#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HIPK1	204851	broad.mit.edu	37	1	114483187	114483187	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:114483187A>G	ENST00000369558.1	+	2	414	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	61					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q61R(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCTCACCAGGTAGCAAAT	0.537																																						ENST00000369558.1																			3	Substitution - Missense(3)	p.Q61R(3)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(181-183)cAg>cGg		homeodomain interacting protein kinase 1							205.0	207.0	206.0					1																	114483187		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483187A>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.182A>G	1.37:g.114483187A>G	ENSP00000358571:p.Gln61Arg					HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R	p.Q61R			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	414	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	61					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.182A>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829284	0.50845	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.77;0.74;0.74;0.77;0.77;0.81;0.8	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000013	T	0.41305	0.1153	N	0.22421	0.69	0.80722	D	1	P;P	0.48294	0.851;0.908	P;D	0.64144	0.775;0.922	T	0.32903	-0.9889	10	0.27785	T	0.31	.	15.1417	0.72615	1.0:0.0:0.0:0.0	.	61;61	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	R	132;61;61;61;61;61;61;61;61	ENSP00000407442:Q132R;ENSP00000358572:Q61R;ENSP00000409673:Q61R;ENSP00000358567:Q61R;ENSP00000358568:Q61R;ENSP00000358571:Q61R;ENSP00000358574:Q61R;ENSP00000422322:Q61R;ENSP00000426695:Q61R	ENSP00000358567:Q61R	Q	+	2	0	HIPK1	114284710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.783000	0.68982	1.969000	0.57287	0.528000	0.53228	CAG		0.537	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		15	227	15	227	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158577155	158577155	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158577155G>T	ENST00000361284.1	+	1	927	c.927G>T	c.(925-927)ttG>ttT	p.L309F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L309F(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGGAGATTGCTGGGTAAAG	0.478																																						ENST00000361284.1																			1	Substitution - Missense(1)	p.L309F(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(925-927)ttG>ttT		olfactory receptor, family 10, subfamily Z, member 1							109.0	111.0	110.0					1																	158577155		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577155G>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.927G>T	1.37:g.158577155G>T	ENSP00000354707:p.Leu309Phe						p.L309F	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	927	+	all_hematologic(112;0.0378)		309					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.927G>T	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	3.809	-0.040080	0.07497	.	.	ENSG00000198967	ENST00000361284	T	0.00532	6.75	5.57	-10.8	0.00216	.	0.323861	0.17213	N	0.182643	T	0.00073	0.0002	N	0.16656	0.425	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.51934	-0.8642	10	0.10377	T	0.69	.	0.5833	0.00715	0.281:0.1969:0.1282:0.3939	.	309	Q8NGY1	O10Z1_HUMAN	F	309	ENSP00000354707:L309F	ENSP00000354707:L309F	L	+	3	2	OR10Z1	156843779	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.617000	0.05584	-1.309000	0.02315	-0.188000	0.12872	TTG		0.478	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		11	241	11	241	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190129810	190129810	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:190129810A>G	ENST00000367462.3	-	7	1403	c.1172T>C	c.(1171-1173)cTg>cCg	p.L391P	BRINP3_ENST00000534846.1_Missense_Mutation_p.L289P	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	391					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.L391P(1)									TTGTCTTGGCAGGCTGATGAG	0.373																																						ENST00000367462.3																			1	Substitution - Missense(1)	p.L391P(1)	prostate(1)								c.(1171-1173)cTg>cCg		bone morphogenetic protein/retinoic acid inducible neural-specific 3							101.0	97.0	98.0					1																	190129810		2203	4300	6503	SO:0001583	missense	339479							g.chr1:190129810A>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1172T>C	1.37:g.190129810A>G	ENSP00000356432:p.Leu391Pro					BRINP3_ENST00000534846.1_Missense_Mutation_p.L289P	p.L391P	NM_199051.1	NP_950252.1					7	1403	-			391					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1172T>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046078	0.75846	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.26957	1.97;1.7	5.6	5.6	0.85130	.	0.168530	0.40554	N	0.001065	T	0.46073	0.1374	M	0.68317	2.08	0.80722	D	1	D;D	0.69078	0.997;0.984	P;P	0.61658	0.892;0.69	T	0.46871	-0.9160	10	0.87932	D	0	.	13.7209	0.62725	1.0:0.0:0.0:0.0	.	289;391	B7Z260;Q76B58	.;FAM5C_HUMAN	P	391;289	ENSP00000356432:L391P;ENSP00000438022:L289P	ENSP00000356432:L391P	L	-	2	0	FAM5C	188396433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.134000	0.65973	0.467000	0.42956	CTG		0.373	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		13	135	13	135	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247614412	247614412	+	Silent	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:247614412G>T	ENST00000318749.6	-	1	896	c.873C>A	c.(871-873)ccC>ccA	p.P291P		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P291P(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTAGGTGAAGGGATTGAGAG	0.488																																						ENST00000318749.6																			2	Substitution - coding silent(2)	p.P291P(2)	prostate(1)|lung(1)	endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(871-873)ccC>ccA		olfactory receptor, family 2, subfamily B, member 11							180.0	193.0	189.0					1																	247614412		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614412G>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.873C>A	1.37:g.247614412G>T							p.P291P	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	896	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	291					B2RP03	Silent	SNP	ENST00000318749.6	37	c.873C>A	CCDS31090.1																																																																																				0.488	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		6	423	6	423	---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248637353	248637353	+	Missense_Mutation	SNP	T	T	A	rs201122477		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:248637353T>A	ENST00000359594.2	+	1	727	c.702T>A	c.(700-702)aaT>aaA	p.N234K		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N234K(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGATGAATTCTGCCGCCG	0.562																																						ENST00000359594.2																			1	Substitution - Missense(1)	p.N234K(1)	prostate(1)	breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(700-702)aaT>aaA		olfactory receptor, family 2, subfamily T, member 3							179.0	151.0	160.0					1																	248637353		2201	4299	6500	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637353T>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.702T>A	1.37:g.248637353T>A	ENSP00000352604:p.Asn234Lys						p.N234K	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	727	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.702T>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	t	11.33	1.606320	0.28623	.	.	ENSG00000196539	ENST00000359594	T	0.00340	8.04	2.37	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	N	0.25380	0.74	0.09310	N	1	B	0.34349	0.45	B	0.43658	0.426	T	0.14811	-1.0459	9	0.09338	T	0.73	.	3.1107	0.06357	0.21:0.4757:0.0:0.3142	.	234	Q8NH03	OR2T3_HUMAN	K	234	ENSP00000352604:N234K	ENSP00000352604:N234K	N	+	3	2	OR2T3	246703976	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-6.205000	0.00076	0.100000	0.17581	0.156000	0.16432	AAT		0.562	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		13	143	13	143	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15378658	15378658	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:15378658C>T	ENST00000281513.5	-	45	5902	c.5877G>A	c.(5875-5877)gaG>gaA	p.E1959E	NBAS_ENST00000441750.1_Silent_p.E1839E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1959					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E1959E(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAGTGATTTCTCCAGATGAT	0.408																																						ENST00000281513.5																			1	Substitution - coding silent(1)	p.E1959E(1)	prostate(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5875-5877)gaG>gaA		neuroblastoma amplified sequence							108.0	109.0	109.0					2																	15378658		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15378658C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5877G>A	2.37:g.15378658C>T						NBAS_ENST00000441750.1_Silent_p.E1839E	p.E1959E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			45	5902	-			1959					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.5877G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	9.238	1.037479	0.19669	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.97	2.06	0.26882	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53358	-0.8450	4	.	.	.	.	10.4579	0.44561	0.0:0.6657:0.0:0.3343	.	.	.	.	K	1007	.	.	R	-	2	0	NBAS	15296109	1.000000	0.71417	0.843000	0.33291	0.975000	0.68041	1.032000	0.30178	0.371000	0.24564	0.655000	0.94253	AGA		0.408	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		9	110	9	110	---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114501368	114501368	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:114501368C>T	ENST00000245680.2	-	6	897	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	162					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.E162K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TACAGAGGTTCACTCTGGAAT	0.323																																						ENST00000245680.2																			1	Substitution - Missense(1)	p.E162K(1)	prostate(1)	endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(484-486)Gaa>Aaa		solute carrier family 35, member F5							155.0	151.0	153.0					2																	114501368		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114501368C>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.484G>A	2.37:g.114501368C>T	ENSP00000245680:p.Glu162Lys					SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K	p.E162K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			6	897	-			162					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.484G>A	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207455	0.95033	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.47177	0.85;0.85	5.35	5.35	0.76521	.	0.122791	0.53938	D	0.000051	T	0.58337	0.2115	L	0.31926	0.97	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.988;0.993	D;P;D	0.75020	0.985;0.794;0.971	T	0.49194	-0.8965	10	0.23891	T	0.37	-19.4832	19.2535	0.93935	0.0:1.0:0.0:0.0	.	162;156;162	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	K	162;156;156	ENSP00000245680:E162K;ENSP00000386754:E156K	ENSP00000245680:E162K	E	-	1	0	SLC35F5	114217838	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.582000	0.74049	2.780000	0.95670	0.655000	0.94253	GAA		0.323	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		69	196	69	196	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179580256	179580256	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:179580256C>T	ENST00000591111.1	-	87	25158	c.24934G>A	c.(24934-24936)Ggc>Agc	p.G8312S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G8629S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7385S			Q8WZ42	TITIN_HUMAN	titin	12490	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G7385S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACTGCCTGCTGCATTG	0.478																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.G7385S(1)	prostate(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25885-25887)Ggc>Agc		titin							82.0	85.0	84.0					2																	179580256		2094	4228	6322	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179580256C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24934G>A	2.37:g.179580256C>T	ENSP00000465570:p.Gly8312Ser					TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8312S|TTN_ENST00000460472.2_Intron	p.G8629S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	26109	-			8312			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25885G>A		.	.	.	.	.	.	.	.	.	.	C	19.14	3.769803	0.69992	.	.	ENSG00000155657	ENST00000342992	T	0.74315	-0.83	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90848	0.7125	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93220	0.6608	9	0.87932	D	0	.	19.3896	0.94574	0.0:1.0:0.0:0.0	.	8312	Q8WZ42	TITIN_HUMAN	S	7385	ENSP00000343764:G7385S	ENSP00000343764:G7385S	G	-	1	0	TTN	179288501	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	7.776000	0.85560	2.637000	0.89404	0.655000	0.94253	GGC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	85	12	85	---	---	---	---
WDFY1	57590	broad.mit.edu	37	2	224749392	224749392	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:224749392C>A	ENST00000233055.4	-	9	1008	c.906G>T	c.(904-906)tgG>tgT	p.W302C		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	302						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.W302C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTTGGTGTCCCACATCTGCT	0.463																																						ENST00000233055.4																			1	Substitution - Missense(1)	p.W302C(1)	prostate(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(904-906)tgG>tgT		WD repeat and FYVE domain containing 1							246.0	258.0	254.0					2																	224749392		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224749392C>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.906G>T	2.37:g.224749392C>A	ENSP00000233055:p.Trp302Cys						p.W302C	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	9	1008	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	302					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.906G>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535623	0.85812	.	.	ENSG00000085449	ENST00000233055	T	0.67865	-0.29	5.32	5.32	0.75619	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.84840	0.5561	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85227	0.1030	10	0.38643	T	0.18	-18.818	19.0334	0.92967	0.0:1.0:0.0:0.0	.	302	Q8IWB7	WDFY1_HUMAN	C	302	ENSP00000233055:W302C	ENSP00000233055:W302C	W	-	3	0	WDFY1	224457636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.392000	0.79840	2.494000	0.84150	0.650000	0.86243	TGG		0.463	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		5	366	5	366	---	---	---	---
RTP3	83597	broad.mit.edu	37	3	46542309	46542309	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:46542309A>G	ENST00000296142.3	+	2	1191	c.619A>G	c.(619-621)Atc>Gtc	p.I207V		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	207					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.I207V(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCAAAACCACATCTGTAGGAA	0.433																																						ENST00000296142.3																			1	Substitution - Missense(1)	p.I207V(1)	prostate(1)	endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(619-621)Atc>Gtc		receptor (chemosensory) transporter protein 3							77.0	75.0	75.0					3																	46542309		2203	4300	6503	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542309A>G	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.619A>G	3.37:g.46542309A>G	ENSP00000296142:p.Ile207Val						p.I207V	NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	1191	+			207					A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.619A>G	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.163646	0.00318	.	.	ENSG00000163825	ENST00000296142	T	0.17691	2.26	1.88	-2.46	0.06461	.	5.780470	0.00166	N	0.000003	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	10	0.02654	T	1	5.0533	2.6976	0.05139	0.5125:0.0:0.2852:0.2023	.	207	Q9BQQ7	RTP3_HUMAN	V	207	ENSP00000296142:I207V	ENSP00000296142:I207V	I	+	1	0	RTP3	46517313	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.131000	0.03238	-0.639000	0.05502	0.379000	0.24179	ATC		0.433	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		34	151	34	151	---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135801246	135801246	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:135801246C>T	ENST00000264977.3	+	8	3388	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000492624.2_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	924					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S303F(1)|p.S924F(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGATCTGTCTCGATACAAT	0.348																																						ENST00000264977.3																			2	Substitution - Missense(2)	p.S303F(1)|p.S924F(1)	prostate(2)	breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2770-2772)tCt>tTt		protein phosphatase 2, regulatory subunit B'', alpha							119.0	117.0	118.0					3																	135801246		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135801246C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2771C>T	3.37:g.135801246C>T	ENSP00000264977:p.Ser924Phe					PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F|PPP2R3A_ENST00000492624.2_3'UTR	p.S924F	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			8	3388	+			924					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2771C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990868	0.54041	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.54866	0.55;0.55;0.55	5.63	5.63	0.86233	EF-hand-like domain (1);	0.292074	0.30639	N	0.009198	T	0.64327	0.2588	M	0.68317	2.08	0.80722	D	1	P;D	0.58620	0.801;0.983	P;P	0.55055	0.476;0.767	T	0.65455	-0.6164	10	0.51188	T	0.08	.	14.2951	0.66308	0.0:0.8515:0.1484:0.0	.	303;924	Q06190-2;Q06190	.;P2R3A_HUMAN	F	924;188;303	ENSP00000264977:S924F;ENSP00000419344:S188F;ENSP00000334748:S303F	ENSP00000264977:S924F	S	+	2	0	PPP2R3A	137283936	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	2.492000	0.45311	2.652000	0.90054	0.563000	0.77884	TCT		0.348	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		12	166	12	166	---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148760005	148760005	+	Silent	SNP	A	A	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:148760005A>T	ENST00000310053.5	-	19	2338	c.2145T>A	c.(2143-2145)atT>atA	p.I715I	HLTF_ENST00000465259.1_Silent_p.I714I|HLTF_ENST00000392912.2_Silent_p.I715I|HLTF_ENST00000494055.1_Silent_p.I715I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	715					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I715I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATGGCAACAAATTTGCCGCA	0.373																																						ENST00000310053.5																			1	Substitution - coding silent(1)	p.I715I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2143-2145)atT>atA		helicase-like transcription factor							91.0	89.0	90.0					3																	148760005		2203	4300	6503	SO:0001819	synonymous_variant	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148760005A>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2145T>A	3.37:g.148760005A>T						HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I|HLTF_ENST00000392912.2_Silent_p.I715I	p.I715I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		19	2338	-			715					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Silent	SNP	ENST00000310053.5	37	c.2145T>A	CCDS33875.1																																																																																				0.373	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			42	113	42	113	---	---	---	---
AADAC	13	broad.mit.edu	37	3	151545615	151545615	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:151545615C>T	ENST00000232892.7	+	5	981	c.855C>T	c.(853-855)tcC>tcT	p.S285S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	285					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S285S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATTGGAGTTCCCTGCTCCCTG	0.383																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.7																			1	Substitution - coding silent(1)	p.S285S(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(853-855)tcC>tcT		arylacetamide deacetylase							55.0	58.0	57.0					3																	151545615		2203	4299	6502	SO:0001819	synonymous_variant	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545615C>T	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.855C>T	3.37:g.151545615C>T						RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	p.S285S	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	981	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)						A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	c.855C>T	CCDS33877.1																																																																																				0.383	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		9	200	9	200	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126371608	126371608	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371608T>A	ENST00000394329.3	+	9	9450	c.9437T>A	c.(9436-9438)tTa>tAa	p.L3146*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3146	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3146*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGGTATATTAACACTAGCC	0.398																																						ENST00000394329.3																			2	Substitution - Nonsense(2)	p.L3146*(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9436-9438)tTa>tAa		FAT atypical cadherin 4							69.0	72.0	71.0					4																	126371608		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371608T>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9437T>A	4.37:g.126371608T>A	ENSP00000377862:p.Leu3146*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444*	p.L3146*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9450	+			3146			Cadherin 30.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.9437T>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	48	14.797669	0.99810	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.63	5.63	0.86233	.	0.339073	0.15635	U	0.252211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	.	.	.	X	3146;1444	.	ENSP00000335169:L1444X	L	+	2	0	FAT4	126591058	0.994000	0.37717	0.005000	0.12908	0.098000	0.18820	7.880000	0.87243	2.145000	0.66743	0.533000	0.62120	TTA		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	145	4	145	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126371768	126371768	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371768T>C	ENST00000394329.3	+	9	9610	c.9597T>C	c.(9595-9597)taT>taC	p.Y3199Y	FAT4_ENST00000335110.5_Silent_p.Y1497Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3199	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y3199Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGATGACTATTTCCCTACTG	0.418																																						ENST00000394329.3																			2	Substitution - coding silent(2)	p.Y3199Y(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9595-9597)taT>taC		FAT atypical cadherin 4							98.0	88.0	91.0					4																	126371768		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371768T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9597T>C	4.37:g.126371768T>C						FAT4_ENST00000335110.5_Silent_p.Y1497Y	p.Y3199Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9610	+			3199			Cadherin 31.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.9597T>C	CCDS3732.3																																																																																				0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	141	9	141	---	---	---	---
FNIP2	57600	broad.mit.edu	37	4	159790453	159790453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:159790453C>T	ENST00000264433.6	+	13	2740	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	889	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R215*(1)|p.R889*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGACATTCCCCGAAATGAAAG	0.592																																						ENST00000264433.6																			2	Substitution - Nonsense(2)	p.R215*(1)|p.R889*(1)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2665-2667)Cga>Tga		folliculin interacting protein 2							26.0	29.0	28.0					4																	159790453		2074	4210	6284	SO:0001587	stop_gained	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790453C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2665C>T	4.37:g.159790453C>T	ENSP00000264433:p.Arg889*					FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912*	p.R889*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2740	+	all_hematologic(180;0.24)		889			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Nonsense_Mutation	SNP	ENST00000264433.6	37	c.2665C>T	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321145	0.95682	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	.	.	.	5.57	1.61	0.23674	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.649	0.62299	0.5771:0.4229:0.0:0.0	.	.	.	.	X	889;912	.	.	R	+	1	2	FNIP2	160009903	0.998000	0.40836	0.980000	0.43619	0.310000	0.27922	2.869000	0.48444	0.092000	0.17331	-0.274000	0.10170	CGA		0.592	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		3	27	3	27	---	---	---	---
FCHO2	115548	broad.mit.edu	37	5	72370579	72370579	+	Silent	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:72370579G>T	ENST00000430046.2	+	20	1706	c.1590G>T	c.(1588-1590)cgG>cgT	p.R530R	FCHO2_ENST00000341845.6_Silent_p.R530R|FCHO2_ENST00000512348.1_Silent_p.R497R	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	530	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.R530R(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTGTGTCACGGGGTCCCAGCC	0.408																																						ENST00000430046.2																			2	Substitution - coding silent(2)	p.R530R(2)	prostate(2)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(1588-1590)cgG>cgT		FCH domain only 2							84.0	81.0	82.0					5																	72370579		1876	4106	5982	SO:0001819	synonymous_variant	115548							g.chr5:72370579G>T	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1590G>T	5.37:g.72370579G>T						FCHO2_ENST00000341845.6_Silent_p.R530R|FCHO2_ENST00000512348.1_Silent_p.R497R	p.R530R	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	20	1706	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	530					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	ENST00000430046.2	37	c.1590G>T	CCDS47230.1																																																																																				0.408	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		3	37	3	37	---	---	---	---
OR2V2	285659	broad.mit.edu	37	5	180582179	180582179	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:180582179G>A	ENST00000328275.1	+	1	237	c.237G>A	c.(235-237)gtG>gtA	p.V79V		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V79V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTACCAATGTGCCAAAGATGG	0.517																																						ENST00000328275.1																			1	Substitution - coding silent(1)	p.V79V(1)	prostate(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(235-237)gtG>gtA		olfactory receptor, family 2, subfamily V, member 2							166.0	158.0	161.0					5																	180582179		2203	4300	6503	SO:0001819	synonymous_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582179G>A	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.237G>A	5.37:g.180582179G>A							p.V79V	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	237	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	79					Q6IFL6|Q8NGV1	Silent	SNP	ENST00000328275.1	37	c.237G>A	CCDS4461.1																																																																																				0.517	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			14	245	14	245	---	---	---	---
CDC40	51362	broad.mit.edu	37	6	110547378	110547378	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:110547378C>T	ENST00000368932.1	+	14	1450	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	CDC40_ENST00000445340.2_Intron|CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L			O60508	PRP17_HUMAN	cell division cycle 40	450					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.P450L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGGGATATCCCTGTGGATTTC	0.323																																						ENST00000368932.1																			1	Substitution - Missense(1)	p.P450L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18						c.(1348-1350)cCt>cTt		cell division cycle 40							78.0	76.0	77.0					6																	110547378		2203	4300	6503	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110547378C>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1349C>T	6.37:g.110547378C>T	ENSP00000357928:p.Pro450Leu					CDC40_ENST00000445340.2_Intron|CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L	p.P450L			O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	14	1450	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	450					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.1349C>T	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082886	0.94050	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.92833	3.35	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	D	0.92192	0.5760	10	0.66056	D	0.02	-8.6595	20.4777	0.99188	0.0:1.0:0.0:0.0	.	450	O60508	PRP17_HUMAN	L	450	ENSP00000357928:P450L;ENSP00000357929:P450L;ENSP00000357926:P450L;ENSP00000304370:P450L	ENSP00000304370:P450L	P	+	2	0	CDC40	110654071	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	CCT		0.323	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		25	88	25	88	---	---	---	---
TPST1	8460	broad.mit.edu	37	7	65751577	65751577	+	Missense_Mutation	SNP	G	G	A	rs142506783		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:65751577G>A	ENST00000304842.5	+	3	1350	c.925G>A	c.(925-927)Gat>Aat	p.D309N	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	309					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.D309N(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GATACCGCCAGATGTTTTACA	0.428																																						ENST00000304842.5																			1	Substitution - Missense(1)	p.D309N(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(925-927)Gat>Aat		tyrosylprotein sulfotransferase 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	145.0	127.0	133.0		925	4.7	1.0	7	dbSNP_134	133	0,8600		0,0,4300	no	missense	TPST1	NM_003596.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	309/371	65751577	1,13005	2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65751577G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.925G>A	7.37:g.65751577G>A	ENSP00000302413:p.Asp309Asn					TPST1_ENST00000480281.1_3'UTR	p.D309N	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			3	1350	+			309					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.925G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070780	0.76301	2.27E-4	0.0	ENSG00000169902	ENST00000304842;ENST00000544114	T	0.44881	0.91	5.56	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.82630	2.6	0.80722	D	1	P;P	0.52061	0.95;0.916	P;P	0.53450	0.726;0.536	T	0.66376	-0.5939	10	0.66056	D	0.02	-19.0377	13.3784	0.60752	0.0761:0.0:0.9238:0.0	.	309;309	F5H7U7;O60507	.;TPST1_HUMAN	N	309	ENSP00000302413:D309N	ENSP00000302413:D309N	D	+	1	0	TPST1	65389012	1.000000	0.71417	0.952000	0.39060	0.926000	0.56050	6.931000	0.75863	1.348000	0.45733	0.467000	0.42956	GAT		0.428	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		9	106	9	106	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77567152	77567152	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:77567152C>T	ENST00000248550.7	+	12	1540	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	PHTF2_ENST00000307305.8_Silent_p.N450N|PHTF2_ENST00000422959.2_Silent_p.N454N|PHTF2_ENST00000416283.2_Silent_p.N454N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000424760.1_Silent_p.N450N			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGATAATGAACAGAGTGAGTT	0.308																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1360-1362)aaC>aaT		putative homeodomain transcription factor 2							58.0	55.0	56.0					7																	77567152		1804	4066	5870	SO:0001819	synonymous_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77567152C>T	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1464C>T	7.37:g.77567152C>T						PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000248550.7_Silent_p.N488N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Silent_p.N450N|PHTF2_ENST00000422959.2_Silent_p.N454N	p.N454N	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			11	1488	+			488					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37	c.1362C>T																																																																																					0.308	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		6	55	6	55	---	---	---	---
ERMP1	79956	broad.mit.edu	37	9	5798848	5798848	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:5798848A>C	ENST00000339450.5	-	12	2317	c.2228T>G	c.(2227-2229)cTt>cGt	p.L743R	ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	743						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.L743R(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AAAACCACAAAGAGGTGCATT	0.403																																						ENST00000339450.5																			1	Substitution - Missense(1)	p.L743R(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(2227-2229)cTt>cGt		endoplasmic reticulum metallopeptidase 1							129.0	122.0	124.0					9																	5798848		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5798848A>C	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2228T>G	9.37:g.5798848A>C	ENSP00000340427:p.Leu743Arg					ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R	p.L743R	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	12	2317	-		Acute lymphoblastic leukemia(23;0.158)	743					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.2228T>G	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733830	0.69189	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.24151	1.87;1.87	5.59	5.59	0.84812	.	0.213634	0.49916	D	0.000126	T	0.31888	0.0811	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	P	0.51615	0.675	T	0.01951	-1.1241	10	0.39692	T	0.17	-13.1757	15.7672	0.78135	1.0:0.0:0.0:0.0	.	743	Q7Z2K6	ERMP1_HUMAN	R	743;321	ENSP00000340427:L743R;ENSP00000439368:L321R	ENSP00000340427:L743R	L	-	2	0	ERMP1	5788848	1.000000	0.71417	0.650000	0.29550	0.951000	0.60555	5.555000	0.67301	2.123000	0.65237	0.383000	0.25322	CTT		0.403	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		5	72	5	72	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134942117	134942117	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:134942117C>T	ENST00000392607.3	+	7	1221	c.785C>T	c.(784-786)aCg>aTg	p.T262M	GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000607359.1_Missense_Mutation_p.T981M	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	262					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T262M(1)|p.T981M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCGCCTTCACGCTGTTCCTG	0.692																																						ENST00000607359.1																			2	Substitution - Missense(2)	p.T262M(1)|p.T981M(1)	prostate(2)	endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2941-2943)aCg>aTg		G protein-coupled receptor 123							16.0	15.0	15.0					10																	134942117		2191	4288	6479	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942117C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.785C>T	10.37:g.134942117C>T	ENSP00000376384:p.Thr262Met					GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000392607.3_Missense_Mutation_p.T262M	p.T981M			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	2942	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	262					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.2942C>T	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.296494	0.81025	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.36340	1.26	4.85	4.85	0.62838	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000009	T	0.58736	0.2143	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.71674	0.995;0.998	D;D	0.66497	0.923;0.944	T	0.62397	-0.6863	10	0.56958	D	0.05	-27.2516	15.8223	0.78667	0.0:1.0:0.0:0.0	.	262;981	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	M	981;262;166	ENSP00000376384:T262M	ENSP00000357566:T981M	T	+	2	0	GPR123	134792107	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.591000	0.67536	2.419000	0.82065	0.491000	0.48974	ACG		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			5	13	5	13	---	---	---	---
OR51F1	256892	broad.mit.edu	37	11	4791052	4791052	+	Silent	SNP	A	A	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:4791052A>T	ENST00000380383.1	-	1	116	c.117T>A	c.(115-117)ccT>ccA	p.P39P	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P32P(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACAACAGAAAGGAATGGAGA	0.453																																						ENST00000380383.1																			1	Substitution - coding silent(1)	p.P32P(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(115-117)ccT>ccA		olfactory receptor, family 51, subfamily F, member 1							55.0	55.0	55.0					11																	4791052		2201	4298	6499	SO:0001819	synonymous_variant	256892					integral to membrane	olfactory receptor activity	g.chr11:4791052A>T	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.117T>A	11.37:g.4791052A>T						OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.P39P			A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	116	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	32						Silent	SNP	ENST00000380383.1	37	c.117T>A																																																																																					0.453	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		11	41	11	41	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116729309	116729309	+	Missense_Mutation	SNP	T	T	C	rs141671439		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116729309T>C	ENST00000292055.4	-	20	2589	c.2554A>G	c.(2554-2556)Aca>Gca	p.T852A	SIK3_ENST00000488337.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.T910A	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	852	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.T958A(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCACTCCTGTTGAAGGGCTG	0.582													T|||	1	0.000199681	0.0	0.0	5008	,	,		18667	0.0		0.001	False		,,,				2504	0.0					ENST00000375300.1																			1	Substitution - Missense(1)	p.T958A(1)	prostate(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2728-2730)Aca>Gca		SIK family kinase 3							80.0	87.0	85.0					11																	116729309		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729309T>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2554A>G	11.37:g.116729309T>C	ENSP00000292055:p.Thr852Ala					SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.T852A|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000488337.1_Intron	p.T910A			Q9Y2K2	SIK3_HUMAN			20	2733	-			852			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2728A>G	CCDS8379.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	T|T	12.41|12.41	1.928353|1.928353	0.34002|0.34002	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177|ENST00000375300;ENST00000292055	.|T;T	.|0.70986	.|-0.5;-0.53	5.58|5.58	-5.37|-5.37	0.02681|0.02681	.|.	.|0.684009	.|0.12074	.|U	.|0.501979	T|T	0.40909|0.40909	0.1136|0.1136	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999992|0.999992	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.01549|0.01549	-1.1327|-1.1327	5|10	.|0.33141	.|T	.|0.24	.|.	5.6675|5.6675	0.17702|0.17702	0.1045:0.4964:0.1062:0.2929|0.1045:0.4964:0.1062:0.2929	.|.	.|852;852	.|Q9Y2K2-3;Q9Y2K2	.|.;SIK3_HUMAN	S|A	951|910;852	.|ENSP00000364449:T910A;ENSP00000292055:T852A	.|ENSP00000292055:T852A	N|T	-|-	2|1	0|0	SIK3|SIK3	116234519|116234519	0.010000|0.010000	0.17322|0.17322	0.962000|0.962000	0.40283|0.40283	0.996000|0.996000	0.88848|0.88848	-0.563000|-0.563000	0.05943|0.05943	-0.812000|-0.812000	0.04363|0.04363	-0.250000|-0.250000	0.11733|0.11733	AAC|ACA		0.582	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		45	133	45	133	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116767026	116767026	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116767026T>C	ENST00000292055.4	-	6	669	c.634A>G	c.(634-636)Aat>Gat	p.N212D	SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000446921.2_Missense_Mutation_p.N270D|SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.N270D	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.N270D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCCCGCAGATTCTGCAGTGTG	0.507																																						ENST00000375300.1																			1	Substitution - Missense(1)	p.N270D(1)	prostate(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(808-810)Aat>Gat		SIK family kinase 3							96.0	92.0	93.0					11																	116767026		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116767026T>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.634A>G	11.37:g.116767026T>C	ENSP00000292055:p.Asn212Asp					SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000292055.4_Missense_Mutation_p.N212D|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000446921.2_Missense_Mutation_p.N270D	p.N270D			Q9Y2K2	SIK3_HUMAN			6	813	-			212					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.808A>G	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.035237|4.035237	0.75617|0.75617	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.65178	.|-0.14;-0.14;-0.14;-0.14	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.44097	.|U	.|0.000490	T|T	0.42404|0.42404	0.1201|0.1201	N|N	0.01250|0.01250	-0.93|-0.93	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.36837	.|0.571;0.0;0.571	.|B;B;B	.|0.43990	.|0.27;0.007;0.438	T|T	0.57700|0.57700	-0.7766|-0.7766	5|10	.|0.46703	.|T	.|0.11	.|.	14.5398|14.5398	0.67984|0.67984	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|212;111;212	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	G|D	263;234;172|270;212;212;111	.|ENSP00000364449:N270D;ENSP00000292055:N212D;ENSP00000438108:N212D;ENSP00000415873:N111D	.|ENSP00000292055:N212D	E|N	-|-	2|1	0|0	SIK3|SIK3	116272236|116272236	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	6.167000|6.167000	0.71902|0.71902	2.085000|2.085000	0.62840|0.62840	0.460000|0.460000	0.39030|0.39030	GAA|AAT		0.507	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		6	116	6	116	---	---	---	---
PTPN6	5777	broad.mit.edu	37	12	7061281	7061281	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:7061281C>T	ENST00000318974.9	+	3	511	c.267C>T	c.(265-267)cgC>cgT	p.R89R	PTPN6_ENST00000447931.2_Silent_p.R50R|PTPN6_ENST00000399448.1_Silent_p.R91R|PTPN6_ENST00000456013.1_Silent_p.R89R	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	89	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R89R(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TGCAGGACCGCGACGGCACCA	0.587																																						ENST00000456013.1																			2	Substitution - coding silent(2)	p.R89R(2)	prostate(2)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(265-267)cgC>cgT		protein tyrosine phosphatase, non-receptor type 6							105.0	124.0	117.0					12																	7061281		2199	4296	6495	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7061281C>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.267C>T	12.37:g.7061281C>T						PTPN6_ENST00000399448.1_Silent_p.R91R|PTPN6_ENST00000318974.9_Silent_p.R89R|PTPN6_ENST00000447931.2_Silent_p.R50R	p.R89R	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			3	509	+			89			SH2 1.		A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.267C>T	CCDS44820.1																																																																																				0.587	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		12	132	12	132	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20890188	20890188	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:20890188C>A	ENST00000266509.2	+	11	1898	c.1530C>A	c.(1528-1530)aaC>aaA	p.N510K	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	510	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.N510K(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AAACCTCCAACAGGAGTGGAA	0.413																																						ENST00000381552.1																			1	Substitution - Missense(1)	p.N510K(1)	prostate(1)	NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1528-1530)aaC>aaA		solute carrier organic anion transporter family, member 1C1							94.0	88.0	90.0					12																	20890188		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20890188C>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1530C>A	12.37:g.20890188C>A	ENSP00000266509:p.Asn510Lys					SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N510K	p.N510K			Q9NYB5	SO1C1_HUMAN			11	1898	+	Esophageal squamous(101;0.149)		510			Kazal-like.		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1530C>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	1.648	-0.514714	0.04200	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.03831	3.79;3.79;3.79;3.79;3.79	5.02	4.13	0.48395	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.592581	0.20053	N	0.100252	T	0.02193	0.0068	N	0.05078	-0.115	0.33263	D	0.559955	B;B;B;B	0.10296	0.003;0.001;0.002;0.002	B;B;B;B	0.16722	0.009;0.01;0.016;0.01	T	0.30736	-0.9968	10	0.06494	T	0.89	.	8.5671	0.33547	0.0:0.8252:0.0:0.1748	.	392;461;510;510	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	K	510;461;510;510;392	ENSP00000444149:N510K;ENSP00000438665:N461K;ENSP00000266509:N510K;ENSP00000370964:N510K;ENSP00000444527:N392K	ENSP00000266509:N510K	N	+	3	2	SLCO1C1	20781455	0.001000	0.12720	0.997000	0.53966	0.994000	0.84299	-0.196000	0.09532	2.770000	0.95276	0.650000	0.86243	AAC		0.413	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		14	100	14	100	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105413230	105413230	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr14:105413230T>G	ENST00000333244.5	-	7	8677	c.8558A>C	c.(8557-8559)cAa>cCa	p.Q2853P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2853						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.Q2853P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGATCCCCTTGCATGGAGGG	0.622																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.Q2853P(1)	prostate(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8557-8559)cAa>cCa		AHNAK nucleoprotein 2							134.0	153.0	147.0					14																	105413230		1972	4153	6125	SO:0001583	missense	113146					nucleus		g.chr14:105413230T>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8558A>C	14.37:g.105413230T>G	ENSP00000353114:p.Gln2853Pro					AHNAK2_ENST00000557457.1_Intron	p.Q2853P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8677	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2853					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8558A>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	5.892	0.348715	0.11126	.	.	ENSG00000185567	ENST00000333244	T	0.00745	5.75	3.07	-1.02	0.10135	.	.	.	.	.	T	0.00784	0.0026	L	0.50919	1.6	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47686	-0.9098	9	0.36615	T	0.2	.	0.9639	0.01401	0.1567:0.2955:0.161:0.3868	.	2853	Q8IVF2	AHNK2_HUMAN	P	2853	ENSP00000353114:Q2853P	ENSP00000353114:Q2853P	Q	-	2	0	AHNAK2	104484275	.	.	0.000000	0.03702	0.010000	0.07245	.	.	-0.432000	0.07297	-0.983000	0.02560	CAA		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		19	230	19	230	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42681231	42681231	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:42681231T>G	ENST00000397163.3	+	5	957	c.738T>G	c.(736-738)agT>agG	p.S246R	CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	246	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.S246R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGCTCCTAGTGACATGTACA	0.542																																						ENST00000397163.3																			1	Substitution - Missense(1)	p.S246R(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(736-738)agT>agG		calpain 3, (p94)							123.0	116.0	119.0					15																	42681231		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681231T>G	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.738T>G	15.37:g.42681231T>G	ENSP00000380349:p.Ser246Arg					CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R	p.S246R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	957	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	246			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.738T>G	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	T	3.063	-0.192787	0.06259	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.41	-2.94	0.05581	Peptidase C2, calpain, catalytic domain (3);	0.121669	0.53938	N	0.000054	D	0.87736	0.6252	N	0.17379	0.485	0.32054	N	0.596627	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.001;0.0;0.001;0.001;0.002	T	0.77590	-0.2531	10	0.11485	T	0.65	.	0.8154	0.01101	0.3472:0.1163:0.2836:0.2529	.	159;159;246;246;246;159	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	R	159;246;246;246;246	ENSP00000348667:S159R;ENSP00000380349:S246R;ENSP00000350181:S246R;ENSP00000183936:S246R;ENSP00000326281:S246R	ENSP00000326281:S246R	S	+	3	2	CAPN3	40468523	1.000000	0.71417	0.961000	0.40146	0.156000	0.22039	1.077000	0.30741	-0.716000	0.04962	-1.288000	0.01363	AGT		0.542	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			17	194	17	194	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48580269	48580269	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:48580269C>T	ENST00000558405.1	+	21	2673	c.2659C>T	c.(2659-2661)Cat>Tat	p.H887Y	SLC12A1_ENST00000396577.3_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	887					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.H887Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCAGTCGATGCATGTGGGAGA	0.403																																						ENST00000396577.3																			1	Substitution - Missense(1)	p.H887Y(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(2659-2661)Cat>Tat		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						63.0	58.0	60.0					15																	48580269		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48580269C>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2659C>T	15.37:g.48580269C>T	ENSP00000453409:p.His887Tyr					SLC12A1_ENST00000558405.1_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y	p.H887Y	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	22	2874	+		all_lung(180;0.00219)	887					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2659C>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514205	0.85389	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.82344	-1.6;-1.6	6.17	6.17	0.99709	.	0.095726	0.64402	D	0.000001	T	0.69824	0.3154	N	0.08118	0	0.52501	D	0.999957	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.64744	-0.6335	10	0.11182	T	0.66	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	887;887	E9PDW4;Q13621	.;S12A1_HUMAN	Y	887	ENSP00000370381:H887Y;ENSP00000379822:H887Y	ENSP00000370381:H887Y	H	+	1	0	SLC12A1	46367561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.976000	0.76135	2.941000	0.99782	0.655000	0.94253	CAT		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			7	25	7	25	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20335248	20335248	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:20335248C>A	ENST00000381362.4	-	3	501	c.425G>T	c.(424-426)aGt>aTt	p.S142I	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.S142I|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	142					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.S142I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCAGTTGCCACTCCAATGGGC	0.592																																						ENST00000302555.5																			2	Substitution - Missense(2)	p.S142I(2)	prostate(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(424-426)aGt>aTt		glycoprotein 2 (zymogen granule membrane)							69.0	57.0	61.0					16																	20335248		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335248C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.425G>T	16.37:g.20335248C>A	ENSP00000370767:p.Ser142Ile					GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S142I|GP2_ENST00000381360.5_Intron	p.S142I			P55259	GP2_HUMAN			3	574	-			142					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.425G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776046	0.31411	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.95554	-3.74;-3.74	4.84	0.569	0.17340	.	.	.	.	.	D	0.95092	0.8410	M	0.87682	2.9	0.09310	N	1	P;P	0.48016	0.85;0.904	B;P	0.46362	0.424;0.514	D	0.88718	0.3227	9	0.59425	D	0.04	-5.2599	4.3262	0.11041	0.1524:0.3096:0.4471:0.0909	.	142;142	P55259-3;P55259	.;GP2_HUMAN	I	142	ENSP00000304044:S142I;ENSP00000370767:S142I	ENSP00000304044:S142I	S	-	2	0	GP2	20242749	0.012000	0.17670	0.025000	0.17156	0.263000	0.26337	0.118000	0.15605	-0.029000	0.13827	0.650000	0.86243	AGT		0.592	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		3	83	3	83	---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	53007460	53007460	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:53007460G>T	ENST00000575882.1	+	8	1100	c.747G>T	c.(745-747)atG>atT	p.M249I	TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	249	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.M249I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GTCGGGAGATGCAGGAGAGGA	0.418																																						ENST00000575882.1																			1	Substitution - Missense(1)	p.M249I(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(745-747)atG>atT		target of myb1 (chicken)-like 1							201.0	178.0	186.0					17																	53007460		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53007460G>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.747G>T	17.37:g.53007460G>T	ENSP00000460823:p.Met249Ile					TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I	p.M249I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			8	1100	+			249			GAT.		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.747G>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783638	0.70222	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.07	4.1	0.47936	GAT (2);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.83118	2.625	0.49798	D	0.999825	D;B;B;B;B	0.89917	1.0;0.124;0.041;0.124;0.295	D;B;B;B;B	0.97110	1.0;0.098;0.062;0.219;0.087	T	0.71932	-0.4443	10	0.54805	T	0.06	-12.5811	11.5199	0.50545	0.0865:0.0:0.9135:0.0	.	137;242;172;249;249	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	I	249;137;172;172	ENSP00000408958:M249I;ENSP00000441242:M137I;ENSP00000343901:M172I;ENSP00000443099:M172I	ENSP00000343901:M172I	M	+	3	0	TOM1L1	50362459	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.526000	0.60566	1.361000	0.45981	-0.244000	0.11960	ATG		0.418	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		29	111	29	111	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179121	65179121	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:65179121A>G	ENST00000310045.7	-	2	4228	c.2755T>C	c.(2755-2757)Tca>Cca	p.S919P	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	909					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S919P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CGGATATCTGACACCTTCCAT	0.423																																						ENST00000310045.7																			1	Substitution - Missense(1)	p.S919P(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2755-2757)Tca>Cca		dermatan sulfate epimerase-like							78.0	78.0	78.0					18																	65179121		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179121A>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2755T>C	18.37:g.65179121A>G	ENSP00000310565:p.Ser919Pro					CTD-2541J13.2_ENST00000583493.1_RNA	p.S919P	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4228	-		Esophageal squamous(42;0.129)	909					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2755T>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323675	0.41096	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19532	2.14	5.13	1.26	0.21427	Sulfotransferase domain (1);	0.901578	0.09527	N	0.790135	T	0.21801	0.0525	L	0.54323	1.7	0.09310	N	1	P	0.47484	0.896	P	0.45377	0.478	T	0.17167	-1.0378	10	0.56958	D	0.05	-2.7642	3.4752	0.07582	0.6492:0.1414:0.0741:0.1354	.	909	Q8IZU8	DSEL_HUMAN	P	919;909	ENSP00000310565:S919P	ENSP00000310565:S919P	S	-	1	0	DSEL	63330101	0.176000	0.23096	0.004000	0.12327	0.972000	0.66771	0.849000	0.27723	0.233000	0.21120	0.460000	0.39030	TCA		0.423	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		5	138	5	138	---	---	---	---
PRR22	163154	broad.mit.edu	37	19	5784048	5784048	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:5784048T>C	ENST00000419421.2	-	3	314	c.210A>G	c.(208-210)ccA>ccG	p.P70P	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	70								p.P68P(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						AGCACCCGCATGGGGCCATCT	0.677																																						ENST00000419421.2																			1	Substitution - coding silent(1)	p.P68P(1)	prostate(1)	endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(208-210)ccA>ccG		proline rich 22							23.0	31.0	28.0					19																	5784048		2175	4278	6453	SO:0001819	synonymous_variant	163154							g.chr19:5784048T>C	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.210A>G	19.37:g.5784048T>C						CTB-54O9.9_ENST00000586012.1_3'UTR	p.P70P	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	314	-			68					E9PB31	Silent	SNP	ENST00000419421.2	37	c.210A>G	CCDS45933.1																																																																																				0.677	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		3	45	3	45	---	---	---	---
ICAM1	3383	broad.mit.edu	37	19	10394818	10394818	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10394818G>A	ENST00000264832.3	+	4	1072	c.747G>A	c.(745-747)caG>caA	p.Q249Q	ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Silent_p.Q27Q|ICAM4_ENST00000340992.4_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	249	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.Q249Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CGGAGGCCCAGGTCCACCTGG	0.647																																						ENST00000264832.3																			1	Substitution - coding silent(1)	p.Q249Q(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(745-747)caG>caA		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						69.0	57.0	61.0					19																	10394818		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394818G>A		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.747G>A	19.37:g.10394818G>A						ICAM1_ENST00000423829.2_Silent_p.Q27Q|CTD-2369P2.5_ENST00000592893.1_RNA	p.Q249Q	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	1072	+			249			Ig-like C2-type 3.		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.747G>A	CCDS12231.1																																																																																				0.647	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			4	55	4	55	---	---	---	---
S1PR5	53637	broad.mit.edu	37	19	10625418	10625418	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10625418G>A	ENST00000439028.3	-	2	395	c.270C>T	c.(268-270)gcC>gcT	p.A90A	S1PR5_ENST00000333430.4_Silent_p.A90A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	90					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.A90A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GGATGTTGGCGGCGTAGGCGG	0.672																																						ENST00000439028.3																			1	Substitution - coding silent(1)	p.A90A(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(268-270)gcC>gcT		sphingosine-1-phosphate receptor 5							21.0	21.0	21.0					19																	10625418		2196	4298	6494	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625418G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.270C>T	19.37:g.10625418G>A						S1PR5_ENST00000333430.4_Silent_p.A90A	p.A90A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	395	-			90					Q6NW11	Silent	SNP	ENST00000439028.3	37	c.270C>T	CCDS12240.1																																																																																				0.672	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		5	4	5	4	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31770341	31770341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:31770341C>T	ENST00000240587.4	-	2	685	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	120					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A120T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGTACACGGCCTTCATCTGC	0.557																																						ENST00000240587.4																			1	Substitution - Missense(1)	p.A120T(1)	prostate(1)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(358-360)Gcc>Acc		teashirt zinc finger homeobox 3							130.0	135.0	133.0					19																	31770341		2180	4280	6460	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770341C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.358G>A	19.37:g.31770341C>T	ENSP00000240587:p.Ala120Thr						p.A120T	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	685	-	Esophageal squamous(110;0.226)		120					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.358G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447397	0.84101	.	.	ENSG00000121297	ENST00000240587	T	0.22945	1.93	5.77	5.77	0.91146	.	0.000000	0.64402	U	0.000001	T	0.51041	0.1651	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.40136	-0.9579	10	0.49607	T	0.09	-22.9461	19.9924	0.97371	0.0:1.0:0.0:0.0	.	120	Q63HK5	TSH3_HUMAN	T	120	ENSP00000240587:A120T	ENSP00000240587:A120T	A	-	1	0	TSHZ3	36462181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.701000	0.92244	0.650000	0.86243	GCC		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	75	4	75	---	---	---	---
FERMT1	55612	broad.mit.edu	37	20	6077614	6077614	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:6077614C>T	ENST00000217289.4	-	8	1812	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K|FERMT1_ENST00000478194.1_5'Flank	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	342	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)		p.E342K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTTCTATTTCATCAACCTCG	0.418																																						ENST00000217289.4																			2	Substitution - Missense(2)	p.E342K(2)	prostate(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1024-1026)Gaa>Aaa		fermitin family member 1							158.0	175.0	169.0					20																	6077614		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6077614C>T	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1024G>A	20.37:g.6077614C>T	ENSP00000217289:p.Glu342Lys					FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K	p.E342K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			8	1812	-			342			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1024G>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244258	0.59103	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.77877	-1.13;-1.13	5.55	5.55	0.83447	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.83312	0.5227	M	0.79805	2.47	0.80722	D	1	B;B;B	0.26512	0.151;0.074;0.151	B;B;B	0.36766	0.232;0.139;0.232	T	0.82010	-0.0669	10	0.56958	D	0.05	-39.9161	19.1164	0.93343	0.0:1.0:0.0:0.0	.	342;342;342	B2RAX1;Q9BQL6-4;Q9BQL6	.;.;FERM1_HUMAN	K	342;85;342	ENSP00000217289:E342K;ENSP00000441063:E85K	ENSP00000217289:E342K	E	-	1	0	FERMT1	6025614	1.000000	0.71417	0.198000	0.23420	0.053000	0.15095	7.221000	0.78016	2.610000	0.88304	0.555000	0.69702	GAA		0.418	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		8	393	8	393	---	---	---	---
RRBP1	6238	broad.mit.edu	37	20	17622555	17622555	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:17622555T>A	ENST00000377813.1	-	5	2374	c.2071A>T	c.(2071-2073)Aag>Tag	p.K691*	RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*|RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	691					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.K258*(1)|p.K691*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGTCACCCTTCTGAGTGGCC	0.557																																						ENST00000377813.1																			2	Substitution - Nonsense(2)	p.K258*(1)|p.K691*(1)	prostate(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2071-2073)Aag>Tag		ribosome binding protein 1							120.0	115.0	117.0					20																	17622555		2203	4300	6503	SO:0001587	stop_gained	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17622555T>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2071A>T	20.37:g.17622555T>A	ENSP00000367044:p.Lys691*					RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691*	p.K691*			Q9P2E9	RRBP1_HUMAN			5	2374	-			691					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	ENST00000377813.1	37	c.2071A>T		.	.	.	.	.	.	.	.	.	.	T	41	8.846750	0.98976	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	.	.	.	6.08	6.08	0.98989	.	0.000000	0.39407	N	0.001373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-43.542	15.825	0.78698	0.0:0.0:0.0:1.0	.	.	.	.	X	258;691;258;691;32	.	ENSP00000246043:K691X	K	-	1	0	RRBP1	17570555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	2.333000	0.79357	0.533000	0.62120	AAG		0.557	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		10	192	10	192	---	---	---	---
L3MBTL1	26013	broad.mit.edu	37	20	42161556	42161556	+	Silent	SNP	T	T	C	rs201640833		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:42161556T>C	ENST00000427442.2	+	12	1521	c.1362T>C	c.(1360-1362)taT>taC	p.Y454Y	L3MBTL1_ENST00000444063.1_Silent_p.Y386Y|L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y|L3MBTL1_ENST00000418998.1_Silent_p.Y454Y			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	386					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y454Y(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATGATACTTATGACTACTGGT	0.572																																						ENST00000444063.1																			1	Substitution - coding silent(1)	p.Y454Y(1)	prostate(1)	breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1156-1158)taT>taC		l(3)mbt-like 1 (Drosophila)							106.0	87.0	93.0					20																	42161556		2203	4300	6503	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42161556T>C	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1362T>C	20.37:g.42161556T>C						L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y|L3MBTL1_ENST00000427442.2_Silent_p.Y454Y|L3MBTL1_ENST00000418998.1_Silent_p.Y454Y	p.Y386Y			Q9Y468	LMBL1_HUMAN			9	1290	+			386			Interaction with monomethylated and dimethylated peptides.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1158T>C	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	T	9.080	0.999146	0.19121	.	.	ENSG00000185513	ENST00000445228	.	.	.	5.18	-7.69	0.01263	.	.	.	.	.	T	0.62454	0.2429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67833	-0.5568	4	.	.	.	.	16.0457	0.80720	0.0:0.308:0.0:0.692	.	.	.	.	T	77	.	.	M	+	2	0	L3MBTL1	41594970	0.001000	0.12720	0.794000	0.32065	0.989000	0.77384	-1.466000	0.02355	-1.324000	0.02272	-0.285000	0.09966	ATG		0.572	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		7	77	7	77	---	---	---	---
YWHAH	7533	broad.mit.edu	37	22	32346379	32346379	+	Intron	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr22:32346379C>T	ENST00000248975.5	+	1	360				YWHAH_ENST00000471374.1_Intron|YWHAH_ENST00000397492.1_Missense_Mutation_p.P58S	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta						apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CGCCCCTACTCCTGGCTGCAG	0.522																																					Ovarian(98;460 2060 9263 44007)	ENST00000397492.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(172-174)Cct>Tct		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide							125.0	119.0	121.0					22																	32346379		876	1991	2867	SO:0001627	intron_variant	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32346379C>T	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.87+5573C>T	22.37:g.32346379C>T						YWHAH_ENST00000471374.1_Intron|YWHAH_ENST00000248975.5_Intron	p.P58S			Q04917	1433F_HUMAN			2	384	+			0						Missense_Mutation	SNP	ENST00000248975.5	37	c.172C>T	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	C	6.491	0.458805	0.12342	.	.	ENSG00000128245	ENST00000397492	.	.	.	3.78	-1.06	0.10002	.	.	.	.	.	T	0.34861	0.0912	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38802	-0.9644	5	0.87932	D	0	.	3.443	0.07470	0.0:0.4285:0.2009:0.3707	.	.	.	.	S	58	.	ENSP00000380629:P58S	P	+	1	0	YWHAH	30676379	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.643000	0.24750	-0.212000	0.10109	-0.251000	0.11542	CCT		0.522	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		25	90	25	90	---	---	---	---
TBL1XR1	79718	broad.mit.edu	37	3	176768285	176768286	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:176768285_176768286insA	ENST00000430069.1	-	6	799_800	c.540_541insT	c.(538-543)gttagtfs	p.S181fs	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.S181fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	181					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGGAGATCACTAACAGGGTTCC	0.361																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(538-543)gttagtfs		transducin (beta)-like 1 X-linked receptor 1																																				SO:0001589	frameshift_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176768285_176768286insA	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.541dupT	3.37:g.176768287_176768287dupA	ENSP00000405574:p.Ser181fs					TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.S181fs	p.S181fs			Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		6	799_800	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	181					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Frame_Shift_Ins	INS	ENST00000430069.1	37	c.540_541insT	CCDS46961.1																																																																																				0.361	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		15	64	15	64	---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173317315	173317316	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:173317315_173317316insG	ENST00000265085.5	+	1	2033_2034	c.579_580insG	c.(580-582)gggfs	p.G194fs	CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000517880.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	194					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCACCAGGGAGGGGTCCCTGC	0.505																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(580-582)gggfs		cytoplasmic polyadenylation element binding protein 4																																				SO:0001589	frameshift_variant	80315						nucleotide binding|RNA binding	g.chr5:173317315_173317316insG	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.583dupG	5.37:g.173317319_173317319dupG	ENSP00000265085:p.Gly194fs					CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.G194fs	p.G194fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2033_2034	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	194					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Ins	INS	ENST00000265085.5	37	c.579_580insG	CCDS4390.1																																																																																				0.505	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		15	157	15	157	---	---	---	---
MKRN1	23608	broad.mit.edu	37	7	140158897	140158897	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:140158897delG	ENST00000255977.2	-	4	905	c.681delC	c.(679-681)aacfs	p.N227fs	MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	227					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GATACACACAGTTCTCCCCGT	0.522																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(679-681)aacfs		makorin ring finger protein 1							134.0	129.0	131.0					7																	140158897		2203	4300	6503	SO:0001589	frameshift_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158897delG	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.681delC	7.37:g.140158897delG	ENSP00000255977:p.Asn227fs					MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000437223.2_Intron	p.N227fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			4	905	-	Melanoma(164;0.00956)		227					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Frame_Shift_Del	DEL	ENST00000255977.2	37	c.681delC	CCDS5860.1																																																																																				0.522	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		19	233	19	233	---	---	---	---
DYNLRB1	83658	broad.mit.edu	37	20	33122618	33122618	+	Intron	DEL	C	C	-			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:33122618delC	ENST00000357156.2	+	3	297				DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000480759.1_Intron|DYNLRB1_ENST00000417166.2_Frame_Shift_Del_p.S89fs	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1						metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						TCTTCTACCTCCCCATGTAGG	0.532																																						ENST00000417166.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(265-267)tccfs		dynein, light chain, roadblock-type 1							59.0	51.0	53.0					20																	33122618		2203	4300	6503	SO:0001627	intron_variant	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122618delC	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.247+19C>-	20.37:g.33122618delC						DYNLRB1_ENST00000357156.2_Intron|DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000480759.1_Intron	p.S89fs			Q9NP97	DLRB1_HUMAN			3	299	+			0					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Frame_Shift_Del	DEL	ENST00000357156.2	37	c.266delC	CCDS13235.1																																																																																				0.532	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		7	51	7	51	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22658654	22658655	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:22658654_22658655insT	ENST00000400546.1	+	4	652_653	c.403_404insT	c.(403-405)gttfs	p.V135fs	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.V160fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	135	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCAGAAGTGGTTTGCCGAGTT	0.401																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(403-405)gttfs		neural cell adhesion molecule 2																																				SO:0001589	frameshift_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658654_22658655insT		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.406dupT	21.37:g.22658657_22658657dupT	ENSP00000383392:p.Val135fs					NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.V160fs	p.V135fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	652_653	+		Lung NSC(9;0.195)	135			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Ins	INS	ENST00000400546.1	37	c.403_404insT	CCDS42910.1																																																																																				0.401	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		25	87	25	87	---	---	---	---
