N3	KANK4_HUMAN	N	527	ENSP00000360195:D527N	ENSP00000360195:D527N	D	-	1	0	KANK4	62511785	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.506000	0.06359	0.084000	0.17077	0.655000	0.94253	GAC		0.602	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		28	74	0	0	0	1	0	28	74				
ANKRD27	84079	broad.mit.edu	37	19	33122333	33122333	+	Missense_Mutation	SNP	G	G	A	rs201398434		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:33122333G>A	ENST00000306065.4	-	13	1342	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	395					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S395L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTGGGAGACGAAGTCATCTG	0.478																																						ENST00000306065.4																			1	Substitution - Missense(1)	p.S395L(1)	ovary(1)	breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1183-1185)tCg>tTg		ankyrin repeat domain 27 (VPS9 domain)							165.0	145.0	152.0					19																	33122333		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33122333G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1184C>T	19.37:g.33122333G>A	ENSP00000304292:p.Ser395Leu						p.S395L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			13	1342	-	Esophageal squamous(110;0.137)		395					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1184C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236874	0.58886	.	.	ENSG00000105186	ENST00000306065	T	0.62639	0.01	5.38	5.38	0.77491	Ankyrin repeat-containing domain (1);	0.133396	0.34460	N	0.003957	T	0.57710	0.2072	N	0.20986	0.625	0.80722	D	1	D	0.58970	0.984	P	0.47645	0.553	T	0.61874	-0.6973	10	0.51188	T	0.08	-14.012	19.1212	0.93364	0.0:0.0:1.0:0.0	.	395	Q96NW4	ANR27_HUMAN	L	395	ENSP00000304292:S395L	ENSP00000304292:S395L	S	-	2	0	ANKRD27	37814173	0.993000	0.37304	0.245000	0.24217	0.262000	0.26303	6.638000	0.74309	2.504000	0.84457	0.549000	0.68633	TCG		0.478	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		23	104	0	0	0	1	0	23	104				
OR2A14	135941	broad.mit.edu	37	7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A	rs199919624		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:143826812G>A	ENST00000408899.2	+	1	662	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20177	0.0		0.001	False		,,,				2504	0.0					ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(607-609)Gtg>Atg		olfactory receptor, family 2, subfamily A, member 14							153.0	159.0	157.0					7																	143826812		2046	4198	6244	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826812G>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.607G>A	7.37:g.143826812G>A	ENSP00000386137:p.Val203Met						p.V203M	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	662	+	Melanoma(164;0.0783)		203					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.607G>A	CCDS43672.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.265	-0.614712	0.03663	.	.	ENSG00000221938	ENST00000408899	T	0.41065	1.01	4.18	-0.71	0.11234	GPCR, rhodopsin-like superfamily (1);	0.308595	0.17550	U	0.170216	T	0.36193	0.0958	L	0.61387	1.9	0.09310	N	1	B	0.28082	0.2	B	0.34346	0.18	T	0.37865	-0.9687	10	0.62326	D	0.03	-15.1716	3.8812	0.09079	0.4317:0.0:0.405:0.1634	.	203	Q96R47	O2A14_HUMAN	M	203	ENSP00000386137:V203M	ENSP00000386137:V203M	V	+	1	0	OR2A14	143457745	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-0.374000	0.07484	-0.054000	0.13266	-2.357000	0.00240	GTG		0.577	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			41	356	0	0	0	1	0	41	356				
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A	rs534005643		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711																																						ENST00000329286.6																			1	Substitution - coding silent(1)	p.G49G(1)	prostate(1)	breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						c.(145-147)ggC>ggA		RAB12, member RAS oncogene family							12.0	17.0	15.0					18																	8609872		1918	4118	6036	SO:0001819	synonymous_variant	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8609872C>A		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.147C>A	18.37:g.8609872C>A							p.G49G	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN			1	430	+			49					A6NEF5|Q4KMQ3	Silent	SNP	ENST00000329286.6	37	c.147C>A	CCDS42410.1																																																																																				0.711	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		5	29	1	0	3.59834e-05	1	3.80049e-05	5	29				
BEST4	266675	broad.mit.edu	37	1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:45253307C>T	ENST00000372207.3	-	1	70	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	24						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCTTCCCCTCCAGCGGAGAAG	0.572																																						ENST00000372207.3																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(70-72)tGg>tAg		bestrophin 4							95.0	105.0	102.0					1																	45253307		2203	4300	6503	SO:0001587	stop_gained	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45253307C>T	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.71G>A	1.37:g.45253307C>T	ENSP00000361281:p.Trp24*						p.W24*	NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN			1	70	-	Acute lymphoblastic leukemia(166;0.155)		24					Q5JR93	Nonsense_Mutation	SNP	ENST00000372207.3	37	c.71G>A	CCDS514.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193848	0.78902	.	.	ENSG00000142959	ENST00000372207	.	.	.	4.68	4.68	0.58851	.	0.072060	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0509	15.1429	0.72623	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000361281:W24X	W	-	2	0	BEST4	45025894	1.000000	0.71417	0.980000	0.43619	0.635000	0.38103	7.635000	0.83286	2.427000	0.82271	0.655000	0.94253	TGG		0.572	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		26	215	0	0	0	1	0	26	215				
CLVS2	134829	broad.mit.edu	37	6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A	rs376660185		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:123369870G>A	ENST00000275162.5	+	4	2003	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378																																						ENST00000275162.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(667-669)cGg>cAg		clavesin 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	116.0	114.0		668	4.8	1.0	6		114	0,8600		0,0,4300	no	missense	CLVS2	NM_001010852.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	223/328	123369870	1,13005	2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123369870G>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.668G>A	6.37:g.123369870G>A	ENSP00000275162:p.Arg223Gln					CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	p.R223Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			4	2003	+			223			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.668G>A	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033250	0.93575	2.27E-4	0.0	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.77620	-1.11;-1.11	5.72	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.055607	0.64402	D	0.000001	T	0.61837	0.2379	L	0.49256	1.55	0.80722	D	1	P	0.47841	0.901	B	0.37692	0.256	T	0.64740	-0.6336	10	0.33141	T	0.24	-16.4352	15.8674	0.79074	0.0:0.0:0.8639:0.1361	.	223	Q5SYC1	CLVS2_HUMAN	Q	223;77	ENSP00000275162:R223Q;ENSP00000357423:R77Q	ENSP00000275162:R223Q	R	+	2	0	CLVS2	123411569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.850000	0.98022	0.650000	0.86243	CGG		0.378	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		4	81	0	0	0	1	0	4	81				
SLC5A12	159963	broad.mit.edu	37	11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26702725C>A	ENST00000396005.3	-	12	1661	c.1352G>T	c.(1351-1353)tGg>tTg	p.W451L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	451					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGGCCACCCAAAATGACAA	0.448																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(1351-1353)tGg>tTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							65.0	62.0	63.0					11																	26702725		1894	4108	6002	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26702725C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1352G>T	11.37:g.26702725C>A	ENSP00000379326:p.Trp451Leu						p.W451L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			12	1661	-			451					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1352G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765467	0.90020	.	.	ENSG00000148942	ENST00000396005	D	0.87809	-2.3	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95022	0.8161	10	0.87932	D	0	.	18.1964	0.89823	0.0:1.0:0.0:0.0	.	451	Q1EHB4	SC5AC_HUMAN	L	451	ENSP00000379326:W451L	ENSP00000379326:W451L	W	-	2	0	SLC5A12	26659301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.863000	0.69568	2.590000	0.87494	0.655000	0.94253	TGG		0.448	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		3	35	1	0	0.004672	1	0.00482602	3	35				
PTPRU	10076	broad.mit.edu	37	1	29644362	29644362	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:29644362G>T	ENST00000345512.3	+	26	3775	c.3646G>T	c.(3646-3648)Gac>Tac	p.D1216Y	PTPRU_ENST00000356870.3_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1206Y|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1212Y	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1216	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCCGCCCGACCGCTGCCT	0.637																																						ENST00000323874.8																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(3634-3636)Gac>Tac		protein tyrosine phosphatase, receptor type, U							90.0	75.0	80.0					1																	29644362		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29644362G>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3646G>T	1.37:g.29644362G>T	ENSP00000334941:p.Asp1216Tyr					PTPRU_ENST00000373779.3_Missense_Mutation_p.D1206Y|PTPRU_ENST00000345512.3_Missense_Mutation_p.D1216Y|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y	p.D1212Y			Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	26	3744	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1216			Tyrosine-protein phosphatase 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.3634G>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586243	0.86851	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	4.62	4.62	0.57501	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	H	0.98407	4.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.978;0.978;0.978;0.987;0.987	D	0.98362	1.0549	9	.	.	.	.	17.0229	0.86438	0.0:0.0:1.0:0.0	.	1203;1212;1206;1212;1216	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Y	1216;1206;1212;1212;1203;1212	ENSP00000334941:D1216Y;ENSP00000362884:D1206Y;ENSP00000349333:D1212Y;ENSP00000314987:D1212Y;ENSP00000392332:D1203Y;ENSP00000432906:D1212Y	.	D	+	1	0	PTPRU	29516949	1.000000	0.71417	0.958000	0.39756	0.940000	0.58332	9.648000	0.98483	2.546000	0.85860	0.655000	0.94253	GAC		0.637	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			17	90	1	0	1.99824e-07	1	2.15901e-07	17	90				
TPSB2	64499	broad.mit.edu	37	16	1278552	1278552	+	RNA	SNP	A	A	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:1278552A>T	ENST00000339687.6	-	0	848				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GGGGCAGGGAAGGTGTGGGGG	0.647																																						ENST00000430512.2																			0				lung(1)|upper_aerodigestive_tract(1)	2								tryptase beta 2 (gene/pseudogene)																																						64499				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1278552A>T	AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1278552A>T						TPSB2_ENST00000339687.6_RNA		NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN			0	974	-		Hepatocellular(780;0.00369)						D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	RNA	SNP	ENST00000339687.6	37																																																																																						0.647	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		8	10	0	0	0	1	0	8	10				
FHOD1	29109	broad.mit.edu	37	16	67264087	67264087	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:67264087G>A	ENST00000258201.4	-	20	3343	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1032					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGGGACAGAGGGGTTGCTGG	0.597																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3094-3096)ccC>ccT		formin homology 2 domain containing 1							48.0	54.0	52.0					16																	67264087		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264087G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3096C>T	16.37:g.67264087G>A						FHOD1_ENST00000567687.1_Silent_p.P611P	p.P1032P	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	20	3343	-		Ovarian(137;0.0563)	1032					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.3096C>T	CCDS10834.1																																																																																				0.597	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			53	103	0	0	0	1	0	53	103				
KCNH7	90134	broad.mit.edu	37	2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	rs149070457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:163291905C>A	ENST00000332142.5	-	8	1856	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	586					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G586E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATCCAACCATCCGATTTTGTC	0.433																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - Missense(1)	p.G586E(1)	skin(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1756-1758)gGa>gTa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						191.0	171.0	178.0					2																	163291905		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291905C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1757G>T	2.37:g.163291905C>A	ENSP00000331727:p.Gly586Val					KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	p.G586V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1856	-			586					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1757G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794356	0.90453	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99680	-5.27;-6.38	5.9	5.9	0.94986	Ion transport (1);	0.045973	0.85682	D	0.000000	D	0.99799	0.9914	M	0.92412	3.305	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.74348	0.983;0.956	D	0.97507	1.0064	10	0.72032	D	0.01	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	579;586	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	V	586;579	ENSP00000331727:G586V;ENSP00000333781:G579V	ENSP00000333781:G579V	G	-	2	0	KCNH7	163000151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGA		0.433	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		5	136	1	0	0.184627	1	0.184627	5	136				
OR6N2	81442	broad.mit.edu	37	1	158746588	158746588	+	Missense_Mutation	SNP	C	C	T	rs186539843		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:158746588C>T	ENST00000339258.1	-	1	837	c.838G>A	c.(838-840)Gta>Ata	p.V280I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V280I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTGTTAGTACGGAGTAAACT	0.423																																						ENST00000339258.1																			1	Substitution - Missense(1)	p.V280I(1)	endometrium(1)	endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(838-840)Gta>Ata		olfactory receptor, family 6, subfamily N, member 2		T	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	156.0	146.0	149.0		838	3.8	1.0	1		149	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR6N2	NM_001005278.1	29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	280/318	158746588	4,13002	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746588C>T	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.838G>A	1.37:g.158746588C>T	ENSP00000344101:p.Val280Ile						p.V280I	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	837	-	all_hematologic(112;0.0378)		280					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.838G>A	CCDS30906.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	13.02	2.111613	0.37242	2.27E-4	3.49E-4	ENSG00000188340	ENST00000339258	T	0.00289	8.28	4.74	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.263351	0.20021	N	0.100915	T	0.00039	0.0001	L	0.31578	0.945	0.21675	N	0.999597	P	0.42203	0.773	B	0.33620	0.167	T	0.00305	-1.1831	10	0.30078	T	0.28	-6.0462	12.224	0.54449	0.0:0.9157:0.0:0.0843	.	280	Q8NGY6	OR6N2_HUMAN	I	280	ENSP00000344101:V280I	ENSP00000344101:V280I	V	-	1	0	OR6N2	157013212	0.000000	0.05858	0.997000	0.53966	0.716000	0.41182	-0.680000	0.05197	1.217000	0.43442	-0.127000	0.14921	GTA		0.423	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			8	117	0	0	0	1	0	8	117				
WWP1	11059	broad.mit.edu	37	8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:87423858T>G	ENST00000517970.1	+	9	1123	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	272					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTCTCCAAATTGCACTAGTA	0.413																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(814-816)aaT>aaG		WW domain containing E3 ubiquitin protein ligase 1							121.0	115.0	117.0					8																	87423858		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87423858T>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.816T>G	8.37:g.87423858T>G	ENSP00000427793:p.Asn272Lys					WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K	p.N272K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			9	1123	+			272					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.816T>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	T	7.889	0.731831	0.15507	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.42513	1.02;1.02;0.97;1.04	5.73	1.97	0.26223	.	1.366900	0.04829	N	0.438462	T	0.21267	0.0512	N	0.08118	0	0.26785	N	0.969525	B;B	0.15473	0.013;0.0	B;B	0.16289	0.015;0.0	T	0.23226	-1.0194	10	0.10377	T	0.69	.	4.7879	0.13234	0.0:0.2453:0.1502:0.6045	.	54;272	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	K	272;272;142;54	ENSP00000427793:N272K;ENSP00000265428:N272K;ENSP00000340564:N142K;ENSP00000342665:N54K	ENSP00000265428:N272K	N	+	3	2	WWP1	87492974	1.000000	0.71417	0.069000	0.20011	0.976000	0.68499	1.784000	0.38674	0.097000	0.17492	0.528000	0.53228	AAT		0.413	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		30	55	0	0	0	1	0	30	55				
SCN9A	6335	broad.mit.edu	37	2	167133601	167133601	+	Silent	SNP	G	G	A	rs199653503	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:167133601G>A	ENST00000409435.1	-	15	2765	c.2766C>T	c.(2764-2766)cgC>cgT	p.R922R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.R923R|SCN9A_ENST00000409672.1_Silent_p.R911R|SCN9A_ENST00000375387.4_Silent_p.R923R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	922					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACACAGCACGCGGAACACAA	0.483													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		14772	0.0		0.0	False		,,,				2504	0.0					ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(2767-2769)cgC>cgT		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)	G		16,4390	22.3+/-47.3	0,16,2187	199.0	190.0	193.0		2733	-11.3	0.0	2	dbSNP_134	193	0,8594		0,0,4297	no	coding-synonymous	SCN9A	NM_002977.3		0,16,6484	AA,AG,GG		0.0,0.3631,0.1231		911/1978	167133601	16,12984	2203	4297	6500	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167133601G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2766C>T	2.37:g.167133601G>A						SCN9A_ENST00000303354.6_Silent_p.R923R|SCN9A_ENST00000409672.1_Silent_p.R911R|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.R922R	p.R923R			Q15858	SCN9A_HUMAN			16	3109	-			922					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.2769C>T	CCDS46441.1																																																																																				0.483	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		28	276	0	0	0	1	0	28	276				
MYL5	4636	broad.mit.edu	37	4	673714	673714	+	Missense_Mutation	SNP	G	G	A	rs552131207		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:673714G>A	ENST00000400159.2	+	4	304	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	MYL5_ENST00000505477.1_Missense_Mutation_p.V26I|MYL5_ENST00000506838.1_Missense_Mutation_p.V26I|MYL5_ENST00000511290.1_Missense_Mutation_p.V26I	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	67					regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(1)|kidney(1)|lung(1)	3						CAAGACCAACGTCAAGGACGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18391	0.0		0.0	False		,,,				2504	0.001					ENST00000506838.1																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(76-78)Gtc>Atc		myosin, light chain 5, regulatory							80.0	93.0	89.0					4																	673714		2198	4298	6496	SO:0001583	missense	4636				regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr4:673714G>A		CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"""Myosins / Light chain"", ""EF-hand domain containing"""	7586	protein-coding gene	gene with protein product		160782	"""myosin, light polypeptide 5, regulatory"""			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.199G>A	4.37:g.673714G>A	ENSP00000383023:p.Val67Ile					MYL5_ENST00000511290.1_Missense_Mutation_p.V26I|MYL5_ENST00000400159.2_Missense_Mutation_p.V67I|MYL5_ENST00000505477.1_Missense_Mutation_p.V26I	p.V26I			Q02045	MYL5_HUMAN			5	2600	+			67					Q8IXL8	Missense_Mutation	SNP	ENST00000400159.2	37	c.76G>A	CCDS43197.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916411	0.17907	.	.	ENSG00000215375	ENST00000506838;ENST00000505477;ENST00000511290;ENST00000400159;ENST00000507804	T;T;T;T;T	0.78816	-1.09;-1.09;-1.09;-1.21;-1.21	4.12	2.37	0.29283	EF-hand-like domain (1);	0.000000	0.28730	U	0.014333	T	0.66386	0.2784	L	0.46947	1.48	0.20764	N	0.999853	B	0.12013	0.005	B	0.04013	0.001	T	0.50591	-0.8810	10	0.23891	T	0.37	.	8.0198	0.30402	0.2081:0.0:0.7919:0.0	.	67	Q02045	MYL5_HUMAN	I	26;26;26;67;72	ENSP00000427153:V26I;ENSP00000423118:V26I;ENSP00000425162:V26I;ENSP00000383023:V67I;ENSP00000427317:V72I	ENSP00000383023:V67I	V	+	1	0	MYL5	663714	0.171000	0.23029	0.134000	0.22075	0.061000	0.15899	1.439000	0.35013	0.226000	0.20979	0.561000	0.74099	GTC		0.607	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358570.2	NM_002477		37	58	0	0	0	1	0	37	58				
ANXA11	311	broad.mit.edu	37	10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr10:81917453C>A	ENST00000438331.1	-	16	1884	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	468					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GATCTGATGTCCAGGAGGTCG	0.577																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(1402-1404)Gac>Tac		annexin A11							142.0	125.0	131.0					10																	81917453		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81917453C>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1402G>T	10.37:g.81917453C>A	ENSP00000398610:p.Asp468Tyr					ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y	p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		16	1884	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		468					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.1402G>T	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.741048|4.741048	0.89573|0.89573	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219|ENST00000447489	T;T;T;T;T;T;T|.	0.03468|.	3.92;3.92;3.92;3.92;3.92;3.92;3.92|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Annexin repeat, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76335|0.76335	0.3973|0.3973	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	P;D;D|.	0.83275|.	0.843;0.996;0.996|.	T|T	0.76990|0.76990	-0.2754|-0.2754	10|5	0.66056|.	D|.	0.02|.	.|.	16.5377|16.5377	0.84377|0.84377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	568;468;468|.	B7Z6L0;Q5T0G8;P50995|.	.;.;ANX11_HUMAN|.	Y|C	468;468;468;468;468;468;468;375;435;115|100	ENSP00000361305:D468Y;ENSP00000404412:D468Y;ENSP00000398610:D468Y;ENSP00000353827:D468Y;ENSP00000265447:D468Y;ENSP00000441748:D468Y;ENSP00000441400:D435Y|.	ENSP00000265447:D468Y|.	D|W	-|-	1|3	0|0	ANXA11|ANXA11	81907433|81907433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	7.361000|7.361000	0.79497|0.79497	2.575000|2.575000	0.86900|0.86900	0.561000|0.561000	0.74099|0.74099	GAC|TGG		0.577	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		7	93	1	0	0.0293803	1	0.030019	7	93				
MYH2	4620	broad.mit.edu	37	17	10432357	10432357	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10432357G>A	ENST00000245503.5	-	27	3778	c.3394C>T	c.(3394-3396)Cgg>Tgg	p.R1132W	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1132					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGGAGGCCCGCTCTGCCTCG	0.602																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3394-3396)Cgg>Tgg		myosin, heavy chain 2, skeletal muscle, adult							35.0	40.0	38.0					17																	10432357		2201	4293	6494	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432357G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3394C>T	17.37:g.10432357G>A	ENSP00000245503:p.Arg1132Trp					MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	p.R1132W	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3778	-			1132					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3394C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269677	0.59540	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83992	-1.79;-1.79	5.09	0.501	0.16925	Myosin tail (1);	0.000000	0.35970	U	0.002868	D	0.93661	0.7975	H	0.98218	4.175	0.46149	D	0.99889	D	0.89917	1.0	D	0.74023	0.982	D	0.94552	0.7754	10	0.87932	D	0	.	14.4426	0.67327	0.0:0.0:0.4925:0.5075	.	1132	Q9UKX2	MYH2_HUMAN	W	1132	ENSP00000245503:R1132W;ENSP00000380367:R1132W	ENSP00000245503:R1132W	R	-	1	2	MYH2	10373082	0.872000	0.30054	0.998000	0.56505	0.982000	0.71751	-0.101000	0.10973	-0.004000	0.14419	0.591000	0.81541	CGG		0.602	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		52	107	0	0	0	1	0	52	107				
ABCC4	10257	broad.mit.edu	37	13	95862991	95862991	+	Silent	SNP	G	G	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr13:95862991G>C	ENST00000376887.4	-	5	690	c.576C>G	c.(574-576)ggC>ggG	p.G192G	ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	192	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGACTATCTGGCCTGTGGTTG	0.438																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(574-576)ggC>ggG		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						177.0	133.0	148.0					13																	95862991		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:95862991G>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.576C>G	13.37:g.95862991G>C						ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000412704.1_Silent_p.G192G	p.G192G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			5	690	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		192			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.576C>G	CCDS9474.1																																																																																				0.438	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		6	42	0	0	0	1	0	6	42				
OR56A1	120796	broad.mit.edu	37	11	6048227	6048227	+	Silent	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:6048227T>C	ENST00000316650.5	-	1	744	c.708A>G	c.(706-708)aaA>aaG	p.K236K		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTCTGCTTTGAATCTAA	0.488																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(706-708)aaA>aaG		olfactory receptor, family 56, subfamily A, member 1							45.0	45.0	45.0					11																	6048227		2201	4296	6497	SO:0001819	synonymous_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048227T>C	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.708A>G	11.37:g.6048227T>C							p.K236K	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	744	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	236					B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	c.708A>G	CCDS31405.1																																																																																				0.488	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		37	51	0	0	0	1	0	37	51				
THEMIS	387357	broad.mit.edu	37	6	128134734	128134734	+	Missense_Mutation	SNP	G	G	A	rs200529297		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:128134734G>A	ENST00000368248.2	-	4	1200	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M|THEMIS_ENST00000368250.1_Missense_Mutation_p.T272M	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	351	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCATAGGCCGTTGGGAACTC	0.473																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(814-816)aCg>aTg		thymocyte selection associated							90.0	93.0	92.0					6																	128134734		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134734G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1052C>T	6.37:g.128134734G>A	ENSP00000357231:p.Thr351Met					THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M|THEMIS_ENST00000368248.2_Missense_Mutation_p.T351M	p.T272M			Q8N1K5	THMS1_HUMAN			5	1313	-			351			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.815C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775867	0.70107	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.82323	2.585	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.49688	-0.8913	10	0.62326	D	0.03	-16.7754	19.5143	0.95157	0.0:0.0:1.0:0.0	.	351;351	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	272;351;351;316;119	ENSP00000357233:T272M;ENSP00000439594:T351M;ENSP00000357231:T351M;ENSP00000439863:T316M;ENSP00000387740:T119M	ENSP00000357231:T351M	T	-	2	0	THEMIS	128176427	1.000000	0.71417	0.946000	0.38457	0.988000	0.76386	7.842000	0.86851	2.614000	0.88457	0.462000	0.41574	ACG		0.473	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		16	144	0	0	0	1	0	16	144				
LPO	4025	broad.mit.edu	37	17	56343598	56343598	+	Missense_Mutation	SNP	G	G	A	rs144914036		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:56343598G>A	ENST00000262290.4	+	11	1920	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	LPO_ENST00000543544.1_Missense_Mutation_p.R476H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000421678.2_Missense_Mutation_p.R452H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	535					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.R535H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGAGCTGCGCAACAAGCTT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.001					ENST00000262290.4																			1	Substitution - Missense(1)	p.R535H(1)	large_intestine(1)	breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1603-1605)cGc>cAc		lactoperoxidase		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	57.0	60.0		1355,1604	5.1	1.0	17	dbSNP_134	60	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	LPO	NM_001160102.1,NM_006151.2	29,29	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging,probably-damaging	452/630,535/713	56343598	6,13000	2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56343598G>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1604G>A	17.37:g.56343598G>A	ENSP00000262290:p.Arg535His					LPO_ENST00000421678.2_Missense_Mutation_p.R452H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000543544.1_Missense_Mutation_p.R476H	p.R535H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			11	1920	+			535					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1604G>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301331	0.81136	2.27E-4	5.81E-4	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71222	-0.55;-0.55;-0.55	6.06	5.08	0.68730	.	0.212137	0.46442	D	0.000298	D	0.84647	0.5518	M	0.89904	3.07	0.44619	D	0.99759	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	D	0.85488	0.1183	10	0.51188	T	0.08	-18.0602	8.3164	0.32102	0.0805:0.3021:0.6174:0.0	.	452;535	E7EMJ3;P22079	.;PERL_HUMAN	H	535;452;476;280	ENSP00000262290:R535H;ENSP00000400245:R452H;ENSP00000445344:R476H	ENSP00000262290:R535H	R	+	2	0	LPO	53698597	0.998000	0.40836	0.986000	0.45419	0.995000	0.86356	1.205000	0.32308	1.532000	0.49169	0.655000	0.94253	CGC		0.547	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			6	70	0	0	0	1	0	6	70				
KIAA1549L	25758	broad.mit.edu	37	11	33581376	33581376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:33581376G>A	ENST00000321505.4	+	6	3226	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1016						integral component of membrane (GO:0016021)											CAACGGCACCGTCGCCAGCAG	0.567																																						ENST00000321505.4																			0											c.(3046-3048)Gtc>Atc		KIAA1549-like							108.0	113.0	111.0					11																	33581376		2145	4243	6388	SO:0001583	missense	25758							g.chr11:33581376G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3046G>A	11.37:g.33581376G>A	ENSP00000315295:p.Val1016Ile					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I	p.V1016I							6	3226	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3046G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741681	0.30865	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.41	4.48	0.54585	.	0.382410	0.29073	N	0.013222	T	0.23766	0.0575	L	0.33485	1.01	0.09310	N	1	P;P	0.44986	0.847;0.484	B;B	0.37451	0.25;0.108	T	0.09207	-1.0685	9	0.23302	T	0.38	-12.4527	10.2632	0.43438	0.2121:0.0:0.7879:0.0	.	1022;1022	E9PAT2;Q6ZVL6-2	.;.	I	1016;1022;1022;855	.	ENSP00000265654:V1022I	V	+	1	0	C11orf41	33537952	0.339000	0.24784	0.054000	0.19295	0.858000	0.48976	1.605000	0.36815	1.396000	0.46663	0.567000	0.79289	GTC		0.567	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		15	219	0	0	0	1	0	15	219				
CHD6	84181	broad.mit.edu	37	20	40192693	40192693	+	Intron	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr20:40192693G>A	ENST00000373233.3	-	2	155				CHD6_ENST00000309279.7_Intron|CHD6_ENST00000373222.3_Missense_Mutation_p.T32M	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				gaacacaagcgttgtgggatt	0.408																																						ENST00000373222.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(94-96)aCg>aTg		chromodomain helicase DNA binding protein 6							53.0	50.0	51.0					20																	40192693		876	1991	2867	SO:0001627	intron_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40192693G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.23-12694C>T	20.37:g.40192693G>A						CHD6_ENST00000373233.3_Intron|CHD6_ENST00000309279.7_Intron	p.T32M			Q8TD26	CHD6_HUMAN			2	133	-		Myeloproliferative disorder(115;0.00425)	2343					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.95C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.068126	0.20067	.	.	ENSG00000124177	ENST00000373222	T	0.81163	-1.46	3.43	-2.27	0.06846	.	.	.	.	.	T	0.60353	0.2262	.	.	.	0.09310	N	1	P	0.42039	0.769	B	0.30646	0.118	T	0.53899	-0.8373	8	0.59425	D	0.04	.	2.761	0.05306	0.316:0.0:0.3451:0.3388	.	32	Q8TD26-2	.	M	32	ENSP00000362319:T32M	ENSP00000362319:T32M	T	-	2	0	CHD6	39626107	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.554000	0.06006	-0.424000	0.07382	-0.137000	0.14449	ACG		0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			10	29	0	0	0	1	0	10	29				
FAM47C	442444	broad.mit.edu	37	X	37026830	37026830	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:37026830C>T	ENST00000358047.3	+	1	399	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	116										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCACGGAAGGCGTTCGTAGAG	0.547																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(346-348)gCg>gTg		family with sequence similarity 47, member C							93.0	85.0	88.0					X																	37026830		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026830C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.347C>T	X.37:g.37026830C>T	ENSP00000367913:p.Ala116Val						p.A116V	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	399	+			116					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.347C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	3.282	-0.146861	0.06627	.	.	ENSG00000198173	ENST00000358047	T	0.20069	2.1	0.502	-1.0	0.10196	.	.	.	.	.	T	0.10766	0.0263	L	0.28694	0.88	0.09310	N	1	P	0.37122	0.583	B	0.31614	0.133	T	0.12319	-1.0552	9	0.46703	T	0.11	.	2.1461	0.03788	0.4845:0.2644:0.0:0.2511	.	116	Q5HY64	FA47C_HUMAN	V	116	ENSP00000367913:A116V	ENSP00000367913:A116V	A	+	2	0	FAM47C	36936751	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.832000	0.04400	-1.515000	0.01784	-0.713000	0.03633	GCG		0.547	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		22	77	0	0	0	1	0	22	77				
TG	7038	broad.mit.edu	37	8	133925308	133925308	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:133925308C>T	ENST00000220616.4	+	20	4216	c.4176C>T	c.(4174-4176)ggC>ggT	p.G1392G	TG_ENST00000377869.1_Silent_p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1392					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGTGGGCAAGGATCTCC	0.557																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4174-4176)ggC>ggT		thyroglobulin							87.0	76.0	80.0					8																	133925308		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925308C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4176C>T	8.37:g.133925308C>T						TG_ENST00000377869.1_Silent_p.G1392G	p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4216	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1392					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4176C>T	CCDS34944.1																																																																																				0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		27	43	0	0	0	1	0	27	43				
TRPM2	7226	broad.mit.edu	37	21	45846600	45846600	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr21:45846600G>A	ENST00000397928.1	+	26	4298	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1285					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACGCGGCCGCCATGGACCC	0.592																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3853-3855)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 2							64.0	71.0	69.0					21																	45846600		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45846600G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3853G>A	21.37:g.45846600G>A	ENSP00000381023:p.Ala1285Thr					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T	p.A1285T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			26	4298	+			1285					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3853G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	0.939	-0.710034	0.03230	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.46	-8.55	0.00908	NUDIX hydrolase domain-like (1);	2.167450	0.02664	N	0.107872	T	0.52613	0.1745	N	0.20986	0.625	0.09310	N	1	B;B;B	0.17852	0.01;0.024;0.01	B;B;B	0.11329	0.006;0.001;0.003	T	0.34204	-0.9838	10	0.33940	T	0.23	-2.3686	2.5774	0.04809	0.4581:0.2326:0.2075:0.1018	.	1335;1071;1285	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	T	1285;1285;1265;1335;63	ENSP00000300482:A1285T;ENSP00000381023:A1285T;ENSP00000300481:A1265T;ENSP00000381026:A1335T	ENSP00000300481:A1265T	A	+	1	0	TRPM2	44671028	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.427000	0.02441	-1.684000	0.01443	-0.126000	0.14955	GCC		0.592	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		6	141	0	0	0	1	0	6	141				
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4156-4158)Cgc>Tgc		myosin, heavy chain 13, skeletal muscle							139.0	134.0	136.0					17																	10216500		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216500G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4156C>T	17.37:g.10216500G>A	ENSP00000404570:p.Arg1386Cys					MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C|MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C	p.R1386C			Q9UKX3	MYH13_HUMAN			29	4319	-			1386					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4156C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583801	0.46006	.	.	ENSG00000006788	ENST00000252172	T	0.81078	-1.45	3.96	3.96	0.45880	Myosin tail (1);	.	.	.	.	D	0.90363	0.6984	H	0.95043	3.615	0.46317	D	0.998982	B	0.30361	0.277	P	0.47376	0.545	D	0.91917	0.5544	9	0.87932	D	0	.	12.2372	0.54522	0.0868:0.0:0.9132:0.0	.	1386	Q9UKX3	MYH13_HUMAN	C	1386	ENSP00000252172:R1386C	ENSP00000252172:R1386C	R	-	1	0	MYH13	10157225	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.132000	0.31418	2.207000	0.71202	0.462000	0.41574	CGC		0.617	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		9	274	0	0	0	1	0	9	274				
FCRL3	115352	broad.mit.edu	37	1	157666077	157666077	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:157666077G>A	ENST00000368184.3	-	7	1176	c.885C>T	c.(883-885)acC>acT	p.T295T	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T295T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	295	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T295T(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTGCCCTCCGGTGGGCCGGA	0.517																																						ENST00000368184.3																			1	Substitution - coding silent(1)	p.T295T(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(883-885)acC>acT		Fc receptor-like 3							95.0	91.0	93.0					1																	157666077		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666077G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.885C>T	1.37:g.157666077G>A						RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.T295T|FCRL3_ENST00000473231.1_5'UTR	p.T295T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1176	-	all_hematologic(112;0.0378)		295			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.885C>T	CCDS1167.1																																																																																				0.517	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		16	157	0	0	0	1	0	16	157				
OPN5	221391	broad.mit.edu	37	6	47776029	47776029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:47776029C>T	ENST00000371211.2	+	5	924	c.896C>T	c.(895-897)gCg>gTg	p.A299V	OPN5_ENST00000489301.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAATCTGCAGCGATGTACAAT	0.453																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(895-897)gCg>gTg		opsin 5							232.0	213.0	219.0					6																	47776029		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47776029C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.896C>T	6.37:g.47776029C>T	ENSP00000360255:p.Ala299Val					OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V	p.A299V			Q6U736	OPN5_HUMAN			5	981	+			299					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.896C>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658603	0.88154	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.72835	-0.69;-0.69;-0.69	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.047393	0.85682	D	0.000000	T	0.69575	0.3126	L	0.55213	1.73	0.58432	D	0.999998	D	0.55800	0.973	P	0.49597	0.616	T	0.73483	-0.3968	10	0.66056	D	0.02	.	19.333	0.94299	0.0:1.0:0.0:0.0	.	299	Q6U736	OPN5_HUMAN	V	299	ENSP00000426991:A299V;ENSP00000360255:A299V;ENSP00000377302:A299V	ENSP00000360255:A299V	A	+	2	0	OPN5	47883988	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.445000	0.80570	2.644000	0.89710	0.655000	0.94253	GCG		0.453	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		58	129	0	0	0	1	0	58	129				
PPP1R3A	5506	broad.mit.edu	37	7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:113518488C>A	ENST00000284601.3	-	4	2727	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	887					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGATAATTCTTGAACCTGC	0.363																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2659-2661)Gaa>Taa		protein phosphatase 1, regulatory subunit 3A							86.0	83.0	84.0					7																	113518488		2202	4299	6501	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113518488C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2659G>T	7.37:g.113518488C>A	ENSP00000284601:p.Glu887*						p.E887*	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2727	-			887					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.2659G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028904	0.75504	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.81	3.0	0.34707	.	0.509628	0.19051	N	0.124031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.6972	7.241	0.26096	0.0:0.7121:0.1404:0.1475	.	.	.	.	X	887	.	ENSP00000284601:E887X	E	-	1	0	PPP1R3A	113305724	0.537000	0.26386	1.000000	0.80357	0.148000	0.21650	0.790000	0.26900	0.768000	0.33290	0.650000	0.86243	GAA		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		5	96	1	0	0.184627	1	0.184627	5	96				
MAGI3	260425	broad.mit.edu	37	1	114201721	114201721	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:114201721C>T	ENST00000307546.9	+	16	2724	c.2649C>T	c.(2647-2649)ggC>ggT	p.G883G	MAGI3_ENST00000369615.1_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G|MAGI3_ENST00000369617.4_Silent_p.G908G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	908	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAATTGGCCGAGTCATAG	0.378																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2647-2649)ggC>ggT		membrane associated guanylate kinase, WW and PDZ domain containing 3							94.0	98.0	97.0					1																	114201721		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114201721C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2649C>T	1.37:g.114201721C>T						MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G	p.G883G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2711	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	908			Interaction with LPAR2 and GRIN2B.|PDZ 5.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2649C>T	CCDS44196.1																																																																																				0.378	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	111	0	0	0	1	0	4	111				
HNRNPD	3184	broad.mit.edu	37	4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:83280638C>A	ENST00000313899.7	-	3	722	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	149	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTACACTCTCCGATTCTTTA	0.358																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(445-447)Gag>Tag		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							94.0	91.0	92.0					4																	83280638		2203	4300	6503	SO:0001587	stop_gained	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280638C>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.445G>T	4.37:g.83280638C>A	ENSP00000313199:p.Glu149*					HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*|HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron	p.E149*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			3	722	-			149			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Nonsense_Mutation	SNP	ENST00000313899.7	37	c.445G>T	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.498932|6.498932	0.97616|0.97616	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822|ENST00000514671	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77205	.|0.4096	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73742	.|-0.3887	.|4	0.40728|.	T|.	0.16|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	149;149;130;97;124;82;149;51;130|52	.|.	ENSP00000307544:E124X|.	E|G	-|-	1|2	0|0	HNRNPD|HNRNPD	83499662|83499662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.368000|7.368000	0.79567|0.79567	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		11	96	1	0	4.3838e-07	1	4.6827e-07	11	96				
SCN11A	11280	broad.mit.edu	37	3	38962717	38962717	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:38962717G>A	ENST00000302328.3	-	6	940	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R248C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	248					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCACAGAGCGTAGCAAGGCC	0.537																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(742-744)Cgc>Tgc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						113.0	109.0	110.0					3																	38962717		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38962717G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.742C>T	3.37:g.38962717G>A	ENSP00000307599:p.Arg248Cys					SCN11A_ENST00000302328.3_Missense_Mutation_p.R248C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C	p.R248C			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	6	940	-			248					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.742C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617954	0.87359	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	4.67	4.67	0.58626	Ion transport (1);	0.217778	0.42964	D	0.000631	D	0.98804	0.9597	M	0.74389	2.26	0.49582	D	0.999803	D	0.76494	0.999	D	0.63597	0.916	D	0.99301	1.0901	10	0.54805	T	0.06	.	15.1097	0.72346	0.0:0.0:1.0:0.0	.	248	Q9UI33	SCNBA_HUMAN	C	248	ENSP00000307599:R248C;ENSP00000400945:R248C;ENSP00000416757:R248C;ENSP00000408028:R248C	ENSP00000307599:R248C	R	-	1	0	SCN11A	38937721	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.423000	0.80229	2.147000	0.66899	0.585000	0.79938	CGC		0.537	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		8	221	0	0	0	1	0	8	221				
CERK	64781	broad.mit.edu	37	22	47095220	47095220	+	Silent	SNP	G	G	A	rs377639952		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:47095220G>A	ENST00000216264.8	-	8	1045	c.933C>T	c.(931-933)taC>taT	p.Y311Y	CERK_ENST00000541677.1_Silent_p.Y113Y	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	311					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGAAAAGTCGTATCTGGCAA	0.552																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(931-933)taC>taT		ceramide kinase		G		1,4405	2.1+/-5.4	0,1,2202	215.0	157.0	177.0		933	1.3	1.0	22		177	0,8600		0,0,4300	no	coding-synonymous	CERK	NM_022766.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		311/538	47095220	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47095220G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.933C>T	22.37:g.47095220G>A						CERK_ENST00000541677.1_Silent_p.Y113Y	p.Y311Y	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	8	1045	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	311					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.933C>T	CCDS14077.1																																																																																				0.552	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		17	127	0	0	0	1	0	17	127				
DPYSL5	56896	broad.mit.edu	37	2	27169828	27169828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:27169828G>A	ENST00000288699.6	+	13	1818	c.1660G>A	c.(1660-1662)Gct>Act	p.A554T	DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	554					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGATCCTCGCTCCTCCCGG	0.617																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1660-1662)Gct>Act		dihydropyrimidinase-like 5							89.0	71.0	77.0					2																	27169828		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27169828G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1660G>A	2.37:g.27169828G>A	ENSP00000288699:p.Ala554Thr					DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T	p.A554T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			13	1818	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		554					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1660G>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	g	35	5.448477	0.96205	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.86164	-2.08;-2.08	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.87381	2.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.66084	0.941	D	0.93866	0.7158	10	0.49607	T	0.09	-21.5054	18.5156	0.90935	0.0:0.0:1.0:0.0	.	554	Q9BPU6	DPYL5_HUMAN	T	554	ENSP00000288699:A554T;ENSP00000385549:A554T	ENSP00000288699:A554T	A	+	1	0	DPYSL5	27023332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.607000	0.98328	2.680000	0.91292	0.542000	0.68232	GCT		0.617	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		10	37	0	0	0	1	0	10	37				
CACNA1A	773	broad.mit.edu	37	19	13423557	13423557	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:13423557C>T	ENST00000360228.5	-	12	1593	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.E533K(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATAAACATTTCGGACATAAAG	0.458																																						ENST00000360228.5																			2	Substitution - Missense(2)	p.E533K(2)	large_intestine(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42	GRCh37	CM065992	CACNA1A	M		c.(1594-1596)Gaa>Aaa		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						75.0	72.0	73.0					19																	13423557		1850	4099	5949	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423557C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1594G>A	19.37:g.13423557C>T	ENSP00000353362:p.Glu532Lys					CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	p.E532K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1593	-			533					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1594G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349644	0.82132	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98822	-5.16	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99273	4.495	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.994;0.988	D	0.97583	1.0112	10	0.87932	D	0	.	17.6776	0.88235	0.0:1.0:0.0:0.0	.	533;533;532	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	532;533;533;533	ENSP00000353362:E532K	ENSP00000317661:E533K	E	-	1	0	CACNA1A	13284557	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.529000	0.85273	0.650000	0.86243	GAA		0.458	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	64	0	0	0	1	0	4	64				
PCDH11Y	83259	broad.mit.edu	37	Y	4925416	4925416	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrY:4925416G>A	ENST00000333703.4	+	4	1032	c.519G>A	c.(517-519)tcG>tcA	p.S173S	PCDH11Y_ENST00000362095.5_Silent_p.S184S|PCDH11Y_ENST00000215473.6_Silent_p.S184S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	184	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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGAGAACTCGGCTATAAACT	0.363																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(517-519)tcG>tcA		protocadherin 11 Y-linked							15.0	14.0	14.0					Y																	4925416		619	1907	2526	SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925416G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.519G>A	Y.37:g.4925416G>A						PCDH11Y_ENST00000215473.6_Silent_p.S184S|PCDH11Y_ENST00000362095.5_Silent_p.S184S	p.S173S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			4	1032	+			184			Cadherin 2.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.519G>A	CCDS14776.1																																																																																				0.363	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		5	45	0	0	0	1	0	5	45				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			0							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	51	0	0	0	1	0	5	51				
SPRR1A	6698	broad.mit.edu	37	1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:152957847G>T	ENST00000368762.1	+	1	141	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SPRR1A_ENST00000307122.2_Missense_Mutation_p.E47D			P35321	SPR1A_HUMAN	small proline-rich protein 1A	47	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCTGAGCCCTGCCACC	0.642																																						ENST00000307122.2																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7						c.(139-141)gaG>gaT		small proline-rich protein 1A							120.0	120.0	120.0					1																	152957847		2203	4300	6503	SO:0001583	missense	6698				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152957847G>T	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.141G>T	1.37:g.152957847G>T	ENSP00000357751:p.Glu47Asp					SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D	p.E47D	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	205	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			6 X 8 AA approximate tandem repeats.		B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	c.141G>T	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647613	0.67358	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.13196	2.61;2.61	5.49	4.57	0.56435	.	0.000000	0.37136	N	0.002230	T	0.20700	0.0498	.	.	.	0.26270	N	0.978433	D	0.76494	0.999	D	0.80764	0.994	T	0.06445	-1.0826	9	0.59425	D	0.04	-12.4325	10.2524	0.43377	0.0917:0.0:0.9083:0.0	.	47	P35321	SPR1A_HUMAN	D	47	ENSP00000307340:E47D;ENSP00000357751:E47D	ENSP00000307340:E47D	E	+	3	2	SPRR1A	151224471	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.450000	0.60041	1.320000	0.45209	0.555000	0.69702	GAG		0.642	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987		21	250	1	0	2.4624e-09	1	2.69146e-09	21	250				
SLAMF6	114836	broad.mit.edu	37	1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:160466146C>T	ENST00000368057.3	-	2	147	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_ENST00000368059.3_Missense_Mutation_p.M29I|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6	29						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCGTTCACCATCAATGGGG	0.458																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(85-87)atG>atA		SLAM family member 6							162.0	162.0	162.0					1																	160466146		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466146C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.87G>A	1.37:g.160466146C>T	ENSP00000357036:p.Met29Ile					SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I	p.M29I	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	156	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		29					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.87G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	3.537	-0.094577	0.07053	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.21361	2.01;2.01	4.95	-4.54	0.03452	Immunoglobulin subtype (1);Immunoglobulin V-set (1);	1.387830	0.04729	N	0.420899	T	0.02342	0.0072	L	0.28192	0.835	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.33214	-0.9877	10	0.08837	T	0.75	0.3789	0.8089	0.01089	0.2617:0.2144:0.1205:0.4034	.	29;29	Q96DU3;B2R8X8	SLAF6_HUMAN;.	I	29	ENSP00000357038:M29I;ENSP00000357036:M29I	ENSP00000357036:M29I	M	-	3	0	SLAMF6	158732770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.717000	0.04986	-1.283000	0.02393	-0.768000	0.03414	ATG		0.458	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		8	283	0	0	0	1	0	8	283				
ADAM23	8745	broad.mit.edu	37	2	207435477	207435477	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:207435477C>T	ENST00000264377.3	+	16	1836	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M|ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	503	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTTGAGCCCACGGAATGTGGA	0.418																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1507-1509)aCg>aTg		ADAM metallopeptidase domain 23							192.0	175.0	181.0					2																	207435477		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207435477C>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1508C>T	2.37:g.207435477C>T	ENSP00000264377:p.Thr503Met					ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M|ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M	p.T503M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	16	1836	+			503			Disintegrin.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1508C>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455658	0.84209	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.02015	4.51;4.5;4.51	5.91	5.91	0.95273	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.13072	0.0317	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.00014	-1.2406	10	0.87932	D	0	.	19.8897	0.96925	0.0:1.0:0.0:0.0	.	503	O75077	ADA23_HUMAN	M	503;503;397;503	ENSP00000264377:T503M;ENSP00000363537:T503M;ENSP00000363536:T503M	ENSP00000264377:T503M	T	+	2	0	ADAM23	207143722	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.521000	0.73778	2.804000	0.96469	0.462000	0.41574	ACG		0.418	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		7	51	0	0	0	1	0	7	51				
CSF2RA	1438	broad.mit.edu	37	X	1401455	1401455	+	Splice_Site	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:1401455T>G	ENST00000432318.2	+	3	296		c.e3+2		CSF2RA_ENST00000417535.2_5'Flank|CSF2RA_ENST00000381500.1_5'Flank|CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381524.3_Intron|CSF2RA_ENST00000355805.2_Intron	NM_001161529.1	NP_001155001.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTTGACCAGGTCAGCGGCTGA	0.557																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000432318.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.e3+2		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)																																			SO:0001630	splice_region_variant	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1401455T>G	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000432318.2:c.-27+2T>G	X.37:g.1401455T>G						CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000381524.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000381509.3_Intron		NM_001161529.1	NP_001155001.1	P15509	CSF2R_HUMAN			3	296	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Splice_Site	SNP	ENST00000432318.2	37		CCDS35191.1																																																																																				0.557	CSF2RA-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			Intron	18	34	0	0	0	1	0	18	34				
TNF	7124	broad.mit.edu	37	6	31544556	31544556	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:31544556G>A	ENST00000449264.2	+	3	420	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	82					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	TCATCTTCTCGAACCCCGAGT	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000449264.2																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8						c.(244-246)cGa>cAa		tumor necrosis factor	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						177.0	182.0	181.0					6																	31544556		1511	2709	4220	SO:0001583	missense	7124	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31544556G>A	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.245G>A	6.37:g.31544556G>A	ENSP00000398698:p.Arg82Gln						p.R82Q	NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN			3	420	+		Ovarian(999;0.00556)	82					O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	c.245G>A	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	G	3.425	-0.117247	0.06838	.	.	ENSG00000232810	ENST00000449264	D	0.85629	-2.01	4.62	-0.254	0.12992	Tumour necrosis factor-like (1);	2.127950	0.02592	N	0.100069	T	0.45013	0.1321	N	0.04705	-0.18	0.09310	N	0.999992	B	0.13145	0.007	B	0.08055	0.003	T	0.47736	-0.9094	10	0.11182	T	0.66	.	7.0418	0.25025	0.6791:0.0:0.3209:0.0	.	82	P01375	TNFA_HUMAN	Q	82	ENSP00000398698:R82Q	ENSP00000398698:R82Q	R	+	2	0	TNF	31652535	0.127000	0.22367	0.305000	0.25099	0.968000	0.65278	0.222000	0.17699	0.073000	0.16731	0.655000	0.94253	CGA		0.502	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			16	201	0	0	0	1	0	16	201				
CAPRIN2	65981	broad.mit.edu	37	12	30867973	30867973	+	Missense_Mutation	SNP	T	T	A	rs534484327		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr12:30867973T>A	ENST00000395805.2	-	14	2949	c.2402A>T	c.(2401-2403)aAt>aTt	p.N801I	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.N857I	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCCGGCTATTGACAAATGG	0.438																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2569-2571)aAt>aTt		caprin family member 2							142.0	134.0	137.0					12																	30867973		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30867973T>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2402A>T	12.37:g.30867973T>A	ENSP00000379150:p.Asn801Ile					CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I	p.N857I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			15	3320	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		857						Missense_Mutation	SNP	ENST00000395805.2	37	c.2570A>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668702	0.47677	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.54	-5.33	0.02713	.	0.744650	0.13375	N	0.392571	T	0.21550	0.0519	L	0.47190	1.495	0.18873	N	0.999982	P;P;P;B;P	0.45715	0.642;0.865;0.551;0.435;0.551	B;B;B;B;B	0.42882	0.25;0.401;0.239;0.116;0.239	T	0.19257	-1.0311	10	0.87932	D	0	-0.3039	11.7206	0.51680	0.0:0.5909:0.1056:0.3036	.	801;856;857;807;856	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	I	602;807;801;857;523;856	ENSP00000415407:N602I;ENSP00000298892:N807I;ENSP00000379150:N801I;ENSP00000251071:N857I;ENSP00000309785:N523I;ENSP00000391479:N856I	ENSP00000251071:N857I	N	-	2	0	CAPRIN2	30759240	0.018000	0.18449	0.042000	0.18584	0.966000	0.64601	-0.387000	0.07361	-0.916000	0.03818	0.533000	0.62120	AAT		0.438	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		4	135	0	0	0	1	0	4	135				
GGN	199720	broad.mit.edu	37	19	38876987	38876987	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:38876987A>G	ENST00000334928.6	-	3	1047	c.915T>C	c.(913-915)gtT>gtC	p.V305V	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	305	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCTCGAGAAACCTCTCCCA	0.697																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(913-915)gtT>gtC		gametogenetin							14.0	17.0	16.0					19																	38876987		2191	4276	6467	SO:0001819	synonymous_variant	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876987A>G	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.915T>C	19.37:g.38876987A>G						GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	p.V305V	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1047	-	all_cancers(60;3.4e-06)		305			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	c.915T>C	CCDS12516.1																																																																																				0.697	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		4	39	0	0	0	1	0	4	39				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'Flank|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		3	56	0	0	0	1	0	3	56				
PLIN5	440503	broad.mit.edu	37	19	4529255	4529255	+	Missense_Mutation	SNP	G	G	A	rs140507757	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:4529255G>A	ENST00000381848.3	-	5	430	c.350C>T	c.(349-351)tCa>tTa	p.S117L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	117	Essential for lipid droplet targeting. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCCTTGGCTGAGGTCACCAC	0.667																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(349-351)tCa>tTa		perilipin 5							42.0	50.0	47.0					19																	4529255		2061	4201	6262	SO:0001583	missense	440503					lipid particle		g.chr19:4529255G>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.350C>T	19.37:g.4529255G>A	ENSP00000371272:p.Ser117Leu					CTB-50L17.14_ENST00000586020.1_3'UTR	p.S117L	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			5	430	-			117					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.350C>T	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.220497	0.58560	.	.	ENSG00000214456	ENST00000381848	T	0.06768	3.26	4.83	4.83	0.62350	.	1.260730	0.05973	U	0.642721	T	0.22282	0.0537	M	0.76170	2.325	0.80722	D	1	P	0.38300	0.626	P	0.45232	0.474	T	0.01753	-1.1281	10	0.66056	D	0.02	-11.2824	13.401	0.60883	0.0:0.0:1.0:0.0	.	117	Q00G26	PLIN5_HUMAN	L	117	ENSP00000371272:S117L	ENSP00000371272:S117L	S	-	2	0	PLIN5	4480255	0.978000	0.34361	0.994000	0.49952	0.374000	0.29953	2.839000	0.48207	2.252000	0.74401	0.561000	0.74099	TCA		0.667	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		9	137	0	0	0	1	0	9	137				
ARHGAP39	80728	broad.mit.edu	37	8	145773444	145773444	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:145773444G>A	ENST00000276826.5	-	4	1227	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_ENST00000377307.2_Silent_p.A342A|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.A342A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	342	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGAGAGCCGGCCTGGTAGC	0.706																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1024-1026)gcC>gcT		Rho GTPase activating protein 39							14.0	17.0	16.0					8																	145773444		2078	4114	6192	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773444G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1026C>T	8.37:g.145773444G>A						ARHGAP39_ENST00000540274.1_Silent_p.A342A|ARHGAP39_ENST00000377307.2_Silent_p.A342A	p.A342A			Q9C0H5	RHG39_HUMAN			4	1227	-			342			Pro-rich.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.1026C>T																																																																																					0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			7	63	0	0	0	1	0	7	63				
ZNF35	7584	broad.mit.edu	37	3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:44700525T>C	ENST00000396056.2	+	4	905	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	224					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCCTTTTACGTGTAGCGTGTG	0.428																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(670-672)Tgt>Cgt		zinc finger protein 35							76.0	75.0	75.0					3																	44700525		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700525T>C	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.670T>C	3.37:g.44700525T>C	ENSP00000379368:p.Cys224Arg					RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R	p.C224R	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	905	+		Ovarian(412;0.0228)	224					B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.670T>C	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928432	0.52759	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.60171	0.21;0.21	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000112	D	0.82926	0.5143	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88308	0.2954	10	0.87932	D	0	-12.8516	14.0409	0.64674	0.0:0.0:0.0:1.0	.	224	P13682	ZNF35_HUMAN	R	224;64	ENSP00000379368:C224R;ENSP00000443714:C64R	ENSP00000379368:C224R	C	+	1	0	ZNF35	44675529	1.000000	0.71417	0.462000	0.27118	0.439000	0.31926	7.028000	0.76470	2.145000	0.66743	0.533000	0.62120	TGT		0.428	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		7	131	0	0	0	1	0	7	131				
BMP2K	55589	broad.mit.edu	37	4	79792152	79792152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:79792152C>T	ENST00000335016.5	+	11	1613	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	483	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcagcagca	0.507																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1447-1449)Cag>Tag		BMP2 inducible kinase							19.0	23.0	21.0					4																	79792152		2073	4047	6120	SO:0001587	stop_gained	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792152C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1447C>T	4.37:g.79792152C>T	ENSP00000334836:p.Gln483*					BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483*	p.Q483*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1613	+			483	Missing (in Ref. 2; CAB70863).		Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Nonsense_Mutation	SNP	ENST00000335016.5	37	c.1447C>T	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149711|3.149711	0.57151|0.57151	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|3.785800	.|0.00763	.|U	.|0.001140	T|.	0.11665|.	0.0284|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27706|.	-1.0066|.	2|.	.|0.05959	.|T	.|0.93	.|.	5.5339|5.5339	0.17001|0.17001	0.0:0.9999:0.0:1.0E-4|0.0:0.9999:0.0:1.0E-4	.|.	.|.	.|.	.|.	V|X	175|483;483;497	.|.	.|ENSP00000264889:Q497X	A|Q	+|+	2|1	0|0	BMP2K|BMP2K	80011176|80011176	0.999000|0.999000	0.42202|0.42202	0.139000|0.139000	0.22197|0.22197	0.047000|0.047000	0.14425|0.14425	1.064000|1.064000	0.30579|0.30579	0.161000|0.161000	0.19458|0.19458	0.163000|0.163000	0.16589|0.16589	GCA|CAG		0.507	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		6	62	0	0	0	1	0	6	62				
PID1	55022	broad.mit.edu	37	2	229890607	229890607	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:229890607C>T	ENST00000354069.6	-	3	524	c.494G>A	c.(493-495)cGc>cAc	p.R165H	PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000392055.3_Missense_Mutation_p.R132H|PID1_ENST00000392054.3_Missense_Mutation_p.R163H			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	165	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTAGGCGATGCGGGCCACCTG	0.582																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(487-489)cGc>cAc		phosphotyrosine interaction domain containing 1							139.0	128.0	132.0					2																	229890607		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890607C>T	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.494G>A	2.37:g.229890607C>T	ENSP00000283937:p.Arg165His					PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000392055.3_Missense_Mutation_p.R132H|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.R165H	p.R163H	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	827	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	165			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.488G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.168261	0.94768	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.85	5.85	0.93711	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.991;0.991;0.998;0.998	T	0.77411	-0.2598	8	.	.	.	-45.1254	19.1613	0.93533	0.0:1.0:0.0:0.0	.	83;132;163;165	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	H	163;83;132;165;165	.	.	R	-	2	0	PID1	229598851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	2.768000	0.95171	0.655000	0.94253	CGC		0.582	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		6	145	0	0	0	1	0	6	145				
TLR9	54106	broad.mit.edu	37	3	52255490	52255490	+	Missense_Mutation	SNP	G	G	A	rs369679861		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:52255490G>A	ENST00000360658.2	-	2	3475	c.2842C>T	c.(2842-2844)Cgc>Tgc	p.R948C	TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V|TLR9_ENST00000597542.1_Missense_Mutation_p.R972C	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	948	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	AAGCTGGCGCGCAAGAGACCA	0.662																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(2914-2916)Cgc>Tgc		toll-like receptor 9	Chloroquine(DB00608)	G	CYS/ARG	1,4401		0,1,2200	36.0	39.0	38.0		2842	4.9	0.7	3		38	0,8594		0,0,4297	no	missense	TLR9	NM_017442.3	180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	948/1033	52255490	1,12995	2201	4297	6498	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52255490G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2842C>T	3.37:g.52255490G>A	ENSP00000353874:p.Arg948Cys					TLR9_ENST00000360658.2_Missense_Mutation_p.R948C|TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V	p.R972C			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3871	-			948			TIR.		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2914C>T	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.084694|3.084694	0.55861|0.55861	2.27E-4|2.27E-4	0.0|0.0	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.09163	.|3.01	5.81|5.81	4.94|4.94	0.65067|0.65067	.|Toll/interleukin-1 receptor homology (TIR) domain (3);	.|0.000000	.|0.41194	.|D	.|0.000931	T|T	0.35422|0.35422	0.0931|0.0931	M|M	0.82823|0.82823	2.61|2.61	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.22626|0.22626	-1.0211|-1.0211	5|10	.|0.87932	.|D	.|0	.|.	12.6515|12.6515	0.56764|0.56764	0.0801:0.0:0.9199:0.0|0.0801:0.0:0.9199:0.0	.|.	.|1045;948	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	V|C	1101|948	.|ENSP00000353874:R948C	.|ENSP00000353874:R948C	A|R	-|-	2|1	0|0	RP11-330H6.5|TLR9	52230530|52230530	0.127000|0.127000	0.22367|0.22367	0.691000|0.691000	0.30163|0.30163	0.375000|0.375000	0.29983|0.29983	1.732000|1.732000	0.38146|0.38146	1.460000|1.460000	0.47911|0.47911	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.662	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			4	110	0	0	0	1	0	4	110				
NPC1L1	29881	broad.mit.edu	37	7	44579425	44579425	+	Missense_Mutation	SNP	C	C	T	rs146842539		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:44579425C>T	ENST00000289547.4	-	2	626	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	191					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGCCATACACGCCACACATG	0.612																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(571-573)Gtg>Atg		NPC1-like 1	Ezetimibe(DB00973)	C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	64.0	68.0		571,571	5.0	1.0	7	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense	NPC1L1	NM_001101648.1,NM_013389.2	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	191/1333,191/1360	44579425	1,13005	2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579425C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.571G>A	7.37:g.44579425C>T	ENSP00000289547:p.Val191Met					NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M	p.V191M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	626	-			191					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.571G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953094	0.34471	2.27E-4	0.0	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.04	5.04	0.67666	.	0.261682	0.33980	N	0.004379	D	0.90903	0.7141	M	0.75447	2.3	0.25834	N	0.984137	D;D;B;D	0.76494	0.982;0.999;0.2;0.997	B;P;B;P	0.54401	0.28;0.751;0.018;0.487	D	0.85333	0.1091	10	0.46703	T	0.11	-39.9348	9.4913	0.38962	0.0:0.9028:0.0:0.0972	.	191;191;191;191	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	M	191	ENSP00000289547:V191M;ENSP00000370552:V191M;ENSP00000438033:V191M;ENSP00000404670:V191M	ENSP00000289547:V191M	V	-	1	0	NPC1L1	44545950	0.424000	0.25490	0.992000	0.48379	0.899000	0.52679	2.889000	0.48601	2.344000	0.79699	0.455000	0.32223	GTG		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		5	98	0	0	0	1	0	5	98				
MUC15	143662	broad.mit.edu	37	11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26586841C>T	ENST00000455601.2	-	2	683	c.565G>A	c.(565-567)Gga>Aga	p.G189R	MUC15_ENST00000436318.2_Missense_Mutation_p.G216R|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	189					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAAGCCATCCACTTGGTTCC	0.413																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(646-648)Gga>Aga		mucin 15, cell surface associated							128.0	124.0	126.0					11																	26586841		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586841C>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.565G>A	11.37:g.26586841C>T	ENSP00000397339:p.Gly189Arg					MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R	p.G216R			Q8N387	MUC15_HUMAN			2	779	-			189					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.646G>A	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390849	0.25118	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.29917	1.67;1.63;1.55;1.63;1.55	4.46	1.35	0.21983	.	1.705140	0.03458	N	0.211773	T	0.20129	0.0484	L	0.38175	1.15	0.09310	N	1	B;B;B	0.32031	0.352;0.037;0.037	B;B;B	0.29176	0.099;0.012;0.012	T	0.12192	-1.0557	10	0.05721	T	0.95	-6.1003	4.6553	0.12615	0.0:0.6:0.1796:0.2204	.	216;189;216	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	R	189;216;216;216;216	ENSP00000397339:G189R;ENSP00000416753:G216R;ENSP00000281268:G216R;ENSP00000431983:G216R;ENSP00000431945:G216R	ENSP00000281268:G216R	G	-	1	0	MUC15	26543417	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	0.162000	0.16501	0.159000	0.19401	0.650000	0.86243	GGA		0.413	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		7	107	0	0	0	1	0	7	107				
SEC14L5	9717	broad.mit.edu	37	16	5038194	5038194	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:5038194G>A	ENST00000251170.7	+	4	438	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	86	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAACATCTTGAACTGGAAGG	0.622																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(256-258)ttG>ttA		SEC14-like 5 (S. cerevisiae)							56.0	58.0	57.0					16																	5038194		2152	4255	6407	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5038194G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.258G>A	16.37:g.5038194G>A							p.L86L	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			4	438	+			86			PRELI/MSF1.			Silent	SNP	ENST00000251170.7	37	c.258G>A	CCDS45403.1																																																																																				0.622	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			18	35	0	0	0	1	0	18	35				
PRDM7	11105	broad.mit.edu	37	16	90160995	90160995	+	5'Flank	SNP	C	C	T	rs202147130	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:90160995C>T	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)	p.S75S(1)		lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCATGGACTCCGTGCGCTCGG	0.692																																						ENST00000564451.1																			1	Substitution - coding silent(1)	p.S75S(1)	endometrium(1)																																														SO:0001631	upstream_gene_variant	0							g.chr16:90160995C>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160995C>T	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	894	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.692	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			20	145	0	0	0	1	0	20	145				
STRIP1	85369	broad.mit.edu	37	1	110592992	110592992	+	Silent	SNP	C	C	T	rs199755654		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:110592992C>T	ENST00000369795.3	+	18	1939	c.1917C>T	c.(1915-1917)tgC>tgT	p.C639C	STRIP1_ENST00000369796.1_Silent_p.C544C	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	639					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											ACCCTCACTGCGTGGTGCATG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17782	0.0		0.0	False		,,,				2504	0.0					ENST00000369795.3																			0											c.(1915-1917)tgC>tgT		striatin interacting protein 1		C		0,4406		0,0,2203	120.0	96.0	104.0		1917	-3.5	1.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM40A	NM_033088.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		639/838	110592992	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85369							g.chr1:110592992C>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1917C>T	1.37:g.110592992C>T						STRIP1_ENST00000369796.1_Silent_p.C544C	p.C639C	NM_033088.2	NP_149079.2					18	1939	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	c.1917C>T	CCDS30798.1																																																																																				0.612	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		6	60	0	0	0	1	0	6	60				
MYLK	4638	broad.mit.edu	37	3	123456319	123456319	+	Silent	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:123456319G>T	ENST00000475616.1	-	5	659	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000360772.3_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I			Q15746	MYLK_HUMAN	myosin light chain kinase	220	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGACTCCATGGATTTCCAGAA	0.547																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(658-660)atC>atA		myosin light chain kinase							235.0	186.0	203.0					3																	123456319		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123456319G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.660C>A	3.37:g.123456319G>T						MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I	p.I220I			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	9	1038	-		Lung NSC(201;0.0496)	220			Ig-like C2-type 2.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.660C>A	CCDS46896.1																																																																																				0.547	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		9	218	1	0	1.04858e-14	1	1.17341e-14	9	218				
INTS10	55174	broad.mit.edu	37	8	19682476	19682476	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:19682476C>T	ENST00000397977.3	+	8	1397	c.999C>T	c.(997-999)ctC>ctT	p.L333L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	333					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGCCATCTCTCTTCCAAGGTT	0.398																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(997-999)ctC>ctT		integrator complex subunit 10							88.0	82.0	84.0					8																	19682476		1905	4115	6020	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19682476C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.999C>T	8.37:g.19682476C>T							p.L333L	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	8	1397	+			333					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.999C>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964609	0.18583	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.82	1.95	0.26073	.	.	.	.	.	T	0.53302	0.1788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39722	-0.9600	4	.	.	.	-15.9663	5.585	0.17269	0.3042:0.5126:0.1163:0.0668	.	.	.	.	F	109	.	.	S	+	2	0	INTS10	19726756	0.285000	0.24296	0.999000	0.59377	0.918000	0.54935	-0.414000	0.07114	0.076000	0.16826	0.467000	0.42956	TCT		0.398	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		3	52	0	0	0	1	0	3	52				
AHNAK2	113146	broad.mit.edu	37	14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr14:105407424C>G	ENST00000333244.5	-	7	14483	c.14364G>C	c.(14362-14364)gaG>gaC	p.E4788D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4788						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGTAACATCCTCACAGGGAG	0.498																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14362-14364)gaG>gaC		AHNAK nucleoprotein 2							94.0	97.0	96.0					14																	105407424		1934	4136	6070	SO:0001583	missense	113146					nucleus		g.chr14:105407424C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14364G>C	14.37:g.105407424C>G	ENSP00000353114:p.Glu4788Asp					AHNAK2_ENST00000557457.1_Intron	p.E4788D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14483	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4788					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14364G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	7.973	0.749496	0.15778	.	.	ENSG00000185567	ENST00000333244	T	0.08370	3.1	3.86	0.277	0.15668	.	.	.	.	.	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.46938	-0.9155	9	0.12766	T	0.61	.	1.451	0.02375	0.3535:0.3505:0.1296:0.1664	.	4788	Q8IVF2	AHNK2_HUMAN	D	4788	ENSP00000353114:E4788D	ENSP00000353114:E4788D	E	-	3	2	AHNAK2	104478469	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.310000	0.00517	-0.208000	0.10171	0.460000	0.39030	GAG		0.498	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	80	0	0	0	1	0	36	80				
TRIM5	85363	broad.mit.edu	37	11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:5686409C>T	ENST00000380034.3	-	8	1368	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Nonsense_Mutation_p.W371*|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	371	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCCAGGATCCAAGCAGTTTT	0.403																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1111-1113)tGg>tAg		tripartite motif containing 5							113.0	112.0	112.0					11																	5686409		2201	4297	6498	SO:0001587	stop_gained	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686409C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1112G>A	11.37:g.5686409C>T	ENSP00000369373:p.Trp371*					TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Intron	p.W371*			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1414	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	371			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Nonsense_Mutation	SNP	ENST00000380034.3	37	c.1112G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355516	0.95854	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	.	.	.	3.71	3.71	0.42584	.	0.000000	0.43579	D	0.000553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2557	0.49052	0.0:1.0:0.0:0.0	.	.	.	.	X	371	.	ENSP00000307031:W371X	W	-	2	0	TRIM5	5642985	1.000000	0.71417	0.489000	0.27452	0.125000	0.20455	4.827000	0.62723	2.374000	0.81015	0.655000	0.94253	TGG		0.403	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		7	210	0	0	0	1	0	7	210				
ANKRD19P	138649	broad.mit.edu	37	9	95599910	95599910	+	RNA	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr9:95599910T>C	ENST00000473204.1	+	0	1991							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											TTTGAACTTGTCGAACCAGAT	0.557																																						ENST00000473204.1																			0																																																			0							g.chr9:95599910T>C	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599910T>C														0	1991	+								A8K853|Q17RD3	RNA	SNP	ENST00000473204.1	37																																																																																						0.557	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		3	63	0	0	0	1	0	3	63				
EPHA3	2042	broad.mit.edu	37	3	89259294	89259294	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:89259294T>G	ENST00000336596.2	+	3	663	c.438T>G	c.(436-438)atT>atG	p.I146M	EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M|EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	146	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGACACCATTGCAGCTGATG	0.418										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(436-438)atT>atG		EPH receptor A3							153.0	142.0	146.0					3																	89259294		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259294T>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.438T>G	3.37:g.89259294T>G	ENSP00000337451:p.Ile146Met	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M	p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	663	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	146					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.438T>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046411	0.55110	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.15256	2.44;2.44;2.44	5.57	0.361	0.16107	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.93197	3.39	0.48762	D	0.9997	D;D	0.89917	0.996;1.0	D;D	0.80764	0.991;0.994	T	0.55667	-0.8105	9	.	.	.	.	10.8025	0.46497	0.0:0.3172:0.0:0.6828	.	146;146	P29320;P29320-2	EPHA3_HUMAN;.	M	146	ENSP00000337451:I146M;ENSP00000399926:I146M;ENSP00000419190:I146M	.	I	+	3	3	EPHA3	89341984	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.434000	0.21494	0.070000	0.16634	0.455000	0.32223	ATT		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		10	207	0	0	0	1	0	10	207				
MMP16	4325	broad.mit.edu	37	8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:89180005C>T	ENST00000286614.6	-	4	883	c.602G>A	c.(601-603)gGa>gAa	p.G201E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	201					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCCTCCCTCTCCATCAAAGGG	0.443																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(601-603)gGa>gAa		matrix metallopeptidase 16 (membrane-inserted)							91.0	80.0	84.0					8																	89180005		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180005C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.602G>A	8.37:g.89180005C>T	ENSP00000286614:p.Gly201Glu					MMP16_ENST00000544227.1_5'UTR	p.G201E	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			4	883	-			201					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.602G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172264	0.94807	.	.	ENSG00000156103	ENST00000286614	T	0.27557	1.66	5.5	5.5	0.81552	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.096958	0.64402	D	0.000001	T	0.72170	0.3427	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82946	-0.0205	10	0.87932	D	0	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	201;201	P51512-2;P51512	.;MMP16_HUMAN	E	201	ENSP00000286614:G201E	ENSP00000286614:G201E	G	-	2	0	MMP16	89249121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.751000	0.85126	2.602000	0.87976	0.644000	0.83932	GGA		0.443	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		36	75	0	0	0	1	0	36	75				
LIPG	9388	broad.mit.edu	37	18	47108803	47108803	+	Missense_Mutation	SNP	G	G	A	rs201407808		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr18:47108803G>A	ENST00000261292.4	+	7	1386	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	LIPG_ENST00000427224.2_Missense_Mutation_p.V296I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	370	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTTTTACGTCACCCTTTA	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		23880	0.0		0.001	False		,,,				2504	0.0				Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1108-1110)Gtc>Atc		lipase, endothelial		G	ILE/VAL	0,4406		0,0,2203	168.0	134.0	146.0		1108	5.3	0.9	18		146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LIPG	NM_006033.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	370/501	47108803	1,13005	2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47108803G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1108G>A	18.37:g.47108803G>A	ENSP00000261292:p.Val370Ile					LIPG_ENST00000427224.2_Missense_Mutation_p.V296I	p.V370I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			7	1386	+			370			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1108G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	4.298	0.054485	0.08291	0.0	1.16E-4	ENSG00000101670	ENST00000261292;ENST00000427224	T;T	0.63417	-0.04;-0.04	6.17	5.29	0.74685	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.051109	0.85682	N	0.000000	T	0.46521	0.1397	N	0.17631	0.505	0.80722	D	1	P;P	0.40834	0.73;0.593	B;B	0.42343	0.384;0.384	T	0.47873	-0.9083	10	0.02654	T	1	-29.6539	14.6874	0.69059	0.0698:0.0:0.9302:0.0	.	296;370	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	I	370;296	ENSP00000261292:V370I;ENSP00000387978:V296I	ENSP00000261292:V370I	V	+	1	0	LIPG	45362801	0.987000	0.35691	0.873000	0.34254	0.030000	0.12068	1.906000	0.39887	1.598000	0.50083	0.655000	0.94253	GTC		0.448	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		9	91	0	0	0	1	0	9	91				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	51	0	0	0	1	0	4	51				
NOVA2	4858	broad.mit.edu	37	19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:46457064T>A	ENST00000263257.5	-	3	564	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	124					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGTTCATCGTGGTTTGGGGT	0.527																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(370-372)Acg>Tcg		neuro-oncological ventral antigen 2							305.0	259.0	274.0					19																	46457064		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46457064T>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.370A>T	19.37:g.46457064T>A	ENSP00000263257:p.Thr124Ser						p.T124S	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	3	564	-		all_neural(266;0.113)|Ovarian(192;0.127)	124					O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.370A>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471471	0.63737	.	.	ENSG00000104967	ENST00000263257	T	0.62639	0.01	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	N	0.24115	0.695	0.50632	D	0.999888	D	0.63880	0.993	D	0.68192	0.956	T	0.58306	-0.7659	10	0.18710	T	0.47	-5.6018	12.4742	0.55803	0.0:0.0:0.0:1.0	.	124	Q9UNW9	NOVA2_HUMAN	S	124	ENSP00000263257:T124S	ENSP00000263257:T124S	T	-	1	0	NOVA2	51148904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.508000	0.81686	2.046000	0.60703	0.460000	0.39030	ACG		0.527	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		61	144	0	0	0	1	0	61	144				
SLC5A12	159963	broad.mit.edu	37	11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:26702725C>A	ENST00000396005.3	-	12	1661	c.1352G>T	c.(1351-1353)tGg>tTg	p.W451L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	451					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGGCCACCCAAAATGACAA	0.448																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(1351-1353)tGg>tTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							65.0	62.0	63.0					11																	26702725		1894	4108	6002	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26702725C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1352G>T	11.37:g.26702725C>A	ENSP00000379326:p.Trp451Leu						p.W451L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			12	1661	-			451					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1352G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765467	0.90020	.	.	ENSG00000148942	ENST00000396005	D	0.87809	-2.3	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95022	0.8161	10	0.87932	D	0	.	18.1964	0.89823	0.0:1.0:0.0:0.0	.	451	Q1EHB4	SC5AC_HUMAN	L	451	ENSP00000379326:W451L	ENSP00000379326:W451L	W	-	2	0	SLC5A12	26659301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.863000	0.69568	2.590000	0.87494	0.655000	0.94253	TGG		0.448	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		3	35	1	0	0.004672	1	0.00483689	3	35				
OSR1	130497	broad.mit.edu	37	2	19553372	19553372	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:19553372C>T	ENST00000272223.2	-	2	539	c.195G>A	c.(193-195)ccG>ccA	p.P65P	OSR1_ENST00000536433.1_Silent_p.P65P	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	65					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGAAGAGCGCGGCAAGTGCA	0.612																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(193-195)ccG>ccA		odd-skipped related transciption factor 1							38.0	41.0	40.0					2																	19553372		2203	4300	6503	SO:0001819	synonymous_variant	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553372C>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.195G>A	2.37:g.19553372C>T						OSR1_ENST00000272223.2_Silent_p.P65P	p.P65P			Q8TAX0	OSR1_HUMAN			1	3305	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	65					B3KV97|D6W521	Silent	SNP	ENST00000272223.2	37	c.195G>A	CCDS1694.1																																																																																				0.612	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		5	57	0	0	0	1	0	5	57				
PPARA	5465	broad.mit.edu	37	22	46611177	46611177	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr22:46611177G>A	ENST00000396000.2	+	4	581	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R|PPARA_ENST00000407236.1_Missense_Mutation_p.G106R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	106					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TAGAATCTGCGGGGACAAGGC	0.592																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(316-318)Ggg>Agg		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						89.0	74.0	79.0					22																	46611177		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46611177G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.316G>A	22.37:g.46611177G>A	ENSP00000379322:p.Gly106Arg					PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000407236.1_Missense_Mutation_p.G106R	p.G106R			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	4	581	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	106					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.316G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224169	0.79576	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	5.15	5.15	0.70609	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.098076	0.64402	D	0.000001	D	0.98283	0.9431	M	0.88377	2.95	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67231	0.95;0.95	D	0.99297	1.0900	10	0.87932	D	0	.	17.9572	0.89073	0.0:0.0:1.0:0.0	.	106;106	F1D8S4;Q07869	.;PPARA_HUMAN	R	106	ENSP00000379322:G106R;ENSP00000262735:G106R;ENSP00000414752:G106R;ENSP00000385523:G106R;ENSP00000385246:G106R;ENSP00000408149:G106R	ENSP00000262735:G106R	G	+	1	0	PPARA	44989841	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	4.008000	0.57103	2.546000	0.85860	0.591000	0.81541	GGG		0.592	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		4	52	0	0	0	1	0	4	52				
SHC1	6464	broad.mit.edu	37	1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:154941890C>T	ENST00000368445.5	-	2	744	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000448116.2_Missense_Mutation_p.R177H	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	177	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGGCACGCATTGACTG	0.602																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(529-531)cGt>cAt		SHC (Src homology 2 domain containing) transforming protein 1							77.0	61.0	66.0					1																	154941890		2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154941890C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.530G>A	1.37:g.154941890C>T	ENSP00000357430:p.Arg177His					SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H	p.R177H	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	750	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		177			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.530G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208166	0.95033	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000412170;ENST00000366442	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	4.92	4.92	0.64577	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.88704	2.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.55153	-0.8185	10	0.87932	D	0	.	15.6675	0.77242	0.0:1.0:0.0:0.0	.	177;177	P29353-6;P29353	.;SHC1_HUMAN	H	177;177;67;67;113;67;67	ENSP00000357430:R177H;ENSP00000401303:R177H;ENSP00000357438:R67H;ENSP00000357435:R67H;ENSP00000398441:R67H;ENSP00000396162:R67H	ENSP00000396162:R67H	R	-	2	0	SHC1	153208514	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.256000	0.78350	2.580000	0.87095	0.655000	0.94253	CGT		0.602	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		6	35	0	0	0	1	0	6	35				
UVSSA	57654	broad.mit.edu	37	4	1348988	1348988	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:1348988A>G	ENST00000389851.4	+	7	1578	c.1131A>G	c.(1129-1131)aaA>aaG	p.K377K	UVSSA_ENST00000511216.1_Silent_p.K377K|AC078852.1_ENST00000504748.1_RNA|UVSSA_ENST00000507531.1_Silent_p.K377K	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	377					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TACTGAGAAAATACAAGGAGC	0.627																																						ENST00000389851.4																			0											c.(1129-1131)aaA>aaG		UV-stimulated scaffold protein A							52.0	53.0	53.0					4																	1348988		2203	4298	6501	SO:0001819	synonymous_variant	57654							g.chr4:1348988A>G	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1131A>G	4.37:g.1348988A>G						UVSSA_ENST00000511216.1_Silent_p.K377K|UVSSA_ENST00000507531.1_Silent_p.K377K	p.K377K	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			7	1578	+			377					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.1131A>G	CCDS33938.1																																																																																				0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		16	21	0	0	0	1	0	16	21				
MROH2B	133558	broad.mit.edu	37	5	41005012	41005012	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr5:41005012T>C	ENST00000399564.4	-	36	4325	c.3875A>G	c.(3874-3876)gAa>gGa	p.E1292G	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1292																	AAGGATTGGTTCCTTCATGAG	0.488																																						ENST00000399564.4																			0											c.(3874-3876)gAa>gGa		maestro heat-like repeat family member 2B							90.0	86.0	87.0					5																	41005012		1993	4165	6158	SO:0001583	missense	133558							g.chr5:41005012T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3875A>G	5.37:g.41005012T>C	ENSP00000382476:p.Glu1292Gly					MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	p.E1292G	NM_173489.4	NP_775760.3					36	4325	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3875A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306492	0.81247	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66280	-0.2;-0.2	6.0	6.0	0.97389	Armadillo-type fold (1);	3.322900	0.00424	N	0.000065	T	0.69744	0.3145	L	0.43152	1.355	0.38016	D	0.934704	D	0.58620	0.983	P	0.53062	0.717	T	0.53436	-0.8439	10	0.19590	T	0.45	.	12.9028	0.58135	0.0:0.0:0.0:1.0	.	1292	Q7Z745	HTRB2_HUMAN	G	847;997;1292	ENSP00000441504:E847G;ENSP00000382476:E1292G	ENSP00000296803:E997G	E	-	2	0	HEATR7B2	41040769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.913000	0.56394	2.304000	0.77564	0.523000	0.50628	GAA		0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	60	0	0	0	1	0	7	60				
AKAP9	10142	broad.mit.edu	37	7	91667795	91667795	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:91667795A>G	ENST00000359028.2	+	18	4662	c.4437A>G	c.(4435-4437)ggA>ggG	p.G1479G	AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1479					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGGGGGAAAAGAAAATA	0.318			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4435-4437)ggA>ggG		A kinase (PRKA) anchor protein 9							62.0	62.0	62.0					7																	91667795		2203	4299	6502	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91667795A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4437A>G	7.37:g.91667795A>G						AKAP9_ENST00000358100.2_Silent_p.G1479G|AKAP9_ENST00000356239.3_Silent_p.G1467G	p.G1479G			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		18	4662	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1479					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.4437A>G																																																																																					0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		4	63	0	0	0	1	0	4	63				
ARHGEF19	128272	broad.mit.edu	37	1	16534595	16534595	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:16534595A>G	ENST00000270747.3	-	3	674	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	180					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCAGACAACTCCACCCTG	0.667																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(538-540)Ttg>Ctg		Rho guanine nucleotide exchange factor (GEF) 19							64.0	67.0	66.0					1																	16534595		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534595A>G	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.538T>C	1.37:g.16534595A>G						ARHGEF19_ENST00000421561.1_Silent_p.L180L	p.L180L	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	3	674	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	180					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.538T>C	CCDS170.1																																																																																				0.667	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		4	100	0	0	0	1	0	4	100				
DLST	1743	broad.mit.edu	37	14	75367846	75367846	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr14:75367846G>A	ENST00000334220.4	+	14	1198	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	DLST_ENST00000334212.6_Silent_p.S293S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	379					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TTTTTGGCTCGCTCTTTGGAA	0.488																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1135-1137)tcG>tcA		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							143.0	131.0	135.0					14																	75367846		2203	4300	6503	SO:0001819	synonymous_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75367846G>A		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1137G>A	14.37:g.75367846G>A						DLST_ENST00000334212.6_Silent_p.S293S	p.S379S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	14	1198	+			379					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.1137G>A	CCDS9833.1																																																																																				0.488	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			9	118	0	0	0	1	0	9	118				
EYS	346007	broad.mit.edu	37	6	66115187	66115187	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:66115187G>A	ENST00000370621.3	-	6	1462	c.936C>T	c.(934-936)agC>agT	p.S312S	EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000503581.1_Silent_p.S312S|EYS_ENST00000393380.2_Silent_p.S312S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	312					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAACTGCTATTTGGGC	0.378																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(934-936)agC>agT		eyes shut homolog (Drosophila)							161.0	166.0	164.0					6																	66115187		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115187G>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.936C>T	6.37:g.66115187G>A						EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S	p.S312S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			6	1473	-			312					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.936C>T																																																																																					0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		10	131	0	0	0	1	0	10	131				
KANK4	163782	broad.mit.edu	37	1	62739197	62739197	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:62739197C>T	ENST00000371153.4	-	3	1957	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	527						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTCTTTCTGTCGCTGCCCCAC	0.602																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1579-1581)Gac>Aac		KN motif and ankyrin repeat domains 4							54.0	55.0	55.0					1																	62739197		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739197C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1579G>A	1.37:g.62739197C>T	ENSP00000360195:p.Asp527Asn					KANK4_ENST00000354381.3_Intron	p.D527N	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1957	-			527					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1579G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378099	0.24944	.	.	ENSG00000132854	ENST00000371153	T	0.45276	0.9	4.68	1.44	0.22558	.	0.816249	0.09985	N	0.730482	T	0.32010	0.0815	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.27673	-1.0067	10	0.39692	T	0.17	-3.3583	4.0806	0.09924	0.0:0.562:0.1935:0.2445	.	527	Q5T7N3	KANK4_HUMAN	N	527	ENSP00000360195:D527N	ENSP00000360195:D527N	D	-	1	0	KANK4	62511785	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.506000	0.06359	0.084000	0.17077	0.655000	0.94253	GAC		0.602	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		28	74	0	0	0	1	0	28	74				
ANKRD27	84079	broad.mit.edu	37	19	33122333	33122333	+	Missense_Mutation	SNP	G	G	A	rs201398434		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:33122333G>A	ENST00000306065.4	-	13	1342	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	395					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S395L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTGGGAGACGAAGTCATCTG	0.478																																						ENST00000306065.4																			1	Substitution - Missense(1)	p.S395L(1)	ovary(1)	breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1183-1185)tCg>tTg		ankyrin repeat domain 27 (VPS9 domain)							165.0	145.0	152.0					19																	33122333		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33122333G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1184C>T	19.37:g.33122333G>A	ENSP00000304292:p.Ser395Leu						p.S395L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			13	1342	-	Esophageal squamous(110;0.137)		395					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1184C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236874	0.58886	.	.	ENSG00000105186	ENST00000306065	T	0.62639	0.01	5.38	5.38	0.77491	Ankyrin repeat-containing domain (1);	0.133396	0.34460	N	0.003957	T	0.57710	0.2072	N	0.20986	0.625	0.80722	D	1	D	0.58970	0.984	P	0.47645	0.553	T	0.61874	-0.6973	10	0.51188	T	0.08	-14.012	19.1212	0.93364	0.0:0.0:1.0:0.0	.	395	Q96NW4	ANR27_HUMAN	L	395	ENSP00000304292:S395L	ENSP00000304292:S395L	S	-	2	0	ANKRD27	37814173	0.993000	0.37304	0.245000	0.24217	0.262000	0.26303	6.638000	0.74309	2.504000	0.84457	0.549000	0.68633	TCG		0.478	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		23	104	0	0	0	1	0	23	104				
OR2A14	135941	broad.mit.edu	37	7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A	rs199919624		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:143826812G>A	ENST00000408899.2	+	1	662	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20177	0.0		0.001	False		,,,				2504	0.0					ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(607-609)Gtg>Atg		olfactory receptor, family 2, subfamily A, member 14							153.0	159.0	157.0					7																	143826812		2046	4198	6244	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826812G>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.607G>A	7.37:g.143826812G>A	ENSP00000386137:p.Val203Met						p.V203M	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	662	+	Melanoma(164;0.0783)		203					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.607G>A	CCDS43672.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.265	-0.614712	0.03663	.	.	ENSG00000221938	ENST00000408899	T	0.41065	1.01	4.18	-0.71	0.11234	GPCR, rhodopsin-like superfamily (1);	0.308595	0.17550	U	0.170216	T	0.36193	0.0958	L	0.61387	1.9	0.09310	N	1	B	0.28082	0.2	B	0.34346	0.18	T	0.37865	-0.9687	10	0.62326	D	0.03	-15.1716	3.8812	0.09079	0.4317:0.0:0.405:0.1634	.	203	Q96R47	O2A14_HUMAN	M	203	ENSP00000386137:V203M	ENSP00000386137:V203M	V	+	1	0	OR2A14	143457745	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-0.374000	0.07484	-0.054000	0.13266	-2.357000	0.00240	GTG		0.577	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			41	356	0	0	0	1	0	41	356				
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A	rs534005643		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711																																						ENST00000329286.6																			1	Substitution - coding silent(1)	p.G49G(1)	prostate(1)	breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						c.(145-147)ggC>ggA		RAB12, member RAS oncogene family							12.0	17.0	15.0					18																	8609872		1918	4118	6036	SO:0001819	synonymous_variant	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8609872C>A		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.147C>A	18.37:g.8609872C>A							p.G49G	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN			1	430	+			49					A6NEF5|Q4KMQ3	Silent	SNP	ENST00000329286.6	37	c.147C>A	CCDS42410.1																																																																																				0.711	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		5	29	1	0	3.59834e-05	1	3.76969e-05	5	29				
BEST4	266675	broad.mit.edu	37	1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:45253307C>T	ENST00000372207.3	-	1	70	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	24						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCTTCCCCTCCAGCGGAGAAG	0.572																																						ENST00000372207.3																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(70-72)tGg>tAg		bestrophin 4							95.0	105.0	102.0					1																	45253307		2203	4300	6503	SO:0001587	stop_gained	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45253307C>T	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.71G>A	1.37:g.45253307C>T	ENSP00000361281:p.Trp24*						p.W24*	NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN			1	70	-	Acute lymphoblastic leukemia(166;0.155)		24					Q5JR93	Nonsense_Mutation	SNP	ENST00000372207.3	37	c.71G>A	CCDS514.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193848	0.78902	.	.	ENSG00000142959	ENST00000372207	.	.	.	4.68	4.68	0.58851	.	0.072060	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0509	15.1429	0.72623	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000361281:W24X	W	-	2	0	BEST4	45025894	1.000000	0.71417	0.980000	0.43619	0.635000	0.38103	7.635000	0.83286	2.427000	0.82271	0.655000	0.94253	TGG		0.572	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		26	215	0	0	0	1	0	26	215				
CLVS2	134829	broad.mit.edu	37	6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A	rs376660185		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:123369870G>A	ENST00000275162.5	+	4	2003	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378																																						ENST00000275162.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(667-669)cGg>cAg		clavesin 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	116.0	114.0		668	4.8	1.0	6		114	0,8600		0,0,4300	no	missense	CLVS2	NM_001010852.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	223/328	123369870	1,13005	2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123369870G>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.668G>A	6.37:g.123369870G>A	ENSP00000275162:p.Arg223Gln					CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	p.R223Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			4	2003	+			223			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.668G>A	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033250	0.93575	2.27E-4	0.0	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.77620	-1.11;-1.11	5.72	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.055607	0.64402	D	0.000001	T	0.61837	0.2379	L	0.49256	1.55	0.80722	D	1	P	0.47841	0.901	B	0.37692	0.256	T	0.64740	-0.6336	10	0.33141	T	0.24	-16.4352	15.8674	0.79074	0.0:0.0:0.8639:0.1361	.	223	Q5SYC1	CLVS2_HUMAN	Q	223;77	ENSP00000275162:R223Q;ENSP00000357423:R77Q	ENSP00000275162:R223Q	R	+	2	0	CLVS2	123411569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.850000	0.98022	0.650000	0.86243	CGG		0.378	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		4	81	0	0	0	1	0	4	81				
PTPRU	10076	broad.mit.edu	37	1	29644362	29644362	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:29644362G>T	ENST00000345512.3	+	26	3775	c.3646G>T	c.(3646-3648)Gac>Tac	p.D1216Y	PTPRU_ENST00000356870.3_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1206Y|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1212Y	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1216	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCCGCCCGACCGCTGCCT	0.637																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(3616-3618)Gac>Tac		protein tyrosine phosphatase, receptor type, U							90.0	75.0	80.0					1																	29644362		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29644362G>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3646G>T	1.37:g.29644362G>T	ENSP00000334941:p.Asp1216Tyr					PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000345512.3_Missense_Mutation_p.D1216Y|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1212Y|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1212Y	p.D1206Y	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	25	3745	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1216			Tyrosine-protein phosphatase 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.3616G>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586243	0.86851	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	4.62	4.62	0.57501	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	H	0.98407	4.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.978;0.978;0.978;0.987;0.987	D	0.98362	1.0549	9	.	.	.	.	17.0229	0.86438	0.0:0.0:1.0:0.0	.	1203;1212;1206;1212;1216	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Y	1216;1206;1212;1212;1203;1212	ENSP00000334941:D1216Y;ENSP00000362884:D1206Y;ENSP00000349333:D1212Y;ENSP00000314987:D1212Y;ENSP00000392332:D1203Y;ENSP00000432906:D1212Y	.	D	+	1	0	PTPRU	29516949	1.000000	0.71417	0.958000	0.39756	0.940000	0.58332	9.648000	0.98483	2.546000	0.85860	0.655000	0.94253	GAC		0.637	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			17	90	1	0	1.99824e-07	1	2.17092e-07	17	90				
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493					ENST00000539543.1																			0																																																			0							g.chr1:148933289A>G																													1.37:g.148933289A>G								NR_027355.1						0	176	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				3	15	0	0	0	1	0	3	15				
TPSB2	64499	broad.mit.edu	37	16	1278552	1278552	+	RNA	SNP	A	A	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr16:1278552A>T	ENST00000339687.6	-	0	848				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GGGGCAGGGAAGGTGTGGGGG	0.647																																						ENST00000430512.2																			0				lung(1)|upper_aerodigestive_tract(1)	2								tryptase beta 2 (gene/pseudogene)																																						64499				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1278552A>T	AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1278552A>T						TPSB2_ENST00000339687.6_RNA		NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN			0	974	-		Hepatocellular(780;0.00369)						D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	RNA	SNP	ENST00000339687.6	37																																																																																						0.647	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		8	10	0	0	0	1	0	8	10				
FHOD1	29109	broad.mit.edu	37	16	67264087	67264087	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr16:67264087G>A	ENST00000258201.4	-	20	3343	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1032					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGGGACAGAGGGGTTGCTGG	0.597																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3094-3096)ccC>ccT		formin homology 2 domain containing 1							48.0	54.0	52.0					16																	67264087		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264087G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3096C>T	16.37:g.67264087G>A						FHOD1_ENST00000567687.1_Silent_p.P611P	p.P1032P	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	20	3343	-		Ovarian(137;0.0563)	1032					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.3096C>T	CCDS10834.1																																																																																				0.597	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			53	103	0	0	0	1	0	53	103				
KCNH7	90134	broad.mit.edu	37	2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	rs149070457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:163291905C>A	ENST00000332142.5	-	8	1856	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	586					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G586E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATCCAACCATCCGATTTTGTC	0.433																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - Missense(1)	p.G586E(1)	skin(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1756-1758)gGa>gTa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						191.0	171.0	178.0					2																	163291905		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291905C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1757G>T	2.37:g.163291905C>A	ENSP00000331727:p.Gly586Val					KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	p.G586V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1856	-			586					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1757G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794356	0.90453	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99680	-5.27;-6.38	5.9	5.9	0.94986	Ion transport (1);	0.045973	0.85682	D	0.000000	D	0.99799	0.9914	M	0.92412	3.305	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.74348	0.983;0.956	D	0.97507	1.0064	10	0.72032	D	0.01	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	579;586	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	V	586;579	ENSP00000331727:G586V;ENSP00000333781:G579V	ENSP00000333781:G579V	G	-	2	0	KCNH7	163000151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGA		0.433	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		5	136	1	0	0.184627	1	0.184627	5	136				
WWP1	11059	broad.mit.edu	37	8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:87423858T>G	ENST00000517970.1	+	9	1123	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	272					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTCTCCAAATTGCACTAGTA	0.413																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(814-816)aaT>aaG		WW domain containing E3 ubiquitin protein ligase 1							121.0	115.0	117.0					8																	87423858		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87423858T>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.816T>G	8.37:g.87423858T>G	ENSP00000427793:p.Asn272Lys					WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K	p.N272K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			9	1123	+			272					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.816T>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	T	7.889	0.731831	0.15507	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.42513	1.02;1.02;0.97;1.04	5.73	1.97	0.26223	.	1.366900	0.04829	N	0.438462	T	0.21267	0.0512	N	0.08118	0	0.26785	N	0.969525	B;B	0.15473	0.013;0.0	B;B	0.16289	0.015;0.0	T	0.23226	-1.0194	10	0.10377	T	0.69	.	4.7879	0.13234	0.0:0.2453:0.1502:0.6045	.	54;272	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	K	272;272;142;54	ENSP00000427793:N272K;ENSP00000265428:N272K;ENSP00000340564:N142K;ENSP00000342665:N54K	ENSP00000265428:N272K	N	+	3	2	WWP1	87492974	1.000000	0.71417	0.069000	0.20011	0.976000	0.68499	1.784000	0.38674	0.097000	0.17492	0.528000	0.53228	AAT		0.413	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		30	55	0	0	0	1	0	30	55				
SCN9A	6335	broad.mit.edu	37	2	167133601	167133601	+	Silent	SNP	G	G	A	rs199653503	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:167133601G>A	ENST00000409435.1	-	15	2765	c.2766C>T	c.(2764-2766)cgC>cgT	p.R922R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.R923R|SCN9A_ENST00000409672.1_Silent_p.R911R|SCN9A_ENST00000375387.4_Silent_p.R923R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	922					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACACAGCACGCGGAACACAA	0.483													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		14772	0.0		0.0	False		,,,				2504	0.0					ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(2767-2769)cgC>cgT		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)	G		16,4390	22.3+/-47.3	0,16,2187	199.0	190.0	193.0		2733	-11.3	0.0	2	dbSNP_134	193	0,8594		0,0,4297	no	coding-synonymous	SCN9A	NM_002977.3		0,16,6484	AA,AG,GG		0.0,0.3631,0.1231		911/1978	167133601	16,12984	2203	4297	6500	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167133601G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2766C>T	2.37:g.167133601G>A						AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.R922R|SCN9A_ENST00000409672.1_Silent_p.R911R|SCN9A_ENST00000375387.4_Silent_p.R923R	p.R923R			Q15858	SCN9A_HUMAN			16	3109	-			922					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.2769C>T	CCDS46441.1																																																																																				0.483	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		28	276	0	0	0	1	0	28	276				
MYL5	4636	broad.mit.edu	37	4	673714	673714	+	Missense_Mutation	SNP	G	G	A	rs552131207		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:673714G>A	ENST00000400159.2	+	4	304	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	MYL5_ENST00000505477.1_Missense_Mutation_p.V26I|MYL5_ENST00000506838.1_Missense_Mutation_p.V26I|MYL5_ENST00000511290.1_Missense_Mutation_p.V26I	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	67					regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(1)|kidney(1)|lung(1)	3						CAAGACCAACGTCAAGGACGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18391	0.0		0.0	False		,,,				2504	0.001					ENST00000506838.1																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(76-78)Gtc>Atc		myosin, light chain 5, regulatory							80.0	93.0	89.0					4																	673714		2198	4298	6496	SO:0001583	missense	4636				regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr4:673714G>A		CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"""Myosins / Light chain"", ""EF-hand domain containing"""	7586	protein-coding gene	gene with protein product		160782	"""myosin, light polypeptide 5, regulatory"""			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.199G>A	4.37:g.673714G>A	ENSP00000383023:p.Val67Ile					MYL5_ENST00000511290.1_Missense_Mutation_p.V26I|MYL5_ENST00000400159.2_Missense_Mutation_p.V67I|MYL5_ENST00000505477.1_Missense_Mutation_p.V26I	p.V26I			Q02045	MYL5_HUMAN			5	2600	+			67					Q8IXL8	Missense_Mutation	SNP	ENST00000400159.2	37	c.76G>A	CCDS43197.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916411	0.17907	.	.	ENSG00000215375	ENST00000506838;ENST00000505477;ENST00000511290;ENST00000400159;ENST00000507804	T;T;T;T;T	0.78816	-1.09;-1.09;-1.09;-1.21;-1.21	4.12	2.37	0.29283	EF-hand-like domain (1);	0.000000	0.28730	U	0.014333	T	0.66386	0.2784	L	0.46947	1.48	0.20764	N	0.999853	B	0.12013	0.005	B	0.04013	0.001	T	0.50591	-0.8810	10	0.23891	T	0.37	.	8.0198	0.30402	0.2081:0.0:0.7919:0.0	.	67	Q02045	MYL5_HUMAN	I	26;26;26;67;72	ENSP00000427153:V26I;ENSP00000423118:V26I;ENSP00000425162:V26I;ENSP00000383023:V67I;ENSP00000427317:V72I	ENSP00000383023:V67I	V	+	1	0	MYL5	663714	0.171000	0.23029	0.134000	0.22075	0.061000	0.15899	1.439000	0.35013	0.226000	0.20979	0.561000	0.74099	GTC		0.607	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358570.2	NM_002477		37	58	0	0	0	1	0	37	58				
ANXA11	311	broad.mit.edu	37	10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr10:81917453C>A	ENST00000438331.1	-	16	1884	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	468					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GATCTGATGTCCAGGAGGTCG	0.577																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(1402-1404)Gac>Tac		annexin A11							142.0	125.0	131.0					10																	81917453		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81917453C>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1402G>T	10.37:g.81917453C>A	ENSP00000398610:p.Asp468Tyr					ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y	p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		16	1884	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		468					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.1402G>T	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.741048|4.741048	0.89573|0.89573	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219|ENST00000447489	T;T;T;T;T;T;T|.	0.03468|.	3.92;3.92;3.92;3.92;3.92;3.92;3.92|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Annexin repeat, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76335|0.76335	0.3973|0.3973	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	P;D;D|.	0.83275|.	0.843;0.996;0.996|.	T|T	0.76990|0.76990	-0.2754|-0.2754	10|5	0.66056|.	D|.	0.02|.	.|.	16.5377|16.5377	0.84377|0.84377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	568;468;468|.	B7Z6L0;Q5T0G8;P50995|.	.;.;ANX11_HUMAN|.	Y|C	468;468;468;468;468;468;468;375;435;115|100	ENSP00000361305:D468Y;ENSP00000404412:D468Y;ENSP00000398610:D468Y;ENSP00000353827:D468Y;ENSP00000265447:D468Y;ENSP00000441748:D468Y;ENSP00000441400:D435Y|.	ENSP00000265447:D468Y|.	D|W	-|-	1|3	0|0	ANXA11|ANXA11	81907433|81907433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	7.361000|7.361000	0.79497|0.79497	2.575000|2.575000	0.86900|0.86900	0.561000|0.561000	0.74099|0.74099	GAC|TGG		0.577	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		7	93	1	0	0.0293803	1	0.0300636	7	93				
MYH2	4620	broad.mit.edu	37	17	10432357	10432357	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr17:10432357G>A	ENST00000245503.5	-	27	3778	c.3394C>T	c.(3394-3396)Cgg>Tgg	p.R1132W	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1132					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGGAGGCCCGCTCTGCCTCG	0.602																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3394-3396)Cgg>Tgg		myosin, heavy chain 2, skeletal muscle, adult							35.0	40.0	38.0					17																	10432357		2201	4293	6494	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432357G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3394C>T	17.37:g.10432357G>A	ENSP00000245503:p.Arg1132Trp					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W	p.R1132W	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3778	-			1132					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3394C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269677	0.59540	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83992	-1.79;-1.79	5.09	0.501	0.16925	Myosin tail (1);	0.000000	0.35970	U	0.002868	D	0.93661	0.7975	H	0.98218	4.175	0.46149	D	0.99889	D	0.89917	1.0	D	0.74023	0.982	D	0.94552	0.7754	10	0.87932	D	0	.	14.4426	0.67327	0.0:0.0:0.4925:0.5075	.	1132	Q9UKX2	MYH2_HUMAN	W	1132	ENSP00000245503:R1132W;ENSP00000380367:R1132W	ENSP00000245503:R1132W	R	-	1	2	MYH2	10373082	0.872000	0.30054	0.998000	0.56505	0.982000	0.71751	-0.101000	0.10973	-0.004000	0.14419	0.591000	0.81541	CGG		0.602	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		52	107	0	0	0	1	0	52	107				
ABCC4	10257	broad.mit.edu	37	13	95862991	95862991	+	Silent	SNP	G	G	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr13:95862991G>C	ENST00000376887.4	-	5	690	c.576C>G	c.(574-576)ggC>ggG	p.G192G	ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	192	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGACTATCTGGCCTGTGGTTG	0.438																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(574-576)ggC>ggG		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						177.0	133.0	148.0					13																	95862991		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:95862991G>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.576C>G	13.37:g.95862991G>C						ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G	p.G192G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			5	690	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		192			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.576C>G	CCDS9474.1																																																																																				0.438	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		6	42	0	0	0	1	0	6	42				
OR56A1	120796	broad.mit.edu	37	11	6048227	6048227	+	Silent	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:6048227T>C	ENST00000316650.5	-	1	744	c.708A>G	c.(706-708)aaA>aaG	p.K236K		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTCTGCTTTGAATCTAA	0.488																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(706-708)aaA>aaG		olfactory receptor, family 56, subfamily A, member 1							45.0	45.0	45.0					11																	6048227		2201	4296	6497	SO:0001819	synonymous_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048227T>C	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.708A>G	11.37:g.6048227T>C							p.K236K	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	744	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	236					B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	c.708A>G	CCDS31405.1																																																																																				0.488	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		37	51	0	0	0	1	0	37	51				
THEMIS	387357	broad.mit.edu	37	6	128134734	128134734	+	Missense_Mutation	SNP	G	G	A	rs200529297		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:128134734G>A	ENST00000368248.2	-	4	1200	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M|THEMIS_ENST00000368250.1_Missense_Mutation_p.T272M	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	351	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCATAGGCCGTTGGGAACTC	0.473																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(814-816)aCg>aTg		thymocyte selection associated							90.0	93.0	92.0					6																	128134734		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134734G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1052C>T	6.37:g.128134734G>A	ENSP00000357231:p.Thr351Met					THEMIS_ENST00000368248.2_Missense_Mutation_p.T351M|THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M	p.T272M			Q8N1K5	THMS1_HUMAN			5	1313	-			351			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.815C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775867	0.70107	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.82323	2.585	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.49688	-0.8913	10	0.62326	D	0.03	-16.7754	19.5143	0.95157	0.0:0.0:1.0:0.0	.	351;351	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	272;351;351;316;119	ENSP00000357233:T272M;ENSP00000439594:T351M;ENSP00000357231:T351M;ENSP00000439863:T316M;ENSP00000387740:T119M	ENSP00000357231:T351M	T	-	2	0	THEMIS	128176427	1.000000	0.71417	0.946000	0.38457	0.988000	0.76386	7.842000	0.86851	2.614000	0.88457	0.462000	0.41574	ACG		0.473	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		16	144	0	0	0	1	0	16	144				
LPO	4025	broad.mit.edu	37	17	56343598	56343598	+	Missense_Mutation	SNP	G	G	A	rs144914036		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr17:56343598G>A	ENST00000262290.4	+	11	1920	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	LPO_ENST00000543544.1_Missense_Mutation_p.R476H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000421678.2_Missense_Mutation_p.R452H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	535					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.R535H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGAGCTGCGCAACAAGCTT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.001					ENST00000262290.4																			1	Substitution - Missense(1)	p.R535H(1)	large_intestine(1)	breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1603-1605)cGc>cAc		lactoperoxidase		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	57.0	60.0		1355,1604	5.1	1.0	17	dbSNP_134	60	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	LPO	NM_001160102.1,NM_006151.2	29,29	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging,probably-damaging	452/630,535/713	56343598	6,13000	2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56343598G>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1604G>A	17.37:g.56343598G>A	ENSP00000262290:p.Arg535His					LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000421678.2_Missense_Mutation_p.R452H|LPO_ENST00000543544.1_Missense_Mutation_p.R476H	p.R535H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			11	1920	+			535					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1604G>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301331	0.81136	2.27E-4	5.81E-4	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71222	-0.55;-0.55;-0.55	6.06	5.08	0.68730	.	0.212137	0.46442	D	0.000298	D	0.84647	0.5518	M	0.89904	3.07	0.44619	D	0.99759	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	D	0.85488	0.1183	10	0.51188	T	0.08	-18.0602	8.3164	0.32102	0.0805:0.3021:0.6174:0.0	.	452;535	E7EMJ3;P22079	.;PERL_HUMAN	H	535;452;476;280	ENSP00000262290:R535H;ENSP00000400245:R452H;ENSP00000445344:R476H	ENSP00000262290:R535H	R	+	2	0	LPO	53698597	0.998000	0.40836	0.986000	0.45419	0.995000	0.86356	1.205000	0.32308	1.532000	0.49169	0.655000	0.94253	CGC		0.547	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			6	70	0	0	0	1	0	6	70				
KIAA1549L	25758	broad.mit.edu	37	11	33581376	33581376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:33581376G>A	ENST00000321505.4	+	6	3226	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1016						integral component of membrane (GO:0016021)											CAACGGCACCGTCGCCAGCAG	0.567																																						ENST00000321505.4																			0											c.(3046-3048)Gtc>Atc		KIAA1549-like							108.0	113.0	111.0					11																	33581376		2145	4243	6388	SO:0001583	missense	25758							g.chr11:33581376G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3046G>A	11.37:g.33581376G>A	ENSP00000315295:p.Val1016Ile					KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I	p.V1016I							6	3226	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3046G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741681	0.30865	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.41	4.48	0.54585	.	0.382410	0.29073	N	0.013222	T	0.23766	0.0575	L	0.33485	1.01	0.09310	N	1	P;P	0.44986	0.847;0.484	B;B	0.37451	0.25;0.108	T	0.09207	-1.0685	9	0.23302	T	0.38	-12.4527	10.2632	0.43438	0.2121:0.0:0.7879:0.0	.	1022;1022	E9PAT2;Q6ZVL6-2	.;.	I	1016;1022;1022;855	.	ENSP00000265654:V1022I	V	+	1	0	C11orf41	33537952	0.339000	0.24784	0.054000	0.19295	0.858000	0.48976	1.605000	0.36815	1.396000	0.46663	0.567000	0.79289	GTC		0.567	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		15	219	0	0	0	1	0	15	219				
CHD6	84181	broad.mit.edu	37	20	40192693	40192693	+	Intron	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr20:40192693G>A	ENST00000373233.3	-	2	155				CHD6_ENST00000309279.7_Intron|CHD6_ENST00000373222.3_Missense_Mutation_p.T32M	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				gaacacaagcgttgtgggatt	0.408																																						ENST00000373222.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(94-96)aCg>aTg		chromodomain helicase DNA binding protein 6							53.0	50.0	51.0					20																	40192693		876	1991	2867	SO:0001627	intron_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40192693G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.23-12694C>T	20.37:g.40192693G>A						CHD6_ENST00000373233.3_Intron|CHD6_ENST00000309279.7_Intron	p.T32M			Q8TD26	CHD6_HUMAN			2	133	-		Myeloproliferative disorder(115;0.00425)	2343					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.95C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.068126	0.20067	.	.	ENSG00000124177	ENST00000373222	T	0.81163	-1.46	3.43	-2.27	0.06846	.	.	.	.	.	T	0.60353	0.2262	.	.	.	0.09310	N	1	P	0.42039	0.769	B	0.30646	0.118	T	0.53899	-0.8373	8	0.59425	D	0.04	.	2.761	0.05306	0.316:0.0:0.3451:0.3388	.	32	Q8TD26-2	.	M	32	ENSP00000362319:T32M	ENSP00000362319:T32M	T	-	2	0	CHD6	39626107	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.554000	0.06006	-0.424000	0.07382	-0.137000	0.14449	ACG		0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			10	29	0	0	0	1	0	10	29				
TG	7038	broad.mit.edu	37	8	133925308	133925308	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:133925308C>T	ENST00000220616.4	+	20	4216	c.4176C>T	c.(4174-4176)ggC>ggT	p.G1392G	TG_ENST00000377869.1_Silent_p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1392					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGTGGGCAAGGATCTCC	0.557																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4174-4176)ggC>ggT		thyroglobulin							87.0	76.0	80.0					8																	133925308		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925308C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4176C>T	8.37:g.133925308C>T						TG_ENST00000377869.1_Silent_p.G1392G	p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4216	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1392					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4176C>T	CCDS34944.1																																																																																				0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		27	43	0	0	0	1	0	27	43				
TRPM2	7226	broad.mit.edu	37	21	45846600	45846600	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr21:45846600G>A	ENST00000397928.1	+	26	4298	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1285					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACGCGGCCGCCATGGACCC	0.592																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3853-3855)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 2							64.0	71.0	69.0					21																	45846600		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45846600G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3853G>A	21.37:g.45846600G>A	ENSP00000381023:p.Ala1285Thr					TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T	p.A1285T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			26	4298	+			1285					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3853G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	0.939	-0.710034	0.03230	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.46	-8.55	0.00908	NUDIX hydrolase domain-like (1);	2.167450	0.02664	N	0.107872	T	0.52613	0.1745	N	0.20986	0.625	0.09310	N	1	B;B;B	0.17852	0.01;0.024;0.01	B;B;B	0.11329	0.006;0.001;0.003	T	0.34204	-0.9838	10	0.33940	T	0.23	-2.3686	2.5774	0.04809	0.4581:0.2326:0.2075:0.1018	.	1335;1071;1285	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	T	1285;1285;1265;1335;63	ENSP00000300482:A1285T;ENSP00000381023:A1285T;ENSP00000300481:A1265T;ENSP00000381026:A1335T	ENSP00000300481:A1265T	A	+	1	0	TRPM2	44671028	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.427000	0.02441	-1.684000	0.01443	-0.126000	0.14955	GCC		0.592	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		6	141	0	0	0	1	0	6	141				
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4156-4158)Cgc>Tgc		myosin, heavy chain 13, skeletal muscle							139.0	134.0	136.0					17																	10216500		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216500G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4156C>T	17.37:g.10216500G>A	ENSP00000404570:p.Arg1386Cys					MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C	p.R1386C			Q9UKX3	MYH13_HUMAN			29	4319	-			1386					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4156C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583801	0.46006	.	.	ENSG00000006788	ENST00000252172	T	0.81078	-1.45	3.96	3.96	0.45880	Myosin tail (1);	.	.	.	.	D	0.90363	0.6984	H	0.95043	3.615	0.46317	D	0.998982	B	0.30361	0.277	P	0.47376	0.545	D	0.91917	0.5544	9	0.87932	D	0	.	12.2372	0.54522	0.0868:0.0:0.9132:0.0	.	1386	Q9UKX3	MYH13_HUMAN	C	1386	ENSP00000252172:R1386C	ENSP00000252172:R1386C	R	-	1	0	MYH13	10157225	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.132000	0.31418	2.207000	0.71202	0.462000	0.41574	CGC		0.617	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		9	274	0	0	0	1	0	9	274				
FCRL3	115352	broad.mit.edu	37	1	157666077	157666077	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:157666077G>A	ENST00000368184.3	-	7	1176	c.885C>T	c.(883-885)acC>acT	p.T295T	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T295T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	295	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T295T(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTGCCCTCCGGTGGGCCGGA	0.517																																						ENST00000368184.3																			1	Substitution - coding silent(1)	p.T295T(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(883-885)acC>acT		Fc receptor-like 3							95.0	91.0	93.0					1																	157666077		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666077G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.885C>T	1.37:g.157666077G>A						FCRL3_ENST00000368186.5_Silent_p.T295T|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	p.T295T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1176	-	all_hematologic(112;0.0378)		295			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.885C>T	CCDS1167.1																																																																																				0.517	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		16	157	0	0	0	1	0	16	157				
FAM47C	442444	broad.mit.edu	37	X	37026830	37026830	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chrX:37026830C>T	ENST00000358047.3	+	1	399	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	116										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCACGGAAGGCGTTCGTAGAG	0.547																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(346-348)gCg>gTg		family with sequence similarity 47, member C							93.0	85.0	88.0					X																	37026830		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026830C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.347C>T	X.37:g.37026830C>T	ENSP00000367913:p.Ala116Val						p.A116V	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	399	+			116					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.347C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	3.282	-0.146861	0.06627	.	.	ENSG00000198173	ENST00000358047	T	0.20069	2.1	0.502	-1.0	0.10196	.	.	.	.	.	T	0.10766	0.0263	L	0.28694	0.88	0.09310	N	1	P	0.37122	0.583	B	0.31614	0.133	T	0.12319	-1.0552	9	0.46703	T	0.11	.	2.1461	0.03788	0.4845:0.2644:0.0:0.2511	.	116	Q5HY64	FA47C_HUMAN	V	116	ENSP00000367913:A116V	ENSP00000367913:A116V	A	+	2	0	FAM47C	36936751	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.832000	0.04400	-1.515000	0.01784	-0.713000	0.03633	GCG		0.547	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		22	77	0	0	0	1	0	22	77				
PPP1R3A	5506	broad.mit.edu	37	7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:113518488C>A	ENST00000284601.3	-	4	2727	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	887					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGATAATTCTTGAACCTGC	0.363																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2659-2661)Gaa>Taa		protein phosphatase 1, regulatory subunit 3A							86.0	83.0	84.0					7																	113518488		2202	4299	6501	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113518488C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2659G>T	7.37:g.113518488C>A	ENSP00000284601:p.Glu887*						p.E887*	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2727	-			887					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.2659G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028904	0.75504	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.81	3.0	0.34707	.	0.509628	0.19051	N	0.124031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.6972	7.241	0.26096	0.0:0.7121:0.1404:0.1475	.	.	.	.	X	887	.	ENSP00000284601:E887X	E	-	1	0	PPP1R3A	113305724	0.537000	0.26386	1.000000	0.80357	0.148000	0.21650	0.790000	0.26900	0.768000	0.33290	0.650000	0.86243	GAA		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		5	96	1	0	0.184627	1	0.184627	5	96				
MAGI3	260425	broad.mit.edu	37	1	114201721	114201721	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:114201721C>T	ENST00000307546.9	+	16	2724	c.2649C>T	c.(2647-2649)ggC>ggT	p.G883G	MAGI3_ENST00000369615.1_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G|MAGI3_ENST00000369617.4_Silent_p.G908G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	908	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAATTGGCCGAGTCATAG	0.378																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2647-2649)ggC>ggT		membrane associated guanylate kinase, WW and PDZ domain containing 3							94.0	98.0	97.0					1																	114201721		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114201721C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2649C>T	1.37:g.114201721C>T						MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000369611.4_Silent_p.G883G	p.G883G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2711	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	908			Interaction with LPAR2 and GRIN2B.|PDZ 5.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2649C>T	CCDS44196.1																																																																																				0.378	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	111	0	0	0	1	0	4	111				
OR6N2	81442	broad.mit.edu	37	1	158746588	158746588	+	Missense_Mutation	SNP	C	C	T	rs186539843		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:158746588C>T	ENST00000339258.1	-	1	837	c.838G>A	c.(838-840)Gta>Ata	p.V280I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V280I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTGTTAGTACGGAGTAAACT	0.423																																						ENST00000339258.1																			1	Substitution - Missense(1)	p.V280I(1)	endometrium(1)	endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(838-840)Gta>Ata		olfactory receptor, family 6, subfamily N, member 2		T	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	156.0	146.0	149.0		838	3.8	1.0	1		149	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR6N2	NM_001005278.1	29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	280/318	158746588	4,13002	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746588C>T	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.838G>A	1.37:g.158746588C>T	ENSP00000344101:p.Val280Ile						p.V280I	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	837	-	all_hematologic(112;0.0378)		280					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.838G>A	CCDS30906.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	13.02	2.111613	0.37242	2.27E-4	3.49E-4	ENSG00000188340	ENST00000339258	T	0.00289	8.28	4.74	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.263351	0.20021	N	0.100915	T	0.00039	0.0001	L	0.31578	0.945	0.21675	N	0.999597	P	0.42203	0.773	B	0.33620	0.167	T	0.00305	-1.1831	10	0.30078	T	0.28	-6.0462	12.224	0.54449	0.0:0.9157:0.0:0.0843	.	280	Q8NGY6	OR6N2_HUMAN	I	280	ENSP00000344101:V280I	ENSP00000344101:V280I	V	-	1	0	OR6N2	157013212	0.000000	0.05858	0.997000	0.53966	0.716000	0.41182	-0.680000	0.05197	1.217000	0.43442	-0.127000	0.14921	GTA		0.423	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			8	117	0	0	0	1	0	8	117				
HNRNPD	3184	broad.mit.edu	37	4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:83280638C>A	ENST00000313899.7	-	3	722	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	149	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTACACTCTCCGATTCTTTA	0.358																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(445-447)Gag>Tag		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							94.0	91.0	92.0					4																	83280638		2203	4300	6503	SO:0001587	stop_gained	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280638C>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.445G>T	4.37:g.83280638C>A	ENSP00000313199:p.Glu149*					HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*	p.E149*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			3	722	-			149			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Nonsense_Mutation	SNP	ENST00000313899.7	37	c.445G>T	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.498932|6.498932	0.97616|0.97616	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822|ENST00000514671	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77205	.|0.4096	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73742	.|-0.3887	.|4	0.40728|.	T|.	0.16|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	149;149;130;97;124;82;149;51;130|52	.|.	ENSP00000307544:E124X|.	E|G	-|-	1|2	0|0	HNRNPD|HNRNPD	83499662|83499662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.368000|7.368000	0.79567|0.79567	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		11	96	1	0	4.3838e-07	1	4.70457e-07	11	96				
SCN11A	11280	broad.mit.edu	37	3	38962717	38962717	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:38962717G>A	ENST00000302328.3	-	6	940	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R248C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	248					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCACAGAGCGTAGCAAGGCC	0.537																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(742-744)Cgc>Tgc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						113.0	109.0	110.0					3																	38962717		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38962717G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.742C>T	3.37:g.38962717G>A	ENSP00000307599:p.Arg248Cys					SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R248C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C	p.R248C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	6	940	-			248					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.742C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617954	0.87359	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	4.67	4.67	0.58626	Ion transport (1);	0.217778	0.42964	D	0.000631	D	0.98804	0.9597	M	0.74389	2.26	0.49582	D	0.999803	D	0.76494	0.999	D	0.63597	0.916	D	0.99301	1.0901	10	0.54805	T	0.06	.	15.1097	0.72346	0.0:0.0:1.0:0.0	.	248	Q9UI33	SCNBA_HUMAN	C	248	ENSP00000307599:R248C;ENSP00000400945:R248C;ENSP00000416757:R248C;ENSP00000408028:R248C	ENSP00000307599:R248C	R	-	1	0	SCN11A	38937721	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.423000	0.80229	2.147000	0.66899	0.585000	0.79938	CGC		0.537	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		8	221	0	0	0	1	0	8	221				
CERK	64781	broad.mit.edu	37	22	47095220	47095220	+	Silent	SNP	G	G	A	rs377639952		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr22:47095220G>A	ENST00000216264.8	-	8	1045	c.933C>T	c.(931-933)taC>taT	p.Y311Y	CERK_ENST00000541677.1_Silent_p.Y113Y	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	311					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGAAAAGTCGTATCTGGCAA	0.552																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(931-933)taC>taT		ceramide kinase		G		1,4405	2.1+/-5.4	0,1,2202	215.0	157.0	177.0		933	1.3	1.0	22		177	0,8600		0,0,4300	no	coding-synonymous	CERK	NM_022766.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		311/538	47095220	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47095220G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.933C>T	22.37:g.47095220G>A						CERK_ENST00000541677.1_Silent_p.Y113Y	p.Y311Y	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	8	1045	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	311					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.933C>T	CCDS14077.1																																																																																				0.552	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		17	127	0	0	0	1	0	17	127				
DPYSL5	56896	broad.mit.edu	37	2	27169828	27169828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:27169828G>A	ENST00000288699.6	+	13	1818	c.1660G>A	c.(1660-1662)Gct>Act	p.A554T	DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	554					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGATCCTCGCTCCTCCCGG	0.617																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1660-1662)Gct>Act		dihydropyrimidinase-like 5							89.0	71.0	77.0					2																	27169828		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27169828G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1660G>A	2.37:g.27169828G>A	ENSP00000288699:p.Ala554Thr					DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T	p.A554T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			13	1818	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		554					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1660G>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	g	35	5.448477	0.96205	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.86164	-2.08;-2.08	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.87381	2.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.66084	0.941	D	0.93866	0.7158	10	0.49607	T	0.09	-21.5054	18.5156	0.90935	0.0:0.0:1.0:0.0	.	554	Q9BPU6	DPYL5_HUMAN	T	554	ENSP00000288699:A554T;ENSP00000385549:A554T	ENSP00000288699:A554T	A	+	1	0	DPYSL5	27023332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.607000	0.98328	2.680000	0.91292	0.542000	0.68232	GCT		0.617	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		10	37	0	0	0	1	0	10	37				
CACNA1A	773	broad.mit.edu	37	19	13423557	13423557	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:13423557C>T	ENST00000360228.5	-	12	1593	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.E533K(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATAAACATTTCGGACATAAAG	0.458																																						ENST00000360228.5																			2	Substitution - Missense(2)	p.E533K(2)	large_intestine(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42	GRCh37	CM065992	CACNA1A	M		c.(1594-1596)Gaa>Aaa		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						75.0	72.0	73.0					19																	13423557		1850	4099	5949	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423557C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1594G>A	19.37:g.13423557C>T	ENSP00000353362:p.Glu532Lys					CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	p.E532K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1593	-			533					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1594G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349644	0.82132	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98822	-5.16	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99273	4.495	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.994;0.988	D	0.97583	1.0112	10	0.87932	D	0	.	17.6776	0.88235	0.0:1.0:0.0:0.0	.	533;533;532	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	532;533;533;533	ENSP00000353362:E532K	ENSP00000317661:E533K	E	-	1	0	CACNA1A	13284557	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.529000	0.85273	0.650000	0.86243	GAA		0.458	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	64	0	0	0	1	0	4	64				
PCDH11Y	83259	broad.mit.edu	37	Y	4925416	4925416	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chrY:4925416G>A	ENST00000333703.4	+	4	1032	c.519G>A	c.(517-519)tcG>tcA	p.S173S	PCDH11Y_ENST00000362095.5_Silent_p.S184S|PCDH11Y_ENST00000215473.6_Silent_p.S184S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	184	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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGAGAACTCGGCTATAAACT	0.363																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(517-519)tcG>tcA		protocadherin 11 Y-linked							15.0	14.0	14.0					Y																	4925416		619	1907	2526	SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925416G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.519G>A	Y.37:g.4925416G>A						PCDH11Y_ENST00000215473.6_Silent_p.S184S|PCDH11Y_ENST00000362095.5_Silent_p.S184S	p.S173S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			4	1032	+			184			Cadherin 2.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.519G>A	CCDS14776.1																																																																																				0.363	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		5	45	0	0	0	1	0	5	45				
OPN5	221391	broad.mit.edu	37	6	47776029	47776029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:47776029C>T	ENST00000371211.2	+	5	924	c.896C>T	c.(895-897)gCg>gTg	p.A299V	OPN5_ENST00000489301.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAATCTGCAGCGATGTACAAT	0.453																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(895-897)gCg>gTg		opsin 5							232.0	213.0	219.0					6																	47776029		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47776029C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.896C>T	6.37:g.47776029C>T	ENSP00000360255:p.Ala299Val					OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V	p.A299V			Q6U736	OPN5_HUMAN			5	981	+			299					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.896C>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658603	0.88154	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.72835	-0.69;-0.69;-0.69	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.047393	0.85682	D	0.000000	T	0.69575	0.3126	L	0.55213	1.73	0.58432	D	0.999998	D	0.55800	0.973	P	0.49597	0.616	T	0.73483	-0.3968	10	0.66056	D	0.02	.	19.333	0.94299	0.0:1.0:0.0:0.0	.	299	Q6U736	OPN5_HUMAN	V	299	ENSP00000426991:A299V;ENSP00000360255:A299V;ENSP00000377302:A299V	ENSP00000360255:A299V	A	+	2	0	OPN5	47883988	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.445000	0.80570	2.644000	0.89710	0.655000	0.94253	GCG		0.453	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		58	129	0	0	0	1	0	58	129				
SPRR1A	6698	broad.mit.edu	37	1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:152957847G>T	ENST00000368762.1	+	1	141	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SPRR1A_ENST00000307122.2_Missense_Mutation_p.E47D			P35321	SPR1A_HUMAN	small proline-rich protein 1A	47	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCTGAGCCCTGCCACC	0.642																																						ENST00000307122.2																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7						c.(139-141)gaG>gaT		small proline-rich protein 1A							120.0	120.0	120.0					1																	152957847		2203	4300	6503	SO:0001583	missense	6698				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152957847G>T	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.141G>T	1.37:g.152957847G>T	ENSP00000357751:p.Glu47Asp					SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D	p.E47D	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	205	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			6 X 8 AA approximate tandem repeats.		B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	c.141G>T	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647613	0.67358	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.13196	2.61;2.61	5.49	4.57	0.56435	.	0.000000	0.37136	N	0.002230	T	0.20700	0.0498	.	.	.	0.26270	N	0.978433	D	0.76494	0.999	D	0.80764	0.994	T	0.06445	-1.0826	9	0.59425	D	0.04	-12.4325	10.2524	0.43377	0.0917:0.0:0.9083:0.0	.	47	P35321	SPR1A_HUMAN	D	47	ENSP00000307340:E47D;ENSP00000357751:E47D	ENSP00000307340:E47D	E	+	3	2	SPRR1A	151224471	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.450000	0.60041	1.320000	0.45209	0.555000	0.69702	GAG		0.642	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987		21	250	1	0	2.4624e-09	1	2.70864e-09	21	250				
SLAMF6	114836	broad.mit.edu	37	1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:160466146C>T	ENST00000368057.3	-	2	147	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_ENST00000368059.3_Missense_Mutation_p.M29I|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6	29						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCGTTCACCATCAATGGGG	0.458																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(85-87)atG>atA		SLAM family member 6							162.0	162.0	162.0					1																	160466146		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466146C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.87G>A	1.37:g.160466146C>T	ENSP00000357036:p.Met29Ile					SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I	p.M29I	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	156	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		29					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.87G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	3.537	-0.094577	0.07053	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.21361	2.01;2.01	4.95	-4.54	0.03452	Immunoglobulin subtype (1);Immunoglobulin V-set (1);	1.387830	0.04729	N	0.420899	T	0.02342	0.0072	L	0.28192	0.835	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.33214	-0.9877	10	0.08837	T	0.75	0.3789	0.8089	0.01089	0.2617:0.2144:0.1205:0.4034	.	29;29	Q96DU3;B2R8X8	SLAF6_HUMAN;.	I	29	ENSP00000357038:M29I;ENSP00000357036:M29I	ENSP00000357036:M29I	M	-	3	0	SLAMF6	158732770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.717000	0.04986	-1.283000	0.02393	-0.768000	0.03414	ATG		0.458	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		8	283	0	0	0	1	0	8	283				
ADAM23	8745	broad.mit.edu	37	2	207435477	207435477	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:207435477C>T	ENST00000264377.3	+	16	1836	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M|ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	503	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTTGAGCCCACGGAATGTGGA	0.418																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1507-1509)aCg>aTg		ADAM metallopeptidase domain 23							192.0	175.0	181.0					2																	207435477		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207435477C>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1508C>T	2.37:g.207435477C>T	ENSP00000264377:p.Thr503Met					ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M|ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M	p.T503M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	16	1836	+			503			Disintegrin.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1508C>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455658	0.84209	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.02015	4.51;4.5;4.51	5.91	5.91	0.95273	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.13072	0.0317	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.00014	-1.2406	10	0.87932	D	0	.	19.8897	0.96925	0.0:1.0:0.0:0.0	.	503	O75077	ADA23_HUMAN	M	503;503;397;503	ENSP00000264377:T503M;ENSP00000363537:T503M;ENSP00000363536:T503M	ENSP00000264377:T503M	T	+	2	0	ADAM23	207143722	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.521000	0.73778	2.804000	0.96469	0.462000	0.41574	ACG		0.418	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		7	51	0	0	0	1	0	7	51				
CSF2RA	1438	broad.mit.edu	37	X	1401455	1401455	+	Splice_Site	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chrX:1401455T>G	ENST00000432318.2	+	3	296		c.e3+2		CSF2RA_ENST00000417535.2_5'Flank|CSF2RA_ENST00000381500.1_5'Flank|CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381524.3_Intron|CSF2RA_ENST00000355805.2_Intron	NM_001161529.1	NP_001155001.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTTGACCAGGTCAGCGGCTGA	0.557																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000432318.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.e3+2		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)																																			SO:0001630	splice_region_variant	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1401455T>G	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000432318.2:c.-27+2T>G	X.37:g.1401455T>G						CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381524.3_Intron		NM_001161529.1	NP_001155001.1	P15509	CSF2R_HUMAN			3	296	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Splice_Site	SNP	ENST00000432318.2	37		CCDS35191.1																																																																																				0.557	CSF2RA-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			Intron	18	34	0	0	0	1	0	18	34				
TNF	7124	broad.mit.edu	37	6	31544556	31544556	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:31544556G>A	ENST00000449264.2	+	3	420	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	82					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	TCATCTTCTCGAACCCCGAGT	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000449264.2																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8						c.(244-246)cGa>cAa		tumor necrosis factor	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						177.0	182.0	181.0					6																	31544556		1511	2709	4220	SO:0001583	missense	7124	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31544556G>A	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.245G>A	6.37:g.31544556G>A	ENSP00000398698:p.Arg82Gln						p.R82Q	NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN			3	420	+		Ovarian(999;0.00556)	82					O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	c.245G>A	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	G	3.425	-0.117247	0.06838	.	.	ENSG00000232810	ENST00000449264	D	0.85629	-2.01	4.62	-0.254	0.12992	Tumour necrosis factor-like (1);	2.127950	0.02592	N	0.100069	T	0.45013	0.1321	N	0.04705	-0.18	0.09310	N	0.999992	B	0.13145	0.007	B	0.08055	0.003	T	0.47736	-0.9094	10	0.11182	T	0.66	.	7.0418	0.25025	0.6791:0.0:0.3209:0.0	.	82	P01375	TNFA_HUMAN	Q	82	ENSP00000398698:R82Q	ENSP00000398698:R82Q	R	+	2	0	TNF	31652535	0.127000	0.22367	0.305000	0.25099	0.968000	0.65278	0.222000	0.17699	0.073000	0.16731	0.655000	0.94253	CGA		0.502	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			16	201	0	0	0	1	0	16	201				
CAPRIN2	65981	broad.mit.edu	37	12	30867973	30867973	+	Missense_Mutation	SNP	T	T	A	rs534484327		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr12:30867973T>A	ENST00000395805.2	-	14	2949	c.2402A>T	c.(2401-2403)aAt>aTt	p.N801I	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.N857I	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCCGGCTATTGACAAATGG	0.438																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2569-2571)aAt>aTt		caprin family member 2							142.0	134.0	137.0					12																	30867973		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30867973T>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2402A>T	12.37:g.30867973T>A	ENSP00000379150:p.Asn801Ile					CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I	p.N857I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			15	3320	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		857						Missense_Mutation	SNP	ENST00000395805.2	37	c.2570A>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668702	0.47677	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.54	-5.33	0.02713	.	0.744650	0.13375	N	0.392571	T	0.21550	0.0519	L	0.47190	1.495	0.18873	N	0.999982	P;P;P;B;P	0.45715	0.642;0.865;0.551;0.435;0.551	B;B;B;B;B	0.42882	0.25;0.401;0.239;0.116;0.239	T	0.19257	-1.0311	10	0.87932	D	0	-0.3039	11.7206	0.51680	0.0:0.5909:0.1056:0.3036	.	801;856;857;807;856	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	I	602;807;801;857;523;856	ENSP00000415407:N602I;ENSP00000298892:N807I;ENSP00000379150:N801I;ENSP00000251071:N857I;ENSP00000309785:N523I;ENSP00000391479:N856I	ENSP00000251071:N857I	N	-	2	0	CAPRIN2	30759240	0.018000	0.18449	0.042000	0.18584	0.966000	0.64601	-0.387000	0.07361	-0.916000	0.03818	0.533000	0.62120	AAT		0.438	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		4	135	0	0	0	1	0	4	135				
PLIN5	440503	broad.mit.edu	37	19	4529255	4529255	+	Missense_Mutation	SNP	G	G	A	rs140507757	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:4529255G>A	ENST00000381848.3	-	5	430	c.350C>T	c.(349-351)tCa>tTa	p.S117L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	117	Essential for lipid droplet targeting. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCCTTGGCTGAGGTCACCAC	0.667																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(349-351)tCa>tTa		perilipin 5							42.0	50.0	47.0					19																	4529255		2061	4201	6262	SO:0001583	missense	440503					lipid particle		g.chr19:4529255G>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.350C>T	19.37:g.4529255G>A	ENSP00000371272:p.Ser117Leu					CTB-50L17.14_ENST00000586020.1_3'UTR	p.S117L	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			5	430	-			117					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.350C>T	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.220497	0.58560	.	.	ENSG00000214456	ENST00000381848	T	0.06768	3.26	4.83	4.83	0.62350	.	1.260730	0.05973	U	0.642721	T	0.22282	0.0537	M	0.76170	2.325	0.80722	D	1	P	0.38300	0.626	P	0.45232	0.474	T	0.01753	-1.1281	10	0.66056	D	0.02	-11.2824	13.401	0.60883	0.0:0.0:1.0:0.0	.	117	Q00G26	PLIN5_HUMAN	L	117	ENSP00000371272:S117L	ENSP00000371272:S117L	S	-	2	0	PLIN5	4480255	0.978000	0.34361	0.994000	0.49952	0.374000	0.29953	2.839000	0.48207	2.252000	0.74401	0.561000	0.74099	TCA		0.667	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		9	137	0	0	0	1	0	9	137				
GGN	199720	broad.mit.edu	37	19	38876987	38876987	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:38876987A>G	ENST00000334928.6	-	3	1047	c.915T>C	c.(913-915)gtT>gtC	p.V305V	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	305	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCTCGAGAAACCTCTCCCA	0.697																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(913-915)gtT>gtC		gametogenetin							14.0	17.0	16.0					19																	38876987		2191	4276	6467	SO:0001819	synonymous_variant	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876987A>G	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.915T>C	19.37:g.38876987A>G						AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	p.V305V	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1047	-	all_cancers(60;3.4e-06)		305			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	c.915T>C	CCDS12516.1																																																																																				0.697	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		4	39	0	0	0	1	0	4	39				
ARHGAP39	80728	broad.mit.edu	37	8	145773444	145773444	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:145773444G>A	ENST00000276826.5	-	4	1227	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_ENST00000377307.2_Silent_p.A342A|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.A342A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	342	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGAGAGCCGGCCTGGTAGC	0.706																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1024-1026)gcC>gcT		Rho GTPase activating protein 39							14.0	17.0	16.0					8																	145773444		2078	4114	6192	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773444G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1026C>T	8.37:g.145773444G>A						ARHGAP39_ENST00000377307.2_Silent_p.A342A|ARHGAP39_ENST00000540274.1_Silent_p.A342A	p.A342A			Q9C0H5	RHG39_HUMAN			4	1227	-			342			Pro-rich.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.1026C>T																																																																																					0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			7	63	0	0	0	1	0	7	63				
ZNF35	7584	broad.mit.edu	37	3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:44700525T>C	ENST00000396056.2	+	4	905	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	224					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCCTTTTACGTGTAGCGTGTG	0.428																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(670-672)Tgt>Cgt		zinc finger protein 35							76.0	75.0	75.0					3																	44700525		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700525T>C	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.670T>C	3.37:g.44700525T>C	ENSP00000379368:p.Cys224Arg					RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R	p.C224R	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	905	+		Ovarian(412;0.0228)	224					B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.670T>C	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928432	0.52759	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.60171	0.21;0.21	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000112	D	0.82926	0.5143	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88308	0.2954	10	0.87932	D	0	-12.8516	14.0409	0.64674	0.0:0.0:0.0:1.0	.	224	P13682	ZNF35_HUMAN	R	224;64	ENSP00000379368:C224R;ENSP00000443714:C64R	ENSP00000379368:C224R	C	+	1	0	ZNF35	44675529	1.000000	0.71417	0.462000	0.27118	0.439000	0.31926	7.028000	0.76470	2.145000	0.66743	0.533000	0.62120	TGT		0.428	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		7	131	0	0	0	1	0	7	131				
BMP2K	55589	broad.mit.edu	37	4	79792152	79792152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:79792152C>T	ENST00000335016.5	+	11	1613	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	483	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcagcagca	0.507																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1447-1449)Cag>Tag		BMP2 inducible kinase							19.0	23.0	21.0					4																	79792152		2073	4047	6120	SO:0001587	stop_gained	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792152C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1447C>T	4.37:g.79792152C>T	ENSP00000334836:p.Gln483*					BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483*	p.Q483*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1613	+			483	Missing (in Ref. 2; CAB70863).		Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Nonsense_Mutation	SNP	ENST00000335016.5	37	c.1447C>T	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149711|3.149711	0.57151|0.57151	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|3.785800	.|0.00763	.|U	.|0.001140	T|.	0.11665|.	0.0284|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27706|.	-1.0066|.	2|.	.|0.05959	.|T	.|0.93	.|.	5.5339|5.5339	0.17001|0.17001	0.0:0.9999:0.0:1.0E-4|0.0:0.9999:0.0:1.0E-4	.|.	.|.	.|.	.|.	V|X	175|483;483;497	.|.	.|ENSP00000264889:Q497X	A|Q	+|+	2|1	0|0	BMP2K|BMP2K	80011176|80011176	0.999000|0.999000	0.42202|0.42202	0.139000|0.139000	0.22197|0.22197	0.047000|0.047000	0.14425|0.14425	1.064000|1.064000	0.30579|0.30579	0.161000|0.161000	0.19458|0.19458	0.163000|0.163000	0.16589|0.16589	GCA|CAG		0.507	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		6	62	0	0	0	1	0	6	62				
PID1	55022	broad.mit.edu	37	2	229890607	229890607	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:229890607C>T	ENST00000354069.6	-	3	524	c.494G>A	c.(493-495)cGc>cAc	p.R165H	PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000392055.3_Missense_Mutation_p.R132H|PID1_ENST00000392054.3_Missense_Mutation_p.R163H			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	165	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTAGGCGATGCGGGCCACCTG	0.582																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(487-489)cGc>cAc		phosphotyrosine interaction domain containing 1							139.0	128.0	132.0					2																	229890607		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890607C>T	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.494G>A	2.37:g.229890607C>T	ENSP00000283937:p.Arg165His					PID1_ENST00000392055.3_Missense_Mutation_p.R132H|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000354069.6_Missense_Mutation_p.R165H	p.R163H	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	827	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	165			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.488G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.168261	0.94768	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.85	5.85	0.93711	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.991;0.991;0.998;0.998	T	0.77411	-0.2598	8	.	.	.	-45.1254	19.1613	0.93533	0.0:1.0:0.0:0.0	.	83;132;163;165	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	H	163;83;132;165;165	.	.	R	-	2	0	PID1	229598851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	2.768000	0.95171	0.655000	0.94253	CGC		0.582	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		6	145	0	0	0	1	0	6	145				
TLR9	54106	broad.mit.edu	37	3	52255490	52255490	+	Missense_Mutation	SNP	G	G	A	rs369679861		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:52255490G>A	ENST00000360658.2	-	2	3475	c.2842C>T	c.(2842-2844)Cgc>Tgc	p.R948C	TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V|TLR9_ENST00000597542.1_Missense_Mutation_p.R972C	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	948	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	AAGCTGGCGCGCAAGAGACCA	0.662																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(2914-2916)Cgc>Tgc		toll-like receptor 9	Chloroquine(DB00608)	G	CYS/ARG	1,4401		0,1,2200	36.0	39.0	38.0		2842	4.9	0.7	3		38	0,8594		0,0,4297	no	missense	TLR9	NM_017442.3	180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	948/1033	52255490	1,12995	2201	4297	6498	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52255490G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2842C>T	3.37:g.52255490G>A	ENSP00000353874:p.Arg948Cys					TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V|TLR9_ENST00000360658.2_Missense_Mutation_p.R948C	p.R972C			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3871	-			948			TIR.		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2914C>T	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.084694|3.084694	0.55861|0.55861	2.27E-4|2.27E-4	0.0|0.0	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.09163	.|3.01	5.81|5.81	4.94|4.94	0.65067|0.65067	.|Toll/interleukin-1 receptor homology (TIR) domain (3);	.|0.000000	.|0.41194	.|D	.|0.000931	T|T	0.35422|0.35422	0.0931|0.0931	M|M	0.82823|0.82823	2.61|2.61	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.22626|0.22626	-1.0211|-1.0211	5|10	.|0.87932	.|D	.|0	.|.	12.6515|12.6515	0.56764|0.56764	0.0801:0.0:0.9199:0.0|0.0801:0.0:0.9199:0.0	.|.	.|1045;948	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	V|C	1101|948	.|ENSP00000353874:R948C	.|ENSP00000353874:R948C	A|R	-|-	2|1	0|0	RP11-330H6.5|TLR9	52230530|52230530	0.127000|0.127000	0.22367|0.22367	0.691000|0.691000	0.30163|0.30163	0.375000|0.375000	0.29983|0.29983	1.732000|1.732000	0.38146|0.38146	1.460000|1.460000	0.47911|0.47911	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.662	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			4	110	0	0	0	1	0	4	110				
NPC1L1	29881	broad.mit.edu	37	7	44579425	44579425	+	Missense_Mutation	SNP	C	C	T	rs146842539		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:44579425C>T	ENST00000289547.4	-	2	626	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	191					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGCCATACACGCCACACATG	0.612																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(571-573)Gtg>Atg		NPC1-like 1	Ezetimibe(DB00973)	C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	64.0	68.0		571,571	5.0	1.0	7	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense	NPC1L1	NM_001101648.1,NM_013389.2	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	191/1333,191/1360	44579425	1,13005	2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579425C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.571G>A	7.37:g.44579425C>T	ENSP00000289547:p.Val191Met					NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M	p.V191M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	626	-			191					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.571G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953094	0.34471	2.27E-4	0.0	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.04	5.04	0.67666	.	0.261682	0.33980	N	0.004379	D	0.90903	0.7141	M	0.75447	2.3	0.25834	N	0.984137	D;D;B;D	0.76494	0.982;0.999;0.2;0.997	B;P;B;P	0.54401	0.28;0.751;0.018;0.487	D	0.85333	0.1091	10	0.46703	T	0.11	-39.9348	9.4913	0.38962	0.0:0.9028:0.0:0.0972	.	191;191;191;191	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	M	191	ENSP00000289547:V191M;ENSP00000370552:V191M;ENSP00000438033:V191M;ENSP00000404670:V191M	ENSP00000289547:V191M	V	-	1	0	NPC1L1	44545950	0.424000	0.25490	0.992000	0.48379	0.899000	0.52679	2.889000	0.48601	2.344000	0.79699	0.455000	0.32223	GTG		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		5	98	0	0	0	1	0	5	98				
MUC15	143662	broad.mit.edu	37	11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:26586841C>T	ENST00000455601.2	-	2	683	c.565G>A	c.(565-567)Gga>Aga	p.G189R	MUC15_ENST00000436318.2_Missense_Mutation_p.G216R|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	189					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAAGCCATCCACTTGGTTCC	0.413																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(646-648)Gga>Aga		mucin 15, cell surface associated							128.0	124.0	126.0					11																	26586841		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586841C>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.565G>A	11.37:g.26586841C>T	ENSP00000397339:p.Gly189Arg					ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron	p.G216R			Q8N387	MUC15_HUMAN			2	779	-			189					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.646G>A	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390849	0.25118	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.29917	1.67;1.63;1.55;1.63;1.55	4.46	1.35	0.21983	.	1.705140	0.03458	N	0.211773	T	0.20129	0.0484	L	0.38175	1.15	0.09310	N	1	B;B;B	0.32031	0.352;0.037;0.037	B;B;B	0.29176	0.099;0.012;0.012	T	0.12192	-1.0557	10	0.05721	T	0.95	-6.1003	4.6553	0.12615	0.0:0.6:0.1796:0.2204	.	216;189;216	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	R	189;216;216;216;216	ENSP00000397339:G189R;ENSP00000416753:G216R;ENSP00000281268:G216R;ENSP00000431983:G216R;ENSP00000431945:G216R	ENSP00000281268:G216R	G	-	1	0	MUC15	26543417	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	0.162000	0.16501	0.159000	0.19401	0.650000	0.86243	GGA		0.413	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		7	107	0	0	0	1	0	7	107				
SEC14L5	9717	broad.mit.edu	37	16	5038194	5038194	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr16:5038194G>A	ENST00000251170.7	+	4	438	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	86	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAACATCTTGAACTGGAAGG	0.622																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(256-258)ttG>ttA		SEC14-like 5 (S. cerevisiae)							56.0	58.0	57.0					16																	5038194		2152	4255	6407	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5038194G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.258G>A	16.37:g.5038194G>A							p.L86L	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			4	438	+			86			PRELI/MSF1.			Silent	SNP	ENST00000251170.7	37	c.258G>A	CCDS45403.1																																																																																				0.622	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			18	35	0	0	0	1	0	18	35				
PRDM7	11105	broad.mit.edu	37	16	90160995	90160995	+	5'Flank	SNP	C	C	T	rs202147130	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr16:90160995C>T	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)	p.S75S(1)		lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCATGGACTCCGTGCGCTCGG	0.692																																						ENST00000567960.1																			1	Substitution - coding silent(1)	p.S75S(1)	endometrium(1)																																														SO:0001631	upstream_gene_variant	0							g.chr16:90160995C>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160995C>T	Exception_encountered					TUBB8P7_ENST00000564451.1_RNA								0	225	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.692	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			20	145	0	0	0	1	0	20	145				
STRIP1	85369	broad.mit.edu	37	1	110592992	110592992	+	Silent	SNP	C	C	T	rs199755654		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:110592992C>T	ENST00000369795.3	+	18	1939	c.1917C>T	c.(1915-1917)tgC>tgT	p.C639C	STRIP1_ENST00000369796.1_Silent_p.C544C	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	639					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											ACCCTCACTGCGTGGTGCATG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17782	0.0		0.0	False		,,,				2504	0.0					ENST00000369795.3																			0											c.(1915-1917)tgC>tgT		striatin interacting protein 1		C		0,4406		0,0,2203	120.0	96.0	104.0		1917	-3.5	1.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM40A	NM_033088.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		639/838	110592992	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85369							g.chr1:110592992C>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1917C>T	1.37:g.110592992C>T						STRIP1_ENST00000369796.1_Silent_p.C544C	p.C639C	NM_033088.2	NP_149079.2					18	1939	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	c.1917C>T	CCDS30798.1																																																																																				0.612	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		6	60	0	0	0	1	0	6	60				
MYLK	4638	broad.mit.edu	37	3	123456319	123456319	+	Silent	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:123456319G>T	ENST00000475616.1	-	5	659	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000360772.3_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I			Q15746	MYLK_HUMAN	myosin light chain kinase	220	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGACTCCATGGATTTCCAGAA	0.547																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(658-660)atC>atA		myosin light chain kinase							235.0	186.0	203.0					3																	123456319		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123456319G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.660C>A	3.37:g.123456319G>T						MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I	p.I220I			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	9	1038	-		Lung NSC(201;0.0496)	220			Ig-like C2-type 2.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.660C>A	CCDS46896.1																																																																																				0.547	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		9	218	1	0	1.04858e-14	1	1.18301e-14	9	218				
EVI5	7813	broad.mit.edu	37	1	92979385	92979385	+	Frame_Shift_Del	DEL	C	C	-	rs146602523		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:92979385delC	ENST00000370331.1	-	18	2270	c.2261delG	c.(2260-2262)ggtfs	p.G754fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	754	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAACCAACACCAGTTTCCTG	0.433																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(2260-2262)gtfs		ecotropic viral integration site 5							74.0	77.0	76.0					1																	92979385		2203	4300	6503	SO:0001589	frameshift_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979385delC	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2261delG	1.37:g.92979385delC	ENSP00000359356:p.Gly754fs					EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs	p.G754fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2270	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	754			Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	ENST00000370331.1	37	c.2261delG	CCDS30774.1																																																																																				0.433	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		36	79						36	79	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710019delT																													2.37:g.38710019delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			6	6						6	6	---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68938119	68938119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:68938119delT	ENST00000356291.2	-	5	495	c.436delA	c.(436-438)attfs	p.I146fs	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	146	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCCTTTTCAATTTTTTTCTTG	0.313																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(436-438)ttfs		transmembrane protease, serine 11F							94.0	95.0	94.0					4																	68938119		2203	4296	6499	SO:0001589	frameshift_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68938119delT	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.436delA	4.37:g.68938119delT	ENSP00000348639:p.Ile146fs					RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA	p.I146fs	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			5	495	-			146			SEA.		A8MXX2	Frame_Shift_Del	DEL	ENST00000356291.2	37	c.436delA	CCDS3520.1																																																																																				0.313	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		20	43						20	43	---	---	---	---
LOC101928823	101928823	broad.mit.edu	37	11	112332120	112332121	+	lincRNA	INS	-	-	T	rs545871933|rs111710457	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:112332120_112332121insT	ENST00000528496.1	+	0	231																											CTGATTTTATGTTTTTTTTTTT	0.376																																						ENST00000528496.1																			0																																																			0							g.chr11:112332120_112332121insT																													11.37:g.112332131_112332131dupT														0	231	+									RNA	INS	ENST00000528496.1	37																																																																																						0.376	RP11-65M17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000393672.1			2	4						2	4	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	92979385	92979385	+	Frame_Shift_Del	DEL	C	C	-	rs146602523		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:92979385delC	ENST00000370331.1	-	18	2270	c.2261delG	c.(2260-2262)ggtfs	p.G754fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	754	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAACCAACACCAGTTTCCTG	0.433																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(2260-2262)gtfs		ecotropic viral integration site 5							74.0	77.0	76.0					1																	92979385		2203	4300	6503	SO:0001589	frameshift_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979385delC	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2261delG	1.37:g.92979385delC	ENSP00000359356:p.Gly754fs					EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs	p.G754fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2270	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	754			Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	ENST00000370331.1	37	c.2261delG	CCDS30774.1																																																																																				0.433	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		36	79						36	79	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710019delT																													2.37:g.38710019delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			6	6						6	6	---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68938119	68938119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:68938119delT	ENST00000356291.2	-	5	495	c.436delA	c.(436-438)attfs	p.I146fs	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	146	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCCTTTTCAATTTTTTTCTTG	0.313																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(436-438)ttfs		transmembrane protease, serine 11F							94.0	95.0	94.0					4																	68938119		2203	4296	6499	SO:0001589	frameshift_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68938119delT	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.436delA	4.37:g.68938119delT	ENSP00000348639:p.Ile146fs					RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	p.I146fs	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			5	495	-			146			SEA.		A8MXX2	Frame_Shift_Del	DEL	ENST00000356291.2	37	c.436delA	CCDS3520.1																																																																																				0.313	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		20	43						20	43	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			0							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		2	4						2	4	---	---	---	---
