#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF283	284349	broad.mit.edu	37	19	44352689	44352689	+	Missense_Mutation	SNP	A	A	G	rs386809610		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:44352689A>G	ENST00000324461.7	+	7	2233	c.1936A>G	c.(1936-1938)Aga>Gga	p.R646G	ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	646			R -> I (in dbSNP:rs10417624).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R646G(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGTTCATGAGAGAACTCATAG	0.368																																						ENST00000324461.7																			1	Substitution - Missense(1)	p.R646G(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(4)	8						c.(1936-1938)Aga>Gga		zinc finger protein 283							91.0	97.0	95.0					19																	44352689		1955	4155	6110	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352689A>G	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1936A>G	19.37:g.44352689A>G	ENSP00000327314:p.Arg646Gly					ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	p.R646G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			7	2233	+		Prostate(69;0.0352)	646		R -> I (in dbSNP:rs10417624).			B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.1936A>G	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259715	0.39995	.	.	ENSG00000167637	ENST00000324461	T	0.49432	0.78	2.89	1.86	0.25419	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45895	0.1365	M	0.81682	2.555	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42413	-0.9453	9	0.59425	D	0.04	.	6.1127	0.20110	0.8666:0.0:0.1334:0.0	.	646	Q8N7M2	ZN283_HUMAN	G	646	ENSP00000327314:R646G	ENSP00000327314:R646G	R	+	1	2	ZNF283	49044529	0.003000	0.15002	0.229000	0.23960	0.174000	0.22865	0.276000	0.18716	0.346000	0.23899	0.455000	0.32223	AGA		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		5	132	0	0	0	0.000157383	0	5	132				
ARHGEF37	389337	broad.mit.edu	37	5	149011707	149011707	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149011707G>C	ENST00000333677.6	+	13	2144	c.1981G>C	c.(1981-1983)Gcc>Ccc	p.A661P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	661	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A661P(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGGCTTCTTGGCCAGGGCTCG	0.592																																						ENST00000333677.6																			1	Substitution - Missense(1)	p.A661P(1)	prostate(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1981-1983)Gcc>Ccc		Rho guanine nucleotide exchange factor (GEF) 37							83.0	86.0	85.0					5																	149011707		1916	4122	6038	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149011707G>C	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1981G>C	5.37:g.149011707G>C	ENSP00000328083:p.Ala661Pro						p.A661P	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			13	2144	+			661			SH3 2.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1981G>C	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086268	0.55861	.	.	ENSG00000183111	ENST00000333677	T	0.68765	-0.35	5.44	5.44	0.79542	Src homology-3 domain (3);	0.284902	0.39407	N	0.001378	T	0.74665	0.3746	M	0.87180	2.865	0.36491	D	0.868442	D	0.56521	0.976	P	0.44597	0.454	T	0.82139	-0.0605	10	0.38643	T	0.18	.	18.8438	0.92196	0.0:0.0:1.0:0.0	.	661	A1IGU5	ARH37_HUMAN	P	661	ENSP00000328083:A661P	ENSP00000328083:A661P	A	+	1	0	ARHGEF37	148991900	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	3.841000	0.55850	2.545000	0.85829	0.655000	0.94253	GCC		0.592	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		3	93	0	0	0	0.00024832	0	3	93				
GPR17	2840	broad.mit.edu	37	2	128408804	128408804	+	Silent	SNP	G	G	A	rs374867696		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128408804G>A	ENST00000272644.3	+	3	653	c.579G>A	c.(577-579)ccG>ccA	p.P193P	LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000544369.1_Silent_p.P193P|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Silent_p.P193P	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	193					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.P193P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCATGGCCCCGCTGCTGGTGA	0.667																																						ENST00000544369.1																			1	Substitution - coding silent(1)	p.P193P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(577-579)ccG>ccA		G protein-coupled receptor 17		G	,,,,,,,	0,4406		0,0,2203	92.0	86.0	88.0		,,,579,495,495,579,	-10.9	0.7	2		88	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,	,,,193/368,165/340,165/340,193/368,	128408804	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408804G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.579G>A	2.37:g.128408804G>A						LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Silent_p.P193P	p.P193P	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1190	+	Colorectal(110;0.1)	Ovarian(717;0.15)	193					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.579G>A	CCDS2148.1																																																																																				0.667	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			45	106	0	0	0	0.000147903	0	45	106				
MRGPRX3	117195	broad.mit.edu	37	11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T	rs551318965		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:18159642C>T	ENST00000396275.2	+	3	1254	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T298M(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562																																						ENST00000396275.2																			1	Substitution - Missense(1)	p.T298M(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(892-894)aCg>aTg		MAS-related GPR, member X3							45.0	48.0	47.0					11																	18159642		2200	4292	6492	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159642C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.893C>T	11.37:g.18159642C>T	ENSP00000379571:p.Thr298Met						p.T298M	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	1254	+			298					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.893C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918658	0.17982	.	.	ENSG00000179826	ENST00000396275	T	0.24538	1.85	1.3	0.311	0.15831	.	0.912774	0.09241	N	0.829205	T	0.23649	0.0572	M	0.71871	2.18	0.20821	N	0.999841	P	0.40476	0.718	B	0.36335	0.222	T	0.24368	-1.0162	10	0.66056	D	0.02	.	3.3533	0.07160	0.0:0.704:0.0:0.296	.	298	Q96LB0	MRGX3_HUMAN	M	298	ENSP00000379571:T298M	ENSP00000379571:T298M	T	+	2	0	MRGPRX3	18116218	0.000000	0.05858	0.560000	0.28344	0.046000	0.14306	0.332000	0.19751	0.097000	0.17492	0.195000	0.17529	ACG		0.562	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		10	80	0	0	0	0.000566183	0	10	80				
SRPRB	58477	broad.mit.edu	37	3	133525537	133525537	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:133525537T>G	ENST00000466490.2	+	3	524	c.239T>G	c.(238-240)cTc>cGc	p.L80R		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	80					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.L80R(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AAAACGTTGCTCTTTGTCAGG	0.403																																						ENST00000466490.2																			1	Substitution - Missense(1)	p.L80R(1)	prostate(1)	breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(238-240)cTc>cGc		signal recognition particle receptor, B subunit							179.0	166.0	170.0					3																	133525537		2203	4300	6503	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133525537T>G	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.239T>G	3.37:g.133525537T>G	ENSP00000418401:p.Leu80Arg						p.L80R	NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN			3	524	+			80					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.239T>G	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560683	0.86335	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.64085	1.28;-0.08	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000025	D	0.84502	0.5486	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89039	0.3447	10	0.87932	D	0	-9.9471	14.9554	0.71110	0.0:0.0:0.0:1.0	.	80	Q9Y5M8	SRPRB_HUMAN	R	80	ENSP00000418401:L80R;ENSP00000417096:L80R	ENSP00000418401:L80R	L	+	2	0	SRPRB	135008227	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	6.561000	0.73955	2.016000	0.59253	0.533000	0.62120	CTC		0.403	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			21	165	0	0	0	0.000132079	0	21	165				
ZHX2	22882	broad.mit.edu	37	8	123964946	123964946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:123964946G>T	ENST00000314393.4	+	3	2031	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	399	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G399V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCGTGGCAGGAGTCACCAAC	0.627																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			1	Substitution - Missense(1)	p.G399V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1195-1197)gGa>gTa		zinc fingers and homeoboxes 2							51.0	57.0	55.0					8																	123964946		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964946G>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1196G>T	8.37:g.123964946G>T	ENSP00000314709:p.Gly399Val						p.G399V	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2031	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		399			Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1196G>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823202	0.50739	.	.	ENSG00000178764	ENST00000314393	T	0.20738	2.05	5.72	5.72	0.89469	.	0.320352	0.32736	N	0.005701	T	0.36303	0.0962	L	0.34521	1.04	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.03017	-1.1082	10	0.54805	T	0.06	-13.1157	15.4162	0.74970	0.0:0.0:1.0:0.0	.	399	Q9Y6X8	ZHX2_HUMAN	V	399	ENSP00000314709:G399V	ENSP00000314709:G399V	G	+	2	0	ZHX2	124034127	0.986000	0.35501	0.986000	0.45419	0.751000	0.42716	2.478000	0.45189	2.718000	0.92993	0.485000	0.47835	GGA		0.627	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		25	57	1	0	5.61819e-17	0.000117367	1.237e-15	25	57				
SDK1	221935	broad.mit.edu	37	7	3990604	3990604	+	Silent	SNP	G	G	A	rs202239316		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:3990604G>A	ENST00000404826.2	+	6	1036	c.897G>A	c.(895-897)ccG>ccA	p.P299P	SDK1_ENST00000389531.3_Silent_p.P299P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	299	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P299P(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGTTCCCCCGGGCAACAGAA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18657	0.001		0.0	False		,,,				2504	0.0					ENST00000404826.2																			1	Substitution - coding silent(1)	p.P299P(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(895-897)ccG>ccA		sidekick cell adhesion molecule 1							102.0	78.0	86.0					7																	3990604		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:3990604G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.897G>A	7.37:g.3990604G>A						SDK1_ENST00000389531.3_Silent_p.P299P	p.P299P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	6	1036	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	299			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.897G>A	CCDS34590.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.362	0.625118	0.14257	.	.	ENSG00000146555	ENST00000426596	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.57130	-0.7864	4	.	.	.	.	6.906	0.24309	0.1597:0.2412:0.5196:0.0794	.	.	.	.	Q	18	.	.	R	+	2	0	SDK1	3957130	0.000000	0.05858	0.027000	0.17364	0.877000	0.50540	-5.232000	0.00139	-3.450000	0.00161	-0.302000	0.09304	CGG		0.522	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		36	68	0	0	0	0.000125731	0	36	68				
IGDCC4	57722	broad.mit.edu	37	15	65685846	65685846	+	Nonsense_Mutation	SNP	G	G	A	rs138576438		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:65685846G>A	ENST00000352385.2	-	10	1947	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	580	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R580*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCATTTCCTCGCACCTCAGTA	0.552																																						ENST00000352385.2																			1	Substitution - Nonsense(1)	p.R580*(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1738-1740)Cga>Tga		immunoglobulin superfamily, DCC subclass, member 4		G	stop/ARG	0,4402		0,0,2201	90.0	79.0	83.0		1738	2.3	1.0	15	dbSNP_134	83	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained	IGDCC4	NM_020962.1		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		580/1251	65685846	1,12999	2201	4299	6500	SO:0001587	stop_gained	57722					integral to membrane|plasma membrane		g.chr15:65685846G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1738C>T	15.37:g.65685846G>A	ENSP00000319623:p.Arg580*						p.R580*	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			10	1947	-			580			Fibronectin type-III 2.		Q9HCE4	Nonsense_Mutation	SNP	ENST00000352385.2	37	c.1738C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	39	7.460534	0.98299	0.0	1.16E-4	ENSG00000103742	ENST00000352385;ENST00000356152	.	.	.	4.63	2.3	0.28687	.	0.627117	0.16751	N	0.201002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-3.2918	5.8376	0.18615	0.2362:0.2095:0.5543:0.0	.	.	.	.	X	580;309	.	ENSP00000319623:R580X	R	-	1	2	IGDCC4	63472899	0.003000	0.15002	0.990000	0.47175	0.833000	0.47200	1.036000	0.30228	1.075000	0.40932	0.491000	0.48974	CGA		0.552	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		32	83	0	0	0	0.00058488	0	32	83				
STAT3	6774	broad.mit.edu	37	17	40474448	40474448	+	Silent	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40474448A>G	ENST00000264657.5	-	21	2265	c.1953T>C	c.(1951-1953)gcT>gcC	p.A651A	STAT3_ENST00000389272.3_Silent_p.A553A|STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000588969.1_Silent_p.A651A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	651	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A651A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGATGATTTCAGCAAATGACA	0.473									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			1	Substitution - coding silent(1)	p.A651A(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1951-1953)gcT>gcC		signal transducer and activator of transcription 3 (acute-phase response factor)							262.0	228.0	240.0					17																	40474448		2203	4300	6503	SO:0001819	synonymous_variant	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474448A>G	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1953T>C	17.37:g.40474448A>G						STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A|STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000585517.1_Silent_p.A651A	p.A651A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	21	2265	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	651			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	ENST00000264657.5	37	c.1953T>C	CCDS32656.1																																																																																				0.473	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		98	239	0	0	0	0.000147903	0	98	239				
FAM47B	170062	broad.mit.edu	37	X	34962549	34962549	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:34962549C>T	ENST00000329357.5	+	1	1637	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	534								p.A534V(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGACGCCGGGCGGCACCGCAT	0.502																																						ENST00000329357.5																			2	Substitution - Missense(2)	p.A534V(2)	prostate(2)	breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1600-1602)gCg>gTg		family with sequence similarity 47, member B							91.0	82.0	85.0					X																	34962549		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962549C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1601C>T	X.37:g.34962549C>T	ENSP00000328307:p.Ala534Val						p.A534V	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1637	+			534					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1601C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	7.505	0.653469	0.14580	.	.	ENSG00000189132	ENST00000329357	T	0.42513	0.97	0.602	0.602	0.17535	.	.	.	.	.	T	0.22513	0.0543	N	0.22421	0.69	0.09310	N	1	P	0.38280	0.625	B	0.28305	0.088	T	0.11421	-1.0588	8	0.59425	D	0.04	.	.	.	.	.	534	Q8NA70	FA47B_HUMAN	V	534	ENSP00000328307:A534V	ENSP00000328307:A534V	A	+	2	0	FAM47B	34872470	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.279000	0.18771	0.543000	0.28864	0.292000	0.19580	GCG		0.502	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		16	57	0	0	0	0.000566183	0	16	57				
GAA	2548	broad.mit.edu	37	17	78079689	78079689	+	Missense_Mutation	SNP	G	G	T	rs145866792		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78079689G>T	ENST00000302262.3	+	3	907	c.688G>T	c.(688-690)Gtg>Ttg	p.V230L	GAA_ENST00000390015.3_Missense_Mutation_p.V230L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	230					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.V230L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGACGGCCGCGTGCTGTGAGT	0.662																																						ENST00000302262.3																			1	Substitution - Missense(1)	p.V230L(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(688-690)Gtg>Ttg		glucosidase, alpha; acid	Acarbose(DB00284)						36.0	33.0	34.0					17																	78079689		2202	4300	6502	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78079689G>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.688G>T	17.37:g.78079689G>T	ENSP00000305692:p.Val230Leu					GAA_ENST00000390015.3_Missense_Mutation_p.V230L	p.V230L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		3	907	+	all_neural(118;0.117)		230					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.688G>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.970961	0.53614	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.83837	-1.77;-1.77	5.15	4.16	0.48862	Glycoside hydrolase-type carbohydrate-binding (1);	0.140625	0.47852	N	0.000213	D	0.87873	0.6287	M	0.92604	3.325	0.40072	D	0.976023	D	0.58970	0.984	P	0.49085	0.6	D	0.88455	0.3051	10	0.56958	D	0.05	-34.7005	8.294	0.31973	0.0794:0.0:0.7636:0.1569	.	230	P10253	LYAG_HUMAN	L	230	ENSP00000305692:V230L;ENSP00000374665:V230L	ENSP00000305692:V230L	V	+	1	0	GAA	75694284	1.000000	0.71417	0.839000	0.33178	0.022000	0.10575	6.308000	0.72820	1.134000	0.42165	-0.182000	0.12963	GTG		0.662	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			22	36	1	0	7.92952e-12	0.000586117	1.71528e-10	22	36				
RPE65	6121	broad.mit.edu	37	1	68906685	68906685	+	Splice_Site	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:68906685T>C	ENST00000262340.5	-	6	549		c.e6-2			NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa						cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.?(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAGATCAACCTACGGAAGTAA	0.428																																						ENST00000262340.5																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.e6-2		retinal pigment epithelium-specific protein 65kDa							61.0	62.0	61.0					1																	68906685		2203	4300	6503	SO:0001630	splice_region_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68906685T>C	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.496-2A>G	1.37:g.68906685T>C								NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			6	549	-								A8K1L0|Q5T9U3	Splice_Site	SNP	ENST00000262340.5	37		CCDS643.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166603	0.38217	.	.	ENSG00000116745	ENST00000262340	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6694	0.77262	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPE65	68679273	1.000000	0.71417	0.971000	0.41717	0.222000	0.24845	7.475000	0.81041	2.107000	0.64212	0.477000	0.44152	.		0.428	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	Intron	4	79	0	0	0	0.00024832	0	4	79				
SLC16A4	9122	broad.mit.edu	37	1	110925493	110925493	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110925493C>G	ENST00000369779.4	-	3	432	c.183G>C	c.(181-183)tgG>tgC	p.W61C	SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	61					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.W61C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TGGATCCAATCCAACCAATTT	0.408																																						ENST00000369779.4																			1	Substitution - Missense(1)	p.W61C(1)	prostate(1)	breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(181-183)tgG>tgC		solute carrier family 16, member 4	Pyruvic acid(DB00119)						136.0	128.0	131.0					1																	110925493		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110925493C>G	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.183G>C	1.37:g.110925493C>G	ENSP00000358794:p.Trp61Cys					SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C|SLC16A4_ENST00000541986.1_Intron	p.W61C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	432	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	61					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.183G>C	CCDS823.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597102	0.66332	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781	T;D;T	0.82081	0.02;-1.57;0.02	4.55	3.61	0.41365	Major facilitator superfamily domain, general substrate transporter (1);	0.262068	0.41396	D	0.000887	D	0.88687	0.6504	M	0.84156	2.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90179	0.4241	10	0.72032	D	0.01	.	12.4566	0.55708	0.1676:0.8324:0.0:0.0	.	61;61;61	G3V175;Q8WU09;O15374	.;.;MOT5_HUMAN	C	61	ENSP00000358794:W61C;ENSP00000432495:W61C;ENSP00000358796:W61C	ENSP00000358794:W61C	W	-	3	0	SLC16A4	110727016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	1.221000	0.43506	0.655000	0.94253	TGG		0.408	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		62	156	0	0	0	0.000147903	0	62	156				
MUC16	94025	broad.mit.edu	37	19	8959691	8959691	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8959691G>A	ENST00000397910.4	-	84	43644	c.43441C>T	c.(43441-43443)Cgg>Tgg	p.R14481W	MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22126	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R14481W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTTCTTCCGCCGGCGGGTG	0.582																																						ENST00000397910.4																			1	Substitution - Missense(1)	p.R14481W(1)	prostate(1)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(43441-43443)Cgg>Tgg		mucin 16, cell surface associated							77.0	78.0	78.0					19																	8959691		1985	4182	6167	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8959691G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43441C>T	19.37:g.8959691G>A	ENSP00000381008:p.Arg14481Trp					MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	p.R14481W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			84	43644	-			22126	Missing (in Ref. 3; AAK74120).		SEA 16.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43441C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454936	0.43634	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.02656	4.21	3.47	1.18	0.20946	.	.	.	.	.	T	0.08044	0.0201	L	0.43701	1.375	.	.	.	D;D	0.89917	1.0;1.0	P;D	0.73708	0.867;0.981	T	0.17684	-1.0361	8	0.87932	D	0	.	7.9759	0.30155	0.0:0.0:0.5341:0.4659	.	22126;14481	Q8WXI7;B5ME49	MUC16_HUMAN;.	W	14481;1122	ENSP00000381008:R14481W	ENSP00000370338:R1122W	R	-	1	2	MUC16	8820691	0.056000	0.20664	0.012000	0.15200	0.005000	0.04900	0.610000	0.24253	0.400000	0.25396	-0.500000	0.04577	CGG		0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	17	0	0	0	0.00010058	0	8	17				
LCE1A	353131	broad.mit.edu	37	1	152800255	152800255	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152800255G>A	ENST00000335123.2	+	1	307	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	103	Cys-rich.				keratinization (GO:0031424)			p.G103S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGACAGCGGCCAGCACTC	0.622																																						ENST00000335123.2																			1	Substitution - Missense(1)	p.G103S(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(307-309)Ggc>Agc		late cornified envelope 1A							16.0	19.0	18.0					1																	152800255		2190	4273	6463	SO:0001583	missense	353131				keratinization			g.chr1:152800255G>A		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.307G>A	1.37:g.152800255G>A	ENSP00000334869:p.Gly103Ser						p.G103S	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	307	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		103			Cys-rich.			Missense_Mutation	SNP	ENST00000335123.2	37	c.307G>A	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	g	2.780	-0.253790	0.05829	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.05081	3.5;3.5	4.3	-8.61	0.00885	.	1.380920	0.05331	N	0.528276	T	0.02267	0.0070	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43605	-0.9381	10	0.87932	D	0	.	10.546	0.45060	0.7437:0.0:0.1464:0.1099	.	103	Q5T7P2	LCE1A_HUMAN	S	103	ENSP00000357755:G103S;ENSP00000334869:G103S	ENSP00000334869:G103S	G	+	1	0	LCE1A	151066879	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.920000	0.01571	-1.867000	0.01144	-1.309000	0.01313	GGC		0.622	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		4	14	0	0	0	0.000442599	0	4	14				
NCAPG2	54892	broad.mit.edu	37	7	158451099	158451099	+	Splice_Site	SNP	T	T	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:158451099T>A	ENST00000409423.1	-	18	2163	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V	NCAPG2_ENST00000409339.3_Splice_Site_p.D664V|NCAPG2_ENST00000449727.2_Splice_Site_p.D664V|NCAPG2_ENST00000541468.1_Splice_Site_p.D165V|NCAPG2_ENST00000275830.10_Splice_Site_p.D456V|NCAPG2_ENST00000356309.3_Splice_Site_p.D664V	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	664					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.D664V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGCGATCATCCTAAAAGCG	0.383																																						ENST00000409339.3																			1	Substitution - Missense(1)	p.D664V(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.e17-1		non-SMC condensin II complex, subunit G2							46.0	45.0	45.0					7																	158451099		1864	4112	5976	SO:0001630	splice_region_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158451099T>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1990-1A>T	7.37:g.158451099T>A						NCAPG2_ENST00000449727.2_Splice_Site_p.D664_splice|NCAPG2_ENST00000409423.1_Splice_Site_p.D664_splice|NCAPG2_ENST00000275830.10_Splice_Site_p.D456_splice|NCAPG2_ENST00000541468.1_Splice_Site_p.D165_splice|NCAPG2_ENST00000356309.3_Splice_Site_p.D664_splice	p.D664_splice			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	17	2104	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	664					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Splice_Site	SNP	ENST00000409423.1	37	c.1989_splice	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.728145|4.728145	0.89390|0.89390	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.38401|.	1.17;1.15;1.15;1.19;1.14;1.14|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.090754|.	0.85682|.	D|.	0.000000|.	T|T	0.73102|0.73102	0.3544|0.3544	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.78314|.	0.991;0.988;0.957;0.98|.	T|T	0.72659|0.72659	-0.4226|-0.4226	10|5	0.87932|.	D|.	0|.	-29.0247|-29.0247	15.9677|15.9677	0.79987|0.79987	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	664;107;456;664|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	V|L	165;664;664;456;664;107;664|466	ENSP00000442337:D165V;ENSP00000348657:D664V;ENSP00000386569:D664V;ENSP00000275830:D456V;ENSP00000387007:D664V;ENSP00000388326:D664V|.	ENSP00000275830:D456V|.	D|M	-|-	2|1	0|0	NCAPG2|NCAPG2	158143860|158143860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	7.064000|7.064000	0.76721|0.76721	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.383	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	Missense_Mutation	14	31	0	0	0	0.000308642	0	14	31				
LRCH1	23143	broad.mit.edu	37	13	47269054	47269054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:47269054G>T	ENST00000389798.3	+	9	1344	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000311191.6_Nonsense_Mutation_p.E383*	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	383								p.E383*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTTCAACCGGAGCCTTCCCT	0.408																																						ENST00000311191.6																			1	Substitution - Nonsense(1)	p.E383*(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1147-1149)Gag>Tag		leucine-rich repeats and calponin homology (CH) domain containing 1							87.0	91.0	90.0					13																	47269054		2203	4300	6503	SO:0001587	stop_gained	23143							g.chr13:47269054G>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1147G>T	13.37:g.47269054G>T	ENSP00000374448:p.Glu383*					LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389798.3_Nonsense_Mutation_p.E383*	p.E383*	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	9	1376	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	383					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Nonsense_Mutation	SNP	ENST00000389798.3	37	c.1147G>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400124	0.96030	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	.	.	.	5.68	2.22	0.28083	.	0.729179	0.12787	N	0.439151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-2.2636	9.8229	0.40894	0.1929:0.0:0.8071:0.0	.	.	.	.	X	383	.	ENSP00000308493:E383X	E	+	1	0	LRCH1	46167055	0.003000	0.15002	0.005000	0.12908	0.820000	0.46376	0.499000	0.22546	0.179000	0.19938	-0.300000	0.09419	GAG		0.408	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		84	82	1	0	7.31121e-38	0.000147903	1.70089e-36	84	82				
SLITRK5	26050	broad.mit.edu	37	13	88328403	88328403	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88328403T>C	ENST00000325089.6	+	2	979	c.760T>C	c.(760-762)Tcc>Ccc	p.S254P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	254	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.S254P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGACAGCATCTCCTATTCAGC	0.507																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.S254P(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(760-762)Tcc>Ccc		SLIT and NTRK-like family, member 5							106.0	106.0	106.0					13																	88328403		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328403T>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.760T>C	13.37:g.88328403T>C	ENSP00000366283:p.Ser254Pro					SLITRK5_ENST00000400028.3_Intron	p.S254P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	979	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		254			LRRCT 1.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.760T>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.701923	0.00725	.	.	ENSG00000165300	ENST00000325089	T	0.52754	0.65	5.61	4.41	0.53225	Cysteine-rich flanking region, C-terminal (1);	0.128132	0.53938	D	0.000051	T	0.18964	0.0455	N	0.01482	-0.84	0.80722	D	1	B	0.13145	0.007	B	0.14023	0.01	T	0.05500	-1.0881	9	.	.	.	-17.4076	10.1719	0.42915	0.1494:0.0:0.0:0.8506	.	254	O94991	SLIK5_HUMAN	P	254	ENSP00000366283:S254P	.	S	+	1	0	SLITRK5	87126404	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.547000	0.53663	0.933000	0.37291	-0.669000	0.03829	TCC		0.507	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			75	242	0	0	0	0.000147903	0	75	242				
LCE1C	353133	broad.mit.edu	37	1	152777624	152777624	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152777624C>T	ENST00000607093.1	-	1	330	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	LCE1C_ENST00000368768.1_Missense_Mutation_p.G111S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	111	Gly-rich.				keratinization (GO:0031424)			p.G111S(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGCTGGCCACTCCCCCCG	0.657																																						ENST00000368768.1																			1	Substitution - Missense(1)	p.G111S(1)	prostate(1)	NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(331-333)Ggc>Agc		late cornified envelope 1C							34.0	40.0	38.0					1																	152777624		2190	4291	6481	SO:0001583	missense	353133				keratinization			g.chr1:152777624C>T		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.331G>A	1.37:g.152777624C>T	ENSP00000475270:p.Gly111Ser					LCE1C_ENST00000607093.1_Missense_Mutation_p.G111S	p.G111S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	381	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		111			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.331G>A	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	0.712	-0.786716	0.02907	.	.	ENSG00000197084	ENST00000368768	T	0.05081	3.5	2.82	-5.64	0.02466	.	1.541000	0.04274	N	0.342653	T	0.02418	0.0074	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41288	-0.9517	10	0.87932	D	0	.	12.4185	0.55508	0.0:0.772:0.0:0.228	.	111	Q5T751	LCE1C_HUMAN	S	111	ENSP00000357757:G111S	ENSP00000357757:G111S	G	-	1	0	LCE1C	151044248	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.057000	0.01395	-1.710000	0.01397	-0.793000	0.03317	GGC		0.657	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		14	39	0	0	0	0.000132079	0	14	39				
FAM126B	285172	broad.mit.edu	37	2	201846109	201846109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:201846109G>A	ENST00000418596.3	-	12	1664	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	493						intracellular (GO:0005622)		p.Q493*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGGTCTTCCTGCAGACTGACA	0.512																																						ENST00000418596.2																			1	Substitution - Nonsense(1)	p.Q493*(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1477-1479)Cag>Tag		family with sequence similarity 126, member B							118.0	97.0	104.0					2																	201846109		2203	4300	6503	SO:0001587	stop_gained	285172					intracellular		g.chr2:201846109G>A	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1477C>T	2.37:g.201846109G>A	ENSP00000393667:p.Gln493*					AC005037.3_ENST00000413848.1_RNA	p.Q493*	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			12	1664	-			493					B2RCG7|Q4ZG87|Q53TX6	Nonsense_Mutation	SNP	ENST00000418596.3	37	c.1477C>T	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055166	0.93793	.	.	ENSG00000155744	ENST00000418596	.	.	.	5.86	4.99	0.66335	.	0.243384	0.42682	D	0.000670	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.8694	14.8489	0.70281	0.0686:0.0:0.9314:0.0	.	.	.	.	X	493	.	ENSP00000393667:Q493X	Q	-	1	0	FAM126B	201554354	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.126000	0.57937	1.491000	0.48482	0.655000	0.94253	CAG		0.512	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		33	60	0	0	0	0.000279167	0	33	60				
SKA1	220134	broad.mit.edu	37	18	47906549	47906549	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:47906549G>A	ENST00000285116.3	+	3	353	c.142G>A	c.(142-144)Gta>Ata	p.V48I	SKA1_ENST00000417656.2_Missense_Mutation_p.V48I|SKA1_ENST00000488454.1_Intron|SKA1_ENST00000398452.2_Missense_Mutation_p.V48I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	48					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.V48I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TGAGATCATTGTAATAAATGA	0.289																																						ENST00000285116.3																			1	Substitution - Missense(1)	p.V48I(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.(142-144)Gta>Ata		spindle and kinetochore associated complex subunit 1							49.0	58.0	55.0					18																	47906549		2195	4279	6474	SO:0001583	missense	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47906549G>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.142G>A	18.37:g.47906549G>A	ENSP00000285116:p.Val48Ile					SKA1_ENST00000417656.2_Missense_Mutation_p.V48I|SKA1_ENST00000398452.2_Missense_Mutation_p.V48I|SKA1_ENST00000488454.1_Intron	p.V48I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN			3	353	+			48					B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	c.142G>A	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	G	9.012	0.982822	0.18889	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.42131	0.98;0.98;0.98	6.06	0.865	0.19074	.	1.032160	0.07623	N	0.927298	T	0.25606	0.0623	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.25047	-1.0143	10	0.21540	T	0.41	-0.4769	5.0435	0.14471	0.3703:0.1813:0.4484:0.0	.	48;48	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	I	48	ENSP00000285116:V48I;ENSP00000397222:V48I;ENSP00000381470:V48I	ENSP00000285116:V48I	V	+	1	0	SKA1	46160547	0.696000	0.27757	0.141000	0.22245	0.937000	0.57800	0.487000	0.22356	0.116000	0.18110	-0.157000	0.13467	GTA		0.289	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		79	151	0	0	0	0.000147903	0	79	151				
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	lincRNA	SNP	G	G	C	rs3118888		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1				long intergenic non-protein coding RNA 264																		GCTGAAACATGGAAGGTAAAA	0.483																																						ENST00000412114.1																			0																																																			0							g.chr10:26880338G>C			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880338G>C								NR_026793.1						0	573	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.483	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	31	0	0	0	6.4e-05	0	3	31				
RP11-383M4.6	0	broad.mit.edu	37	9	84547870	84547870	+	lincRNA	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:84547870T>C	ENST00000585776.1	-	0	1039				RP11-383M4.2_ENST00000427387.1_lincRNA|SPATA31D4_ENST00000341875.4_RNA																							CGTGAACCCATAGAAATCTTC	0.428																																						ENST00000585776.1																			0																				14.0	11.0	12.0					9																	84547870		675	1541	2216			0							g.chr9:84547870T>C																													9.37:g.84547870T>C						SPATA31D4_ENST00000341875.4_RNA								0	1039	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.428	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			4	17	0	0	0	0.00024832	0	4	17				
TRIM49	57093	broad.mit.edu	37	11	89531568	89531568	+	Silent	SNP	T	T	C	rs560492199	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20193	0.001		0.0	False		,,,				2504	0.0					ENST00000329758.1																			3	Substitution - coding silent(3)	p.K363K(3)	endometrium(2)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1087-1089)aaA>aaG		tripartite motif containing 49							74.0	79.0	77.0					11																	89531568		2195	4299	6494	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531568T>C	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1089A>G	11.37:g.89531568T>C						TRIM49_ENST00000532501.2_Silent_p.K286K	p.K363K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1417	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	363			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.1089A>G	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		6	225	0	0	0	3.59834e-05	0	6	225				
FER1L6	654463	broad.mit.edu	37	8	125072891	125072891	+	Missense_Mutation	SNP	G	G	A	rs138376786	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:125072891G>A	ENST00000522917.1	+	24	3294	c.3088G>A	c.(3088-3090)Gtg>Atg	p.V1030M	FER1L6_ENST00000399018.1_Missense_Mutation_p.V1030M|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1030						integral component of membrane (GO:0016021)		p.V1030M(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGTCCTGCGTGATCCAGAG	0.547													G|||	4	0.000798722	0.0	0.0014	5008	,	,		17487	0.0		0.001	False		,,,				2504	0.002					ENST00000522917.1																			2	Substitution - Missense(2)	p.V1030M(2)	large_intestine(1)|prostate(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3088-3090)Gtg>Atg		fer-1-like 6 (C. elegans)		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	145.0	131.0	136.0		3088	5.9	1.0	8	dbSNP_134	136	16,8584	10.5+/-38.8	0,16,4284	yes	missense	FER1L6	NM_001039112.2	21	0,17,6486	AA,AG,GG		0.186,0.0227,0.1307	probably-damaging	1030/1858	125072891	17,12989	2203	4300	6503	SO:0001583	missense	654463					integral to membrane		g.chr8:125072891G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3088G>A	8.37:g.125072891G>A	ENSP00000428280:p.Val1030Met					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V1030M	p.V1030M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		24	3294	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1030						Missense_Mutation	SNP	ENST00000522917.1	37	c.3088G>A	CCDS43767.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	26.3	4.719859	0.89205	2.27E-4	0.00186	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81579	-1.51;-1.51	5.95	5.95	0.96441	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.90724	0.7089	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90657	0.4587	10	0.66056	D	0.02	-16.6725	19.9804	0.97323	0.0:0.0:1.0:0.0	.	1030	Q2WGJ9	FR1L6_HUMAN	M	1030	ENSP00000428280:V1030M;ENSP00000381982:V1030M	ENSP00000381982:V1030M	V	+	1	0	FER1L6	125142072	0.999000	0.42202	0.993000	0.49108	0.964000	0.63967	2.637000	0.46553	2.825000	0.97269	0.655000	0.94253	GTG		0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		8	137	0	0	0	0.000274275	0	8	137				
PAPLN	89932	broad.mit.edu	37	14	73731013	73731013	+	Missense_Mutation	SNP	G	G	A	rs145618706	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:73731013G>A	ENST00000554301.1	+	20	3119	c.2956G>A	c.(2956-2958)Gac>Aac	p.D986N	PAPLN_ENST00000427855.1_Missense_Mutation_p.D986N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D959N|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Missense_Mutation_p.D986N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D970N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	986	Ig-like C2-type 1.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.D986N(1)|p.D959N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGGCCGCGACTCCCAGAA	0.647													G|||	7	0.00139776	0.0	0.0	5008	,	,		15827	0.0		0.001	False		,,,				2504	0.0061					ENST00000427855.1																			2	Substitution - Missense(2)	p.D986N(1)|p.D959N(1)	prostate(2)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(2956-2958)Gac>Aac		papilin, proteoglycan-like sulfated glycoprotein		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	61.0	65.0	63.0		2875	-1.5	0.0	14	dbSNP_134	63	4,8596	3.7+/-12.6	0,4,4296	yes	missense	PAPLN	NM_173462.3	23	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	959/1252	73731013	5,13001	2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73731013G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2956G>A	14.37:g.73731013G>A	ENSP00000451803:p.Asp986Asn					PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Missense_Mutation_p.D986N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D959N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D970N|PAPLN_ENST00000554301.1_Missense_Mutation_p.D986N	p.D986N			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	21	3058	+			986			Ig-like C2-type 1.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.2956G>A		.	.	.	.	.	.	.	.	.	.	G	10.76	1.440250	0.25900	2.27E-4	4.65E-4	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.08	-1.51	0.08664	Immunoglobulin I-set (1);Immunoglobulin-like (1);	.	.	.	.	T	0.52468	0.1736	L	0.49350	1.555	0.09310	N	1	B;B;B;B;B	0.18310	0.009;0.027;0.021;0.016;0.021	B;B;B;B;B	0.13407	0.004;0.007;0.009;0.009;0.006	T	0.49437	-0.8940	9	0.66056	D	0.02	.	1.6888	0.02847	0.2949:0.2259:0.3641:0.1151	.	970;986;986;185;959	O95428-5;O95428;O95428-4;O95428-2;O95428-6	.;PPN_HUMAN;.;.;.	N	959;986;986;986;970	ENSP00000345395:D959N;ENSP00000403403:D986N;ENSP00000370558:D986N;ENSP00000451803:D986N;ENSP00000451729:D970N	ENSP00000345395:D959N	D	+	1	0	PAPLN	72800766	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.536000	0.23129	-0.092000	0.12417	-1.020000	0.02445	GAC		0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		16	38	0	0	0	0.00047179	0	16	38				
CRNN	49860	broad.mit.edu	37	1	152382359	152382359	+	Missense_Mutation	SNP	G	G	A	rs200128647		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152382359G>A	ENST00000271835.3	-	3	1261	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	400					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.P400L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCCCGGTACTGTCTC	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		23894	0.0		0.0	False		,,,				2504	0.0					ENST00000271835.3																			1	Substitution - Missense(1)	p.P400L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1198-1200)cCg>cTg		cornulin							96.0	80.0	85.0					1																	152382359		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382359G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1199C>T	1.37:g.152382359G>A	ENSP00000271835:p.Pro400Leu					RP1-91G5.3_ENST00000411804.1_RNA	p.P400L	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1261	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		400					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1199C>T	CCDS1010.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.586	-0.084551	0.07097	.	.	ENSG00000143536	ENST00000271835	T	0.03745	3.82	5.01	-10.0	0.00425	.	1.727610	0.03049	N	0.154336	T	0.00300	0.0009	N	0.01242	-0.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39603	-0.9606	10	0.02654	T	1	.	9.1807	0.37141	0.1601:0.0:0.5346:0.3053	.	400	Q9UBG3	CRNN_HUMAN	L	400	ENSP00000271835:P400L	ENSP00000271835:P400L	P	-	2	0	CRNN	150648983	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.802000	0.04545	-3.270000	0.00200	-1.627000	0.00785	CCG		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		50	105	0	0	0	0.000147903	0	50	105				
PI4KAP2	375133	broad.mit.edu	37	22	21829507	21829507	+	RNA	SNP	G	G	A	rs140118179		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:21829507G>A	ENST00000450651.1	-	0	1831							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						TACTTCAAGAGCTTGATTGTC	0.542																																						ENST00000450651.1																			0				endometrium(3)|urinary_tract(1)	4															22.0	17.0	18.0					22																	21829507		676	1519	2195			0							g.chr22:21829507G>A			22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21829507G>A														0	1831	-								Q6ICJ0|Q6ZT68|Q8WUK7	RNA	SNP	ENST00000450651.1	37																																																																																						0.542	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334908.1			5	10	0	0	0	1.23904e-05	0	5	10				
LRIT2	340745	broad.mit.edu	37	10	85981837	85981837	+	Missense_Mutation	SNP	G	G	A	rs372043491		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:85981837G>A	ENST00000372113.4	-	3	1497	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	LRIT2_ENST00000538192.1_Missense_Mutation_p.R508C	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	498						integral component of membrane (GO:0016021)		p.R498C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGACAGCCGCGCAGGACCCAC	0.637																																						ENST00000372113.4																			1	Substitution - Missense(1)	p.R498C(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1492-1494)Cgc>Tgc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2		G	CYS/ARG	0,4406		0,0,2203	35.0	42.0	39.0		1492	-7.5	0.0	10		39	1,8599		0,1,4299	no	missense	LRIT2	NM_001017924.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	498/551	85981837	1,13005	2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85981837G>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1492C>T	10.37:g.85981837G>A	ENSP00000361185:p.Arg498Cys					LRIT2_ENST00000538192.1_Missense_Mutation_p.R508C	p.R498C	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1497	-			498					B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1492C>T	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	6.370	0.436418	0.12104	0.0	1.16E-4	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.18810	2.19;2.19	4.84	-7.51	0.01346	.	2.754420	0.00829	N	0.001641	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.0;0.011	B;B	0.04013	0.0;0.001	T	0.17592	-1.0364	10	0.51188	T	0.08	.	0.4567	0.00509	0.2222:0.199:0.2883:0.2905	.	508;498	B7ZME6;A6NDA9	.;LRIT2_HUMAN	C	498;508	ENSP00000361185:R498C;ENSP00000438264:R508C	ENSP00000361185:R498C	R	-	1	0	LRIT2	85971817	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.420000	0.02457	-1.283000	0.02393	-1.007000	0.02485	CGC		0.637	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		38	87	0	0	0	0.000374591	0	38	87				
RNF17	56163	broad.mit.edu	37	13	25416253	25416253	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:25416253A>G	ENST00000255324.5	+	19	2609	c.2557A>G	c.(2557-2559)Att>Gtt	p.I853V	RNF17_ENST00000381921.1_Missense_Mutation_p.I853V|RNF17_ENST00000339524.3_5'Flank	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	853					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I853V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TACTACTAGTATTAATGACCA	0.343																																						ENST00000255324.5																			1	Substitution - Missense(1)	p.I853V(1)	prostate(1)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2557-2559)Att>Gtt		ring finger protein 17							147.0	138.0	141.0					13																	25416253		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25416253A>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2557A>G	13.37:g.25416253A>G	ENSP00000255324:p.Ile853Val					RNF17_ENST00000381921.1_Missense_Mutation_p.I853V	p.I853V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	19	2609	+		Lung SC(185;0.0225)|Breast(139;0.077)	853					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2557A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	8.723	0.914770	0.17907	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.28895	1.59;1.59;1.59	5.29	2.62	0.31277	Staphylococcal nuclease (SNase-like) (1);	0.231736	0.35207	N	0.003368	T	0.15869	0.0382	N	0.20986	0.625	0.80722	D	1	B;B;B	0.15719	0.005;0.001;0.014	B;B;B	0.16289	0.007;0.003;0.015	T	0.07520	-1.0768	10	0.19147	T	0.46	-13.2712	4.9152	0.13842	0.6735:0.0:0.3265:0.0	.	853;853;853	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	V	853;853;712;177	ENSP00000255324:I853V;ENSP00000371346:I853V;ENSP00000388892:I177V	ENSP00000255324:I853V	I	+	1	0	RNF17	24314253	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	0.877000	0.28106	0.966000	0.38159	0.477000	0.44152	ATT		0.343	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		55	127	0	0	0	0.000147903	0	55	127				
CPSF3	51692	broad.mit.edu	37	2	9595849	9595849	+	Silent	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:9595849C>G	ENST00000238112.3	+	13	1772	c.1566C>G	c.(1564-1566)ccC>ccG	p.P522P	CPSF3_ENST00000460593.1_Silent_p.P485P	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	522					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.P522P(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATACTGGTCCCTTTAATTTGC	0.383																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			1	Substitution - coding silent(1)	p.P522P(1)	prostate(1)	NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1453-1455)ccC>ccG		cleavage and polyadenylation specific factor 3, 73kDa							121.0	120.0	120.0					2																	9595849		2203	4300	6503	SO:0001819	synonymous_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9595849C>G	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1566C>G	2.37:g.9595849C>G						CPSF3_ENST00000238112.3_Silent_p.P522P	p.P485P			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	13	2593	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	522					O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	c.1455C>G	CCDS1664.1																																																																																				0.383	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		14	121	0	0	0	0.000422831	0	14	121				
PROKR1	10887	broad.mit.edu	37	2	68882252	68882252	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:68882252G>T	ENST00000303786.3	+	3	1146	c.726G>T	c.(724-726)gtG>gtT	p.V242V	PROKR1_ENST00000394342.2_Silent_p.V242V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	242					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.V242V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGAATTCGTGGGCCCCGTGG	0.557																																						ENST00000303786.3																			1	Substitution - coding silent(1)	p.V242V(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(724-726)gtG>gtT		prokineticin receptor 1							99.0	95.0	97.0					2																	68882252		2203	4300	6503	SO:0001819	synonymous_variant	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882252G>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.726G>T	2.37:g.68882252G>T						PROKR1_ENST00000394342.2_Silent_p.V242V	p.V242V			Q8TCW9	PKR1_HUMAN			3	1146	+			242					A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	c.726G>T	CCDS1889.1																																																																																				0.557	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			32	86	1	0	9.78306e-22	0.000279167	2.19319e-20	32	86				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	33	0	0	0	3.59834e-05	0	5	33				
PTGFRN	5738	broad.mit.edu	37	1	117529548	117529548	+	Missense_Mutation	SNP	C	C	T	rs140355100|rs34483540		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117529548C>T	ENST00000393203.2	+	9	2746	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	867					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R867W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAGGAGACACGGCGCGAGCG	0.617																																						ENST00000393203.2																			1	Substitution - Missense(1)	p.R867W(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2599-2601)Cgg>Tgg		prostaglandin F2 receptor inhibitor							102.0	101.0	101.0					1																	117529548		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117529548C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2599C>T	1.37:g.117529548C>T	ENSP00000376899:p.Arg867Trp						p.R867W	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	9	2746	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	867					Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2599C>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011030	0.54361	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.32988	1.43	6.16	-3.92	0.04155	.	0.064020	0.64402	D	0.000012	T	0.39332	0.1074	L	0.51422	1.61	0.30394	N	0.780742	D	0.89917	1.0	D	0.87578	0.998	T	0.60271	-0.7296	10	0.87932	D	0	-35.0866	25.0221	0.99992	0.1362:0.8638:0.0:0.0	.	867	Q9P2B2	FPRP_HUMAN	W	867;726	ENSP00000376899:R867W	ENSP00000376899:R867W	R	+	1	2	PTGFRN	117331071	0.001000	0.12720	0.195000	0.23364	0.988000	0.76386	-0.294000	0.08309	-0.534000	0.06315	-0.275000	0.10095	CGG		0.617	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		56	108	0	0	0	0.000147903	0	56	108				
GJA5	2702	broad.mit.edu	37	1	147230995	147230995	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:147230995G>A	ENST00000271348.2	-	2	513	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	GJA5_ENST00000369237.1_Missense_Mutation_p.R118W|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	118					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.R118W(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGAGCCCCGGACCTCTTTG	0.622																																						ENST00000271348.2																			1	Substitution - Missense(1)	p.R118W(1)	prostate(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(352-354)Cgg>Tgg		gap junction protein, alpha 5, 40kDa							67.0	67.0	67.0					1																	147230995		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230995G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.352C>T	1.37:g.147230995G>A	ENSP00000271348:p.Arg118Trp					GJA5_ENST00000369237.1_Missense_Mutation_p.R118W	p.R118W	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	513	-	all_hematologic(923;0.0276)		118					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.352C>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	9.323	1.058560	0.19987	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97752	-4.48;-4.48;-4.52	5.01	-1.01	0.10169	.	1.697480	0.02990	N	0.146749	D	0.92980	0.7766	L	0.36672	1.1	0.09310	N	1	D	0.62365	0.991	P	0.44860	0.462	D	0.88575	0.3132	10	0.66056	D	0.02	.	10.555	0.45112	0.0:0.2584:0.4905:0.2511	.	118	P36382	CXA5_HUMAN	W	118	ENSP00000271348:R118W;ENSP00000358240:R118W;ENSP00000407645:R118W	ENSP00000271348:R118W	R	-	1	2	GJA5	145697619	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.429000	0.21412	-0.002000	0.14469	-0.257000	0.10917	CGG		0.622	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		53	149	0	0	0	0.000147903	0	53	149				
MYH15	22989	broad.mit.edu	37	3	108117984	108117984	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:108117984A>T	ENST00000273353.3	-	35	4983	c.4927T>A	c.(4927-4929)Tgt>Agt	p.C1643S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1643						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.C1643S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGGTTGGCACAGCTAAGCTGG	0.488																																						ENST00000273353.3																			1	Substitution - Missense(1)	p.C1643S(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(4927-4929)Tgt>Agt		myosin, heavy chain 15							89.0	91.0	91.0					3																	108117984		2149	4294	6443	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108117984A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4927T>A	3.37:g.108117984A>T	ENSP00000273353:p.Cys1643Ser						p.C1643S	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			35	4983	-			1643						Missense_Mutation	SNP	ENST00000273353.3	37	c.4927T>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115214	0.37339	.	.	ENSG00000144821	ENST00000273353	D	0.81659	-1.52	5.91	-5.88	0.02290	Myosin tail (1);	.	.	.	.	T	0.60025	0.2237	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.48502	-0.9030	9	0.72032	D	0.01	.	2.3237	0.04217	0.2627:0.1179:0.4095:0.2099	.	1643	Q9Y2K3	MYH15_HUMAN	S	1643	ENSP00000273353:C1643S	ENSP00000273353:C1643S	C	-	1	0	MYH15	109600674	0.089000	0.21612	0.000000	0.03702	0.472000	0.32918	0.977000	0.29475	-0.857000	0.04115	0.528000	0.53228	TGT		0.488	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		66	96	0	0	0	0.000147903	0	66	96				
TPR	7175	broad.mit.edu	37	1	186289546	186289546	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186289546G>A	ENST00000367478.4	-	46	6762	c.6466C>T	c.(6466-6468)Ccg>Tcg	p.P2156S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2156					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.P2156S(2)|p.P2143S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAACCTGCGGCGAACTAAAT	0.398			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		3	Substitution - Missense(3)	p.P2156S(2)|p.P2143S(1)	prostate(3)	autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(6466-6468)Ccg>Tcg		translocated promoter region, nuclear basket protein							63.0	55.0	57.0					1																	186289546		1829	4076	5905	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186289546G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6466C>T	1.37:g.186289546G>A	ENSP00000356448:p.Pro2156Ser						p.P2156S	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	46	6762	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2156					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6466C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095884	0.56075	.	.	ENSG00000047410	ENST00000367478	T	0.73681	-0.77	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.75264	2.295	0.80722	D	1	D	0.64830	0.994	P	0.56343	0.796	D	0.84963	0.0878	10	0.52906	T	0.07	.	18.7252	0.91711	0.0:0.0:1.0:0.0	.	2156	P12270	TPR_HUMAN	S	2156	ENSP00000356448:P2156S	ENSP00000356448:P2156S	P	-	1	0	TPR	184556169	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	8.950000	0.93019	2.421000	0.82119	0.563000	0.77884	CCG		0.398	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		14	63	0	0	0	0.000422831	0	14	63				
CLEC5A	23601	broad.mit.edu	37	7	141635653	141635653	+	Silent	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141635653T>C	ENST00000546910.1	-	5	502	c.306A>G	c.(304-306)aaA>aaG	p.K102K	CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.K79K|CLEC5A_ENST00000438351.1_Silent_p.K79K	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	102	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)	p.K102K(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATGTGGATCCTTTTCCTTTGC	0.448																																					GBM(154;1592 2613 3360 42983)	ENST00000546910.1																			1	Substitution - coding silent(1)	p.K102K(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10						c.(304-306)aaA>aaG		C-type lectin domain family 5, member A							161.0	139.0	146.0					7																	141635653		2203	4300	6503	SO:0001819	synonymous_variant	23601				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	g.chr7:141635653T>C		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.306A>G	7.37:g.141635653T>C						CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.K79K|CLEC5A_ENST00000438351.1_Silent_p.K79K|CLEC5A_ENST00000439991.1_Intron	p.K102K	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN			5	502	-	Melanoma(164;0.0171)		102			C-type lectin.		Q52M11|Q9UKQ0	Silent	SNP	ENST00000546910.1	37	c.306A>G	CCDS5870.1																																																																																				0.448	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		43	168	0	0	0	0.000589545	0	43	168				
ABCA4	24	broad.mit.edu	37	1	94514475	94514475	+	Missense_Mutation	SNP	C	C	T	rs61749441	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:94514475C>T	ENST00000370225.3	-	18	2778	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	ABCA4_ENST00000535735.1_Missense_Mutation_p.E824K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	898					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.E898K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTTAGGGGCTCGGTCTTTTCC	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		17850	0.0		0.002	False		,,,				2504	0.0					ENST00000370225.3																			1	Substitution - Missense(1)	p.E898K(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM012875	ABCA4	M	rs61749441	c.(2692-2694)Gag>Aag		ATP-binding cassette, sub-family A (ABC1), member 4		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	165.0	148.0	154.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2692	5.3	0.8	1	dbSNP_129	154	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ABCA4	NM_000350.2	56	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	898/2274	94514475	3,13003	2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94514475C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2692G>A	1.37:g.94514475C>T	ENSP00000359245:p.Glu898Lys					ABCA4_ENST00000535735.1_Missense_Mutation_p.E824K	p.E898K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	18	2778	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	898					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2692G>A	CCDS747.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.12	1.544018	0.27563	2.27E-4	2.33E-4	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91407	-2.79;-2.84	5.35	5.35	0.76521	.	1.680890	0.02684	N	0.109977	D	0.91250	0.7242	L	0.46157	1.445	0.31607	N	0.651949	D;B	0.76494	0.999;0.074	D;B	0.76575	0.988;0.018	T	0.80743	-0.1246	10	0.11794	T	0.64	.	14.9185	0.70815	0.0:1.0:0.0:0.0	rs61749441	824;898	F5H6E5;P78363	.;ABCA4_HUMAN	K	898;824	ENSP00000359245:E898K;ENSP00000437682:E824K	ENSP00000359245:E898K	E	-	1	0	ABCA4	94287063	0.879000	0.30193	0.775000	0.31657	0.604000	0.37047	3.717000	0.54911	2.642000	0.89623	0.655000	0.94253	GAG		0.517	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		14	171	0	0	0	7.07596e-05	0	14	171				
COL1A1	1277	broad.mit.edu	37	17	48264184	48264184	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:48264184C>T	ENST00000225964.5	-	48	3749	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1211	Nonhelical region (C-terminal).				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.D1211N(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CGGCCACCATCGTGAGCCTTC	0.637			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	1	Substitution - Missense(1)	p.D1211N(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3631-3633)Gat>Aat		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						108.0	97.0	101.0					17																	48264184		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48264184C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3631G>A	17.37:g.48264184C>T	ENSP00000225964:p.Asp1211Asn						p.D1211N	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			48	3749	-			1211			Nonhelical region (C-terminal).		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3631G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776835	0.49786	.	.	ENSG00000108821	ENST00000225964	D	0.89681	-2.55	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.94588	0.8256	M	0.88105	2.93	0.58432	D	0.999996	D	0.69078	0.997	D	0.74348	0.983	D	0.94416	0.7636	10	0.38643	T	0.18	.	14.7474	0.69499	0.0:1.0:0.0:0.0	.	1211	P02452	CO1A1_HUMAN	N	1211	ENSP00000225964:D1211N	ENSP00000225964:D1211N	D	-	1	0	COL1A1	45619183	0.959000	0.32827	0.998000	0.56505	0.285000	0.27093	5.612000	0.67681	1.984000	0.57885	0.313000	0.20887	GAT		0.637	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			45	122	0	0	0	0.000147903	0	45	122				
COL22A1	169044	broad.mit.edu	37	8	139788238	139788238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:139788238G>A	ENST00000303045.6	-	16	2220	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R592*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	592	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTTTCACCTCGTTCTCCTTGG	0.493										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1774-1776)Cga>Tga		collagen, type XXII, alpha 1							230.0	201.0	211.0					8																	139788238		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139788238G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1774C>T	8.37:g.139788238G>A	ENSP00000303153:p.Arg592*	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R592*	p.R592*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		16	2220	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		592			Collagen-like 3.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.1774C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	44	10.833860	0.99475	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	.	.	.	4.41	4.41	0.53225	.	0.157271	0.28093	N	0.016625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	12.8234	0.57707	0.0:0.0:1.0:0.0	.	.	.	.	X	592	.	ENSP00000303153:R592X	R	-	1	2	COL22A1	139857420	0.929000	0.31497	0.999000	0.59377	0.956000	0.61745	2.729000	0.47327	2.748000	0.94277	0.655000	0.94253	CGA		0.493	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	232	0	0	0	8.12818e-05	0	6	232				
SCGB2A2	4250	broad.mit.edu	37	11	62038408	62038408	+	Silent	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62038408G>C	ENST00000227918.2	+	2	173	c.111G>C	c.(109-111)gtG>gtC	p.V37V	SCGB2A2_ENST00000525380.1_Silent_p.V37V	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	37								p.V37V(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						ATCCACAAGTGTCTAAGACTG	0.418																																						ENST00000525380.1																			1	Substitution - coding silent(1)	p.V37V(1)	prostate(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(109-111)gtG>gtC		secretoglobin, family 2A, member 2							107.0	98.0	101.0					11																	62038408		2202	4299	6501	SO:0001819	synonymous_variant	4250					extracellular region	steroid binding	g.chr11:62038408G>C	AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"""Secretoglobins"""	7050	protein-coding gene	gene with protein product	"""mammaglobin A"""	605562	"""mammaglobin 1"""	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	ENST00000227918.2:c.111G>C	11.37:g.62038408G>C						SCGB2A2_ENST00000227918.2_Silent_p.V37V	p.V37V			Q13296	SG2A2_HUMAN			2	170	+			37					A1A522|Q86WH8	Silent	SNP	ENST00000227918.2	37	c.111G>C	CCDS8018.1																																																																																				0.418	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394860.1	NM_002411		55	128	0	0	0	0.000147903	0	55	128				
ALDH1A2	8854	broad.mit.edu	37	15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498																																						ENST00000249750.4																			1	Substitution - Missense(1)	p.R85S(1)	lung(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(253-255)Cgc>Tgc		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						192.0	211.0	204.0					15																	58306166		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306166G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.253C>T	15.37:g.58306166G>A	ENSP00000249750:p.Arg85Cys					ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR	p.R85C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	3	1020	-			85					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.253C>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824484	0.50739	.	.	ENSG00000128918	ENST00000249750;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.78126	-1.15;2.15;-1.15	4.69	3.77	0.43336	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.973;0.954;0.99;0.995	D	0.92736	0.6204	10	0.87932	D	0	.	12.2655	0.54676	0.0:0.0:0.6916:0.3084	.	56;64;85;85	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	C	85;56;85;64	ENSP00000249750:R85C;ENSP00000309623:R85C;ENSP00000438296:R64C	ENSP00000249750:R85C	R	-	1	0	ALDH1A2	56093458	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.298000	0.78815	1.180000	0.42898	-0.169000	0.13324	CGC		0.498	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			7	547	0	0	0	0.000274275	0	7	547				
LYST	1130	broad.mit.edu	37	1	235950607	235950607	+	Silent	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:235950607A>G	ENST00000389794.3	-	14	4929	c.4755T>C	c.(4753-4755)aaT>aaC	p.N1585N	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.N1585N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGGAAAATATTCTCCTGTG	0.418																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4753-4755)aaT>aaC		lysosomal trafficking regulator							204.0	200.0	202.0					1																	235950607		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235950607A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4755T>C	1.37:g.235950607A>G						LYST_ENST00000389793.2_Silent_p.N1585N|LYST_ENST00000536965.1_3'UTR	p.N1585N			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		14	4929	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1585					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.4755T>C	CCDS31062.1																																																																																				0.418	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	457	0	0	0	0.000157383	0	7	457				
SEPSECS	51091	broad.mit.edu	37	4	25160704	25160704	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:25160704T>C	ENST00000382103.2	-	2	212	c.140A>G	c.(139-141)gAt>gGt	p.D47G	SEPSECS_ENST00000302922.3_Intron|PI4K2B_ENST00000512921.1_5'Flank	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	47					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.D47G(2)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TGTACTTTCATCCCAGCCATT	0.363																																						ENST00000382103.2																			2	Substitution - Missense(2)	p.D47G(2)	prostate(1)|kidney(1)	endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(139-141)gAt>gGt		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Pyridoxal Phosphate(DB00114)						118.0	108.0	111.0					4																	25160704		1865	4098	5963	SO:0001583	missense	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25160704T>C	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.140A>G	4.37:g.25160704T>C	ENSP00000371535:p.Asp47Gly					SEPSECS_ENST00000302922.3_Intron	p.D47G	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN			2	212	-		Breast(46;0.173)	47					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	c.140A>G	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137631	0.37728	.	.	ENSG00000109618	ENST00000382103;ENST00000513285	D;D	0.81908	-1.55;-1.55	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major domain (1);	0.188853	0.56097	D	0.000029	D	0.84257	0.5432	M	0.72894	2.215	0.80722	D	1	B;B	0.25904	0.137;0.028	B;B	0.32533	0.147;0.008	T	0.82750	-0.0303	10	0.56958	D	0.05	-2.1426	15.9715	0.80025	0.0:0.0:0.0:1.0	.	46;47	Q9HD40-3;Q9HD40	.;SPCS_HUMAN	G	47;132	ENSP00000371535:D47G;ENSP00000423361:D132G	ENSP00000371535:D47G	D	-	2	0	SEPSECS	24769802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.862000	0.48388	2.165000	0.68154	0.528000	0.53228	GAT		0.363	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		9	44	0	0	0	0.00047179	0	9	44				
TGFBR1	7046	broad.mit.edu	37	9	101900330	101900330	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:101900330G>T	ENST00000374994.4	+	4	881	c.764G>T	c.(763-765)cGt>cTt	p.R255L	TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259L|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178L|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186L	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R255L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTAATGTTACGTCATGAAAAC	0.378																																						ENST00000374994.4																			1	Substitution - Missense(1)	p.R255L(1)	prostate(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(763-765)cGt>cTt		transforming growth factor, beta receptor 1							138.0	136.0	137.0					9																	101900330		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101900330G>T		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.764G>T	9.37:g.101900330G>T	ENSP00000364133:p.Arg255Leu					TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259L|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186L|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178L	p.R255L	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			4	881	+		Acute lymphoblastic leukemia(62;0.0559)	255			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.764G>T	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470776	0.84533	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97642	0.9227	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98619	1.0666	9	.	.	.	.	17.8646	0.88792	0.0:0.0:1.0:0.0	.	178;255	P36897-3;P36897	.;TGFR1_HUMAN	L	255;255;178;259;109;186	ENSP00000364133:R255L;ENSP00000364129:R178L;ENSP00000447297:R259L;ENSP00000449028:R109L;ENSP00000450052:R186L	.	R	+	2	0	TGFBR1	100940151	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.810000	0.99221	2.530000	0.85305	0.655000	0.94253	CGT		0.378	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			55	132	1	0	4.96213e-28	0.000147903	1.13302e-26	55	132				
HNRNPR	10236	broad.mit.edu	37	1	23650124	23650124	+	Silent	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23650124T>C	ENST00000374612.1	-	6	723	c.600A>G	c.(598-600)ccA>ccG	p.P200P	HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P|HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000478691.1_Silent_p.P99P|HNRNPR_ENST00000426846.2_Intron	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	200	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P200P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACCGGACAGTGGATCCATCA	0.443																																						ENST00000478691.1																			2	Substitution - coding silent(2)	p.P200P(2)	prostate(2)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(295-297)ccA>ccG		heterogeneous nuclear ribonucleoprotein R							114.0	115.0	114.0					1																	23650124		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23650124T>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.600A>G	1.37:g.23650124T>C						HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P|HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000374612.1_Silent_p.P200P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000426846.2_Intron	p.P99P	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	568	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	200			Asp/Glu-rich (acidic).		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.297A>G	CCDS232.1																																																																																				0.443	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		10	197	0	0	0	0.000442599	0	10	197				
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337																																						ENST00000451381.1																			0																																																			0							g.chr7:62701951_62701952insA																													7.37:g.62701957_62701957dupA														0	55	-									RNA	INS	ENST00000451381.1	37																																																																																						0.337	RP5-905H7.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000343675.1			5	9						5	9	---	---	---	---
RP11-383M4.6	0	broad.mit.edu	37	9	84564423	84564423	+	lincRNA	DEL	T	T	-	rs538696286		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:84564423delT	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							ACTGGGACTATTGAAGCTCAG	0.438																																						ENST00000585776.1																			0																																																			0							g.chr9:84564423delT																													9.37:g.84564423delT						SPATA31D3_ENST00000334208.4_RNA								0	942	-									RNA	DEL	ENST00000585776.1	37																																																																																						0.438	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			2	4						2	4	---	---	---	---
BTBD11	121551	broad.mit.edu	37	12	108008872	108008879	+	Frame_Shift_Del	DEL	ACCCCGAG	ACCCCGAG	-	rs76689600|rs200353697|rs369956661		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:108008872_108008879delACCCCGAG	ENST00000280758.5	+	7	2462_2469	c.1934_1941delACCCCGAG	c.(1933-1941)caccccgagfs	p.HPE645fs	BTBD11_ENST00000490090.2_Frame_Shift_Del_p.HPE645fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.HPE645fs|BTBD11_ENST00000357167.4_Frame_Shift_Del_p.HPE182fs|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	645						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATCCGTCCACCCCGAGACCCGCCATT	0.404																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1933-1941)cfs		BTB (POZ) domain containing 11																																				SO:0001589	frameshift_variant	121551					integral to membrane	DNA binding	g.chr12:108008872_108008879delACCCCGAG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1934_1941delACCCCGAG	12.37:g.108008872_108008879delACCCCGAG	ENSP00000280758:p.His645fs					RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Frame_Shift_Del_p.HPE182fs|BTBD11_ENST00000490090.2_Frame_Shift_Del_p.HPE645fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.HPE645fs	p.HPE645fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			7	2462_2469	+			645					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Frame_Shift_Del	DEL	ENST00000280758.5	37	c.1934_1941delACCCCGAG	CCDS31893.1																																																																																				0.404	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		11	78						11	78	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226836	88226838	+	lincRNA	DEL	GGG	GGG	-			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:88226836_88226838delGGG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtggtggggatggtggtg	0.596																																						ENST00000568587.1																			0																																																			0							g.chr16:88226836_88226838delGGG																													16.37:g.88226836_88226838delGGG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.596	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			2	4						2	4	---	---	---	---
