#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIF1B	23095	broad.mit.edu	37	1	10342413	10342413	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:10342413A>G	ENST00000377086.1	+	15	1458	c.1256A>G	c.(1255-1257)tAc>tGc	p.Y419C	KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	419					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCATAGATACTTGCTAGCC	0.453																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(1255-1257)tAc>tGc		kinesin family member 1B							76.0	72.0	73.0					1																	10342413		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10342413A>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1256A>G	1.37:g.10342413A>G	ENSP00000366290:p.Tyr419Cys		Somatic				KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C	p.Y419C			WXS	Illumina GAIIx	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	15	1458	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	419					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.1256A>G		.	.	.	.	.	.	.	.	.	.	A	13.79	2.343140	0.41498	.	.	ENSG00000054523	ENST00000355249;ENST00000377086;ENST00000377081	T;T	0.71817	-0.6;-0.6	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80144	0.4569	.	.	.	0.51233	D	0.999919	P;D;D	0.69078	0.943;0.997;0.997	P;P;P	0.56865	0.525;0.808;0.808	T	0.82010	-0.0669	9	0.54805	T	0.06	.	15.7585	0.78058	1.0:0.0:0.0:0.0	.	405;419;419	Q4R9M9;Q4VXC4;O60333	.;.;KIF1B_HUMAN	C	419	ENSP00000366290:Y419C;ENSP00000366284:Y419C	ENSP00000347392:Y419C	Y	+	2	0	KIF1B	10265000	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.522000	0.81844	2.191000	0.70037	0.529000	0.55759	TAC		0.453	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			13	37	13	37	---	---	---	---
JUN	3725	broad.mit.edu	37	1	59248569	59248569	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:59248569C>A	ENST00000371222.2	-	1	1216	c.174G>T	c.(172-174)tcG>tcT	p.S58S	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	58					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	TGAGGAGGTCCGAGTTCTTGG	0.632			A		sarcoma																																	ENST00000371222.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(172-174)tcG>tcT		jun proto-oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						86.0	99.0	94.0					1																	59248569		2203	4300	6503	SO:0001819	synonymous_variant	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248569C>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.174G>T	1.37:g.59248569C>A			Somatic					p.S58S	NM_002228.3	NP_002219.1	WXS	Illumina GAIIx	Phase_I	P05412	JUN_HUMAN			1	1216	-	all_cancers(7;8.55e-07)		58					Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	c.174G>T	CCDS610.1																																																																																				0.632	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		12	183	12	183	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78195548	78195548	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:78195548C>A	ENST00000370793.1	-	10	1153	c.807G>T	c.(805-807)caG>caT	p.Q269H	USP33_ENST00000370792.3_Missense_Mutation_p.Q269H|USP33_ENST00000370794.3_Missense_Mutation_p.Q238H|USP33_ENST00000357428.1_Missense_Mutation_p.Q269H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	269	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AACTAACCTGCTGAGAATACC	0.333																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(805-807)caG>caT		ubiquitin specific peptidase 33							79.0	85.0	83.0					1																	78195548		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78195548C>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.807G>T	1.37:g.78195548C>A	ENSP00000359829:p.Gln269His		Somatic				USP33_ENST00000370792.3_Missense_Mutation_p.Q269H|USP33_ENST00000370794.3_Missense_Mutation_p.Q238H|USP33_ENST00000357428.1_Missense_Mutation_p.Q269H	p.Q269H	NM_015017.4	NP_055832.3	WXS	Illumina GAIIx	Phase_I	Q8TEY7	UBP33_HUMAN			10	1153	-			269					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.807G>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484835	0.63962	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.32	3.41	0.39046	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.74258	2.255	0.58432	D	0.999997	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.97110	0.985;0.97;1.0	T	0.65504	-0.6152	10	0.72032	D	0.01	.	9.1748	0.37105	0.0:0.7396:0.0:0.2604	.	269;238;269	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	H	238;269;269;269	ENSP00000359830:Q238H;ENSP00000359829:Q269H;ENSP00000350009:Q269H;ENSP00000359828:Q269H	ENSP00000350009:Q269H	Q	-	3	2	USP33	77968136	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.481000	0.22260	1.384000	0.46424	0.650000	0.86243	CAG		0.333	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		4	90	4	90	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158064794	158064794	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:158064794C>A	ENST00000359209.6	+	15	2225	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T	KIRREL_ENST00000368173.3_Missense_Mutation_p.P736T|KIRREL_ENST00000360089.4_Missense_Mutation_p.P556T|KIRREL_ENST00000416935.2_Missense_Mutation_p.P620T|KIRREL_ENST00000368172.1_Missense_Mutation_p.P534T|KIRREL_ENST00000392272.2_Missense_Mutation_p.P617T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	720					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGAGCGGACCCCATATGAGGC	0.622																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1600-1602)Cca>Aca		kin of IRRE like (Drosophila)							42.0	40.0	40.0					1																	158064794		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064794C>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2158C>A	1.37:g.158064794C>A	ENSP00000352138:p.Pro720Thr		Somatic				KIRREL_ENST00000368173.3_Missense_Mutation_p.P736T|KIRREL_ENST00000392272.2_Missense_Mutation_p.P617T|KIRREL_ENST00000359209.6_Missense_Mutation_p.P720T|KIRREL_ENST00000360089.4_Missense_Mutation_p.P556T|KIRREL_ENST00000416935.2_Missense_Mutation_p.P620T	p.P534T			WXS	Illumina GAIIx	Phase_I	Q96J84	KIRR1_HUMAN			11	1612	+	all_hematologic(112;0.0378)		720					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1600C>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517681	0.64634	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.70631	0.47;-0.5;0.11;-0.14;-0.05;0.31	5.0	4.08	0.47627	.	0.000000	0.42964	D	0.000637	T	0.67915	0.2944	L	0.29908	0.895	0.38341	D	0.944085	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.996;0.997	T	0.74100	-0.3774	10	0.66056	D	0.02	-14.51	13.2225	0.59896	0.0:0.839:0.161:0.0	.	620;556;534;720	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	T	556;736;617;720;620;534	ENSP00000353202:P556T;ENSP00000357155:P736T;ENSP00000376098:P617T;ENSP00000352138:P720T;ENSP00000389674:P620T;ENSP00000357154:P534T	ENSP00000352138:P720T	P	+	1	0	KIRREL	156331418	0.989000	0.36119	0.992000	0.48379	0.937000	0.57800	1.464000	0.35288	1.086000	0.41228	0.561000	0.74099	CCA		0.622	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		4	41	4	41	---	---	---	---
KLHL20	27252	broad.mit.edu	37	1	173744960	173744960	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:173744960C>A	ENST00000209884.4	+	10	1753	c.1617C>A	c.(1615-1617)gcC>gcA	p.A539A	KLHL20_ENST00000546011.1_Silent_p.A350A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	539					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTGGTGGCCATGACATCAC	0.473																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1615-1617)gcC>gcA		kelch-like family member 20							102.0	103.0	103.0					1																	173744960		2203	4300	6503	SO:0001819	synonymous_variant	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173744960C>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1617C>A	1.37:g.173744960C>A			Somatic				KLHL20_ENST00000546011.1_Silent_p.A350A	p.A539A	NM_014458.3	NP_055273.2	WXS	Illumina GAIIx	Phase_I	Q9Y2M5	KLH20_HUMAN			10	1753	+			539					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.1617C>A	CCDS1310.1																																																																																				0.473	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		4	87	4	87	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200972744	200972744	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:200972744C>T	ENST00000422435.2	-	8	1498	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000332129.2_Silent_p.R394R	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	394					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R394R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCATCTGCAGCCGAGCAATCT	0.562																																						ENST00000332129.2																			1	Substitution - coding silent(1)	p.R394R(1)	endometrium(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1180-1182)cgG>cgA		kinesin family member 21B							142.0	111.0	122.0					1																	200972744		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200972744C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1182G>A	1.37:g.200972744C>T			Somatic				KIF21B_ENST00000422435.2_Silent_p.R394R|KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000461742.2_Silent_p.R394R	p.R394R	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	WXS	Illumina GAIIx	Phase_I	O75037	KI21B_HUMAN			8	1498	-			394					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1182G>A	CCDS58056.1																																																																																				0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		18	69	18	69	---	---	---	---
C1orf95	375057	broad.mit.edu	37	1	226784502	226784502	+	Splice_Site	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:226784502G>T	ENST00000366788.3	+	2	307		c.e2-1		C1orf95_ENST00000366789.4_Splice_Site	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95							integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GCCTCTCACAGGGACATTCGT	0.632																																						ENST00000366788.3																			0				large_intestine(1)|lung(4)|ovary(3)	8						c.e2-1		chromosome 1 open reading frame 95							72.0	70.0	71.0					1																	226784502		2203	4300	6503	SO:0001630	splice_region_variant	375057					integral to membrane		g.chr1:226784502G>T	AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.203-1G>T	1.37:g.226784502G>T			Somatic				C1orf95_ENST00000366789.4_Splice_Site		NM_001003665.3	NP_001003665.1	WXS	Illumina GAIIx	Phase_I	Q69YW2	CA095_HUMAN		GBM - Glioblastoma multiforme(131;0.113)	2	307	+	Breast(184;0.133)	Prostate(94;0.0885)						A6NGL2	Splice_Site	SNP	ENST00000366788.3	37		CCDS31044.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934716	0.92458	.	.	ENSG00000203685	ENST00000366788;ENST00000366789	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3828	0.94543	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf95	224851125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.509000	0.98002	2.669000	0.90835	0.561000	0.74099	.		0.632	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665	Intron	6	129	6	129	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228433202	228433202	+	Silent	SNP	G	G	C	rs374351944		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:228433202G>C	ENST00000422127.1	+	12	3614	c.3570G>C	c.(3568-3570)gtG>gtC	p.V1190V	OBSCN_ENST00000570156.2_Silent_p.V1282V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V1190V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1190	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGTGAGGTGGCCCAGCCCC	0.607																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3844-3846)gtG>gtC		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							82.0	82.0	82.0					1																	228433202		2096	4202	6298	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228433202G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3570G>C	1.37:g.228433202G>C			Somatic				OBSCN_ENST00000284548.11_Silent_p.V1190V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366709.4_5'UTR	p.V1282V	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			13	3920	+		Prostate(94;0.0405)	261			Ig-like 13.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.3846G>C	CCDS58065.1																																																																																				0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	71	11	71	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237711848	237711848	+	Silent	SNP	G	G	A	rs566157997		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:237711848G>A	ENST00000366574.2	+	26	3341	c.3024G>A	c.(3022-3024)gcG>gcA	p.A1008A	RYR2_ENST00000360064.6_Silent_p.A1006A|RYR2_ENST00000542537.1_Silent_p.A992A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1008	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTGTGGGCGCGGGATCGAA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19199	0.0		0.0	False		,,,				2504	0.0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3022-3024)gcG>gcA		ryanodine receptor 2 (cardiac)							62.0	59.0	60.0					1																	237711848		1930	4146	6076	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237711848G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3024G>A	1.37:g.237711848G>A			Somatic				RYR2_ENST00000360064.6_Silent_p.A1006A|RYR2_ENST00000542537.1_Silent_p.A992A	p.A1008A	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		26	3341	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1008			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3024G>A	CCDS55691.1																																																																																				0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	41	12	41	---	---	---	---
APOB	338	broad.mit.edu	37	2	21231069	21231069	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:21231069G>T	ENST00000233242.1	-	26	8798	c.8671C>A	c.(8671-8673)Cac>Aac	p.H2891N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2891					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAATTTGTGGAAGTATTTA	0.428																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8671-8673)Cac>Aac		apolipoprotein B	Atorvastatin(DB01076)						179.0	177.0	178.0					2																	21231069		2203	4299	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231069G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8671C>A	2.37:g.21231069G>T	ENSP00000233242:p.His2891Asn		Somatic					p.H2891N	NM_000384.2	NP_000375	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	8798	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2891					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8671C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149950	0.57151	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01025	5.43	5.51	5.51	0.81932	.	0.000000	0.52532	D	0.000072	T	0.06050	0.0157	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.07654	-1.0761	10	0.66056	D	0.02	.	19.0235	0.92923	0.0:0.0:1.0:0.0	.	2891	P04114	APOB_HUMAN	N	2891	ENSP00000233242:H2891N	ENSP00000233242:H2891N	H	-	1	0	APOB	21084574	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	9.661000	0.98601	2.590000	0.87494	0.555000	0.69702	CAC		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	209	5	209	---	---	---	---
SRD5A2	6716	broad.mit.edu	37	2	31806024	31806024	+	RNA	SNP	C	C	A	rs577957973	byFrequency	TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:31806024C>A	ENST00000405650.1	-	0	112							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	GCGCGGCCCCCGCAACCCCTT	0.726																																						ENST00000405650.1																			0													steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)																																					6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31806024C>A	M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		2.37:g.31806024C>A			Somatic								WXS	Illumina GAIIx	Phase_I	P31213	S5A2_HUMAN			0	112	-	Acute lymphoblastic leukemia(172;0.155)							B2RE87|Q2M1R4|Q9BYE6	RNA	SNP	ENST00000405650.1	37																																																																																						0.726	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	NM_000348		3	23	3	23	---	---	---	---
VPS54	51542	broad.mit.edu	37	2	64208816	64208816	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:64208816C>A	ENST00000272322.4	-	3	496	c.342G>T	c.(340-342)aaG>aaT	p.K114N	VPS54_ENST00000409558.4_Missense_Mutation_p.K102N			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	114					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TAAAATGTTCCTTGCTGATCT	0.358																																						ENST00000409558.4																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(304-306)aaG>aaT		vacuolar protein sorting 54 homolog (S. cerevisiae)							161.0	152.0	155.0					2																	64208816		2203	4300	6503	SO:0001583	missense	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64208816C>A	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.342G>T	2.37:g.64208816C>A	ENSP00000272322:p.Lys114Asn		Somatic				VPS54_ENST00000272322.4_Missense_Mutation_p.K114N	p.K102N	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	WXS	Illumina GAIIx	Phase_I	Q9P1Q0	VPS54_HUMAN			3	460	-								Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	c.306G>T	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173319	0.38413	.	.	ENSG00000143952	ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T	0.31510	1.49;1.49	6.16	3.02	0.34903	.	0.041280	0.85682	D	0.000000	T	0.21267	0.0512	L	0.36672	1.1	0.50313	D	0.999863	P;P	0.41265	0.627;0.744	B;B	0.35813	0.105;0.211	T	0.03025	-1.1081	10	0.24483	T	0.36	.	12.4489	0.55667	0.0:0.7912:0.0:0.2088	.	114;102	Q9P1Q0;Q9P1Q0-4	VPS54_HUMAN;.	N	114;102;102;114	ENSP00000272322:K114N;ENSP00000386980:K102N	ENSP00000272322:K114N	K	-	3	2	VPS54	64062320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.166000	0.31834	0.947000	0.37659	0.650000	0.86243	AAG		0.358	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		5	92	5	92	---	---	---	---
GPR155	151556	broad.mit.edu	37	2	175301023	175301023	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:175301023C>A	ENST00000392552.2	-	16	2672	c.2434G>T	c.(2434-2436)Ggg>Tgg	p.G812W	GPR155_ENST00000392551.2_Missense_Mutation_p.G812W|GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000295500.4_Missense_Mutation_p.G812W	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	812	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATGACTCCCCCTTGTACCAGC	0.483																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(2434-2436)Ggg>Tgg		G protein-coupled receptor 155							159.0	155.0	156.0					2																	175301023		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175301023C>A	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2434G>T	2.37:g.175301023C>A	ENSP00000376335:p.Gly812Trp		Somatic				GPR155_ENST00000295500.4_Missense_Mutation_p.G812W|GPR155_ENST00000392551.2_Missense_Mutation_p.G812W	p.G812W	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	WXS	Illumina GAIIx	Phase_I	Q7Z3F1	GP155_HUMAN			16	2672	-			812			DEP.		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.2434G>T	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000166	0.93227	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.21932	1.98;1.98;1.98	6.17	6.17	0.99709	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54761	-0.8245	10	0.87932	D	0	-10.3303	20.8794	0.99867	0.0:1.0:0.0:0.0	.	812	Q7Z3F1	GP155_HUMAN	W	812	ENSP00000376335:G812W;ENSP00000376334:G812W;ENSP00000295500:G812W	ENSP00000295500:G812W	G	-	1	0	GPR155	175009269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.058000	0.76676	2.941000	0.99782	0.655000	0.94253	GGG		0.483	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		5	190	5	190	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	233925310	233925310	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:233925310C>T	ENST00000359570.5	+	1	122	c.122C>T	c.(121-123)gCg>gTg	p.A41V	INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	41	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGGGCATACGCGCTCTGCGTG	0.612																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(121-123)gCg>gTg		inositol polyphosphate-5-phosphatase, 145kDa							47.0	52.0	50.0					2																	233925310		2078	4202	6280	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233925310C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.122C>T	2.37:g.233925310C>T	ENSP00000352575:p.Ala41Val		Somatic				INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V	p.A41V			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	1	122	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	41			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.122C>T		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861212	0.91433	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.83	3.93	0.45458	SH2 motif (4);	0.179904	0.48286	D	0.000189	D	0.92789	0.7707	.	.	.	0.48236	D	0.999614	D;D	0.89917	0.999;1.0	D;D	0.67103	0.915;0.949	D	0.93471	0.6819	9	0.87932	D	0	.	14.3637	0.66789	0.1492:0.8508:0.0:0.0	.	41;41	Q92835-2;Q92835	.;SHIP1_HUMAN	V	41	ENSP00000409018:A41V;ENSP00000415253:A41V;ENSP00000352575:A41V;ENSP00000441010:A41V	ENSP00000352575:A41V	A	+	2	0	INPP5D	233633554	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.130000	0.77235	1.015000	0.39444	0.485000	0.47835	GCG		0.612	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		12	51	12	51	---	---	---	---
MME	4311	broad.mit.edu	37	3	154861330	154861330	+	Silent	SNP	A	A	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr3:154861330A>G	ENST00000460393.1	+	13	1407	c.1287A>G	c.(1285-1287)gaA>gaG	p.E429E	MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	429					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TTTATGTGGAAGCAGCATTTG	0.413																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1285-1287)gaA>gaG		membrane metallo-endopeptidase	Candoxatril(DB00616)						211.0	207.0	209.0					3																	154861330		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154861330A>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1287A>G	3.37:g.154861330A>G			Somatic				MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E	p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	WXS	Illumina GAIIx	Phase_I	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		13	1407	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	429					A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.1287A>G	CCDS3172.1																																																																																				0.413	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		20	91	20	91	---	---	---	---
TMPRSS11A	339967	broad.mit.edu	37	4	68784775	68784775	+	Missense_Mutation	SNP	G	G	T	rs539520672		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr4:68784775G>T	ENST00000334830.7	-	8	1623	c.877C>A	c.(877-879)Cag>Aag	p.Q293K	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.Q290K|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.Q289K|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	293	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> Q (common polymorphism; may be a susceptibility factor for developing esophageal cancer especially in smoking population; dbSNP:rs353163). {ECO:0000269|PubMed:16267096, ECO:0000269|Ref.2}.		cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						AAACAAATCTGGCGTATGTCA	0.458																																					NSCLC(26;2 894 10941 14480 22546)	ENST00000508048.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(865-867)Cag>Aag		transmembrane protease, serine 11A							151.0	155.0	153.0					4																	68784775		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68784775G>T	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.877C>A	4.37:g.68784775G>T	ENSP00000334611:p.Gln293Lys		Somatic				TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.Q293K|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.Q290K	p.Q289K			WXS	Illumina GAIIx	Phase_I	Q6ZMR5	TM11A_HUMAN			8	900	-			293			Peptidase S1.		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.865C>A	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	G	6.623	0.483356	0.12581	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.36	0.454	0.16644	.	0.000000	0.49916	D	0.000130	T	0.78929	0.4361	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.65817	-0.6076	10	0.35671	T	0.21	.	5.8641	0.18765	0.1473:0.0:0.3457:0.5071	.	290	B5MDI9	.	K	289;293;290;257	ENSP00000426911:Q289K;ENSP00000334611:Q293K;ENSP00000379491:Q290K;ENSP00000427621:Q257K	ENSP00000334611:Q293K	Q	-	1	0	TMPRSS11A	68467370	0.070000	0.21116	0.000000	0.03702	0.137000	0.21094	0.952000	0.29149	-0.267000	0.09325	-0.230000	0.12252	CAG		0.458	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		4	122	4	122	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91229733	91229733	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr4:91229733A>C	ENST00000509176.1	+	2	586	c.298A>C	c.(298-300)Atg>Ctg	p.M100L	CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	100																	TCACAGCAATATGCAGAAACT	0.408																																						ENST00000509176.1																			0											c.(298-300)Atg>Ctg		coiled-coil serine-rich protein 1							107.0	99.0	102.0					4																	91229733		1877	4112	5989	SO:0001583	missense	401145							g.chr4:91229733A>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.298A>C	4.37:g.91229733A>C	ENSP00000425040:p.Met100Leu		Somatic				CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L	p.M100L	NM_001145065.1	NP_001138537.1	WXS	Illumina GAIIx	Phase_I					2	586	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.298A>C	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	5.629	0.300712	0.10678	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.39787	1.61;1.06;1.61	5.18	-0.519	0.11939	.	0.894192	0.10087	N	0.717668	T	0.21427	0.0516	N	0.25647	0.755	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29212	-1.0019	10	0.06757	T	0.87	-2.0694	4.2399	0.10643	0.3561:0.0:0.1718:0.4721	.	100;100;100	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	L	100	ENSP00000425040:M100L;ENSP00000389283:M100L;ENSP00000329482:M100L	ENSP00000329482:M100L	M	+	1	0	FAM190A	91448756	0.998000	0.40836	0.100000	0.21137	0.994000	0.84299	1.369000	0.34227	0.121000	0.18284	0.533000	0.62120	ATG		0.408	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		5	85	5	85	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7626342	7626342	+	Silent	SNP	C	C	A	rs373621272		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:7626342C>A	ENST00000338316.4	+	4	722	c.633C>A	c.(631-633)ctC>ctA	p.L211L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	211					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATAAGCACCTCATGGAACTCG	0.448																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(631-633)ctC>ctA		adenylate cyclase 2 (brain)							159.0	154.0	156.0					5																	7626342		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7626342C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.633C>A	5.37:g.7626342C>A			Somatic					p.L211L	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			4	722	+			211					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.633C>A	CCDS3872.2																																																																																				0.448	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		5	158	5	158	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14363859	14363859	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:14363859T>G	ENST00000344204.4	+	14	2434	c.2410T>G	c.(2410-2412)Tct>Gct	p.S804A	TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	804					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACCTCGAGTCTTGGAATGA	0.438																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(2410-2412)Tct>Gct		trio Rho guanine nucleotide exchange factor							110.0	108.0	108.0					5																	14363859		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14363859T>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2410T>G	5.37:g.14363859T>G	ENSP00000339299:p.Ser804Ala		Somatic				TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A	p.S804A	NM_007118.2	NP_009049.2	WXS	Illumina GAIIx	Phase_I	O75962	TRIO_HUMAN			14	2434	+	Lung NSC(4;0.000742)		804					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2410T>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	7.185	0.590403	0.13812	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.42131	0.98;0.98;0.98	5.03	5.03	0.67393	.	0.119414	0.64402	D	0.000014	T	0.13372	0.0324	N	0.00707	-1.245	0.50632	D	0.999888	B;B;B	0.27416	0.002;0.178;0.012	B;B;B	0.24155	0.005;0.051;0.005	T	0.29822	-0.9999	10	0.05721	T	0.95	.	14.7897	0.69830	0.0:0.0:0.0:1.0	.	755;804;804	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	804;804;755;491	ENSP00000339299:S804A;ENSP00000446348:S804A;ENSP00000445592:S755A	ENSP00000339299:S804A	S	+	1	0	TRIO	14416859	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	4.017000	0.57167	1.908000	0.55244	0.533000	0.62120	TCT		0.438	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		6	85	6	85	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66458987	66458987	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:66458987C>T	ENST00000403625.2	+	29	4275	c.3980C>T	c.(3979-3981)tCc>tTc	p.S1327F	MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000404260.3_Missense_Mutation_p.S1330F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1330	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACTAATTCCTCCCAGAGCAGC	0.552																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3988-3990)tCc>tTc		microtubule associated serine/threonine kinase family member 4							108.0	117.0	114.0					5																	66458987		1934	4118	6052	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66458987C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3980C>T	5.37:g.66458987C>T	ENSP00000385727:p.Ser1327Phe		Somatic				MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F	p.S1330F			WXS	Illumina GAIIx	Phase_I	O15021	MAST4_HUMAN		Lung(70;0.011)	29	4297	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1330			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.3989C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629424	0.87660	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.74	5.74	0.90152	.	0.056550	0.64402	D	0.000001	T	0.70842	0.3270	M	0.85373	2.75	0.52099	D	0.999941	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.74250	-0.3726	10	0.72032	D	0.01	-11.0371	19.9853	0.97342	0.0:1.0:0.0:0.0	.	1330;1138	O15021;O15021-3	MAST4_HUMAN;.	F	1330;1327;1138;1148;1148;1133	ENSP00000385048:S1330F;ENSP00000385727:S1327F;ENSP00000384313:S1138F;ENSP00000384099:S1148F;ENSP00000261569:S1133F	ENSP00000261569:S1133F	S	+	2	0	MAST4	66494743	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.776000	0.85560	2.741000	0.93983	0.549000	0.68633	TCC		0.552	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			12	222	12	222	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140187047	140187047	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:140187047G>T	ENST00000530339.1	+	1	275	c.275G>T	c.(274-276)cGg>cTg	p.R92L	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R92L|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R92L|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGGGAGGAGCTG	0.622																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(274-276)cGg>cTg									71.0	82.0	78.0					5																	140187047		2201	4284	6485	SO:0001583	missense	56144							g.chr5:140187047G>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.275G>T	5.37:g.140187047G>T	ENSP00000435300:p.Arg92Leu		Somatic				PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R92L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R92L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.R92L	NM_018907.2	NP_061730.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	275	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.275G>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.196512	0.79015	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.53423	0.62;0.62;0.62	4.45	4.45	0.53987	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.37809	U	0.001928	D	0.82783	0.5112	H	0.99600	4.65	0.40513	D	0.980752	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	D	0.91621	0.5311	10	0.87932	D	0	.	17.5079	0.87752	0.0:0.0:1.0:0.0	.	92;92;92	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	92	ENSP00000423470:R92L;ENSP00000349344:R92L;ENSP00000435300:R92L	ENSP00000349344:R92L	R	+	2	0	PCDHA4	140167231	0.992000	0.36948	0.997000	0.53966	0.677000	0.39632	6.511000	0.73733	2.215000	0.71742	0.461000	0.40582	CGG		0.622	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		6	262	6	262	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156533896	156533896	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:156533896C>A	ENST00000307851.4	-	2	866	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W	HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Missense_Mutation_p.G46W|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	46	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGAGGTTCCCTGGGGCGGCT	0.562																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(136-138)Ggg>Tgg		hepatitis A virus cellular receptor 2							100.0	101.0	100.0					5																	156533896		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156533896C>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.136G>T	5.37:g.156533896C>A	ENSP00000312002:p.Gly46Trp		Somatic				HAVCR2_ENST00000522593.1_Missense_Mutation_p.G46W|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR	p.G46W	NM_032782.4	NP_116171.3	WXS	Illumina GAIIx	Phase_I	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	866	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	46			Ig-like V-type.		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.136G>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903772	0.52333	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.02656	4.21;4.21	5.06	2.2	0.27929	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.172640	0.05985	N	0.645015	T	0.11495	0.0280	M	0.77313	2.365	0.09310	N	1	D;D	0.89917	1.0;0.998	P;P	0.61533	0.89;0.811	T	0.17289	-1.0374	10	0.87932	D	0	-4.3675	3.1973	0.06637	0.1917:0.5299:0.0:0.2784	.	46;46	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	W	46	ENSP00000312002:G46W;ENSP00000430873:G46W	ENSP00000312002:G46W	G	-	1	0	HAVCR2	156466474	0.020000	0.18652	0.000000	0.03702	0.011000	0.07611	0.819000	0.27308	0.600000	0.29862	0.655000	0.94253	GGG		0.562	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			5	210	5	210	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13228134	13228134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr6:13228134G>A	ENST00000379350.1	+	8	1202	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	358					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGACCTATGGGCCTTCCAGAA	0.483																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1072-1074)gGc>gAc		phosphatase and actin regulator 1							165.0	166.0	166.0					6																	13228134		1940	4141	6081	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13228134G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1073G>A	6.37:g.13228134G>A	ENSP00000368655:p.Gly358Asp		Somatic				PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000379345.2_Intron	p.G358D			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		8	1202	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	358					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1073G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.225531|4.225531	0.79576|0.79576	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	.|T;T;T	.|0.33654	.|1.4;1.44;1.48	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.218683	.|0.48767	.|D	.|0.000173	T|T	0.38214|0.38214	0.1032|0.1032	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.97110	.|1.0;0.922;0.964	T|T	0.41787|0.41787	-0.9489|-0.9489	5|10	.|0.62326	.|D	.|0.03	-20.4581|-20.4581	19.5705|19.5705	0.95413|0.95413	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|427;358;358	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	T|D	193|358;358;427;213	.|ENSP00000368655:G358D;ENSP00000329880:G358D;ENSP00000397669:G213D	.|ENSP00000329880:G358D	A|G	+|+	1|2	0|0	PHACTR1|PHACTR1	13336113|13336113	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.666000|4.666000	0.61554|0.61554	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.483	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		18	160	18	160	---	---	---	---
RPP21	79897	broad.mit.edu	37	6	30314525	30314525	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr6:30314525C>A	ENST00000442966.2	+	5	416	c.403C>A	c.(403-405)Cac>Aac	p.H135N	RPP21_ENST00000428040.2_Missense_Mutation_p.H158N|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.H396N|RPP21_ENST00000433076.2_Missense_Mutation_p.H143N|RPP21_ENST00000436442.2_Missense_Mutation_p.P137Q			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	135					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						AAACACAGCCCACTCCATTTC	0.438																																						ENST00000513556.1																			0											c.(1186-1188)Cac>Aac									215.0	220.0	218.0					6																	30314525		1511	2709	4220	SO:0001583	missense	202658					intracellular	zinc ion binding	g.chr6:30314525C>A	AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"""chromosome 6 open reading frame 135"", ""ribonuclease P 21kDa subunit"""	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.403C>A	6.37:g.30314525C>A	ENSP00000403833:p.His135Asn		Somatic				RPP21_ENST00000442966.2_Missense_Mutation_p.H135N|RPP21_ENST00000433076.2_Missense_Mutation_p.H143N|RPP21_ENST00000436442.2_Missense_Mutation_p.P137Q|RPP21_ENST00000428040.2_Missense_Mutation_p.H158N	p.H396N	NM_001199119.1	NP_001186048.1	WXS	Illumina GAIIx	Phase_I	A6ZJ12	A6ZJ12_HUMAN			10	1186	+			396					A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Missense_Mutation	SNP	ENST00000442966.2	37	c.1186C>A	CCDS4679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.14|10.14	1.267688|1.267688	0.23136|0.23136	.|.	.|.	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370|ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040|ENST00000436442	T;T;T;T|T	0.39787|0.51325	1.06;1.6;1.59;1.59|0.71	4.14|4.14	3.27|3.27	0.37495|0.37495	.|.	0.908127|.	0.09180|.	N|.	0.837632|.	T|T	0.12944|0.12944	0.0314|0.0314	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|P	0.15719|0.36837	0.014;0.0;0.0|0.571	B;B;B|B	0.20955|0.32533	0.032;0.0;0.001|0.147	T|T	0.05386|0.05386	-1.0888|-1.0888	10|9	0.87932|0.30854	D|T	0|0.27	-11.6937|-11.6937	7.5167|7.5167	0.27604|0.27604	0.0:0.8828:0.0:0.1172|0.0:0.8828:0.0:0.1172	.|.	398;135;158|137	F5H2V3;Q9H633;Q9H633-2|Q9H633-3	.;RPP21_HUMAN;.|.	N|Q	398;396;143;135;158|137	ENSP00000424048:H396N;ENSP00000409799:H143N;ENSP00000403833:H135N;ENSP00000394320:H158N|ENSP00000397778:P137Q	ENSP00000394320:H158N|ENSP00000397778:P137Q	H|P	+|+	1|2	0|0	RPP21;TRIM39-RPP21;TRIM39|RPP21	30422504|30422504	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.008000|0.008000	0.06430|0.06430	0.869000|0.869000	0.27996|0.27996	1.083000|1.083000	0.41159|0.41159	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.438	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		5	204	5	204	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97823753	97823753	+	Missense_Mutation	SNP	G	G	T	rs373561525		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:97823753G>T	ENST00000297293.5	+	11	4269	c.3976G>T	c.(3976-3978)Gac>Tac	p.D1326Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1326					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCAACGAGGACGGAAGGCA	0.622																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3976-3978)Gac>Tac		lemur tyrosine kinase 2							105.0	100.0	102.0					7																	97823753		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823753G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3976G>T	7.37:g.97823753G>T	ENSP00000297293:p.Asp1326Tyr		Somatic					p.D1326Y	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	Q8IWU2	LMTK2_HUMAN			11	4269	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1326					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3976G>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798275	0.70567	.	.	ENSG00000164715	ENST00000297293	T	0.80824	-1.42	6.08	5.19	0.71726	.	0.222398	0.53938	D	0.000052	D	0.87038	0.6078	M	0.72118	2.19	0.44254	D	0.997105	D	0.76494	0.999	P	0.60173	0.87	D	0.87772	0.2606	10	0.72032	D	0.01	.	14.7973	0.69886	0.0696:0.0:0.9304:0.0	.	1326	Q8IWU2	LMTK2_HUMAN	Y	1326	ENSP00000297293:D1326Y	ENSP00000297293:D1326Y	D	+	1	0	LMTK2	97661689	1.000000	0.71417	0.923000	0.36655	0.617000	0.37484	4.128000	0.57951	2.894000	0.99253	0.655000	0.94253	GAC		0.622	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		29	89	29	89	---	---	---	---
SLC13A4	26266	broad.mit.edu	37	7	135366383	135366383	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:135366383C>A	ENST00000354042.4	-	16	2498	c.1809G>T	c.(1807-1809)tgG>tgT	p.W603C	SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	603					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGCTAACTCCCCAGGTGTTGA	0.537																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1807-1809)tgG>tgT		solute carrier family 13 (sodium/sulfate symporter), member 4							188.0	133.0	151.0					7																	135366383		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135366383C>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1809G>T	7.37:g.135366383C>A	ENSP00000297282:p.Trp603Cys		Somatic				SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	p.W603C	NM_012450.2	NP_036582.2	WXS	Illumina GAIIx	Phase_I	Q9UKG4	S13A4_HUMAN			16	2498	-			603					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1809G>T	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513469	0.85389	.	.	ENSG00000164707	ENST00000354042	T	0.05649	3.41	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.28267	-1.0049	10	0.87932	D	0	.	16.395	0.83601	0.0:1.0:0.0:0.0	.	472;603	Q59HF0;Q9UKG4	.;S13A4_HUMAN	C	603	ENSP00000297282:W603C	ENSP00000297282:W603C	W	-	3	0	SLC13A4	135016923	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.622000	0.83099	2.742000	0.94016	0.650000	0.86243	TGG		0.537	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		4	49	4	49	---	---	---	---
OR2A2	442361	broad.mit.edu	37	7	143806792	143806792	+	Silent	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:143806792G>T	ENST00000408979.2	+	1	186	c.117G>T	c.(115-117)ctG>ctT	p.L39L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCACCCTGCTGGGGAATGGGG	0.512																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(115-117)ctG>ctT		olfactory receptor, family 2, subfamily A, member 2							170.0	169.0	169.0					7																	143806792		2029	4212	6241	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806792G>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.117G>T	7.37:g.143806792G>T			Somatic					p.L39L	NM_001005480.2	NP_001005480.2	WXS	Illumina GAIIx	Phase_I	Q6IF42	OR2A2_HUMAN			1	186	+	Melanoma(164;0.0783)		39					B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.117G>T	CCDS43671.1																																																																																				0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			5	182	5	182	---	---	---	---
ESYT2	57488	broad.mit.edu	37	7	158534551	158534551	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:158534551G>C	ENST00000251527.5	-	17	1977	c.1912C>G	c.(1912-1914)Cac>Gac	p.H638D	ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	666			S -> G (in dbSNP:rs2305473). {ECO:0000269|PubMed:14702039}.		endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAGTGTTGGTGGTCTGGAGGC	0.478																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(1912-1914)Cac>Gac		extended synaptotagmin-like protein 2							73.0	81.0	78.0					7																	158534551		2198	4295	6493	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158534551G>C	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1912C>G	7.37:g.158534551G>C	ENSP00000251527:p.His638Asp		Somatic				ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	p.H638D	NM_020728.2	NP_065779.1	WXS	Illumina GAIIx	Phase_I	A0FGR8	ESYT2_HUMAN			17	1977	-			666		S -> G (in dbSNP:rs2305473).			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1912C>G	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	G	1.164	-0.642951	0.03531	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.22743	1.94;1.94;1.94	5.75	1.79	0.24919	C2 calcium/lipid-binding domain, CaLB (1);	0.562630	0.20891	N	0.083833	T	0.15392	0.0371	L	0.55481	1.735	0.35696	D	0.815191	B;B	0.22851	0.076;0.025	B;B	0.23574	0.047;0.045	T	0.14839	-1.0458	10	0.12103	T	0.63	-12.6164	4.7828	0.13210	0.3438:0.148:0.5082:0.0	.	638;666	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	638;687;629;73;73;462	ENSP00000251527:H638D;ENSP00000275418:H629D;ENSP00000411488:H73D	ENSP00000251527:H638D	H	-	1	0	ESYT2	158227312	1.000000	0.71417	0.990000	0.47175	0.123000	0.20343	1.791000	0.38744	0.306000	0.22856	-0.142000	0.14014	CAC		0.478	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		26	98	26	98	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68178397	68178397	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:68178397G>C	ENST00000262215.3	-	14	2356	c.1967C>G	c.(1966-1968)cCt>cGt	p.P656R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	656					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.P656H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTGTCTCAGGGTGTTTGAT	0.373																																						ENST00000262215.3																			1	Substitution - Missense(1)	p.P656H(1)	endometrium(1)	breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1966-1968)cCt>cGt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							133.0	123.0	127.0					8																	68178397		2202	4300	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68178397G>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1967C>G	8.37:g.68178397G>C	ENSP00000262215:p.Pro656Arg		Somatic				ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	p.P656R	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		14	2356	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	656					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1967C>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501326	0.44455	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.20200	2.96;2.09	5.83	5.83	0.93111	Armadillo-type fold (1);	0.106577	0.64402	D	0.000003	T	0.16981	0.0408	N	0.20766	0.605	0.80722	D	1	B;B	0.25850	0.136;0.0	B;B	0.26094	0.066;0.002	T	0.08953	-1.0697	10	0.18710	T	0.47	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	656;110	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	R	110;656	ENSP00000428429:P110R;ENSP00000262215:P656R	ENSP00000262215:P656R	P	-	2	0	ARFGEF1	68340951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.771000	0.98977	2.753000	0.94483	0.585000	0.79938	CCT		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		9	42	9	42	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70541903	70541903	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:70541903C>A	ENST00000260128.4	+	19	2990	c.2273C>A	c.(2272-2274)cCg>cAg	p.P758Q	SULF1_ENST00000458141.2_Missense_Mutation_p.P758Q|SULF1_ENST00000402687.4_Missense_Mutation_p.P758Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P758Q|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	758					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGACAGCCCCGTTCTGGAAC	0.522																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2272-2274)cCg>cAg		sulfatase 1							143.0	133.0	137.0					8																	70541903		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70541903C>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2273C>A	8.37:g.70541903C>A	ENSP00000260128:p.Pro758Gln		Somatic				SULF1_ENST00000458141.2_Missense_Mutation_p.P758Q|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P758Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P758Q	p.P758Q	NM_015170.2	NP_055985.2	WXS	Illumina GAIIx	Phase_I	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		19	2990	+	Breast(64;0.0654)		758					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2273C>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751667	0.89753	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	4.75	4.75	0.60458	Alkaline-phosphatase-like, core domain (1);	0.055118	0.85682	D	0.000000	T	0.43678	0.1258	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.53486	-0.8432	10	0.87932	D	0	.	17.9404	0.89025	0.0:1.0:0.0:0.0	.	758	Q8IWU6	SULF1_HUMAN	Q	758	ENSP00000403040:P758Q;ENSP00000260128:P758Q;ENSP00000385704:P758Q;ENSP00000390315:P758Q	ENSP00000260128:P758Q	P	+	2	0	SULF1	70704457	1.000000	0.71417	0.949000	0.38748	0.929000	0.56500	7.622000	0.83099	2.440000	0.82611	0.655000	0.94253	CCG		0.522	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		4	158	4	158	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139180230	139180230	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:139180230G>A	ENST00000395297.1	-	12	1336	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	389										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCAGCGGGGGCATGCTAGT	0.602										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1165-1167)cCc>cTc		family with sequence similarity 135, member B							112.0	120.0	117.0					8																	139180230		2108	4227	6335	SO:0001583	missense	51059							g.chr8:139180230G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1166C>T	8.37:g.139180230G>A	ENSP00000378710:p.Pro389Leu	HNSCC(54;0.14)	Somatic					p.P389L	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1336	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		389					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1166C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543226	0.86022	.	.	ENSG00000147724	ENST00000395297	D	0.93547	-3.24	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97157	0.9835	10	0.87932	D	0	-22.3234	18.6786	0.91539	0.0:0.0:1.0:0.0	.	389	Q49AJ0	F135B_HUMAN	L	389	ENSP00000378710:P389L	ENSP00000276737:P389L	P	-	2	0	FAM135B	139249412	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	8.684000	0.91242	2.824000	0.97209	0.655000	0.94253	CCC		0.602	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		27	111	27	111	---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17273768	17273768	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr9:17273768T>C	ENST00000380647.3	+	6	971	c.887T>C	c.(886-888)gTt>gCt	p.V296A	CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A|CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	296					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGAAAGAAGTTGAAGTATCA	0.308																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(886-888)gTt>gCt		centlein, centrosomal protein							97.0	98.0	98.0					9																	17273768		1821	4073	5894	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17273768T>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.887T>C	9.37:g.17273768T>C	ENSP00000370021:p.Val296Ala		Somatic				CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A	p.V296A			WXS	Illumina GAIIx	Phase_I	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	6	971	+			296					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.887T>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169822	0.38315	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10763	2.84;2.84;3.35;2.84	4.48	4.48	0.54585	.	.	.	.	.	T	0.06781	0.0173	N	0.08118	0	0.23611	N	0.9973	B;B;B	0.18741	0.003;0.003;0.03	B;B;B	0.18561	0.006;0.006;0.022	T	0.31194	-0.9952	9	0.39692	T	0.17	.	12.3066	0.54906	0.0:0.0:0.0:1.0	.	296;296;296	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	A	296	ENSP00000370021:V296A;ENSP00000392798:V296A;ENSP00000262360:V296A;ENSP00000370015:V296A	ENSP00000262360:V296A	V	+	2	0	CNTLN	17263768	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.348000	0.59379	1.788000	0.52465	0.254000	0.18369	GTT		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	83	14	83	---	---	---	---
GBGT1	26301	broad.mit.edu	37	9	136029061	136029061	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr9:136029061G>T	ENST00000372040.3	-	7	1258	c.947C>A	c.(946-948)cCc>cAc	p.P316H	GBGT1_ENST00000540636.1_Missense_Mutation_p.P299H|GBGT1_ENST00000372043.3_3'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	316					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GAGGTACTCGGGGGACAGCAC	0.587																																						ENST00000372040.3																			0				breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10						c.(946-948)cCc>cAc		globoside alpha-1,3-N-acetylgalactosaminyltransferase 1							136.0	129.0	131.0					9																	136029061		2203	4300	6503	SO:0001583	missense	26301							g.chr9:136029061G>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.947C>A	9.37:g.136029061G>T	ENSP00000361110:p.Pro316His		Somatic				GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.P299H|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_3'UTR	p.P316H	NM_001282629.1	NP_001269558.1	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	1258	-								A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.947C>A	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653145	0.88056	.	.	ENSG00000148288	ENST00000372040;ENST00000540636	T;T	0.05513	3.43;3.43	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46541	-0.9184	10	0.87932	D	0	-15.2873	18.0957	0.89489	0.0:0.0:1.0:0.0	.	299;316	B7Z8S5;Q8N5D6	.;GBGT1_HUMAN	H	316;299	ENSP00000361110:P316H;ENSP00000437663:P299H	ENSP00000361110:P316H	P	-	2	0	GBGT1	135018882	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	7.321000	0.79088	2.509000	0.84616	0.561000	0.74099	CCC		0.587	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		6	184	6	184	---	---	---	---
PAPSS2	9060	broad.mit.edu	37	10	89505689	89505689	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:89505689G>A	ENST00000361175.4	+	12	2176	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	603					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AGCATGGAAGGTCCTGACAGA	0.463																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1807-1809)Gtc>Atc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							80.0	88.0	85.0					10																	89505689		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89505689G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1807G>A	10.37:g.89505689G>A	ENSP00000354436:p.Val603Ile		Somatic				PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I	p.V603I	NM_004670.3	NP_004661.2	WXS	Illumina GAIIx	Phase_I	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	12	2176	+		Melanoma(5;0.019)|Colorectal(252;0.123)	603					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1807G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264004	0.59431	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.30714	1.52;1.52;1.52	5.95	5.05	0.67936	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.051225	0.85682	N	0.000000	T	0.24967	0.0606	N	0.19112	0.55	0.80722	D	1	B;P	0.45902	0.023;0.868	B;P	0.46339	0.153;0.513	T	0.02603	-1.1135	10	0.14252	T	0.57	-25.4065	14.9077	0.70733	0.0681:0.0:0.9319:0.0	.	603;608	O95340;O95340-2	PAPS2_HUMAN;.	I	603;608;607;607	ENSP00000354436:V603I;ENSP00000406157:V608I;ENSP00000397123:V607I	ENSP00000354436:V603I	V	+	1	0	PAPSS2	89495669	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	5.473000	0.66774	1.530000	0.49136	0.655000	0.94253	GTC		0.463	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			7	100	7	100	---	---	---	---
CYP2C9	1559	broad.mit.edu	37	10	96741067	96741067	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:96741067C>A	ENST00000260682.6	+	7	1101	c.1089C>A	c.(1087-1089)ccC>ccA	p.P363P		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	363					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACCTTCTCCCCACCAGCCTGC	0.502																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1087-1089)ccC>ccA		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						188.0	154.0	165.0					10																	96741067		2203	4300	6503	SO:0001819	synonymous_variant	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96741067C>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1089C>A	10.37:g.96741067C>A			Somatic					p.P363P	NM_000771.3	NP_000762.2	WXS	Illumina GAIIx	Phase_I	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	7	1101	+		Colorectal(252;0.0902)	363					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	c.1089C>A	CCDS7437.1																																																																																				0.502	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		6	144	6	144	---	---	---	---
NT5C2	22978	broad.mit.edu	37	10	104866420	104866420	+	Silent	SNP	A	A	C	rs146517994		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:104866420A>C	ENST00000404739.3	-	3	242	c.219T>G	c.(217-219)acT>acG	p.T73T	NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000343289.5_Silent_p.T73T			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	73					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ATCTCTCCACAGTAAGCTCAA	0.388																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(217-219)acT>acG		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						149.0	150.0	150.0					10																	104866420		2203	4300	6503	SO:0001819	synonymous_variant	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104866420A>C	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.219T>G	10.37:g.104866420A>C			Somatic				NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000404739.3_Silent_p.T73T	p.T73T	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	WXS	Illumina GAIIx	Phase_I	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	4	306	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	73					B7Z382|D3DR91|Q5JUV5	Silent	SNP	ENST00000404739.3	37	c.219T>G	CCDS7544.1																																																																																				0.388	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		5	164	5	164	---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61607856	61607856	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr11:61607856G>T	ENST00000278840.4	+	3	999	c.369G>T	c.(367-369)atG>atT	p.M123I	FADS2_ENST00000522056.1_Missense_Mutation_p.M92I|FADS2_ENST00000521849.1_Missense_Mutation_p.M123I|FADS2_ENST00000257261.6_Missense_Mutation_p.M101I	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	123					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CTGAGGACATGAACCTGTTCA	0.542																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(367-369)atG>atT		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						174.0	156.0	162.0					11																	61607856		2202	4299	6501	SO:0001583	missense	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607856G>T	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.369G>T	11.37:g.61607856G>T	ENSP00000278840:p.Met123Ile		Somatic				FADS2_ENST00000257261.6_Missense_Mutation_p.M101I|FADS2_ENST00000521849.1_Missense_Mutation_p.M123I|FADS2_ENST00000522056.1_Missense_Mutation_p.M92I	p.M123I	NM_004265.2	NP_004256.1	WXS	Illumina GAIIx	Phase_I	O95864	FADS2_HUMAN			3	999	+			123					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	c.369G>T	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785091	0.49997	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000518606;ENST00000278840;ENST00000517312;ENST00000521849	T;T;T;T;T;T	0.50548	1.93;1.93;1.26;1.95;0.74;1.94	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000002	T	0.66665	0.2812	M	0.86651	2.83	0.41184	D	0.986252	B;B;P;P	0.41041	0.399;0.167;0.736;0.721	B;B;P;P	0.51193	0.096;0.104;0.662;0.454	T	0.70659	-0.4811	10	0.40728	T	0.16	-15.9121	17.3087	0.87202	0.0:0.0:1.0:0.0	.	92;123;123;101	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	I	101;92;1;123;1;123	ENSP00000257261:M101I;ENSP00000429500:M92I;ENSP00000430054:M1I;ENSP00000278840:M123I;ENSP00000430225:M1I;ENSP00000431091:M123I	ENSP00000257261:M101I	M	+	3	0	FADS2	61364432	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.277000	0.58939	2.414000	0.81942	0.436000	0.28706	ATG		0.542	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		5	155	5	155	---	---	---	---
P2RX2	22953	broad.mit.edu	37	12	133197878	133197878	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr12:133197878C>A	ENST00000389110.3	+	9	980	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	P2RX2_ENST00000449132.2_Missense_Mutation_p.R281S|P2RX2_ENST00000350048.5_Missense_Mutation_p.R291S|P2RX2_ENST00000343948.4_Missense_Mutation_p.R315S|P2RX2_ENST00000352418.4_Missense_Mutation_p.R243S|P2RX2_ENST00000348800.5_Missense_Mutation_p.R315S|P2RX2_ENST00000351222.4_Missense_Mutation_p.R223S	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	315					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CACCACCACCCGCACGCTCAT	0.612																																						ENST00000389110.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.(943-945)Cgc>Agc		purinergic receptor P2X, ligand-gated ion channel, 2							196.0	175.0	182.0					12																	133197878		2203	4300	6503	SO:0001583	missense	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133197878C>A	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.943C>A	12.37:g.133197878C>A	ENSP00000373762:p.Arg315Ser		Somatic				P2RX2_ENST00000352418.4_Missense_Mutation_p.R243S|P2RX2_ENST00000348800.5_Missense_Mutation_p.R315S|P2RX2_ENST00000351222.4_Missense_Mutation_p.R223S|P2RX2_ENST00000343948.4_Missense_Mutation_p.R315S|P2RX2_ENST00000350048.5_Missense_Mutation_p.R291S|P2RX2_ENST00000449132.2_Missense_Mutation_p.R281S	p.R315S	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	WXS	Illumina GAIIx	Phase_I	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	9	980	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	315					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.943C>A	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429465	0.83776	.	.	ENSG00000187848	ENST00000389110;ENST00000449132;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	4.96	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.93594	3.435	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	T	0.60449	-0.7261	10	0.72032	D	0.01	-31.9191	14.4493	0.67374	0.1476:0.8524:0.0:0.0	.	315;281;223;243;291;315;315;315	Q32MC3;Q9UBL9-7;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.;.;.;.;.;.;P2RX2_HUMAN;.	S	315;281;315;243;291;223;315	ENSP00000373762:R315S;ENSP00000405531:R281S;ENSP00000343339:R315S;ENSP00000341419:R243S;ENSP00000343904:R291S;ENSP00000344502:R223S;ENSP00000345095:R315S	ENSP00000343339:R315S	R	+	1	0	P2RX2	131707951	0.987000	0.35691	0.999000	0.59377	0.881000	0.50899	2.745000	0.47459	2.584000	0.87258	0.561000	0.74099	CGC		0.612	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			5	207	5	207	---	---	---	---
SAV1	60485	broad.mit.edu	37	14	51132078	51132078	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr14:51132078C>A	ENST00000324679.4	-	2	717	c.354G>T	c.(352-354)acG>acT	p.T118T	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	118					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AACTAACTTCCGTTACAAATG	0.403																																						ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(352-354)acG>acT		salvador homolog 1 (Drosophila)							27.0	26.0	26.0					14																	51132078		2202	4295	6497	SO:0001819	synonymous_variant	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132078C>A	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.354G>T	14.37:g.51132078C>A			Somatic					p.T118T	NM_021818.3	NP_068590.1	WXS	Illumina GAIIx	Phase_I	Q9H4B6	SAV1_HUMAN			2	717	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		118					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Silent	SNP	ENST00000324679.4	37	c.354G>T	CCDS9701.1																																																																																				0.403	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			3	19	3	19	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23890498	23890498	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:23890498G>A	ENST00000532292.1	-	1	677	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	78					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGAGGCAGGCTGAAACTGG	0.582																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(583-585)Cct>Tct		MAGE-like 2							68.0	74.0	72.0					15																	23890498		2023	4192	6215	SO:0001583	missense	54551							g.chr15:23890498G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.583C>T	15.37:g.23890498G>A	ENSP00000433433:p.Pro195Ser		Somatic					p.P195S	NM_019066.4	NP_061939.3	WXS	Illumina GAIIx	Phase_I				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	677	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.583C>T																																																																																					0.582	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		8	89	8	89	---	---	---	---
FAM214A	56204	broad.mit.edu	37	15	52901525	52901525	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:52901525T>G	ENST00000261844.7	-	6	1738	c.1586A>C	c.(1585-1587)aAt>aCt	p.N529T	FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	529																	CTTCAACAAATTTTTGTCTTC	0.383																																						ENST00000261844.7																			0											c.(1585-1587)aAt>aCt		family with sequence similarity 214, member A							77.0	74.0	75.0					15																	52901525		1835	4100	5935	SO:0001583	missense	56204							g.chr15:52901525T>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1586A>C	15.37:g.52901525T>G	ENSP00000261844:p.Asn529Thr		Somatic				FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	p.N529T	NM_019600.2	NP_062546.2	WXS	Illumina GAIIx	Phase_I	Q32MH5	K1370_HUMAN			6	1738	-			529					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.1586A>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	6.094	0.385595	0.11524	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.28895	1.59;1.59	6.17	3.7	0.42460	.	0.513373	0.23354	N	0.049095	T	0.21186	0.0510	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.003	T	0.16335	-1.0406	10	0.09843	T	0.71	.	14.2781	0.66194	0.0:0.0:0.252:0.748	.	536;529	F5H8G0;Q32MH5	.;K1370_HUMAN	T	529;529;528;536	ENSP00000261844:N529T;ENSP00000443598:N536T	ENSP00000261844:N529T	N	-	2	0	KIAA1370	50688817	0.986000	0.35501	0.305000	0.25099	0.996000	0.88848	1.771000	0.38542	1.134000	0.42165	0.533000	0.62120	AAT		0.383	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		31	85	31	85	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89400579	89400579	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:89400579G>T	ENST00000561243.1	+	11	4763	c.4763G>T	c.(4762-4764)gGg>gTg	p.G1588V	ACAN_ENST00000559004.1_Missense_Mutation_p.G1588V|ACAN_ENST00000439576.2_Missense_Mutation_p.G1588V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1588V			P16112	PGCA_HUMAN	aggrecan	1622	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACCTCAGTGGGTTGCCTTCT	0.537																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4762-4764)gGg>gTg		aggrecan							96.0	100.0	98.0					15																	89400579		1883	4128	6011	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400579G>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4763G>T	15.37:g.89400579G>T	ENSP00000453342:p.Gly1588Val		Somatic				ACAN_ENST00000561243.1_Missense_Mutation_p.G1588V|ACAN_ENST00000559004.1_Missense_Mutation_p.G1588V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1588V	p.G1588V	NM_013227.3	NP_037359.3	WXS	Illumina GAIIx	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5137	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1588					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4763G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591256	0.46214	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.98849	-5.18;-5.18	5.56	3.67	0.42095	.	0.253832	0.20781	N	0.085795	D	0.98883	0.9622	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.971	D	0.98829	1.0750	10	0.66056	D	0.02	-7.9197	10.5473	0.45068	0.0726:0.1335:0.7938:0.0	.	1588;1588	E7ENV9;E7EX88	.;.	V	1588;1588;1474	ENSP00000387356:G1588V;ENSP00000341615:G1588V	ENSP00000268134:G1474V	G	+	2	0	ACAN	87201583	1.000000	0.71417	0.193000	0.23327	0.861000	0.49209	4.122000	0.57910	0.701000	0.31803	0.561000	0.74099	GGG		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	165	5	165	---	---	---	---
MCTP2	55784	broad.mit.edu	37	15	95013613	95013613	+	Silent	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:95013613G>A	ENST00000357742.4	+	20	2412	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	MCTP2_ENST00000451018.3_Silent_p.L749L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	804					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTTTGATTCTGGCAGCAGCCA	0.418																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(2410-2412)ctG>ctA		multiple C2 domains, transmembrane 2							194.0	185.0	188.0					15																	95013613		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:95013613G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2412G>A	15.37:g.95013613G>A			Somatic				MCTP2_ENST00000451018.3_Silent_p.L749L	p.L804L	NM_018349.3	NP_060819.3	WXS	Illumina GAIIx	Phase_I	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		20	2412	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		804					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.2412G>A	CCDS32338.1																																																																																				0.418	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		4	171	4	171	---	---	---	---
LUC7L	55692	broad.mit.edu	37	16	242931	242931	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:242931G>C	ENST00000293872.8	-	7	881	c.771C>G	c.(769-771)agC>agG	p.S257R	LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000337351.4_Missense_Mutation_p.S257R|LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	257	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTCACCTCCTGCTCAGACGCT	0.552																																						ENST00000337351.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11						c.(769-771)agC>agG		LUC7-like (S. cerevisiae)							224.0	196.0	205.0					16																	242931		2203	4300	6503	SO:0001583	missense	55692						metal ion binding	g.chr16:242931G>C	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.771C>G	16.37:g.242931G>C	ENSP00000293872:p.Ser257Arg		Somatic				LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R|LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000293872.8_Missense_Mutation_p.S257R	p.S257R	NM_018032.3	NP_060502.1	WXS	Illumina GAIIx	Phase_I	Q9NQ29	LUC7L_HUMAN			7	894	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	257			Arg/Ser-rich.		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	37	c.771C>G	CCDS32348.1	.	.	.	.	.	.	.	.	.	.	G	4.090	0.014667	0.07959	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780;ENST00000430864	T;T;T;T	0.45668	0.89;0.89;0.97;3.62	5.13	0.907	0.19321	.	0.308092	0.41001	D	0.000969	T	0.15782	0.0380	N	0.03608	-0.345	0.24468	N	0.994406	B	0.02656	0.0	B	0.01281	0.0	T	0.29027	-1.0025	10	0.08599	T	0.76	.	9.7812	0.40649	0.3051:0.0:0.6949:0.0	.	257	Q9NQ29	LUC7L_HUMAN	R	257;257;257;56;204;171	ENSP00000337507:S257R;ENSP00000380885:S257R;ENSP00000413033:S56R;ENSP00000380882:S204R	ENSP00000293872:S257R	S	-	3	2	LUC7L	182932	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.204000	0.17335	0.277000	0.22141	0.462000	0.41574	AGC		0.552	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1			16	229	16	229	---	---	---	---
C16orf89	146556	broad.mit.edu	37	16	5094359	5094359	+	3'UTR	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:5094359C>T	ENST00000315997.5	-	0	1635				C16orf89_ENST00000422873.1_Missense_Mutation_p.S397N|RP11-165E7.1_ENST00000588778.1_RNA|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000474471.3_3'UTR|C16orf89_ENST00000350219.4_3'UTR	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TCAGCGGCTGCTTGGTGGTGG	0.602																																						ENST00000422873.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(1189-1191)aGc>aAc		chromosome 16 open reading frame 89							61.0	71.0	68.0					16																	5094359		2089	4209	6298	SO:0001624	3_prime_UTR_variant	146556					extracellular region		g.chr16:5094359C>T		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.*225G>A	16.37:g.5094359C>T			Somatic				C16orf89_ENST00000315997.5_3'UTR|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000474471.3_3'UTR|ALG1_ENST00000588623.1_Intron	p.S397N	NM_001098514.2	NP_001091984.2	WXS	Illumina GAIIx	Phase_I	Q6UX73	CP089_HUMAN			8	1277	-			0					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.1190G>A	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	C	8.512	0.866771	0.17250	.	.	ENSG00000153446	ENST00000472572;ENST00000422873	T;T	0.34472	1.46;1.36	4.0	-1.39	0.08997	.	.	.	.	.	T	0.12902	0.0313	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.33727	-0.9857	9	0.02654	T	1	.	8.0503	0.30575	0.0:0.6293:0.0:0.3707	.	397	G3V0F0	.	N	359;397	ENSP00000420566:S359N;ENSP00000390402:S397N	ENSP00000390402:S397N	S	-	2	0	C16orf89	5034360	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-1.935000	0.01550	-0.484000	0.06763	0.448000	0.29417	AGC		0.602	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		9	111	9	111	---	---	---	---
GDPD3	79153	broad.mit.edu	37	16	30122799	30122799	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:30122799C>A	ENST00000406256.3	-	7	994	c.617G>T	c.(616-618)tGg>tTg	p.W206L	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	206	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AAGCAGCACCCAGAATCCTCG	0.557																																						ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(616-618)tGg>tTg		glycerophosphodiester phosphodiesterase domain containing 3							133.0	135.0	135.0					16																	30122799		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30122799C>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.617G>T	16.37:g.30122799C>A	ENSP00000384363:p.Trp206Leu		Somatic					p.W206L	NM_024307.2	NP_077283.2	WXS	Illumina GAIIx	Phase_I	Q7L5L3	GDPD3_HUMAN			7	994	-			206			GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.617G>T	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.392916	0.01185	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.29397	1.57	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.502196	0.22510	N	0.059106	T	0.22551	0.0544	L	0.29908	0.895	0.34287	D	0.682776	B	0.06786	0.001	B	0.06405	0.002	T	0.17992	-1.0351	10	0.10902	T	0.67	.	15.107	0.72329	0.0:1.0:0.0:0.0	.	206	Q7L5L3	GDPD3_HUMAN	L	206;144	ENSP00000384363:W206L	ENSP00000353909:W144L	W	-	2	0	GDPD3	30030300	0.685000	0.27652	0.431000	0.26735	0.021000	0.10359	3.385000	0.52485	2.615000	0.88500	0.655000	0.94253	TGG		0.557	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		5	176	5	176	---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84050752	84050752	+	Missense_Mutation	SNP	G	G	T	rs192615462	byFrequency	TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:84050752G>T	ENST00000299709.3	-	7	945	c.946C>A	c.(946-948)Ctg>Atg	p.L316M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	316					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCTCCCCAGGAAGAGCACG	0.567																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(946-948)Ctg>Atg		solute carrier family 38, member 8							86.0	70.0	75.0					16																	84050752		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050752G>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.946C>A	16.37:g.84050752G>T	ENSP00000299709:p.Leu316Met		Somatic					p.L316M	NM_001080442.1	NP_001073911.1	WXS	Illumina GAIIx	Phase_I	A6NNN8	S38A8_HUMAN			7	945	-			316						Missense_Mutation	SNP	ENST00000299709.3	37	c.946C>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137847	0.56936	.	.	ENSG00000166558	ENST00000299709	T	0.02395	4.31	4.75	3.79	0.43588	.	0.285558	0.28618	U	0.014714	T	0.10766	0.0263	M	0.63843	1.955	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.01375	-1.1371	10	0.49607	T	0.09	-11.7939	9.1687	0.37067	0.18:0.0:0.82:0.0	.	316	A6NNN8	S38A8_HUMAN	M	316	ENSP00000299709:L316M	ENSP00000299709:L316M	L	-	1	2	SLC38A8	82608253	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.161000	0.58170	0.993000	0.38866	0.478000	0.44815	CTG		0.567	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		4	53	4	53	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5085657	5085657	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:5085657G>A	ENST00000399604.4	-	1	2035	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F			Q96JF6	ZN594_HUMAN	zinc finger protein 594	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACCCCTAAAAGATTTCCCACA	0.398																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1894-1896)tCt>tTt		zinc finger protein 594							129.0	137.0	134.0					17																	5085657		2109	4270	6379	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085657G>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1895C>T	17.37:g.5085657G>A	ENSP00000382513:p.Ser632Phe		Somatic				ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F	p.S632F			WXS	Illumina GAIIx	Phase_I	Q96JF6	ZN594_HUMAN			1	2035	-			632					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1895C>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	g	10.14	1.268606	0.23136	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.36520	1.25	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48572	0.1507	M	0.64630	1.985	0.09310	N	1	D	0.71674	0.998	D	0.63597	0.916	T	0.24225	-1.0166	9	0.62326	D	0.03	.	5.5765	0.17227	0.0:0.3527:0.6473:0.0	.	632	Q96JF6	ZN594_HUMAN	F	632;227	ENSP00000382513:S632F	ENSP00000373874:S227F	S	-	2	0	ZNF594	5026381	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.178000	0.09782	0.776000	0.33473	0.393000	0.25936	TCT		0.398	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		11	174	11	174	---	---	---	---
JUP	3728	broad.mit.edu	37	17	39919332	39919332	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:39919332G>T	ENST00000393931.3	-	8	1518	c.1400C>A	c.(1399-1401)cCt>cAt	p.P467H	JUP_ENST00000393930.1_Missense_Mutation_p.P467H|JUP_ENST00000310706.5_Missense_Mutation_p.P467H|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	467					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCGGCCTCAGGGTGGCGGCT	0.617																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1399-1401)cCt>cAt		junction plakoglobin							90.0	78.0	82.0					17																	39919332		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39919332G>T	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1400C>A	17.37:g.39919332G>T	ENSP00000377508:p.Pro467His		Somatic				JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.P467H|JUP_ENST00000310706.5_Missense_Mutation_p.P467H	p.P467H	NM_002230.2	NP_002221.1	WXS	Illumina GAIIx	Phase_I	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1518	-		Breast(137;0.000162)	467					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1400C>A	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626913	0.46840	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.69806	-0.43;-0.43;-0.43	5.17	4.16	0.48862	Armadillo-like helical (1);Armadillo-type fold (1);	0.156878	0.64402	D	0.000020	T	0.69584	0.3127	M	0.70595	2.14	0.80722	D	1	P	0.52463	0.953	P	0.47981	0.563	T	0.73799	-0.3869	10	0.59425	D	0.04	-30.3359	12.3975	0.55393	0.0:0.0:0.7092:0.2908	.	467	P14923	PLAK_HUMAN	H	467	ENSP00000377507:P467H;ENSP00000311113:P467H;ENSP00000377508:P467H	ENSP00000311113:P467H	P	-	2	0	JUP	37172858	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	3.248000	0.51430	2.681000	0.91329	0.561000	0.74099	CCT		0.617	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			4	69	4	69	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	rs193921065		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:47696424G>T	ENST00000393328.2	-	6	764	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttA		speckle-type POZ protein							118.0	120.0	119.0					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>A	17.37:g.47696424G>T	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)	Somatic				SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981900	0.74474	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		27	117	27	117	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76803039	76803039	+	Splice_Site	SNP	A	A	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:76803039A>C	ENST00000542802.3	-	14	2529		c.e14+1		USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000312010.6_Splice_Site			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCACACACCCACCTTCTTGGC	0.567																																						ENST00000542802.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.e14+1		ubiquitin specific peptidase 36							106.0	96.0	99.0					17																	76803039		2203	4300	6503	SO:0001630	splice_region_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76803039A>C	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2085+1T>G	17.37:g.76803039A>C			Somatic				USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000312010.6_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	2529	-								Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Splice_Site	SNP	ENST00000542802.3	37		CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521070	0.85495	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3163	0.60409	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP36	74314634	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.248000	0.89832	1.974000	0.57490	0.533000	0.62120	.		0.567	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	Intron	8	90	8	90	---	---	---	---
SS18	6760	broad.mit.edu	37	18	23612376	23612376	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr18:23612376T>G	ENST00000415083.2	-	10	1272	c.1217A>C	c.(1216-1218)tAt>tCt	p.Y406S	SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S|SS18_ENST00000545952.1_Missense_Mutation_p.Y323S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	406	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCATATCCATAAGGCCTCTG	0.453			T	"""SSX1,  SSX2"""	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	"""SSX1,  SSX2"""		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(1216-1218)tAt>tCt		synovial sarcoma translocation, chromosome 18							212.0	190.0	197.0					18																	23612376		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23612376T>G	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1217A>C	18.37:g.23612376T>G	ENSP00000414516:p.Tyr406Ser		Somatic				SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S	p.Y406S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	WXS	Illumina GAIIx	Phase_I	Q15532	SSXT_HUMAN			10	1272	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		406			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.1217A>C	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342808	0.61073	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.46063	0.88;1.0;0.99;0.97;0.99	5.01	5.01	0.66863	.	0.056198	0.64402	D	0.000001	T	0.37210	0.0995	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.30482	0.18;0.281;0.281	B;B;B	0.22753	0.041;0.041;0.041	T	0.34329	-0.9833	10	0.87932	D	0	-5.8679	15.0182	0.71605	0.0:0.0:0.0:1.0	.	323;375;406	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	409;406;375;383;323;324;323;121	ENSP00000269137:Y375S;ENSP00000438066:Y383S;ENSP00000444551:Y323S;ENSP00000444647:Y324S;ENSP00000443097:Y323S	ENSP00000269137:Y375S	Y	-	2	0	SS18	21866374	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.655000	0.83696	2.014000	0.59158	0.383000	0.25322	TAT		0.453	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			6	196	6	196	---	---	---	---
AQP4	361	broad.mit.edu	37	18	24436180	24436180	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr18:24436180C>A	ENST00000383168.4	-	5	1095	c.967G>T	c.(967-969)Gta>Tta	p.V323L	AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.V301L|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'Flank|AQP4_ENST00000581374.1_Missense_Mutation_p.V301L	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	323					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCTAGTCATACTGAAGACAAT	0.433																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(967-969)Gta>Tta		aquaporin 4							245.0	225.0	232.0					18																	24436180		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436180C>A	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.967G>T	18.37:g.24436180C>A	ENSP00000372654:p.Val323Leu		Somatic				AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.V301L|AQP4_ENST00000440832.3_Missense_Mutation_p.V301L|AQP4-AS1_ENST00000582605.1_RNA	p.V323L	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	WXS	Illumina GAIIx	Phase_I	P55087	AQP4_HUMAN			5	1095	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		323					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.967G>T	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289513	0.95517	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.87412	-2.25	5.84	5.84	0.93424	.	0.168688	0.51477	D	0.000099	D	0.85195	0.5641	L	0.27053	0.805	0.80722	D	1	P	0.51351	0.944	P	0.46796	0.527	D	0.86931	0.2073	10	0.87932	D	0	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	323	P55087	AQP4_HUMAN	L	323;303;219	ENSP00000372654:V323L	ENSP00000372654:V323L	V	-	1	0	AQP4	22690178	1.000000	0.71417	0.971000	0.41717	0.895000	0.52256	7.154000	0.77437	2.764000	0.94973	0.650000	0.86243	GTA		0.433	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		4	239	4	239	---	---	---	---
ZNF845	91664	broad.mit.edu	37	19	53855875	53855875	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr19:53855875C>A	ENST00000595091.1	+	5	2166	c.1947C>A	c.(1945-1947)aaC>aaA	p.N649K	ZNF845_ENST00000458035.1_Missense_Mutation_p.N649K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAAATCAAACCTTCAAAGAC	0.398																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1945-1947)aaC>aaA		zinc finger protein 845							20.0	19.0	19.0					19																	53855875		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855875C>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1947C>A	19.37:g.53855875C>A	ENSP00000470005:p.Asn649Lys		Somatic				ZNF845_ENST00000595091.1_Missense_Mutation_p.N649K	p.N649K	NM_138374.1	NP_612383.1	WXS	Illumina GAIIx	Phase_I	Q96IR2	ZN845_HUMAN			4	2064	+			649						Missense_Mutation	SNP	ENST00000595091.1	37	c.1947C>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.691599	0.00731	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07021	3.23	1.82	-0.787	0.10943	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.21373	0.66	0.09310	N	1	P	0.47677	0.899	B	0.42653	0.394	T	0.15694	-1.0428	9	0.05959	T	0.93	.	2.8072	0.05431	0.2143:0.4937:0.0:0.292	.	649	Q96IR2	ZN845_HUMAN	K	649	ENSP00000388311:N649K	ENSP00000412086:N649K	N	+	3	2	ZNF845	58547687	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.101000	0.01344	-0.303000	0.08856	0.306000	0.20318	AAC		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	36	3	36	---	---	---	---
ZFP28	140612	broad.mit.edu	37	19	57065372	57065372	+	Silent	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr19:57065372G>T	ENST00000301318.3	+	8	1289	c.1218G>T	c.(1216-1218)gtG>gtT	p.V406V	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAAGTTCAGTGGTAATAAAAC	0.318																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1216-1218)gtG>gtT		ZFP28 zinc finger protein							59.0	68.0	65.0					19																	57065372		2202	4296	6498	SO:0001819	synonymous_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065372G>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1218G>T	19.37:g.57065372G>T			Somatic				AC007228.11_ENST00000596587.1_RNA	p.V406V	NM_020828.1	NP_065879.1	WXS	Illumina GAIIx	Phase_I	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1289	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	406					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	c.1218G>T	CCDS12946.1																																																																																				0.318	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		5	126	5	126	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58549488	58549488	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr19:58549488G>T	ENST00000282326.1	+	3	531	c.284G>T	c.(283-285)cGg>cTg	p.R95L	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R95L|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R95L	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	95	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCAAGATGCGGACCTGGGTG	0.687																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(283-285)cGg>cTg		zinc finger and SCAN domain containing 1							15.0	15.0	15.0					19																	58549488		2197	4290	6487	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549488G>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.284G>T	19.37:g.58549488G>T	ENSP00000282326:p.Arg95Leu		Somatic				ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R95L|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R95L	p.R95L	NM_182572.3	NP_872378.3	WXS	Illumina GAIIx	Phase_I	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	531	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	95			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.284G>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057795	0.76074	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04917	3.53;3.53	2.21	1.13	0.20643	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.17704	0.0425	M	0.73598	2.24	0.09310	N	1	D;D	0.71674	0.98;0.998	P;D	0.65987	0.908;0.94	T	0.08229	-1.0732	9	0.66056	D	0.02	.	4.4503	0.11617	0.207:0.0:0.793:0.0	.	95;95	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	L	95	ENSP00000375581:R95L;ENSP00000282326:R95L	ENSP00000282326:R95L	R	+	2	0	ZSCAN1	63241300	0.000000	0.05858	0.003000	0.11579	0.970000	0.65996	-0.297000	0.08276	0.254000	0.21573	0.393000	0.25936	CGG		0.687	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		5	20	5	20	---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47423618	47423618	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr21:47423618C>T	ENST00000361866.3	+	35	2892	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	926	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TGACCCGCTTCTACCGCGAGG	0.642																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2776-2778)ttC>ttT		collagen, type VI, alpha 1	Palifermin(DB00039)						33.0	27.0	30.0					21																	47423618		2202	4299	6501	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423618C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2778C>T	21.37:g.47423618C>T			Somatic				COL6A1_ENST00000498614.1_3'UTR	p.F926F	NM_001848.2	NP_001839.2	WXS	Illumina GAIIx	Phase_I	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2892	+	all_hematologic(128;0.24)		926			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2778C>T	CCDS13727.1																																																																																				0.642	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		7	27	7	27	---	---	---	---
RNF215	200312	broad.mit.edu	37	22	30776081	30776081	+	Silent	SNP	C	C	A	rs567963097		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr22:30776081C>A	ENST00000382363.3	-	7	1052	c.978G>T	c.(976-978)gcG>gcT	p.A326A	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(976-978)gcG>gcT		ring finger protein 215							79.0	86.0	84.0					22																	30776081		2203	4300	6503	SO:0001819	synonymous_variant	200312					integral to membrane	zinc ion binding	g.chr22:30776081C>A		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.978G>T	22.37:g.30776081C>A			Somatic					p.A326A	NM_001017981.1	NP_001017981.1	WXS	Illumina GAIIx	Phase_I	Q9Y6U7	RN215_HUMAN			7	1052	-			326					A6NEL1	Silent	SNP	ENST00000382363.3	37	c.978G>T	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.369348	0.01225	.	.	ENSG00000099999	ENST00000215798	.	.	.	3.86	-7.73	0.01245	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.50313	D	0.999861	.	.	.	.	.	.	T	0.57602	-0.7783	4	.	.	.	-3.9113	6.4576	0.21938	0.2231:0.0885:0.5144:0.174	.	.	.	.	C	264	.	.	G	-	1	0	RNF215	29106081	0.000000	0.05858	0.066000	0.19879	0.026000	0.11368	-3.877000	0.00344	-3.990000	0.00084	-2.061000	0.00397	GGT		0.647	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		4	147	4	147	---	---	---	---
ACR	49	broad.mit.edu	37	22	51178322	51178322	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr22:51178322G>A	ENST00000216139.5	+	3	522	c.482G>A	c.(481-483)gGc>gAc	p.G161D	ACR_ENST00000529621.1_Missense_Mutation_p.G161D|AC002056.5_ENST00000532913.1_RNA|AC000036.4_ENST00000449652.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGGGCCGGGCTGCCTGCCC	0.567																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(481-483)gGc>gAc		acrosin							63.0	70.0	68.0					22																	51178322		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51178322G>A	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.482G>A	22.37:g.51178322G>A	ENSP00000216139:p.Gly161Asp		Somatic				ACR_ENST00000529621.1_Missense_Mutation_p.G161D	p.G161D	NM_001097.2	NP_001088.2	WXS	Illumina GAIIx	Phase_I	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	3	522	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	161			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.482G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	g	17.39	3.378366	0.61735	.	.	ENSG00000100312	ENST00000216139;ENST00000529621	T;D	0.92858	0.28;-3.12	4.52	0.904	0.19302	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.408062	0.18094	N	0.151898	D	0.91626	0.7354	N	0.19112	0.55	0.23720	N	0.997023	D;D	0.89917	0.997;1.0	D;D	0.91635	0.995;0.999	D	0.85534	0.1211	10	0.54805	T	0.06	-9.7265	13.7399	0.62840	0.0:0.6254:0.3746:0.0	.	161;161	E9PLV5;P10323	.;ACRO_HUMAN	D	161	ENSP00000216139:G161D;ENSP00000435120:G161D	ENSP00000216139:G161D	G	+	2	0	ACR	49525188	0.055000	0.20627	0.722000	0.30670	0.934000	0.57294	0.017000	0.13399	0.607000	0.29982	0.455000	0.32223	GGC		0.567	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		18	104	18	104	---	---	---	---
