#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
MYT1L	23040	broad.mit.edu	37	2	1914018	1914018	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:1914018A>G	ENST00000399161.2	-	13	2558	c.1811T>C	c.(1810-1812)gTg>gCg	p.V604A	MYT1L_ENST00000428368.2_Missense_Mutation_p.V602A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	604					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTACCTGAGCACGCGGTCCGA	0.632																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1810-1812)gTg>gCg		myelin transcription factor 1-like							47.0	56.0	53.0					2																	1914018		2104	4207	6311	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1914018A>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1811T>C	2.37:g.1914018A>G	ENSP00000382114:p.Val604Ala					MYT1L_ENST00000428368.2_Missense_Mutation_p.V602A	p.V604A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	13	2558	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	604					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1811T>C		.	.	.	.	.	.	.	.	.	.	A	26.5	4.742392	0.89573	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.50548	0.74;0.74	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	L	0.42245	1.32	0.80722	D	1	P;D	0.54601	0.956;0.967	P;P	0.55391	0.676;0.775	T	0.43180	-0.9407	10	0.15066	T	0.55	-38.7473	15.3622	0.74487	1.0:0.0:0.0:0.0	.	604;602	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	A	604;550;602	ENSP00000382114:V604A;ENSP00000396103:V602A	ENSP00000295067:V550A	V	-	2	0	MYT1L	1893025	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	8.960000	0.93117	2.101000	0.63845	0.533000	0.62120	GTG		0.632	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		13	23	0	0	0	1	0	13	23				
NPSR1	387129	broad.mit.edu	37	7	34888182	34888182	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:34888182C>A	ENST00000360581.1	+	8	1060	c.932C>A	c.(931-933)gCc>gAc	p.A311D	NPSR1_ENST00000359791.1_Missense_Mutation_p.A311D|NPSR1_ENST00000381539.3_Missense_Mutation_p.A311D|NPSR1_ENST00000381542.1_Missense_Mutation_p.A245D|NPSR1_ENST00000531252.1_Missense_Mutation_p.A300D	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	311						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CGTTTCTATGCCTCTGTGATC	0.498																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(931-933)gCc>gAc		neuropeptide S receptor 1	Halothane(DB01159)						228.0	220.0	223.0					7																	34888182		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34888182C>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.932C>A	7.37:g.34888182C>A	ENSP00000353788:p.Ala311Asp					NPSR1_ENST00000359791.1_Missense_Mutation_p.A311D|NPSR1_ENST00000531252.1_Missense_Mutation_p.A300D|NPSR1_ENST00000381542.1_Missense_Mutation_p.A245D|NPSR1_ENST00000381539.3_Missense_Mutation_p.A311D	p.A311D	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			8	1060	+			311					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.932C>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554616	0.86231	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.62122	0.2402	M	0.74467	2.265	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.984;0.998;0.983;0.984;0.987	T	0.64571	-0.6376	10	0.66056	D	0.02	-28.5659	17.9508	0.89052	0.0:1.0:0.0:0.0	.	245;300;245;311;311;311	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	D	311;245;311;300;311;114	ENSP00000353788:A311D;ENSP00000370953:A245D;ENSP00000352839:A311D;ENSP00000433258:A300D;ENSP00000370950:A311D	ENSP00000334093:A114D	A	+	2	0	NPSR1	34854707	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.284000	0.65627	2.713000	0.92767	0.655000	0.94253	GCC		0.498	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		15	220	1	0	3.27435e-08	1	3.62404e-08	15	220				
PRDM2	7799	broad.mit.edu	37	1	14105561	14105561	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:14105561T>G	ENST00000235372.7	+	8	2127	c.1271T>G	c.(1270-1272)cTa>cGa	p.L424R	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.L424R|PRDM2_ENST00000413440.1_Missense_Mutation_p.L223R|PRDM2_ENST00000343137.4_Missense_Mutation_p.L223R|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCCAAACACTACAGCCGTCA	0.522																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1270-1272)cTa>cGa		PR domain containing 2, with ZNF domain							46.0	46.0	46.0					1																	14105561		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105561T>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1271T>G	1.37:g.14105561T>G	ENSP00000235372:p.Leu424Arg					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L223R|PRDM2_ENST00000311066.5_Missense_Mutation_p.L424R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L223R	p.L424R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2127	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	424					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1271T>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	9.659	1.143641	0.21205	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01685	4.79;4.7;4.69;4.69	5.36	3.0	0.34707	.	0.520307	0.19785	N	0.106132	T	0.04770	0.0129	L	0.59436	1.845	0.09310	N	1	D;B;D;D	0.71674	0.997;0.278;0.99;0.998	P;B;P;P	0.62014	0.791;0.055;0.731;0.897	T	0.37150	-0.9718	10	0.19147	T	0.46	.	6.2337	0.20750	0.1424:0.0785:0.0:0.779	.	424;282;424;424	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	R	424;424;424;223;223	ENSP00000235372:L424R;ENSP00000312352:L424R;ENSP00000411103:L223R;ENSP00000341621:L223R	ENSP00000235372:L424R	L	+	2	0	PRDM2	13978148	0.001000	0.12720	0.001000	0.08648	0.797000	0.45037	0.519000	0.22862	0.330000	0.23485	0.459000	0.35465	CTA		0.522	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		7	55	0	0	0	1	0	7	55				
BTNL3	10917	broad.mit.edu	37	5	180432371	180432371	+	Silent	SNP	G	G	A	rs559284545		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:180432371G>A	ENST00000342868.6	+	8	1084	c.900G>A	c.(898-900)aaG>aaA	p.K300K	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTCACCCGAAGCTCTGCGTTT	0.532																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(898-900)aaG>aaA		butyrophilin-like 3							40.0	46.0	44.0					5																	180432371		2199	4277	6476	SO:0001819	synonymous_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180432371G>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.900G>A	5.37:g.180432371G>A							p.K300K	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1084	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	300			B30.2/SPRY.		Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	c.900G>A	CCDS47358.1																																																																																				0.532	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		25	42	0	0	0	1	0	25	42				
IL10	3586	broad.mit.edu	37	1	206943190	206943190	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:206943190T>C	ENST00000423557.1	-	4	486	c.428A>G	c.(427-429)aAg>aGg	p.K143R	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	143					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AAAGGCATTCTTCACCTGCTC	0.527																																						ENST00000423557.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(427-429)aAg>aGg		interleukin 10							139.0	105.0	117.0					1																	206943190		2203	4300	6503	SO:0001583	missense	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206943190T>C	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.428A>G	1.37:g.206943190T>C	ENSP00000412237:p.Lys143Arg					IL10_ENST00000471071.1_5'UTR	p.K143R	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		4	486	-	Breast(84;0.183)		143						Missense_Mutation	SNP	ENST00000423557.1	37	c.428A>G	CCDS1467.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124395	0.37533	.	.	ENSG00000136634	ENST00000423557	T	0.70399	-0.48	6.08	6.08	0.98989	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.198584	0.53938	D	0.000053	T	0.74558	0.3732	M	0.85710	2.77	0.50632	D	0.999882	B	0.17268	0.021	B	0.22386	0.039	T	0.72984	-0.4125	10	0.56958	D	0.05	-36.462	13.0356	0.58870	0.0:0.0:0.0:1.0	.	143	P22301	IL10_HUMAN	R	143	ENSP00000412237:K143R	ENSP00000412237:K143R	K	-	2	0	IL10	205009813	0.998000	0.40836	0.987000	0.45799	0.126000	0.20510	4.158000	0.58150	2.333000	0.79357	0.533000	0.62120	AAG		0.527	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		41	37	0	0	0	1	0	41	37				
EGFLAM	133584	broad.mit.edu	37	5	38435297	38435297	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:38435297A>G	ENST00000354891.3	+	16	2571	c.2225A>G	c.(2224-2226)tAt>tGt	p.Y742C	EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y508C|EGFLAM_ENST00000397202.2_Missense_Mutation_p.Y108C|EGFLAM_ENST00000322350.5_Missense_Mutation_p.Y742C	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	742	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTCCCCAATTATGATGATGTG	0.453																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2224-2226)tAt>tGt		EGF-like, fibronectin type III and laminin G domains							107.0	106.0	107.0					5																	38435297		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38435297A>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2225A>G	5.37:g.38435297A>G	ENSP00000346964:p.Tyr742Cys					EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y742C|EGFLAM_ENST00000397202.2_Missense_Mutation_p.Y108C|EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y508C	p.Y742C	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			16	2571	+	all_lung(31;0.000385)		742			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2225A>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050485	0.55218	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.79845	-1.13;-1.13;-1.13;-1.31	5.81	5.81	0.92471	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90933	0.7150	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.972	D	0.92138	0.5718	10	0.62326	D	0.03	-13.4699	16.167	0.81768	1.0:0.0:0.0:0.0	.	508;742;742	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	C	742;742;508;108;508	ENSP00000346964:Y742C;ENSP00000313084:Y742C;ENSP00000337607:Y508C;ENSP00000380385:Y108C	ENSP00000313084:Y742C	Y	+	2	0	EGFLAM	38471054	1.000000	0.71417	0.521000	0.27850	0.143000	0.21401	8.576000	0.90770	2.210000	0.71456	0.533000	0.62120	TAT		0.453	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		5	63	0	0	0	1	0	5	63				
NR2E1	7101	broad.mit.edu	37	6	108492701	108492701	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:108492701G>A	ENST00000368986.4	+	2	773	c.65G>A	c.(64-66)cGc>cAc	p.R22H	NR2E1_ENST00000368983.3_Missense_Mutation_p.R59H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	22					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGTGGCGACCGCAGCTCGGGG	0.572																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(64-66)cGc>cAc		nuclear receptor subfamily 2, group E, member 1							127.0	136.0	133.0					6																	108492701		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492701G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.65G>A	6.37:g.108492701G>A	ENSP00000357982:p.Arg22His					NR2E1_ENST00000368983.3_Missense_Mutation_p.R59H	p.R22H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	773	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	22					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.65G>A	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452607	0.63290	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.97328	-4.34;-4.34	5.32	5.32	0.75619	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	L	0.35644	1.08	0.80722	D	1	B	0.27286	0.174	B	0.28139	0.086	D	0.90430	0.4423	10	0.28530	T	0.3	.	18.607	0.91270	0.0:0.0:1.0:0.0	.	22	Q9Y466	NR2E1_HUMAN	H	22;59	ENSP00000357982:R22H;ENSP00000357979:R59H	ENSP00000357979:R59H	R	+	2	0	NR2E1	108599394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.509000	0.81698	2.501000	0.84356	0.655000	0.94253	CGC		0.572	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			5	117	0	0	0	1	0	5	117				
SLC6A15	55117	broad.mit.edu	37	12	85257323	85257323	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:85257323A>T	ENST00000266682.5	-	11	2254	c.1713T>A	c.(1711-1713)taT>taA	p.Y571*	SLC6A15_ENST00000309283.7_Nonsense_Mutation_p.Y279*|SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.Y464*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	571					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTTCCACATATAGTAGTAAT	0.323																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1711-1713)taT>taA		solute carrier family 6 (neutral amino acid transporter), member 15							58.0	63.0	61.0					12																	85257323		2203	4292	6495	SO:0001587	stop_gained	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85257323A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1713T>A	12.37:g.85257323A>T	ENSP00000266682:p.Tyr571*					SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.Y464*|SLC6A15_ENST00000309283.7_Nonsense_Mutation_p.Y279*	p.Y571*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			11	2254	-			571					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Nonsense_Mutation	SNP	ENST00000266682.5	37	c.1713T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816272	0.90790	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000552192;ENST00000548267	.	.	.	5.71	-2.02	0.07388	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	12.3145	0.54948	0.4716:0.0:0.5284:0.0	.	.	.	.	X	279;571;464;49	.	ENSP00000266682:Y571X	Y	-	3	2	SLC6A15	83781454	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	1.696000	0.37773	-0.274000	0.09232	0.477000	0.44152	TAT		0.323	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		53	82	0	0	0	1	0	53	82				
SLC6A3	6531	broad.mit.edu	37	5	1414807	1414807	+	Splice_Site	SNP	G	G	A	rs145114326	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:1414807G>A	ENST00000270349.9	-	8	1282	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	SLC6A3_ENST00000453492.2_Splice_Site_p.D385D	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	385					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGGGCTCACCGTCCTTGGCCA	0.607													G|||	3	0.000599042	0.0008	0.0	5008	,	,		12831	0.002		0.0	False		,,,				2504	0.0					ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e8+1		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	G		0,4402		0,0,2201	67.0	51.0	56.0		1155	-5.0	0.9	5	dbSNP_134	56	6,8594	5.0+/-18.6	0,6,4294	yes	coding-synonymous-near-splice	SLC6A3	NM_001044.4		0,6,6495	AA,AG,GG		0.0698,0.0,0.0461		385/621	1414807	6,12996	2201	4300	6501	SO:0001630	splice_region_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1414807G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1156+1C>T	5.37:g.1414807G>A						SLC6A3_ENST00000453492.2_Splice_Site_p.D385_splice	p.D385_splice	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		8	1282	-			385					A2RUN4|Q14996	Splice_Site	SNP	ENST00000270349.9	37	c.1156_splice	CCDS3863.1																																																																																				0.607	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	Silent	8	16	0	0	0	1	0	8	16				
THSD7B	80731	broad.mit.edu	37	2	137852651	137852651	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:137852651G>T	ENST00000409968.1	+	4	1337	c.1159G>T	c.(1159-1161)Gcc>Tcc	p.A387S	THSD7B_ENST00000413152.2_Missense_Mutation_p.A356S|THSD7B_ENST00000543459.1_Missense_Mutation_p.A246S|THSD7B_ENST00000272643.3_Missense_Mutation_p.A387S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	387	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAGAAAGAGGCCTGCATTGT	0.468																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1159-1161)Gcc>Tcc		thrombospondin, type I, domain containing 7B							84.0	95.0	91.0					2																	137852651		1970	4161	6131	SO:0001583	missense	80731							g.chr2:137852651G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1159G>T	2.37:g.137852651G>T	ENSP00000387145:p.Ala387Ser					THSD7B_ENST00000272643.3_Missense_Mutation_p.A387S|THSD7B_ENST00000543459.1_Missense_Mutation_p.A246S|THSD7B_ENST00000413152.2_Missense_Mutation_p.A356S	p.A387S						BRCA - Breast invasive adenocarcinoma(221;0.19)	4	1337	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1159G>T		.	.	.	.	.	.	.	.	.	.	G	18.95	3.730821	0.69074	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.84	4.96	0.65561	.	0.046742	0.85682	D	0.000000	T	0.58538	0.2129	L	0.41079	1.255	0.50467	D	0.999875	D;D	0.53462	0.96;0.959	D;P	0.65573	0.936;0.786	T	0.53301	-0.8458	10	0.08837	T	0.75	.	13.7189	0.62714	0.0755:0.0:0.9245:0.0	.	387;356	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	387;387;356;246	ENSP00000387145:A387S;ENSP00000272643:A387S;ENSP00000413841:A356S;ENSP00000443370:A246S	ENSP00000272643:A387S	A	+	1	0	THSD7B	137569121	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	7.520000	0.81821	1.446000	0.47643	0.650000	0.86243	GCC		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		4	34	1	0	1	1	1	4	34				
SPATS2L	26010	broad.mit.edu	37	2	201303981	201303981	+	Silent	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:201303981A>T	ENST00000358677.5	+	7	829	c.582A>T	c.(580-582)acA>acT	p.T194T	SPATS2L_ENST00000451764.2_Silent_p.T194T|SPATS2L_ENST00000409385.1_Silent_p.T134T|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409988.3_Silent_p.T194T|SPATS2L_ENST00000409755.3_Silent_p.T224T|SPATS2L_ENST00000409140.3_Silent_p.T194T|SPATS2L_ENST00000409151.1_Silent_p.T202T|SPATS2L_ENST00000409718.1_Silent_p.T194T	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	194						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AGGCAAAAACATCTCCTGTTA	0.443																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(580-582)acA>acT		spermatogenesis associated, serine-rich 2-like							110.0	104.0	106.0					2																	201303981		1902	4116	6018	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201303981A>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.582A>T	2.37:g.201303981A>T						SPATS2L_ENST00000409755.3_Silent_p.T224T|SPATS2L_ENST00000358677.4_Silent_p.T194T|SPATS2L_ENST00000409718.1_Silent_p.T194T|SPATS2L_ENST00000409385.1_Silent_p.T134T|SPATS2L_ENST00000409140.3_Silent_p.T194T|SPATS2L_ENST00000409151.1_Silent_p.T202T|SPATS2L_ENST00000451764.2_Silent_p.T194T|SPATS2L_ENST00000360760.5_Intron	p.T194T	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			7	1105	+			194					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.582A>T	CCDS46483.1																																																																																				0.443	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		16	34	0	0	0	1	0	16	34				
PIK3CD	5293	broad.mit.edu	37	1	9783245	9783245	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:9783245G>A	ENST00000377346.4	+	20	2684	c.2489G>A	c.(2488-2490)cGt>cAt	p.R830H	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R854H|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R854H	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	830	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GTGGTACTCCGTTCAGACACC	0.587																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2560-2562)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							143.0	139.0	140.0					1																	9783245		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9783245G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2489G>A	1.37:g.9783245G>A	ENSP00000366563:p.Arg830His					PIK3CD_ENST00000377346.4_Missense_Mutation_p.R830H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R854H	p.R854H			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	20	2769	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	830			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.2561G>A	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	6.345	0.431806	0.12045	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	D;D;D	0.81499	-1.5;-1.5;-1.5	4.94	-0.276	0.12902	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.238712	0.42548	N	0.000697	T	0.46964	0.1420	N	0.01352	-0.895	0.38516	D	0.948597	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.002	T	0.08472	-1.0720	10	0.27785	T	0.31	-24.3365	4.6747	0.12706	0.4306:0.298:0.2714:0.0	.	829;854;830	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	H	854;830;854;854	ENSP00000446444:R854H;ENSP00000366563:R830H;ENSP00000354410:R854H	ENSP00000353766:R854H	R	+	2	0	PIK3CD	9705832	0.297000	0.24408	0.011000	0.14972	0.684000	0.39900	0.927000	0.28818	-0.080000	0.12685	0.462000	0.41574	CGT		0.587	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		40	97	0	0	0	1	0	40	97				
GABBR2	9568	broad.mit.edu	37	9	101056066	101056066	+	Splice_Site	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:101056066C>A	ENST00000259455.2	-	18	3120		c.e18+1			NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2						G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGGTACTTACTGTTCTGGAG	0.378																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.e18+1		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						200.0	194.0	196.0					9																	101056066		2203	4300	6503	SO:0001630	splice_region_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101056066C>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2660+1G>T	9.37:g.101056066C>A								NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			18	3120	-		Acute lymphoblastic leukemia(62;0.0527)						O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Splice_Site	SNP	ENST00000259455.2	37		CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571526	0.86542	.	.	ENSG00000136928	ENST00000259455	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1967	0.65675	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABBR2	100095887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.156000	0.77453	2.728000	0.93425	0.650000	0.86243	.		0.378	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		Intron	34	121	1	0	4.62619e-21	1	5.43696e-21	34	121				
TRIM22	10346	broad.mit.edu	37	11	5729464	5729464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5729464C>T	ENST00000379965.3	+	6	1112	c.835C>T	c.(835-837)Cga>Tga	p.R279*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	279					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAGTGTATTCCGAGTACCAGA	0.418																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(835-837)Cga>Tga		tripartite motif containing 22							125.0	117.0	120.0					11																	5729464		1883	4133	6016	SO:0001587	stop_gained	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5729464C>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.835C>T	11.37:g.5729464C>T	ENSP00000369299:p.Arg279*					TRIM5_ENST00000380027.1_Intron	p.R279*	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	6	1112	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	279					Q05CQ0|Q15521	Nonsense_Mutation	SNP	ENST00000379965.3	37	c.835C>T	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645579	0.47258	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000455293;ENST00000450670	.	.	.	4.06	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7882	0.52055	0.3135:0.6865:0.0:0.0	.	.	.	.	X	279;90;247;201;29	.	ENSP00000369299:R279X	R	+	1	2	TRIM22	5686040	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.378000	0.07446	0.106000	0.17784	-2.051000	0.00406	CGA		0.418	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		6	33	0	0	0	1	0	6	33				
CPED1	79974	broad.mit.edu	37	7	120740100	120740100	+	Silent	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:120740100G>T	ENST00000310396.5	+	7	1337	c.870G>T	c.(868-870)tcG>tcT	p.S290S	CPED1_ENST00000450913.2_Silent_p.S290S|CPED1_ENST00000423795.1_Silent_p.S70S	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	290						endoplasmic reticulum (GO:0005783)		p.S290S(1)									TCATTCATTCGACGGGCACAG	0.423																																						ENST00000310396.5																			1	Substitution - coding silent(1)	p.S290S(1)	urinary_tract(1)								c.(868-870)tcG>tcT		cadherin-like and PC-esterase domain containing 1							150.0	129.0	136.0					7																	120740100		2203	4300	6503	SO:0001819	synonymous_variant	79974							g.chr7:120740100G>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.870G>T	7.37:g.120740100G>T						CPED1_ENST00000450913.2_Silent_p.S290S|CPED1_ENST00000423795.1_Silent_p.S70S	p.S290S	NM_024913.4	NP_079189.4					7	1337	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.870G>T	CCDS34739.1																																																																																				0.423	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		21	68	1	0	3.62473e-10	1	4.09128e-10	21	68				
DIEXF	27042	broad.mit.edu	37	1	210010488	210010488	+	Missense_Mutation	SNP	C	C	T	rs61740244	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:210010488C>T	ENST00000491415.2	+	6	1051	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	332					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CAATAGCAGACGCCGAAGCCA	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		18618	0.0		0.0	False		,,,				2504	0.002					ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(994-996)Cgc>Tgc		digestive organ expansion factor homolog (zebrafish)		C	CYS/ARG	0,4406		0,0,2203	51.0	44.0	46.0		994	3.0	0.8	1	dbSNP_129	46	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DIEXF	NM_014388.6	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	332/757	210010488	2,13004	2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210010488C>T	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.994C>T	1.37:g.210010488C>T	ENSP00000419005:p.Arg332Cys						p.R332C	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			6	1051	+			332					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.994C>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902111	0.33628	0.0	2.33E-4	ENSG00000117597	ENST00000491415	T	0.44881	0.91	5.91	3.03	0.35002	.	0.461717	0.25552	N	0.029898	T	0.22360	0.0539	N	0.14661	0.345	0.22541	N	0.99901	B	0.24186	0.099	B	0.17433	0.018	T	0.13845	-1.0494	10	0.56958	D	0.05	-2.9478	5.7461	0.18120	0.2247:0.5833:0.0:0.1921	rs61740244	332	Q68CQ4	DIEXF_HUMAN	C	332	ENSP00000419005:R332C	ENSP00000419005:R332C	R	+	1	0	DIEXF	208077111	0.020000	0.18652	0.779000	0.31741	0.979000	0.70002	0.860000	0.27871	0.846000	0.35142	0.655000	0.94253	CGC		0.512	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		18	22	0	0	0	1	0	18	22				
ITGA2	3673	broad.mit.edu	37	5	52355772	52355772	+	Silent	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:52355772T>C	ENST00000296585.5	+	11	1385	c.1242T>C	c.(1240-1242)caT>caC	p.H414H		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	414					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGACATCTCATGGCCATTTGA	0.398																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1240-1242)caT>caC		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							91.0	86.0	88.0					5																	52355772		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52355772T>C		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1242T>C	5.37:g.52355772T>C							p.H414H	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			11	1385	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	414					Q14595	Silent	SNP	ENST00000296585.5	37	c.1242T>C	CCDS3957.1																																																																																				0.398	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		27	40	0	0	0	1	0	27	40				
TACC1	6867	broad.mit.edu	37	8	38646271	38646271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:38646271C>T	ENST00000317827.4	+	2	590	c.211C>T	c.(211-213)Cga>Tga	p.R71*	TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Nonsense_Mutation_p.R87*|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000518415.1_Nonsense_Mutation_p.R26*|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000520340.1_Nonsense_Mutation_p.R35*|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000379931.3_Nonsense_Mutation_p.R71*	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	71					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AACCCCGATCCGATCACCTTT	0.463																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(211-213)Cga>Tga		transforming, acidic coiled-coil containing protein 1							69.0	67.0	68.0					8																	38646271		2203	4300	6503	SO:0001587	stop_gained	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38646271C>T	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.211C>T	8.37:g.38646271C>T	ENSP00000321703:p.Arg71*					TACC1_ENST00000330691.6_Intron|TACC1_ENST00000317827.4_Nonsense_Mutation_p.R71*|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Nonsense_Mutation_p.R26*|TACC1_ENST00000443286.2_Nonsense_Mutation_p.R87*|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Nonsense_Mutation_p.R35*	p.R71*			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		2	590	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	71					B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Nonsense_Mutation	SNP	ENST00000317827.4	37	c.211C>T	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	37	6.432405	0.97564	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000524354;ENST00000317827;ENST00000379931	.	.	.	5.41	1.79	0.24919	.	0.327932	0.27302	N	0.019982	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-3.0809	4.2246	0.10574	0.2829:0.5121:0.0861:0.1189	.	.	.	.	X	87;26;43;71;71;71	.	ENSP00000321703:R71X	R	+	1	2	TACC1	38765428	0.958000	0.32768	0.891000	0.34965	0.340000	0.28889	0.793000	0.26944	0.356000	0.24157	-0.397000	0.06425	CGA		0.463	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		8	21	0	0	0	1	0	8	21				
GPRC6A	222545	broad.mit.edu	37	6	117130560	117130560	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:117130560T>C	ENST00000310357.3	-	2	436	c.415A>G	c.(415-417)Aga>Gga	p.R139G	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R139G|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R139G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	139					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCCTTAACTCTTGGCATGTAG	0.448																																						ENST00000310357.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(415-417)Aga>Gga		G protein-coupled receptor, family C, group 6, member A							96.0	91.0	93.0					6																	117130560		2203	4300	6503	SO:0001583	missense	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117130560T>C	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.415A>G	6.37:g.117130560T>C	ENSP00000309493:p.Arg139Gly					GPRC6A_ENST00000530250.1_Missense_Mutation_p.R139G|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R139G	p.R139G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	2	436	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	139					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.415A>G	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.563195	0.65538	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.84370	-1.84;-1.84;-1.84	4.86	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.062950	0.64402	D	0.000012	D	0.86230	0.5883	L	0.55834	1.745	0.27140	N	0.961687	D;D;D	0.76494	0.98;0.999;0.97	P;D;P	0.71656	0.795;0.974;0.872	T	0.80549	-0.1333	10	0.41790	T	0.15	.	14.62	0.68576	0.0:0.0:0.0:1.0	.	139;139;139	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	G	139	ENSP00000309493:R139G;ENSP00000357537:R139G;ENSP00000433465:R139G	ENSP00000309493:R139G	R	-	1	2	GPRC6A	117237253	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.552000	0.60747	2.047000	0.60756	0.477000	0.44152	AGA		0.448	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			6	72	0	0	0	1	0	6	72				
FCGR2A	2212	broad.mit.edu	37	1	161479832	161479832	+	Missense_Mutation	SNP	T	T	A	rs141094947	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:161479832T>A	ENST00000271450.6	+	4	625	c.587T>A	c.(586-588)tTc>tAc	p.F196Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	196	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACACGCTGTTCTCATCCAAG	0.527													T|||	16	0.00319489	0.0076	0.0014	5008	,	,		20399	0.0		0.001	False		,,,				2504	0.0041					ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(586-588)tTc>tAc		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						112.0	95.0	101.0					1																	161479832		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479832T>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.587T>A	1.37:g.161479832T>A	ENSP00000271450:p.Phe196Tyr					FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y|FCGR2A_ENST00000467525.1_3'UTR	p.F196Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	625	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		196			Ig-like C2-type 2.		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.587T>A	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.565357	0.00903	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.12255	2.7;2.7	2.66	0.29	0.15728	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	17.507600	0.00166	N	0.000000	T	0.00815	0.0027	N	0.01257	-0.925	0.22142	N	0.999332	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34675	-0.9819	9	0.02654	T	1	.	2.2063	0.03936	0.5991:0.0:0.1472:0.2537	.	196;195	P12318;P12318-2	FCG2A_HUMAN;.	Y	195;196	ENSP00000356949:F195Y;ENSP00000271450:F196Y	ENSP00000271450:F196Y	F	+	2	0	FCGR2A	159746456	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.448000	0.21726	0.033000	0.15463	-0.390000	0.06520	TTC		0.527	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		4	73	0	0	0	1	0	4	73				
CSN3	1448	broad.mit.edu	37	4	71115134	71115134	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:71115134C>A	ENST00000304954.3	+	4	593	c.507C>A	c.(505-507)acC>acA	p.T169T		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCACGAGCACCCCTGAGACAA	0.448																																						ENST00000304954.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(505-507)acC>acA		casein kappa							66.0	65.0	66.0					4																	71115134		2203	4300	6503	SO:0001819	synonymous_variant	1448					extracellular region	protein binding	g.chr4:71115134C>A	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.507C>A	4.37:g.71115134C>A							p.T169T	NM_005212.2	NP_005203.2	P07498	CASK_HUMAN			4	593	+			169					B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000304954.3	37	c.507C>A	CCDS3538.1																																																																																				0.448	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		13	23	1	0	0.00244969	1	0.00263458	13	23				
IQSEC2	23096	broad.mit.edu	37	X	53277942	53277942	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:53277942A>G	ENST00000375368.5	-	5	2590	c.2390T>C	c.(2389-2391)cTa>cCa	p.L797P	IQSEC2_ENST00000375365.2_Missense_Mutation_p.L602P|IQSEC2_ENST00000396435.3_Missense_Mutation_p.L807P			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	797	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCGGTTCCCTAGGAATTCCCC	0.592																																						ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(2419-2421)cTa>cCa		IQ motif and Sec7 domain 2							96.0	72.0	80.0					X																	53277942		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53277942A>G	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2390T>C	X.37:g.53277942A>G	ENSP00000364517:p.Leu797Pro					IQSEC2_ENST00000375365.2_Missense_Mutation_p.L602P|IQSEC2_ENST00000375368.5_Missense_Mutation_p.L797P	p.L807P	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			6	2620	-			797			SEC7.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.2420T>C		.	.	.	.	.	.	.	.	.	.	A	19.43	3.826740	0.71143	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	D;D;D	0.88201	-2.35;-2.35;-2.35	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	D	0.96842	0.8969	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98130	1.0430	10	0.87932	D	0	.	13.7602	0.62961	1.0:0.0:0.0:0.0	.	807;602	Q5JU85-2;Q5JU85-3	.;.	P	807;797;602	ENSP00000379712:L807P;ENSP00000364517:L797P;ENSP00000364514:L602P	ENSP00000364514:L602P	L	-	2	0	IQSEC2	53294667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.893000	0.54813	0.430000	0.28490	CTA		0.592	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		23	39	0	0	0	1	0	23	39				
HSF5	124535	broad.mit.edu	37	17	56565486	56565486	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:56565486C>A	ENST00000323777.3	-	1	259	c.150G>T	c.(148-150)ctG>ctT	p.L50L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	50					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					gcgggcTGAGCAGCTCGGCCT	0.726																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(148-150)ctG>ctT		heat shock transcription factor family member 5							7.0	9.0	8.0					17																	56565486		1891	3798	5689	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565486C>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.150G>T	17.37:g.56565486C>A							p.L50L	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			1	259	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		50					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.150G>T	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	C	2.226	-0.377287	0.05000	.	.	ENSG00000176160	ENST00000412540	.	.	.	3.85	2.84	0.33178	.	.	.	.	.	T	0.63896	0.2550	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63010	-0.6732	5	0.40728	T	0.16	.	12.1634	0.54117	0.0:0.8253:0.1747:0.0	.	.	.	.	S	72	.	ENSP00000396453:A72S	A	-	1	0	HSF5	53920485	0.997000	0.39634	1.000000	0.80357	0.248000	0.25809	0.239000	0.18023	0.921000	0.36994	0.313000	0.20887	GCT		0.726	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		7	12	1	0	0.00307968	1	0.00328115	7	12				
CORIN	10699	broad.mit.edu	37	4	47605646	47605646	+	Silent	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:47605646G>A	ENST00000273857.4	-	20	2579	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	CORIN_ENST00000508498.1_Silent_p.I721I|CORIN_ENST00000502252.1_Silent_p.I793I|CORIN_ENST00000505909.1_Silent_p.I823I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	860	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTAGATTGTTGATGCCAAGCA	0.428																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2578-2580)atC>atT		corin, serine peptidase							136.0	119.0	125.0					4																	47605646		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47605646G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2580C>T	4.37:g.47605646G>A						CORIN_ENST00000505909.1_Silent_p.I823I|CORIN_ENST00000508498.1_Silent_p.I721I|CORIN_ENST00000502252.1_Silent_p.I793I	p.I860I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			20	2579	-			860			Peptidase S1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.2580C>T	CCDS3477.1																																																																																				0.428	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			14	75	0	0	0	1	0	14	75				
BCKDHB	594	broad.mit.edu	37	6	81053471	81053471	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:81053471C>G	ENST00000320393.6	+	10	1176	c.1129C>G	c.(1129-1131)Cca>Gca	p.P377A	BCKDHB_ENST00000356489.5_Missense_Mutation_p.P377A|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	377					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTCTACATCCCAGACAAATG	0.408																																						ENST00000320393.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(1129-1131)Cca>Gca		branched chain keto acid dehydrogenase E1, beta polypeptide							147.0	138.0	141.0					6																	81053471		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:81053471C>G	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.1129C>G	6.37:g.81053471C>G	ENSP00000318351:p.Pro377Ala					BCKDHB_ENST00000356489.5_Missense_Mutation_p.P377A|BCKDHB_ENST00000545529.1_3'UTR	p.P377A	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	10	1176	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	377					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.1129C>G	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776034	0.90195	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.94613	-3.47;-3.47	5.96	5.96	0.96718	Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98425	1.0579	10	0.72032	D	0.01	-4.9941	19.4074	0.94653	0.0:1.0:0.0:0.0	.	377	P21953	ODBB_HUMAN	A	377;377;307	ENSP00000318351:P377A;ENSP00000348880:P377A	ENSP00000318351:P377A	P	+	1	0	BCKDHB	81110190	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.374000	0.79633	2.831000	0.97527	0.650000	0.86243	CCA		0.408	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		19	76	0	0	0	1	0	19	76				
IL6R	3570	broad.mit.edu	37	1	154422442	154422442	+	Missense_Mutation	SNP	C	C	T	rs373575595		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:154422442C>T	ENST00000368485.3	+	8	1489	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	IL6R_ENST00000344086.4_Missense_Mutation_p.A351V|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	351					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TCTGCAAATGCGACAAGCCTC	0.428																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.(1051-1053)gCg>gTg		interleukin 6 receptor		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	120.0	121.0	121.0		1052,1052	2.9	0.0	1		121	0,8600		0,0,4300	no	missense,missense	IL6R	NM_181359.2,NM_000565.3	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	351/366,351/469	154422442	1,13005	2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154422442C>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1052C>T	1.37:g.154422442C>T	ENSP00000357470:p.Ala351Val					IL6R_ENST00000344086.4_Missense_Mutation_p.A351V|IL6R_ENST00000507256.1_3'UTR	p.A351V	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	1489	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		351					A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.1052C>T	CCDS1067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.61|11.61	1.689050|1.689050	0.29962|0.29962	2.27E-4|2.27E-4	0.0|0.0	ENSG00000160712|ENSG00000160712	ENST00000368485;ENST00000344086|ENST00000476006;ENST00000515190	T;T|.	0.25749|.	2.24;1.78|.	3.82|3.82	2.91|2.91	0.33838|0.33838	.|.	3.557750|.	0.00604|.	N|.	0.000388|.	T|.	0.16685|.	0.0401|.	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	B;B|.	0.15141|.	0.012;0.01|.	B;B|.	0.10450|.	0.005;0.002|.	T|.	0.14980|.	-1.0453|.	10|.	0.39692|.	T|.	0.17|.	-0.0894|-0.0894	7.6249|7.6249	0.28206|0.28206	0.0:0.8854:0.0:0.1146|0.0:0.8854:0.0:0.1146	.|.	351;351|.	P08887-2;P08887|.	.;IL6RA_HUMAN|.	V|X	351|290;154	ENSP00000357470:A351V;ENSP00000340589:A351V|.	ENSP00000340589:A351V|.	A|R	+|+	2|1	0|2	IL6R|IL6R	152689066|152689066	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.307000|0.307000	0.27823|0.27823	0.452000|0.452000	0.21795|0.21795	1.197000|1.197000	0.43143|0.43143	-0.244000|-0.244000	0.11960|0.11960	GCG|CGA		0.428	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		7	68	0	0	0	1	0	7	68				
ACSM5	54988	broad.mit.edu	37	16	20448432	20448432	+	Missense_Mutation	SNP	G	G	A	rs369151501		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:20448432G>A	ENST00000331849.4	+	11	1514	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	456					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R456Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACAGGGGACCGAGCTCGCATG	0.483																																						ENST00000331849.4																			1	Substitution - Missense(1)	p.R456Q(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1366-1368)cGa>cAa		acyl-CoA synthetase medium-chain family member 5		G	GLN/ARG	0,4406		0,0,2203	174.0	161.0	165.0		1367	3.2	1.0	16		165	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSM5	NM_017888.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	456/580	20448432	1,13005	2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448432G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1367G>A	16.37:g.20448432G>A	ENSP00000327916:p.Arg456Gln						p.R456Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			11	1514	+			456					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1367G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516257	0.64634	0.0	1.16E-4	ENSG00000183549	ENST00000331849	T	0.41758	0.99	5.15	3.19	0.36642	AMP-dependent synthetase/ligase (1);	0.274583	0.25509	N	0.030197	T	0.36771	0.0979	L	0.61387	1.9	0.32960	D	0.52096	P	0.48589	0.912	B	0.37508	0.252	T	0.55704	-0.8099	10	0.62326	D	0.03	-4.7894	10.8795	0.46929	0.156:0.0:0.844:0.0	.	456	Q6NUN0	ACSM5_HUMAN	Q	456	ENSP00000327916:R456Q	ENSP00000327916:R456Q	R	+	2	0	ACSM5	20355933	1.000000	0.71417	0.966000	0.40874	0.950000	0.60333	4.238000	0.58688	0.682000	0.31407	0.650000	0.86243	CGA		0.483	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		8	131	0	0	0	1	0	8	131				
ZNF816	125893	broad.mit.edu	37	19	53454252	53454252	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:53454252C>T	ENST00000357666.4	-	5	1076	c.776G>A	c.(775-777)tGt>tAt	p.C259Y	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.C259Y|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	259					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACATACATCACATTTATATTC	0.368																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(775-777)tGt>tAt		zinc finger protein 816							122.0	119.0	120.0					19																	53454252		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454252C>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.776G>A	19.37:g.53454252C>T	ENSP00000350295:p.Cys259Tyr					ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.C259Y|ZNF816_ENST00000434371.2_Intron	p.C259Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	1076	-			259					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.776G>A	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	14.82	2.649867	0.47362	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	D;D	0.85088	-1.94;-1.94	1.75	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91831	0.7415	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91575	0.5274	9	0.66056	D	0.02	.	10.504	0.44823	0.0:1.0:0.0:0.0	.	259	Q0VGE8	ZN816_HUMAN	Y	259	ENSP00000350295:C259Y;ENSP00000403266:C259Y	ENSP00000350295:C259Y	C	-	2	0	ZNF816	58146064	0.422000	0.25473	0.017000	0.16124	0.055000	0.15305	2.346000	0.44027	0.960000	0.38005	0.194000	0.17425	TGT		0.368	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		39	114	0	0	0	1	0	39	114				
ASTL	431705	broad.mit.edu	37	2	96799705	96799705	+	Splice_Site	SNP	G	G	A	rs148110898		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:96799705G>A	ENST00000342380.2	-	4	335	c.336C>T	c.(334-336)taC>taT	p.Y112Y		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTCACTCACCGTACTTGCTGG	0.582																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.e4+1		astacin-like metallo-endopeptidase (M12 family)		G		0,4406		0,0,2203	133.0	88.0	103.0		336	-10.0	0.0	2	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	ASTL	NM_001002036.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		112/432	96799705	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96799705G>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.337+1C>T	2.37:g.96799705G>A							p.Y112_splice	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			4	335	-			112						Splice_Site	SNP	ENST00000342380.2	37	c.337_splice	CCDS33249.1																																																																																				0.582	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		Silent	3	29	0	0	0	1	0	3	29				
MORC1	27136	broad.mit.edu	37	3	108780872	108780872	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:108780872A>C	ENST00000483760.1	-	11	972	c.929T>G	c.(928-930)gTa>gGa	p.V310G	MORC1_ENST00000232603.5_Missense_Mutation_p.V310G					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACACTGGTTTACTTTGATTTG	0.338																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(928-930)gTa>gGa		MORC family CW-type zinc finger 1							213.0	196.0	202.0					3																	108780872		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108780872A>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.929T>G	3.37:g.108780872A>C	ENSP00000417282:p.Val310Gly					MORC1_ENST00000483760.1_Missense_Mutation_p.V310G	p.V310G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			11	1011	-			310						Missense_Mutation	SNP	ENST00000483760.1	37	c.929T>G		.	.	.	.	.	.	.	.	.	.	A	6.764	0.509847	0.12883	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06608	3.28;3.29	5.4	-2.87	0.05700	.	0.627493	0.14203	N	0.334573	T	0.04907	0.0132	L	0.60455	1.87	0.09310	N	0.999996	P;B	0.35077	0.483;0.215	B;B	0.30251	0.113;0.065	T	0.24905	-1.0147	10	0.48119	T	0.1	-0.4657	1.6171	0.02705	0.3973:0.144:0.3198:0.1389	.	310;310	E7ERX1;Q86VD1	.;MORC1_HUMAN	G	310	ENSP00000232603:V310G;ENSP00000417282:V310G	ENSP00000232603:V310G	V	-	2	0	MORC1	110263562	0.290000	0.24343	0.000000	0.03702	0.096000	0.18686	-0.160000	0.10041	-0.641000	0.05487	-0.480000	0.04831	GTA		0.338	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			20	60	0	0	0	1	0	20	60				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	52	0	0	0	1	0	22	52				
SIGLEC5	8778	broad.mit.edu	37	19	52129289	52129289	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:52129289G>A	ENST00000534261.2	-	9	1859	c.1460C>T	c.(1459-1461)aCc>aTc	p.T487I	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T487I|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T487I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T487I|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.T487I			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	487					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACTCACCGAGGTGATGGTACC	0.522																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1459-1461)aCc>aTc		sialic acid binding Ig-like lectin 5							151.0	122.0	132.0					19																	52129289		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52129289G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1460C>T	19.37:g.52129289G>A	ENSP00000473238:p.Thr487Ile					SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T487I|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T487I|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.T487I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T487I	p.T487I			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	8	1598	-		all_neural(266;0.0726)	487						Missense_Mutation	SNP	ENST00000534261.2	37	c.1460C>T	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	5.888	0.347887	0.11126	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.56444	0.46;0.46	3.12	0.829	0.18847	.	.	.	.	.	T	0.31389	0.0795	N	0.08118	0	0.09310	N	0.999996	B	0.34015	0.435	B	0.36289	0.221	T	0.21177	-1.0253	9	0.37606	T	0.19	.	8.9663	0.35879	0.0:0.4511:0.5489:0.0	.	487	O15389	SIGL5_HUMAN	I	487	ENSP00000222107:T487I;ENSP00000415200:T487I	ENSP00000222107:T487I	T	-	2	0	SIGLEC5	56821101	0.399000	0.25287	0.422000	0.26621	0.029000	0.11900	0.314000	0.19432	0.307000	0.22880	0.650000	0.86243	ACC		0.522	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		12	43	0	0	0	1	0	12	43				
APOB	338	broad.mit.edu	37	2	21230915	21230915	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:21230915T>C	ENST00000233242.1	-	26	8952	c.8825A>G	c.(8824-8826)cAt>cGt	p.H2942R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2942					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTGATTCATGTGTTCCCTC	0.438																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8824-8826)cAt>cGt		apolipoprotein B	Atorvastatin(DB01076)						165.0	163.0	164.0					2																	21230915		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230915T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8825A>G	2.37:g.21230915T>C	ENSP00000233242:p.His2942Arg						p.H2942R	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8952	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2942					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8825A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443624	0.43429	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01145	5.27	5.74	4.58	0.56647	.	0.192262	0.36303	N	0.002676	T	0.02342	0.0072	M	0.76574	2.34	0.80722	D	1	B	0.29508	0.246	B	0.28305	0.088	T	0.44406	-0.9330	10	0.72032	D	0.01	.	11.6449	0.51255	0.0:0.0693:0.0:0.9307	.	2942	P04114	APOB_HUMAN	R	2942	ENSP00000233242:H2942R	ENSP00000233242:H2942R	H	-	2	0	APOB	21084420	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	6.246000	0.72405	1.005000	0.39183	0.459000	0.35465	CAT		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			11	134	0	0	0	1	0	11	134				
FLG	2312	broad.mit.edu	37	1	152285646	152285646	+	Silent	SNP	T	T	G	rs575108535	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:152285646T>G	ENST00000368799.1	-	3	1751	c.1716A>C	c.(1714-1716)cgA>cgC	p.R572R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	572	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCATTTCGTGTTTGTC	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1714-1716)cgA>cgC		filaggrin							427.0	401.0	409.0					1																	152285646		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285646T>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1716A>C	1.37:g.152285646T>G						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R572R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1751	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		572			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.1716A>C	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	461	0	0	0	1	0	5	461				
CRACR2A	84766	broad.mit.edu	37	12	3806033	3806033	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:3806033T>C	ENST00000252322.1	-	4	601	c.133A>G	c.(133-135)Acg>Gcg	p.T45A	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.T45A|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.T45A	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		45					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGGCCCGACGTTTGCTCCTGA	0.592																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(133-135)Acg>Gcg		EF-hand calcium binding domain 4B							116.0	80.0	92.0					12																	3806033		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3806033T>C																												ENST00000252322.1:c.133A>G	12.37:g.3806033T>C	ENSP00000252322:p.Thr45Ala					EFCAB4B_ENST00000252322.1_Missense_Mutation_p.T45A|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.T45A	p.T45A	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		4	606	-			45					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.133A>G	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	T	0.325	-0.959499	0.02267	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.60299	0.2;2.65;2.66	5.57	-0.00648	0.14013	.	1.809020	0.02645	N	0.105726	T	0.20820	0.0501	N	0.00436	-1.5	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27262	-1.0079	10	0.09084	T	0.74	0.8192	4.1924	0.10428	0.1497:0.4772:0.0:0.3731	.	45;45;45	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	A	45	ENSP00000409382:T45A;ENSP00000412496:T45A;ENSP00000252322:T45A	ENSP00000252322:T45A	T	-	1	0	EFCAB4B	3676294	0.022000	0.18835	0.001000	0.08648	0.004000	0.04260	0.340000	0.19892	-0.256000	0.09473	-0.187000	0.12897	ACG		0.592	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			3	61	0	0	0	1	0	3	61				
COL9A1	1297	broad.mit.edu	37	6	71004030	71004030	+	Missense_Mutation	SNP	T	T	A	rs28483918		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:71004030T>A	ENST00000357250.6	-	5	694	c.536A>T	c.(535-537)cAg>cTg	p.Q179L	COL9A1_ENST00000370496.3_Missense_Mutation_p.Q179L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	179	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTATGCCACTGGGAATCAAA	0.418																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(535-537)cAg>cTg		collagen, type IX, alpha 1							130.0	128.0	129.0					6																	71004030		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004030T>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.536A>T	6.37:g.71004030T>A	ENSP00000349790:p.Gln179Leu					COL9A1_ENST00000370496.3_Missense_Mutation_p.Q179L	p.Q179L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			5	694	-			179			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.536A>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484079	0.44147	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.13420	4.22;2.59	5.77	3.4	0.38934	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.317354	0.31709	N	0.007188	T	0.06005	0.0156	L	0.52126	1.63	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.07712	-1.0758	10	0.62326	D	0.03	.	9.9111	0.41406	0.0:0.1398:0.0:0.8602	.	179	P20849	CO9A1_HUMAN	L	179	ENSP00000349790:Q179L;ENSP00000359527:Q179L	ENSP00000349790:Q179L	Q	-	2	0	COL9A1	71060751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.979000	0.49313	0.549000	0.28973	-0.274000	0.10170	CAG		0.418	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			4	115	0	0	0	1	0	4	115				
POGLUT1	56983	broad.mit.edu	37	3	119187879	119187879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:119187879G>A	ENST00000295588.4	+	1	95	c.11G>A	c.(10-12)tGg>tAg	p.W4*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	4					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATGGAGTGGTGGGCTAGCTCG	0.711																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(10-12)tGg>tAg		protein O-glucosyltransferase 1							47.0	40.0	42.0					3																	119187879		2202	4299	6501	SO:0001587	stop_gained	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119187879G>A	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.11G>A	3.37:g.119187879G>A	ENSP00000295588:p.Trp4*						p.W4*	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			1	95	+			4					B2RD13|Q53GJ4|Q8N2T1	Nonsense_Mutation	SNP	ENST00000295588.4	37	c.11G>A	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032275	0.54790	.	.	ENSG00000163389	ENST00000295588	.	.	.	4.58	-1.38	0.09027	.	3.035780	0.00695	N	0.000753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	9.7467	7.973	0.30138	0.0:0.4287:0.2799:0.2914	.	.	.	.	X	4	.	ENSP00000295588:W4X	W	+	2	0	POGLUT1	120670569	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.181000	0.09740	-0.058000	0.13177	0.655000	0.94253	TGG		0.711	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		3	4	0	0	0	1	0	3	4				
OR6S1	341799	broad.mit.edu	37	14	21109228	21109228	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:21109228A>G	ENST00000320704.3	-	1	622	c.623T>C	c.(622-624)cTc>cCc	p.L208P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TACAATGACGAGGGAGGCCAG	0.577																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(622-624)cTc>cCc		olfactory receptor, family 6, subfamily S, member 1							90.0	90.0	90.0					14																	21109228		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109228A>G	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.623T>C	14.37:g.21109228A>G	ENSP00000313110:p.Leu208Pro						p.L208P	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	622	-	all_cancers(95;0.00304)		208					Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.623T>C	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826478	0.50739	.	.	ENSG00000181803	ENST00000320704	T	0.44881	0.91	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.349077	0.20846	N	0.084603	T	0.53883	0.1824	L	0.39245	1.2	0.21220	N	0.999757	D	0.63880	0.993	D	0.65323	0.934	T	0.50849	-0.8779	10	0.87932	D	0	-9.0646	13.7709	0.63023	1.0:0.0:0.0:0.0	.	208	Q8NH40	OR6S1_HUMAN	P	208	ENSP00000313110:L208P	ENSP00000313110:L208P	L	-	2	0	OR6S1	20179068	0.000000	0.05858	0.798000	0.32154	0.926000	0.56050	1.250000	0.32850	2.124000	0.65301	0.533000	0.62120	CTC		0.577	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			4	63	0	0	0	1	0	4	63				
PDCD7	10081	broad.mit.edu	37	15	65425256	65425256	+	Silent	SNP	C	C	T	rs200913681		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425256C>T	ENST00000204549.4	-	1	918	c.864G>A	c.(862-864)aaG>aaA	p.K288K		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	288					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TCACCCGCTTCTTCTCCTCCA	0.637																																						ENST00000204549.4																			0				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(862-864)aaG>aaA		programmed cell death 7							59.0	58.0	58.0					15																	65425256		2202	4299	6501	SO:0001819	synonymous_variant	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65425256C>T	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.864G>A	15.37:g.65425256C>T							p.K288K	NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN			1	918	-			288					Q96AK8|Q9Y6D7	Silent	SNP	ENST00000204549.4	37	c.864G>A	CCDS10201.1																																																																																				0.637	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		4	24	0	0	0	1	0	4	24				
PDCD7	10081	broad.mit.edu	37	15	65425262	65425262	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425262C>G	ENST00000204549.4	-	1	912	c.858G>C	c.(856-858)gaG>gaC	p.E286D		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	286					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCTTCTTCTCCTCCACCTCCT	0.652																																						ENST00000204549.4																			0				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(856-858)gaG>gaC		programmed cell death 7							59.0	59.0	59.0					15																	65425262		2202	4299	6501	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65425262C>G	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.858G>C	15.37:g.65425262C>G	ENSP00000204549:p.Glu286Asp						p.E286D	NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN			1	912	-			286					Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.858G>C	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	c	14.46	2.543480	0.45280	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	3.2	3.2	0.36748	.	0.000000	0.64402	U	0.000001	T	0.52370	0.1730	L	0.46885	1.475	0.44117	D	0.996897	B	0.27229	0.172	B	0.23716	0.048	T	0.50759	-0.8790	9	0.20046	T	0.44	-11.2576	14.5046	0.67743	0.0:1.0:0.0:0.0	.	286	Q8N8D1	PDCD7_HUMAN	D	286;71;80	.	ENSP00000204549:E286D	E	-	3	2	PDCD7	63212315	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.866000	0.27954	1.772000	0.52199	0.306000	0.20318	GAG		0.652	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		4	23	0	0	0	1	0	4	23				
PTGER4	5734	broad.mit.edu	37	5	40681653	40681653	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:40681653C>T	ENST00000302472.3	+	2	1582	c.558C>T	c.(556-558)taC>taT	p.Y186Y	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	186					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CCTACTCCTACATGTACGCGG	0.637																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(556-558)taC>taT		prostaglandin E receptor 4 (subtype EP4)							48.0	43.0	45.0					5																	40681653		2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681653C>T	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.558C>T	5.37:g.40681653C>T						PTGER4_ENST00000514343.1_3'UTR	p.Y186Y	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1582	+			186					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.558C>T	CCDS3930.1																																																																																				0.637	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		4	48	0	0	0	1	0	4	48				
CRISPLD2	83716	broad.mit.edu	37	16	84888389	84888389	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:84888389C>T	ENST00000262424.5	+	6	887	c.663C>T	c.(661-663)tgC>tgT	p.C221C	CRISPLD2_ENST00000567845.1_Silent_p.C221C|CRISPLD2_ENST00000564567.1_Silent_p.C221C|AC025280.1_ENST00000584136.1_RNA|CRISPLD2_ENST00000566431.1_3'UTR	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	221					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCTCTGAGTGCCCACCCAGCT	0.532																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(661-663)tgC>tgT		cysteine-rich secretory protein LCCL domain containing 2							144.0	148.0	146.0					16																	84888389		2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84888389C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.663C>T	16.37:g.84888389C>T						CRISPLD2_ENST00000564567.1_Silent_p.C221C|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Silent_p.C221C	p.C221C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			6	887	+			221					D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.663C>T	CCDS10949.1																																																																																				0.532	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		4	143	0	0	0	1	0	4	143				
BCRP7	100133163	broad.mit.edu	37	22	18846020	18846020	+	3'UTR	SNP	T	T	C	rs1064861	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr22:18846020T>C	ENST00000412938.1	+	0	3378																											TCACTGACGTTGAAGGCTGCC	0.637													t|||	4	0.000798722	0.0	0.0	5008	,	,		35350	0.001		0.0	False		,,,				2504	0.0031					ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846020T>C																												ENST00000412938.1:c.*3375T>C	22.37:g.18846020T>C														0	3378	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.637	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	37	0	0	0	1	0	4	37				
BAGE2	85319	broad.mit.edu	37	21	11039316	11039316	+	RNA	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr21:11039316C>A	ENST00000470054.1	-	0	887							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCTGTCACTTCCATTTTA	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039316C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039316C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	887	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	330	1	0	2.74318e-10	1	3.12722e-10	7	330				
ZNF780B	163131	broad.mit.edu	37	19	40541025	40541025	+	Missense_Mutation	SNP	C	C	T	rs369018278		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:40541025C>T	ENST00000434248.1	-	5	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	581					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.G581R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTCTTTCCGGTATGAATA	0.388																																						ENST00000434248.1																			1	Substitution - Missense(1)	p.G581R(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1741-1743)Gga>Aga		zinc finger protein 780B		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	107.0	114.0	111.0		1741	1.5	0.0	19		111	0,8600		0,0,4300	no	missense	ZNF780B	NM_001005851.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	581/834	40541025	1,13005	2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541025C>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1741G>A	19.37:g.40541025C>T	ENSP00000391641:p.Gly581Arg					ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	p.G581R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	1806	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		581					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1741G>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970459	0.74246	2.27E-4	0.0	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.26223	1.75;1.75	2.56	1.45	0.22620	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43277	0.1240	M	0.69248	2.105	0.31143	N	0.706402	D	0.89917	1.0	D	0.97110	1.0	T	0.42582	-0.9443	9	0.56958	D	0.05	.	6.4082	0.21676	0.0:0.8247:0.0:0.1753	.	581	Q9Y6R6	Z780B_HUMAN	R	581;433	ENSP00000391641:G581R;ENSP00000221355:G433R	ENSP00000221355:G433R	G	-	1	0	ZNF780B	45232865	0.000000	0.05858	0.017000	0.16124	0.602000	0.36980	0.958000	0.29227	0.214000	0.20742	0.462000	0.41574	GGA		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		4	144	0	0	0	1	0	4	144				
ITIH6	347365	broad.mit.edu	37	X	54783821	54783821	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:54783821G>C	ENST00000218436.6	-	8	2715	c.2686C>G	c.(2686-2688)Cca>Gca	p.P896A		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	896	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TCAGGAAGTGGGGGCCTTGGT	0.522																																						ENST00000218436.6																			0											c.(2686-2688)Cca>Gca		inter-alpha-trypsin inhibitor heavy chain family, member 6							100.0	89.0	93.0					X																	54783821		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783821G>C	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2686C>G	X.37:g.54783821G>C	ENSP00000218436:p.Pro896Ala						p.P896A	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2715	-			896			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2686C>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	8.390	0.839570	0.16891	.	.	ENSG00000102313	ENST00000218436	T	0.02258	4.37	3.78	1.92	0.25849	.	5.150550	0.00751	U	0.001064	T	0.02156	0.0067	N	0.19112	0.55	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.42172	-0.9467	10	0.30854	T	0.27	.	5.0182	0.14347	0.4075:0.0:0.5925:0.0	.	896	Q6UXX5	ITH5L_HUMAN	A	896	ENSP00000218436:P896A	ENSP00000218436:P896A	P	-	1	0	ITIH5L	54800546	0.045000	0.20229	0.002000	0.10522	0.050000	0.14768	0.379000	0.20585	0.551000	0.29008	0.506000	0.49869	CCA		0.522	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		20	69	0	0	0	1	0	20	69				
GRAMD1A	57655	broad.mit.edu	37	19	35502430	35502430	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:35502430G>A	ENST00000317991.5	+	7	770	c.578G>A	c.(577-579)cGc>cAc	p.R193H	GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R280H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R186H|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	193						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCATCTTCCGCCTCTGGCAG	0.617																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(838-840)cGc>cAc		GRAM domain containing 1A							79.0	84.0	83.0					19																	35502430		1932	4119	6051	SO:0001583	missense	57655					integral to membrane		g.chr19:35502430G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.578G>A	19.37:g.35502430G>A	ENSP00000441032:p.Arg193His					GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R193H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R186H	p.R280H			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		8	910	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		193					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.839G>A	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072498	0.93950	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.27557	1.66;1.67	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.65677	2.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.996;0.994;0.996;0.945	T	0.57774	-0.7753	10	0.87932	D	0	.	14.7684	0.69657	0.0:0.0:1.0:0.0	.	193;193;186;280	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	280;193;186	ENSP00000441032:R193H;ENSP00000439267:R186H	ENSP00000441032:R193H	R	+	2	0	GRAMD1A	40194270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.363000	0.97131	2.338000	0.79540	0.561000	0.74099	CGC		0.617	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		4	63	0	0	0	1	0	4	63				
LRRN1	57633	broad.mit.edu	37	3	3887104	3887104	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:3887104A>G	ENST00000319331.3	+	2	1540	c.779A>G	c.(778-780)cAa>cGa	p.Q260R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	260						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTTGCCCTGCAAAAAGTTCCA	0.398																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(778-780)cAa>cGa		leucine rich repeat neuronal 1							73.0	81.0	78.0					3																	3887104		2203	4299	6502	SO:0001583	missense	57633					integral to membrane		g.chr3:3887104A>G	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.779A>G	3.37:g.3887104A>G	ENSP00000314901:p.Gln260Arg					SUMF1_ENST00000534863.1_Intron	p.Q260R	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1540	+			260					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.779A>G	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047598	0.36085	.	.	ENSG00000175928	ENST00000319331	T	0.58060	0.36	5.46	4.32	0.51571	.	0.174768	0.51477	D	0.000081	T	0.30262	0.0759	N	0.11106	0.095	0.46279	D	0.998969	B	0.02656	0.0	B	0.04013	0.001	T	0.10941	-1.0608	10	0.19147	T	0.46	.	10.7554	0.46234	0.9256:0.0:0.0744:0.0	.	260	Q6UXK5	LRRN1_HUMAN	R	260	ENSP00000314901:Q260R	ENSP00000314901:Q260R	Q	+	2	0	LRRN1	3862104	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.313000	0.72844	2.067000	0.61834	0.477000	0.44152	CAA		0.398	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		44	60	0	0	0	1	0	44	60				
HIST1H2AE	3012	broad.mit.edu	37	6	26217213	26217213	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:26217213G>T	ENST00000303910.2	+	1	49	c.11G>T	c.(10-12)cGt>cTt	p.R4L	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	4						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				ATGTCTGGACGTGGAAAGCAA	0.493																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(10-12)cGt>cTt		histone cluster 1, H2ae							59.0	53.0	55.0					6																	26217213		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217213G>T	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.11G>T	6.37:g.26217213G>T	ENSP00000303373:p.Arg4Leu						p.R4L	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	49	+		all_hematologic(11;0.196)	4					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.11G>T	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.60	2.285638	0.40394	.	.	ENSG00000168274	ENST00000303910	T	0.45276	0.9	4.08	4.08	0.47627	.	0.000000	0.33650	U	0.004682	T	0.58779	0.2146	M	0.84948	2.725	0.47153	D	0.999332	.	.	.	.	.	.	T	0.67929	-0.5543	8	0.87932	D	0	.	15.7958	0.78409	0.0:0.0:1.0:0.0	.	.	.	.	L	4	ENSP00000303373:R4L	ENSP00000303373:R4L	R	+	2	0	HIST1H2AE	26325192	0.999000	0.42202	0.999000	0.59377	0.777000	0.43975	9.349000	0.97066	2.267000	0.75376	0.655000	0.94253	CGT		0.493	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		3	55	1	0	1	1	1	3	55				
MDFIC	29969	broad.mit.edu	37	7	114619720	114619720	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:114619720C>A	ENST00000393486.1	+	4	967	c.377C>A	c.(376-378)cCt>cAt	p.P126H	MDFIC_ENST00000257724.3_Missense_Mutation_p.P235H	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CTTTCAGCACCTGTTTCTCAA	0.423																																						ENST00000257724.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(703-705)cCt>cAt		MyoD family inhibitor domain containing							88.0	89.0	89.0					7																	114619720		2203	4300	6503	SO:0001583	missense	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114619720C>A	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.377C>A	7.37:g.114619720C>A	ENSP00000377126:p.Pro126His					MDFIC_ENST00000393486.1_Missense_Mutation_p.P126H	p.P235H			Q9P1T7	MDFIC_HUMAN			4	967	+			126			Cys-rich.			Missense_Mutation	SNP	ENST00000393486.1	37	c.704C>A	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793833	0.90453	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.98	5.98	0.97165	.	0.122605	0.53938	D	0.000041	D	0.83543	0.5277	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83900	0.0289	9	0.72032	D	0.01	2.1923	20.452	0.99131	0.0:1.0:0.0:0.0	.	126	Q9P1T7	MDFIC_HUMAN	H	235;126;112;71	.	ENSP00000257724:P235H	P	+	2	0	MDFIC	114406956	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.317000	0.72862	2.838000	0.97847	0.591000	0.81541	CCT		0.423	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		14	54	1	0	9.31168e-06	1	1.0207e-05	14	54				
OR51M1	390059	broad.mit.edu	37	11	5411068	5411068	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5411068T>C	ENST00000328611.3	+	1	462	c.440T>C	c.(439-441)aTt>aCt	p.I147T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	147					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCGGTCATTATCACTGGC	0.527																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(439-441)aTt>aCt		olfactory receptor, family 51, subfamily M, member 1							208.0	202.0	204.0					11																	5411068		2056	4232	6288	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411068T>C	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.440T>C	11.37:g.5411068T>C	ENSP00000333196:p.Ile147Thr					HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.I147T	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	462	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	147					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.440T>C	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547838	0.45383	.	.	ENSG00000184698	ENST00000328611	T	0.21191	2.02	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34178	U	0.004186	T	0.41719	0.1171	M	0.77616	2.38	0.38261	D	0.941874	D	0.57899	0.981	P	0.56343	0.796	T	0.52155	-0.8613	10	0.87932	D	0	.	13.7653	0.62990	0.0:0.0:0.0:1.0	.	136	Q9H341	O51M1_HUMAN	T	147	ENSP00000333196:I147T	ENSP00000333196:I147T	I	+	2	0	OR51M1	5367644	0.836000	0.29430	0.981000	0.43875	0.096000	0.18686	5.517000	0.67061	2.121000	0.65114	0.533000	0.62120	ATT		0.527	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		21	123	0	0	0	1	0	21	123				
OBSCN	84033	broad.mit.edu	37	1	228476495	228476495	+	Silent	SNP	C	C	T	rs573798549		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:228476495C>T	ENST00000422127.1	+	38	10289	c.10245C>T	c.(10243-10245)tgC>tgT	p.C3415C	OBSCN_ENST00000570156.2_Silent_p.C3844C|OBSCN_ENST00000359599.6_Silent_p.C2262C|OBSCN_ENST00000284548.11_Silent_p.C3415C|OBSCN_ENST00000366707.4_Silent_p.C534C|OBSCN_ENST00000366709.4_Silent_p.C534C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3415	Ig-like 34.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCTGTGTGCGAGCTGCAGA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19446	0.001		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11530-11532)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							110.0	131.0	124.0					1																	228476495		2181	4269	6450	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228476495C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10245C>T	1.37:g.228476495C>T						OBSCN_ENST00000366707.4_Silent_p.C534C|OBSCN_ENST00000284548.11_Silent_p.C3415C|OBSCN_ENST00000422127.1_Silent_p.C3415C|OBSCN_ENST00000359599.6_Silent_p.C2262C|OBSCN_ENST00000366709.4_Silent_p.C534C	p.C3844C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			43	11606	+		Prostate(94;0.0405)	2881			Ig-like 39.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.11532C>T	CCDS58065.1																																																																																				0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	77	0	0	0	1	0	14	77				
TAS2R16	50833	broad.mit.edu	37	7	122635208	122635208	+	Missense_Mutation	SNP	G	G	T	rs28371576	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:122635208G>T	ENST00000249284.2	-	1	546	c.481C>A	c.(481-483)Cca>Aca	p.P161T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	161					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGTTTCTTGGTAGATGCTCC	0.393																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(481-483)Cca>Aca		taste receptor, type 2, member 16							166.0	154.0	158.0					7																	122635208		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635208G>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.481C>A	7.37:g.122635208G>T	ENSP00000249284:p.Pro161Thr						p.P161T	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	546	-			161					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.481C>A	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311675	0.23821	.	.	ENSG00000128519	ENST00000249284	T	0.00711	5.8	4.56	-2.76	0.05896	.	0.946694	0.08735	N	0.901497	T	0.00998	0.0033	L	0.51422	1.61	0.09310	N	1	P	0.46578	0.88	P	0.48334	0.574	T	0.39643	-0.9604	10	0.17832	T	0.49	.	1.3722	0.02213	0.4011:0.1415:0.3133:0.1441	.	161	Q9NYV7	T2R16_HUMAN	T	161	ENSP00000249284:P161T	ENSP00000249284:P161T	P	-	1	0	TAS2R16	122422444	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.609000	0.05635	-0.501000	0.06605	0.655000	0.94253	CCA		0.393	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		7	139	1	0	0.0293803	1	0.0301744	7	139				
MUC16	94025	broad.mit.edu	37	19	9066862	9066862	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:9066862T>G	ENST00000397910.4	-	3	20787	c.20584A>C	c.(20584-20586)Agt>Cgt	p.S6862R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6864	Thr-rich.				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)				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						TGTGAGGTACTGCTCAAATTT	0.493																																						ENST00000397910.4																			0				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.(20584-20586)Agt>Cgt		mucin 16, cell surface associated							174.0	164.0	167.0					19																	9066862		2059	4212	6271	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066862T>G	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.20584A>C	19.37:g.9066862T>G	ENSP00000381008:p.Ser6862Arg						p.S6862R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	20787	-			6864			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20584A>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.531	-0.095683	0.07010	.	.	ENSG00000181143	ENST00000397910	T	0.35048	1.33	2.33	1.29	0.21616	.	.	.	.	.	T	0.32406	0.0828	L	0.42245	1.32	.	.	.	P	0.39131	0.661	P	0.44561	0.453	T	0.40776	-0.9545	8	0.87932	D	0	.	4.3819	0.11299	0.0:0.1711:0.0:0.8289	.	6862	B5ME49	.	R	6862	ENSP00000381008:S6862R	ENSP00000381008:S6862R	S	-	1	0	MUC16	8927862	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.648000	0.24828	0.312000	0.23038	-0.866000	0.03004	AGT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	87	0	0	0	1	0	17	87				
ACAN	176	broad.mit.edu	37	15	89403664	89403664	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:89403664A>C	ENST00000561243.1	+	12	6940	c.6940A>C	c.(6940-6942)Aac>Cac	p.N2314H	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Intron|ACAN_ENST00000439576.2_Missense_Mutation_p.N2314H			P16112	PGCA_HUMAN	aggrecan	2199	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGCACTGTAACATAGGTAA	0.617																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6940-6942)Aac>Cac		aggrecan							38.0	41.0	40.0					15																	89403664		2050	4180	6230	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89403664A>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6940A>C	15.37:g.89403664A>C	ENSP00000453342:p.Asn2314His					ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.N2314H	p.N2314H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		13	7314	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2314					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6940A>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933577	0.52866	.	.	ENSG00000157766	ENST00000439576;ENST00000268134	T	0.16743	2.32	4.83	1.54	0.23209	.	.	.	.	.	T	0.21590	0.0520	N	0.21508	0.67	0.21445	N	0.999689	D	0.67145	0.996	D	0.63488	0.915	T	0.11470	-1.0586	9	0.66056	D	0.02	-1.9137	6.691	0.23171	0.4864:0.0:0.5136:0.0	.	2314	E7EX88	.	H	2314;2200	ENSP00000387356:N2314H	ENSP00000268134:N2200H	N	+	1	0	ACAN	87204668	0.001000	0.12720	0.150000	0.22450	0.840000	0.47671	0.690000	0.25451	0.119000	0.18210	-0.408000	0.06270	AAC		0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		6	23	0	0	0	1	0	6	23				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	62	0	0	0	1	0	4	62				
AXDND1	126859	broad.mit.edu	37	1	179478532	179478532	+	Silent	SNP	T	T	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:179478532T>A	ENST00000367618.3	+	21	2877	c.2490T>A	c.(2488-2490)ctT>ctA	p.L830L		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	830	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGCGGCTACTTGAAGAGGTAT	0.353																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2488-2490)ctT>ctA		axonemal dynein light chain domain containing 1							74.0	70.0	71.0					1																	179478532		2203	4300	6503	SO:0001819	synonymous_variant	126859							g.chr1:179478532T>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2490T>A	1.37:g.179478532T>A							p.L830L	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			21	2877	+			830			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	ENST00000367618.3	37	c.2490T>A	CCDS30948.1																																																																																				0.353	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		6	35	0	0	0	1	0	6	35				
ACSBG1	23205	broad.mit.edu	37	15	78474351	78474351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:78474351C>T	ENST00000258873.4	-	8	1236	c.1031G>A	c.(1030-1032)tGg>tAg	p.W344*	ACSBG1_ENST00000560817.1_Nonsense_Mutation_p.W102*|ACSBG1_ENST00000541759.1_Nonsense_Mutation_p.W102*	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	344					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGGGCCCCCCACTGGATGCC	0.627																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1030-1032)tGg>tAg		acyl-CoA synthetase bubblegum family member 1							87.0	70.0	76.0					15																	78474351		2196	4293	6489	SO:0001587	stop_gained	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474351C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1031G>A	15.37:g.78474351C>T	ENSP00000258873:p.Trp344*					ACSBG1_ENST00000541759.1_Nonsense_Mutation_p.W102*|ACSBG1_ENST00000560817.1_Nonsense_Mutation_p.W102*	p.W344*	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			8	1236	-			344					B2RB61|O75126|Q76N27|Q9HC26	Nonsense_Mutation	SNP	ENST00000258873.4	37	c.1031G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	40	8.468240	0.98825	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	.	.	.	5.44	3.57	0.40892	.	0.284658	0.36628	N	0.002485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.2714	11.3029	0.49318	0.0:0.853:0.0:0.147	.	.	.	.	X	344;102	.	ENSP00000258873:W344X	W	-	2	0	ACSBG1	76261406	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.425000	0.44723	0.687000	0.31509	0.650000	0.86243	TGG		0.627	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		15	27	0	0	0	1	0	15	27				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			3	35	0	0	0	1	0	3	35				
DNAH3	55567	broad.mit.edu	37	16	21049090	21049090	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:21049090A>G	ENST00000261383.3	-	34	4942	c.4943T>C	c.(4942-4944)cTg>cCg	p.L1648P	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1648P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1648					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACCTGAAACAGAGGGACATC	0.498																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4942-4944)cTg>cCg		dynein, axonemal, heavy chain 3							114.0	89.0	97.0					16																	21049090		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21049090A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4943T>C	16.37:g.21049090A>G	ENSP00000261383:p.Leu1648Pro					DNAH3_ENST00000415178.1_Missense_Mutation_p.L1648P	p.L1648P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4942	-			1648					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4943T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562608	0.86335	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.50001	0.76;0.76	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000007	T	0.80149	0.4570	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87482	0.2421	10	0.87932	D	0	.	15.7923	0.78376	1.0:0.0:0.0:0.0	.	1648	Q8TD57	DYH3_HUMAN	P	1648	ENSP00000261383:L1648P;ENSP00000394245:L1648P	ENSP00000261383:L1648P	L	-	2	0	DNAH3	20956591	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.253000	0.95501	2.139000	0.66308	0.459000	0.35465	CTG		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	20	0	0	0	1	0	4	20				
ACVR2B	93	broad.mit.edu	37	3	38519421	38519421	+	Silent	SNP	C	C	T	rs528729033		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:38519421C>T	ENST00000352511.4	+	3	802	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	110					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ACTTCTGCAACGAACGCTTCA	0.582																																						ENST00000352511.3																			0				lung(1)	1						c.(328-330)aaC>aaT		activin A receptor, type IIB							128.0	126.0	126.0					3																	38519421		2203	4300	6503	SO:0001819	synonymous_variant	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38519421C>T	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.330C>T	3.37:g.38519421C>T							p.N110N	NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	3	802	+	Medulloblastoma(35;0.163)		110					Q4VAV0	Silent	SNP	ENST00000352511.4	37	c.330C>T	CCDS2679.1																																																																																				0.582	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		49	52	0	0	0	1	0	49	52				
HELZ2	85441	broad.mit.edu	37	20	62195645	62195645	+	Silent	SNP	C	C	T	rs45625632	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr20:62195645C>T	ENST00000467148.1	-	8	4599	c.4530G>A	c.(4528-4530)ccG>ccA	p.P1510P	HELZ2_ENST00000427522.2_Silent_p.P941P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1510					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGTCCTCGTCCGGCTGCTCAT	0.657													c|||	3	0.000599042	0.0	0.0	5008	,	,		16677	0.0		0.002	False		,,,				2504	0.001					ENST00000467148.1																			0											c.(4528-4530)ccG>ccA		helicase with zinc finger 2, transcriptional coactivator		T	,	2,4350		0,2,2174	24.0	18.0	20.0		4530,2823	-9.8	0.0	20	dbSNP_127	20	11,8567		0,11,4278	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	0,13,6452	TT,TC,CC		0.1282,0.046,0.1005	,	1510/2650,941/2081	62195645	13,12917	2176	4289	6465	SO:0001819	synonymous_variant	85441							g.chr20:62195645C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4530G>A	20.37:g.62195645C>T						HELZ2_ENST00000427522.2_Silent_p.P941P	p.P1510P	NM_001037335.2	NP_001032412.2					8	4599	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.4530G>A	CCDS33508.1																																																																																				0.657	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		7	9	0	0	0	1	0	7	9				
CXXC1	30827	broad.mit.edu	37	18	47812492	47812492	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:47812492C>T	ENST00000285106.6	-	4	1073	c.359G>A	c.(358-360)cGc>cAc	p.R120H	CXXC1_ENST00000412036.2_Missense_Mutation_p.R120H|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.R120H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	120					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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTGCCCGGCGCTGCAGGTC	0.672																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(358-360)cGc>cAc		CXXC finger protein 1							60.0	70.0	67.0					18																	47812492		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812492C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.359G>A	18.37:g.47812492C>T	ENSP00000285106:p.Arg120His					CXXC1_ENST00000412036.2_Missense_Mutation_p.R120H|CXXC1_ENST00000589940.1_Missense_Mutation_p.R120H	p.R120H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			4	1073	-			120					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.359G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169459	0.38315	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.24350	1.86;1.86	3.46	3.46	0.39613	.	0.368708	0.28349	N	0.015675	T	0.12347	0.0300	N	0.08118	0	0.43988	D	0.996686	P;B;B;B	0.48350	0.909;0.234;0.345;0.234	B;B;B;B	0.39027	0.288;0.004;0.009;0.004	T	0.07462	-1.0771	10	0.48119	T	0.1	-12.5727	11.1336	0.48362	0.0:1.0:0.0:0.0	.	120;120;120;120	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	H	120	ENSP00000285106:R120H;ENSP00000390475:R120H	ENSP00000285106:R120H	R	-	2	0	CXXC1	46066490	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	1.594000	0.36697	1.899000	0.54978	0.542000	0.68232	CGC		0.672	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		12	74	0	0	0	1	0	12	74				
PITX2	5308	broad.mit.edu	37	4	111539467	111539467	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:111539467C>A	ENST00000354925.2	-	7	2473	c.768G>T	c.(766-768)gcG>gcT	p.A256A	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394598.2_Silent_p.A256A|PITX2_ENST00000394595.3_3'UTR|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000306732.3_Silent_p.A263A|PITX2_ENST00000355080.5_Silent_p.A210A	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	256					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGTCGGCACCGCGGAATTCA	0.597																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(766-768)gcG>gcT		paired-like homeodomain 2							46.0	49.0	48.0					4																	111539467		2203	4300	6503	SO:0001819	synonymous_variant	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539467C>A	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.768G>T	4.37:g.111539467C>A						PITX2_ENST00000306732.3_Silent_p.A263A|PITX2_ENST00000355080.5_Silent_p.A210A|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000394598.2_Silent_p.A256A	p.A256A	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2473	-		Hepatocellular(203;0.217)	256					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Silent	SNP	ENST00000354925.2	37	c.768G>T	CCDS3692.1																																																																																				0.597	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			6	28	1	0	0.0215528	1	0.0223365	6	28				
NME8	51314	broad.mit.edu	37	7	37889884	37889884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:37889884C>T	ENST00000199447.4	+	3	388	c.16C>T	c.(16-18)Cga>Tga	p.R6*	NME8_ENST00000440017.1_Nonsense_Mutation_p.R6*|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	6	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.R6*(1)									AAGCAAAAAACGAGAAGTCCA	0.333																																						ENST00000199447.4																			1	Substitution - Nonsense(1)	p.R6*(1)	central_nervous_system(1)								c.(16-18)Cga>Tga		NME/NM23 family member 8							178.0	186.0	183.0					7																	37889884		2203	4300	6503	SO:0001587	stop_gained	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37889884C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.16C>T	7.37:g.37889884C>T	ENSP00000199447:p.Arg6*					EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Nonsense_Mutation_p.R6*	p.R6*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			3	388	+			6			Thioredoxin.		Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	c.16C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375862	0.95923	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	.	.	.	5.12	0.691	0.18045	.	2.820870	0.03182	N	0.172170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3254	6.9338	0.24455	0.5973:0.3108:0.0:0.092	.	.	.	.	X	6	.	ENSP00000199447:R6X	R	+	1	2	TXNDC3	37856409	1.000000	0.71417	0.986000	0.45419	0.469000	0.32828	0.940000	0.28992	0.188000	0.20168	-0.310000	0.09108	CGA		0.333	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		10	181	0	0	0	1	0	10	181				
MYLK3	91807	broad.mit.edu	37	16	46744669	46744669	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:46744669G>C	ENST00000394809.4	-	11	2262	c.2147C>G	c.(2146-2148)aCa>aGa	p.T716R	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.T375R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	716	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCTGCATCTGTTTCCCCTAG	0.478																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(2146-2148)aCa>aGa		myosin light chain kinase 3							107.0	115.0	112.0					16																	46744669		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46744669G>C	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2147C>G	16.37:g.46744669G>C	ENSP00000378288:p.Thr716Arg					MYLK3_ENST00000536476.1_Missense_Mutation_p.T375R|MYLK3_ENST00000562104.1_5'UTR	p.T716R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			11	2262	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	716			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.2147C>G	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094942	0.76870	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.40756	1.02;1.02	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.217677	0.23347	N	0.049172	T	0.53562	0.1804	L	0.28458	0.855	0.45648	D	0.998571	D	0.69078	0.997	D	0.72625	0.978	T	0.53344	-0.8452	10	0.72032	D	0.01	.	15.973	0.80034	0.0:0.1339:0.8661:0.0	.	716	Q32MK0	MYLK3_HUMAN	R	716;375	ENSP00000378288:T716R;ENSP00000439297:T375R	ENSP00000378288:T716R	T	-	2	0	MYLK3	45302170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.929000	0.63455	2.861000	0.98227	0.655000	0.94253	ACA		0.478	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		9	109	0	0	0	1	0	9	109				
HPSE2	60495	broad.mit.edu	37	10	100453669	100453669	+	Missense_Mutation	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:100453669A>T	ENST00000370552.3	-	6	1051	c.992T>A	c.(991-993)gTt>gAt	p.V331D	HPSE2_ENST00000370546.1_Missense_Mutation_p.V331D|HPSE2_ENST00000404542.1_Missense_Mutation_p.V219D|HPSE2_ENST00000370549.1_Missense_Mutation_p.V273D	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	331					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTGCCAGGTAACTGCATCTAC	0.343																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(991-993)gTt>gAt		heparanase 2							148.0	141.0	143.0					10																	100453669		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100453669A>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.992T>A	10.37:g.100453669A>T	ENSP00000359583:p.Val331Asp					HPSE2_ENST00000370546.1_Missense_Mutation_p.V331D|HPSE2_ENST00000370549.1_Missense_Mutation_p.V273D|HPSE2_ENST00000404542.1_Missense_Mutation_p.V219D	p.V331D	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	6	1051	-			331					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.992T>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249022	0.80024	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.84	5.84	0.93424	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.69078	0.991;0.993;0.996;0.997	P;P;D;D	0.67382	0.783;0.899;0.918;0.951	T	0.61773	-0.6994	10	0.72032	D	0.01	-8.4434	14.161	0.65446	1.0:0.0:0.0:0.0	.	219;331;273;331	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	D	331;273;331;219	ENSP00000359583:V331D;ENSP00000359580:V273D;ENSP00000359577:V331D;ENSP00000384384:V219D	ENSP00000359577:V331D	V	-	2	0	HPSE2	100443659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.006000	0.70724	2.230000	0.72887	0.528000	0.53228	GTT		0.343	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		23	34	0	0	0	1	0	23	34				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	2	0	0	0	1	0	28	2				
SIRT2	22933	broad.mit.edu	37	19	39369942	39369942	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:39369942C>T	ENST00000249396.7	-	16	1324	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	SIRT2_ENST00000358931.5_3'UTR|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000392081.2_Silent_p.L304L|RINL_ENST00000598904.1_5'Flank|RINL_ENST00000340740.3_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	341					autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CAAGGTCCTCCAGCTCCTTCT	0.637																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(1021-1023)ctG>ctA		sirtuin 2							29.0	32.0	31.0					19																	39369942		2203	4300	6503	SO:0001819	synonymous_variant	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39369942C>T	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.1023G>A	19.37:g.39369942C>T						SIRT2_ENST00000392081.2_Silent_p.L304L|SIRT2_ENST00000358931.5_3'UTR	p.L341L	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		16	1324	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		341					A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Silent	SNP	ENST00000249396.7	37	c.1023G>A	CCDS12523.1																																																																																				0.637	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			3	20	0	0	0	1	0	3	20				
OR9Q2	219957	broad.mit.edu	37	11	57958704	57958704	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:57958704G>A	ENST00000311591.3	+	1	799	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCTCACTGCCGTCGCTCTTTT	0.577																																						ENST00000311591.3																			1	Substitution - Missense(1)	p.V248I(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(742-744)Gtc>Atc		olfactory receptor, family 9, subfamily Q, member 2							129.0	110.0	117.0					11																	57958704		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958704G>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.742G>A	11.37:g.57958704G>A	ENSP00000308714:p.Val248Ile						p.V248I	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	799	+		Breast(21;0.0589)	248						Missense_Mutation	SNP	ENST00000311591.3	37	c.742G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586121	0.28268	.	.	ENSG00000186513	ENST00000311591	T	0.00340	8.04	5.09	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.170594	0.27715	N	0.018144	T	0.00815	0.0027	M	0.81614	2.55	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.39881	-0.9592	10	0.56958	D	0.05	-21.5191	13.3599	0.60650	0.0759:0.0:0.9241:0.0	.	248	Q8NGE9	OR9Q2_HUMAN	I	248	ENSP00000308714:V248I	ENSP00000308714:V248I	V	+	1	0	OR9Q2	57715280	0.993000	0.37304	0.076000	0.20297	0.049000	0.14656	2.377000	0.44300	1.514000	0.48869	-0.126000	0.14955	GTC		0.577	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		4	83	0	0	0	1	0	4	83				
DPYD	1806	broad.mit.edu	37	1	97547949	97547949	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:97547949A>C	ENST00000370192.3	-	22	2944	c.2844T>G	c.(2842-2844)atT>atG	p.I948M		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	948	4Fe-4S ferredoxin-type 2. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTTCTTCATCAATCATAGCCA	0.388																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2842-2844)atT>atG		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						240.0	220.0	227.0					1																	97547949		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97547949A>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2844T>G	1.37:g.97547949A>C	ENSP00000359211:p.Ile948Met						p.I948M	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	22	2944	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	948			4Fe-4S ferredoxin-type 2.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2844T>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300900	0.60195	.	.	ENSG00000188641	ENST00000370192	D	0.93019	-3.15	5.82	-3.32	0.04973	4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	H	0.95437	3.67	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.96641	0.9474	10	0.87932	D	0	-16.2722	13.8832	0.63693	0.8329:0.0:0.1671:0.0	.	948	Q12882	DPYD_HUMAN	M	948	ENSP00000359211:I948M	ENSP00000359211:I948M	I	-	3	3	DPYD	97320537	0.296000	0.24398	0.956000	0.39512	0.743000	0.42351	-0.265000	0.08644	-0.471000	0.06891	-0.146000	0.13790	ATT		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		6	102	0	0	0	1	0	6	102				
C9orf116	138162	broad.mit.edu	37	9	138391685	138391685	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:138391685A>G	ENST00000429260.2	-	1	33	c.13T>C	c.(13-15)Tgc>Cgc	p.C5R	C9orf116_ENST00000371791.1_Missense_Mutation_p.C5R|C9orf116_ENST00000371789.3_Missense_Mutation_p.C5R|MRPS2_ENST00000241600.5_5'Flank|MRPS2_ENST00000371785.1_5'Flank	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	5															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCTCTGGGGCATTCCTCAGCC	0.706																																						ENST00000371789.3																			0											c.(13-15)Tgc>Cgc		chromosome 9 open reading frame 116							9.0	11.0	10.0					9																	138391685		2176	4275	6451	SO:0001583	missense	138162							g.chr9:138391685A>G	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"""p53-induced expression 1 in Rb&#8722;/&#8722; cells"""	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.13T>C	9.37:g.138391685A>G	ENSP00000395281:p.Cys5Arg					C9orf116_ENST00000371791.1_Missense_Mutation_p.C5R|C9orf116_ENST00000429260.2_Missense_Mutation_p.C5R	p.C5R			Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	1	679	-			5					Q5T897|Q8WU44	Missense_Mutation	SNP	ENST00000429260.2	37	c.13T>C	CCDS43899.1	.	.	.	.	.	.	.	.	.	.	A	9.866	1.197548	0.22037	.	.	ENSG00000160345	ENST00000429260;ENST00000371789;ENST00000371791	.	.	.	3.79	-5.8	0.02347	.	3.886250	0.00447	N	0.000086	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09952	-1.0651	9	0.15066	T	0.55	-0.684	1.205	0.01893	0.1286:0.2281:0.2567:0.3866	.	5;5	Q5BN46;Q5BN46-2	CI116_HUMAN;.	R	5	.	ENSP00000360854:C5R	C	-	1	0	C9orf116	137531506	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.145000	0.03194	-0.802000	0.04421	-0.384000	0.06662	TGC		0.706	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		5	11	0	0	0	1	0	5	11				
RNF138	51444	broad.mit.edu	37	18	29691839	29691839	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:29691839T>C	ENST00000261593.3	+	3	691	c.233T>C	c.(232-234)aTa>aCa	p.I78T	RNF138_ENST00000257190.5_Intron|RP11-53I6.2_ENST00000583184.1_RNA|RNF138_ENST00000585103.1_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	78					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGAAAATATAATGAGGAAG	0.438																																						ENST00000261593.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(232-234)aTa>aCa		ring finger protein 138, E3 ubiquitin protein ligase							83.0	77.0	79.0					18																	29691839		2203	4300	6503	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29691839T>C	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.233T>C	18.37:g.29691839T>C	ENSP00000261593:p.Ile78Thr					RNF138_ENST00000257190.5_Intron|RNF138_ENST00000585103.1_Intron	p.I78T	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN			3	691	+			78					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.233T>C	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421464	0.25639	.	.	ENSG00000134758	ENST00000261593	D	0.87966	-2.32	5.71	5.71	0.89125	Zinc finger, RING/FYVE/PHD-type (1);	0.572253	0.19431	N	0.114447	T	0.79839	0.4515	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.71331	-0.4625	10	0.15499	T	0.54	-26.3227	7.2711	0.26258	0.1235:0.0:0.1899:0.6866	.	78	Q8WVD3	RN138_HUMAN	T	78	ENSP00000261593:I78T	ENSP00000261593:I78T	I	+	2	0	RNF138	27945837	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.488000	0.35551	2.175000	0.68902	0.482000	0.46254	ATA		0.438	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		3	52	0	0	0	1	0	3	52				
WNT3	7473	broad.mit.edu	37	17	44851146	44851146	+	Silent	SNP	G	G	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:44851146G>C	ENST00000225512.5	-	2	372	c.210C>G	c.(208-210)gcC>gcG	p.A70A		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	70					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCACGCCCTCGGCCACGCTGG	0.652																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(208-210)gcC>gcG		wingless-type MMTV integration site family, member 3							53.0	56.0	55.0					17																	44851146		2203	4300	6503	SO:0001819	synonymous_variant	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44851146G>C	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.210C>G	17.37:g.44851146G>C							p.A70A	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	372	-			70					Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	c.210C>G	CCDS11505.1																																																																																				0.652	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		7	60	0	0	0	1	0	7	60				
NEFM	4741	broad.mit.edu	37	8	24775141	24775141	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:24775141G>T	ENST00000221166.5	+	3	2555	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N	NEFM_ENST00000518131.1_Intron|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_Missense_Mutation_p.K215N|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000437366.2_Missense_Mutation_p.K591N			P07197	NFM_HUMAN	neurofilament, medium polypeptide	591	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tggaggaaaagagtgaggaag	0.488																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1771-1773)aaG>aaT		neurofilament, medium polypeptide							38.0	43.0	41.0					8																	24775141		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775141G>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1773G>T	8.37:g.24775141G>T	ENSP00000221166:p.Lys591Asn					NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.K215N|NEFM_ENST00000437366.2_Missense_Mutation_p.K591N|NEFM_ENST00000521540.1_Intron	p.K591N			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2555	+		Prostate(55;0.157)	591			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.1773G>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	3.372	-0.128239	0.06753	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.95656	-1.93;-1.94;-3.77	4.24	3.36	0.38483	.	0.000000	0.47852	D	0.000218	D	0.93844	0.8031	M	0.78916	2.43	0.22081	N	0.999375	P	0.43477	0.808	B	0.42282	0.382	D	0.86612	0.1873	10	0.30854	T	0.27	.	7.8593	0.29501	0.199:0.0:0.801:0.0	.	591	P07197	NFM_HUMAN	N	591;591;215	ENSP00000221166:K591N;ENSP00000410137:K591N;ENSP00000412295:K215N	ENSP00000221166:K591N	K	+	3	2	NEFM	24831046	0.022000	0.18835	0.057000	0.19452	0.659000	0.38960	0.586000	0.23894	0.760000	0.33108	0.313000	0.20887	AAG		0.488	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		4	22	1	0	0.00909568	1	0.00951291	4	22				
ATRX	546	broad.mit.edu	37	X	76938297	76938297	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:76938297A>T	ENST00000373344.5	-	9	2665	c.2451T>A	c.(2449-2451)taT>taA	p.Y817*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y779*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	817					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						attctgagtcataattagaag	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2449-2451)taT>taA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						87.0	95.0	93.0					X																	76938297		2203	4291	6494	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938297A>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2451T>A	X.37:g.76938297A>T	ENSP00000362441:p.Tyr817*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y779*|ATRX_ENST00000480283.1_5'UTR	p.Y817*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2665	-			817					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2451T>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	40	8.276657	0.98740	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	3.35	0.38373	.	0.078043	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9076	8.4235	0.32714	0.7743:0.0:0.2257:0.0	.	.	.	.	X	817;779;744	.	ENSP00000362441:Y817X	Y	-	3	2	ATRX	76824953	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.411000	0.44600	0.294000	0.22547	-0.539000	0.04255	TAT		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		77	110	0	0	0	1	0	77	110				
KIAA1210	57481	broad.mit.edu	37	X	118223155	118223155	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:118223155G>T	ENST00000402510.2	-	11	2037	c.2038C>A	c.(2038-2040)Caa>Aaa	p.Q680K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	680										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCTCCTCTTGGGTTGTAGAA	0.453																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(2038-2040)Caa>Aaa		KIAA1210							54.0	50.0	51.0					X																	118223155		1929	4124	6053	SO:0001583	missense	57481							g.chrX:118223155G>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2038C>A	X.37:g.118223155G>T	ENSP00000384670:p.Gln680Lys						p.Q680K	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	2037	-			680					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2038C>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.075038|2.075038	0.36566|0.36566	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.14516	.|2.5	4.21|4.21	1.32|1.32	0.21799|0.21799	.|.	.|.	.|.	.|.	.|.	T|T	0.12561|0.12561	0.0305|0.0305	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.46912	.|0.886	.|P	.|0.47573	.|0.55	T|T	0.21655|0.21655	-1.0239|-1.0239	5|9	.|0.28530	.|T	.|0.3	.|.	6.6406|6.6406	0.22906|0.22906	0.0:0.3721:0.4333:0.1946|0.0:0.3721:0.4333:0.1946	.|.	.|680	.|Q9ULL0	.|K1210_HUMAN	Q|K	86|680	.|ENSP00000384670:Q680K	.|ENSP00000384670:Q680K	P|Q	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118107183|118107183	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.519000|0.519000	0.22862|0.22862	0.133000|0.133000	0.18654|0.18654	0.506000|0.506000	0.49869|0.49869	CCA|CAA		0.453	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		5	26	1	0	3.59834e-05	1	3.90676e-05	5	26				
PIK3CA	5290	broad.mit.edu	37	3	178928226	178928226	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:178928226C>T	ENST00000263967.3	+	9	1569	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	471	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P471L(6)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAGGAAACTCCATGCTTAGAG	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		6	Substitution - Missense(6)	p.P471L(6)	large_intestine(2)|endometrium(2)|skin(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1411-1413)cCa>cTa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	93.0	95.0					3																	178928226		1846	4090	5936	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928226C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1412C>T	3.37:g.178928226C>T	ENSP00000263967:p.Pro471Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.P471L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1569	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		471			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1412C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756128	0.89843	.	.	ENSG00000121879	ENST00000263967	T	0.75821	-0.97	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.107853	0.64402	D	0.000005	D	0.83769	0.5326	M	0.74258	2.255	0.80722	D	1	D	0.56968	0.978	P	0.57620	0.824	T	0.81326	-0.0983	10	0.30854	T	0.27	-14.0418	19.6973	0.96031	0.0:1.0:0.0:0.0	.	471	P42336	PK3CA_HUMAN	L	471	ENSP00000263967:P471L	ENSP00000263967:P471L	P	+	2	0	PIK3CA	180410920	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.466000	0.80914	2.674000	0.91012	0.655000	0.94253	CCA		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	67	0	0	0	1	0	5	67				
YPEL2	388403	broad.mit.edu	37	17	57465703	57465703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:57465703C>T	ENST00000312655.4	+	3	451	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Nonsense_Mutation_p.Q45*	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	45						nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CCAAGGAAGTCAAGGACGAGC	0.433																																					Melanoma(86;1113 1364 8518 42220 42625)	ENST00000312655.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(133-135)Caa>Taa		yippee-like 2 (Drosophila)							305.0	252.0	270.0					17																	57465703		2203	4300	6503	SO:0001587	stop_gained	388403					nucleolus		g.chr17:57465703C>T	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.133C>T	17.37:g.57465703C>T	ENSP00000312272:p.Gln45*					YPEL2_ENST00000585166.1_Nonsense_Mutation_p.Q45*|YPEL2_ENST00000581865.1_3'UTR	p.Q45*	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN			3	451	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		45					A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Nonsense_Mutation	SNP	ENST00000312655.4	37	c.133C>T	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	C	40	8.218856	0.98712	.	.	ENSG00000175155	ENST00000312655	.	.	.	5.98	5.98	0.97165	.	0.059052	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.6134	19.5092	0.95133	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000312272:Q45X	Q	+	1	0	YPEL2	54820485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	CAA		0.433	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070		17	82	0	0	0	1	0	17	82				
TRPA1	8989	broad.mit.edu	37	8	72970013	72970013	+	Silent	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:72970013A>G	ENST00000262209.4	-	9	1239	c.1032T>C	c.(1030-1032)tcT>tcC	p.S344S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	344					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATATAAGTGGAGAGCGTCCTT	0.353																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1030-1032)tcT>tcC		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						101.0	100.0	100.0					8																	72970013		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72970013A>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1032T>C	8.37:g.72970013A>G							p.S344S	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		9	1239	-			344					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1032T>C	CCDS34908.1																																																																																				0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		18	34	0	0	0	1	0	18	34				
CIB3	117286	broad.mit.edu	37	19	16284257	16284257	+	Silent	SNP	G	G	A	rs138083978	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:16284257G>A	ENST00000269878.4	-	1	79	c.30C>T	c.(28-30)caC>caT	p.H10H	CIB3_ENST00000379859.3_Silent_p.H10H|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	10							calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCAGCTGCTCGTGTGTGAAGA	0.577													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20131	0.0		0.001	False		,,,				2504	0.0					ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(28-30)caC>caT		calcium and integrin binding family member 3		G		12,4394	19.1+/-41.9	0,12,2191	236.0	164.0	188.0		30	-9.4	0.0	19	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CIB3	NM_054113.2		0,13,6490	AA,AG,GG		0.0116,0.2724,0.1		10/188	16284257	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	117286						calcium ion binding	g.chr19:16284257G>A	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.30C>T	19.37:g.16284257G>A						CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Silent_p.H10H	p.H10H	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN			1	79	-			10					E7EUX1|Q2M1W0|Q6ISP1	Silent	SNP	ENST00000269878.4	37	c.30C>T	CCDS12340.1																																																																																				0.577	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		4	100	0	0	0	1	0	4	100				
PSG1	5669	broad.mit.edu	37	19	43382064	43382064	+	Splice_Site	SNP	C	C	T	rs375340094		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:43382064C>T	ENST00000436291.2	-	2	547		c.e2+1		PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000601073.1_Splice_Site|PSG1_ENST00000244296.2_Splice_Site|PSG1_ENST00000403380.3_Splice_Site|PSG1_ENST00000595124.1_Splice_Site	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAATCACTTACGGTGTAAGGT	0.517																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.e2+1		pregnancy specific beta-1-glycoprotein 1		C	,,	0,4402		0,0,2201	271.0	240.0	251.0		,,	0.6	0.0	19		251	1,8597		0,1,4298	no	splice-5,splice-5,splice-5	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,	,,	43382064	1,12999	2201	4299	6500	SO:0001630	splice_region_variant	0							g.chr19:43382064C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.430+1G>A	19.37:g.43382064C>T						PSG1_ENST00000403380.3_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000601073.1_Splice_Site|PSG1_ENST00000595124.1_Splice_Site|PSG1_ENST00000436291.2_Splice_Site		NM_006905.2	NP_008836.2					2	568	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Splice_Site	SNP	ENST00000436291.2	37		CCDS54275.1	.	.	.	.	.	.	.	.	.	.	c	1.547	-0.540240	0.04053	0.0	1.16E-4	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.64	0.564	0.17302	.	.	.	.	.	.	.	.	.	.	.	0.28820	N	0.897749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3141	0.10984	0.0:0.7851:0.0:0.2149	.	.	.	.	.	-1	.	.	.	-	.	.	PSG1	48073904	0.028000	0.19301	0.002000	0.10522	0.004000	0.04260	0.720000	0.25896	0.277000	0.22141	-1.206000	0.01644	.		0.517	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		Intron	5	246	0	0	0	1	0	5	246				
STAB1	23166	broad.mit.edu	37	3	52539037	52539037	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:52539037A>G	ENST00000321725.6	+	13	1472	c.1396A>G	c.(1396-1398)Aaa>Gaa	p.K466E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	466	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTACAAGTACAAAGACCAGCC	0.587																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1396-1398)Aaa>Gaa		stabilin 1							102.0	105.0	104.0					3																	52539037		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539037A>G	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1396A>G	3.37:g.52539037A>G	ENSP00000312946:p.Lys466Glu						p.K466E	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	13	1472	+			466			FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1396A>G	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	A	0.445	-0.896757	0.02472	.	.	ENSG00000010327	ENST00000321725	D	0.90004	-2.6	5.08	-3.47	0.04753	FAS1 domain (3);	1.473280	0.03837	N	0.269948	T	0.77377	0.4121	N	0.21373	0.66	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.007;0.004	T	0.67753	-0.5589	10	0.02654	T	1	.	7.6908	0.28567	0.3157:0.1456:0.5387:0.0	.	466;466	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	466	ENSP00000312946:K466E	ENSP00000312946:K466E	K	+	1	0	STAB1	52514077	0.000000	0.05858	0.004000	0.12327	0.386000	0.30323	-0.358000	0.07641	-0.529000	0.06358	-0.451000	0.05528	AAA		0.587	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	64	0	0	0	1	0	4	64				
MORC4	79710	broad.mit.edu	37	X	106185255	106185255	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:106185255T>A	ENST00000355610.4	-	16	2847	c.2573A>T	c.(2572-2574)gAg>gTg	p.E858V	MORC4_ENST00000255495.7_Missense_Mutation_p.E858V|MORC4_ENST00000535534.1_Missense_Mutation_p.E606V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	858						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTTCAGTTTCTCTTTTAACTC	0.458																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2572-2574)gAg>gTg		MORC family CW-type zinc finger 4							239.0	196.0	211.0					X																	106185255		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106185255T>A	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2573A>T	X.37:g.106185255T>A	ENSP00000347821:p.Glu858Val					MORC4_ENST00000535534.1_Missense_Mutation_p.E606V|MORC4_ENST00000255495.7_Missense_Mutation_p.E858V	p.E858V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			16	2847	-			858					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.2573A>T	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	t	17.12	3.307301	0.60305	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.39056	2.58;1.1;2.34	5.2	5.2	0.72013	.	0.195324	0.36002	N	0.002856	T	0.54078	0.1836	L	0.50333	1.59	0.33651	D	0.608494	D;D;D	0.58620	0.983;0.983;0.981	P;P;D	0.69824	0.637;0.637;0.966	T	0.63642	-0.6591	10	0.30854	T	0.27	-5.6067	10.4213	0.44352	0.0:0.0:0.0:1.0	.	606;858;858	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	V	858;606;858	ENSP00000347821:E858V;ENSP00000440359:E606V;ENSP00000255495:E858V	ENSP00000255495:E858V	E	-	2	0	MORC4	106071911	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.708000	0.47152	1.728000	0.51552	0.371000	0.22339	GAG		0.458	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		9	73	0	0	0	1	0	9	73				
CPNE6	9362	broad.mit.edu	37	14	24542245	24542245	+	Silent	SNP	C	C	A	rs375390921		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:24542245C>A	ENST00000397016.2	+	3	411	c.100C>A	c.(100-102)Cgg>Agg	p.R34R	CPNE6_ENST00000537691.1_Silent_p.R89R|CPNE6_ENST00000560092.1_Intron|CPNE6_ENST00000216775.2_Silent_p.R34R	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	34	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCCTGGACCGGGACACACT	0.622																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(100-102)Cgg>Agg		copine VI (neuronal)							46.0	38.0	40.0					14																	24542245		2203	4300	6503	SO:0001819	synonymous_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24542245C>A	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.100C>A	14.37:g.24542245C>A						CPNE6_ENST00000537691.1_Silent_p.R89R|CPNE6_ENST00000216775.2_Silent_p.R34R|CPNE6_ENST00000560092.1_Intron	p.R34R			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	3	411	+			34			C2 1.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	c.100C>A	CCDS9607.1																																																																																				0.622	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			3	25	1	0	0.00909568	1	0.00951291	3	25				
ANXA11	311	broad.mit.edu	37	10	81921729	81921729	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:81921729G>A	ENST00000438331.1	-	13	1624	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	ANXA11_ENST00000372231.3_Missense_Mutation_p.A381V|ANXA11_ENST00000537102.1_Missense_Mutation_p.A348V|ANXA11_ENST00000535999.1_Missense_Mutation_p.A381V|ANXA11_ENST00000360615.4_Missense_Mutation_p.A381V|ANXA11_ENST00000265447.4_Missense_Mutation_p.A381V|ANXA11_ENST00000422982.3_Missense_Mutation_p.A381V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	381					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GCACAGAACCGCATTGAACTT	0.627											OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(1141-1143)gCg>gTg		annexin A11							63.0	63.0	63.0					10																	81921729		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81921729G>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1142C>T	10.37:g.81921729G>A	ENSP00000398610:p.Ala381Val		OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1210	ANXA11_ENST00000360615.4_Missense_Mutation_p.A381V|ANXA11_ENST00000535999.1_Missense_Mutation_p.A381V|ANXA11_ENST00000372231.3_Missense_Mutation_p.A381V|ANXA11_ENST00000537102.1_Missense_Mutation_p.A348V|ANXA11_ENST00000265447.4_Missense_Mutation_p.A381V|ANXA11_ENST00000422982.3_Missense_Mutation_p.A381V	p.A381V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		13	1624	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		381					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.1142C>T	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.0|20.0	3.930914|3.930914	0.73327|0.73327	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219|ENST00000447489	T;T;T;T;T;T;T|.	0.03358|.	3.96;3.96;3.96;3.96;3.96;3.96;3.96|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Annexin repeat, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61874|0.61874	0.2382|0.2382	L|L	0.45285|0.45285	1.41|1.41	0.58432|0.58432	D|D	0.999998|0.999998	P;P;P|.	0.52061|.	0.95;0.867;0.867|.	P;P;P|.	0.50537|.	0.564;0.643;0.643|.	T|T	0.58036|0.58036	-0.7707|-0.7707	10|5	0.23891|.	T|.	0.37|.	.|.	16.3313|16.3313	0.83015|0.83015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	481;381;381|.	B7Z6L0;Q5T0G8;P50995|.	.;.;ANX11_HUMAN|.	V|W	381;381;381;381;381;381;381;288;348;28|14	ENSP00000361305:A381V;ENSP00000404412:A381V;ENSP00000398610:A381V;ENSP00000353827:A381V;ENSP00000265447:A381V;ENSP00000441748:A381V;ENSP00000441400:A348V|.	ENSP00000265447:A381V|.	A|R	-|-	2|1	0|2	ANXA11|ANXA11	81911709|81911709	1.000000|1.000000	0.71417|0.71417	0.859000|0.859000	0.33776|0.33776	0.888000|0.888000	0.51559|0.51559	6.487000|6.487000	0.73633|0.73633	2.549000|2.549000	0.85964|0.85964	0.558000|0.558000	0.71614|0.71614	GCG|CGG		0.627	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		5	46	0	0	0	1	0	5	46				
DYDC2	84332	broad.mit.edu	37	10	82122275	82122275	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:82122275C>T	ENST00000372199.1	+	4	674	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	DYDC2_ENST00000372197.1_Missense_Mutation_p.P26S|DYDC2_ENST00000444807.2_Missense_Mutation_p.P26S|DYDC2_ENST00000372198.1_Missense_Mutation_p.P40S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P26S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	26										breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAAGGTTCGGCCCAGTGACCC	0.498																																						ENST00000372199.1																			0				breast(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(76-78)Ccc>Tcc		DPY30 domain containing 2							74.0	73.0	74.0					10																	82122275		2203	4300	6503	SO:0001583	missense	84332						protein binding	g.chr10:82122275C>T	BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.76C>T	10.37:g.82122275C>T	ENSP00000361273:p.Pro26Ser					DYDC2_ENST00000372197.1_Missense_Mutation_p.P26S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P26S|DYDC2_ENST00000444807.2_Missense_Mutation_p.P26S|DYDC2_ENST00000372198.1_Missense_Mutation_p.P40S	p.P26S			Q96IM9	DYDC2_HUMAN	Colorectal(32;0.229)		4	674	+			26					D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	ENST00000372199.1	37	c.76C>T	CCDS7367.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182960	0.78677	.	.	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000411538;ENST00000256039	D;D;D;D;D	0.87571	-2.17;-2.27;-2.17;-2.17;-2.17	5.54	5.54	0.83059	Dpy-30 motif (1);	0.000000	0.48767	D	0.000168	D	0.95755	0.8619	H	0.96861	3.895	0.38904	D	0.95739	D	0.89917	1.0	D	0.97110	1.0	D	0.97421	1.0009	10	0.87932	D	0	-14.3373	15.3403	0.74290	0.0:1.0:0.0:0.0	.	26	Q96IM9	DYDC2_HUMAN	S	26;40;26;26;26;26	ENSP00000361273:P26S;ENSP00000361272:P40S;ENSP00000361271:P26S;ENSP00000410285:P26S;ENSP00000256039:P26S	ENSP00000256039:P26S	P	+	1	0	DYDC2	82112255	0.996000	0.38824	0.996000	0.52242	0.697000	0.40408	4.858000	0.62947	2.779000	0.95612	0.591000	0.81541	CCC		0.498	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049063.1	NM_032372		29	32	0	0	0	1	0	29	32				
CLCN7	1186	broad.mit.edu	37	16	1498451	1498451	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:1498451G>A	ENST00000382745.4	-	21	2523	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.R616W|CLCN7_ENST00000262318.8_Missense_Mutation_p.R616W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	640	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TTCTCACGCCGCCTCAGGCAG	0.647																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1918-1920)Cgg>Tgg		chloride channel, voltage-sensitive 7							75.0	55.0	62.0					16																	1498451		2195	4300	6495	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1498451G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1918C>T	16.37:g.1498451G>A	ENSP00000372193:p.Arg640Trp					CLCN7_ENST00000262318.8_Missense_Mutation_p.R616W|CLCN7_ENST00000448525.1_Missense_Mutation_p.R616W	p.R640W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			21	2523	-		Hepatocellular(780;0.0893)	640			CBS 1.		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.1918C>T	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822568	0.50739	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93859	-3.3;-3.3	5.18	1.41	0.22369	Cystathionine beta-synthase, core (3);	0.131236	0.64402	D	0.000003	D	0.95124	0.8420	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.76494	0.998;0.994;0.999;0.999	D;D;D;P	0.68192	0.948;0.948;0.956;0.903	D	0.93648	0.6970	10	0.66056	D	0.02	-23.1703	11.8663	0.52495	0.0:0.0:0.4495:0.5505	.	616;616;640;89	A8K7X1;E9PDB9;P51798;B3KUD9	.;.;CLCN7_HUMAN;.	W	616;593;640;582	ENSP00000410907:R616W;ENSP00000372193:R640W	ENSP00000262318:R593W	R	-	1	2	CLCN7	1438452	0.929000	0.31497	0.802000	0.32245	0.366000	0.29705	0.197000	0.17197	-0.033000	0.13736	-0.500000	0.04577	CGG		0.647	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		9	28	0	0	0	1	0	9	28				
DCAF12L2	340578	broad.mit.edu	37	X	125299773	125299773	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:125299773C>T	ENST00000360028.2	-	1	161	c.135G>A	c.(133-135)ccG>ccA	p.P45P	DCAF12L2_ENST00000538699.1_Silent_p.P45P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	45										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GACGCGTCGCCGGCCGCTTCT	0.731																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(133-135)ccG>ccA		DDB1 and CUL4 associated factor 12-like 2							12.0	15.0	14.0					X																	125299773		1816	3705	5521	SO:0001819	synonymous_variant	340578							g.chrX:125299773C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.135G>A	X.37:g.125299773C>T						DCAF12L2_ENST00000360028.2_Silent_p.P45P	p.P45P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	215	-			45					B2RN42	Silent	SNP	ENST00000360028.2	37	c.135G>A	CCDS43991.1																																																																																				0.731	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		13	24	0	0	0	1	0	13	24				
TMEM134	80194	broad.mit.edu	37	11	67234993	67234993	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:67234993C>T	ENST00000308022.2	-	3	349	c.308G>A	c.(307-309)cGc>cAc	p.R103H	TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000452789.2_Missense_Mutation_p.R94H|TMEM134_ENST00000393877.3_Missense_Mutation_p.R103H	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	103						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GTTGTAGGAGCGCTGGGTGCT	0.682																																						ENST00000393877.3																			0				endometrium(1)|lung(1)	2						c.(307-309)cGc>cAc		transmembrane protein 134							59.0	57.0	58.0					11																	67234993		2200	4295	6495	SO:0001583	missense	80194					integral to membrane		g.chr11:67234993C>T	AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.308G>A	11.37:g.67234993C>T	ENSP00000312615:p.Arg103His					TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000308022.2_Missense_Mutation_p.R103H|TMEM134_ENST00000452789.2_Missense_Mutation_p.R94H	p.R103H	NM_001078650.1	NP_001072118.1	Q9H6X4	TM134_HUMAN			3	365	-			103					Q08AK4|Q6PJN3	Missense_Mutation	SNP	ENST00000308022.2	37	c.308G>A	CCDS8167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.11|14.11	2.437256|2.437256	0.43224|0.43224	.|.	.|.	ENSG00000172663|ENSG00000172663	ENST00000544903|ENST00000393877;ENST00000308022;ENST00000452789	.|.	.|.	.|.	3.94|3.94	3.94|3.94	0.45596|0.45596	.|.	.|0.341198	.|0.21397	.|N	.|0.075210	T|T	0.53318|0.53318	0.1789|0.1789	L|L	0.43152|0.43152	1.355|1.355	0.24531|0.24531	N|N	0.994117|0.994117	D;D|D;D;D;D	0.89917|0.89917	1.0;1.0|0.999;0.999;0.999;1.0	D;D|D;D;D;D	0.66602|0.83275	0.945;0.92|0.994;0.989;0.984;0.996	T|T	0.37865|0.37865	-0.9687|-0.9687	8|9	0.72032|0.44086	D|T	0.01|0.13	.|.	11.3339|11.3339	0.49492|0.49492	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	98;107|94;103;103;103	B4E0E3;G3V1M5|B4DLG6;Q9H6X4-3;Q9H6X4-2;Q9H6X4	.;.|.;.;.;TM134_HUMAN	T|H	107|103;103;94	.|.	ENSP00000440630:A98T|ENSP00000312615:R103H	A|R	-|-	1|2	0|0	TMEM134|TMEM134	66991569|66991569	0.838000|0.838000	0.29461|0.29461	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	0.025000|0.025000	0.13577|0.13577	2.050000|2.050000	0.60909|0.60909	0.289000|0.289000	0.19496|0.19496	GCT|CGC		0.682	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398994.1	NM_025124		15	45	0	0	0	1	0	15	45				
ASH1L	55870	broad.mit.edu	37	1	155317506	155317506	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:155317506G>A	ENST00000368346.3	-	20	8398	c.7759C>T	c.(7759-7761)Cgc>Tgc	p.R2587C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2582C|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2587					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGATACAGCGAATAACATCG	0.488																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(7759-7761)Cgc>Tgc		ash1 (absent, small, or homeotic)-like (Drosophila)							274.0	223.0	240.0					1																	155317506		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155317506G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7759C>T	1.37:g.155317506G>A	ENSP00000357330:p.Arg2587Cys					ASH1L_ENST00000392403.3_Missense_Mutation_p.R2582C	p.R2587C			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		20	8398	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2587					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7759C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.322506	0.95708	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.57436	0.4;0.4	5.4	5.4	0.78164	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.80336	0.4604	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85853	0.1405	10	0.87932	D	0	.	18.9481	0.92630	0.0:0.0:1.0:0.0	.	2587;2582	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	C	2587;2582	ENSP00000357330:R2587C;ENSP00000376204:R2582C	ENSP00000357330:R2587C	R	-	1	0	ASH1L	153584130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.504000	0.81646	2.809000	0.96659	0.655000	0.94253	CGC		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		6	91	0	0	0	1	0	6	91				
ESRP1	54845	broad.mit.edu	37	8	95683729	95683729	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:95683729C>A	ENST00000433389.2	+	11	1472	c.1282C>A	c.(1282-1284)Ccc>Acc	p.P428T	ESRP1_ENST00000423620.2_Missense_Mutation_p.P428T|ESRP1_ENST00000454170.2_Missense_Mutation_p.P428T|ESRP1_ENST00000358397.5_Missense_Mutation_p.P428T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	428					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCCAACCCCTCCCATTATTCC	0.478																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1282-1284)Ccc>Acc		epithelial splicing regulatory protein 1							117.0	114.0	115.0					8																	95683729		1902	4127	6029	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683729C>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1282C>A	8.37:g.95683729C>A	ENSP00000405738:p.Pro428Thr					ESRP1_ENST00000358397.5_Missense_Mutation_p.P428T|ESRP1_ENST00000454170.2_Missense_Mutation_p.P428T|ESRP1_ENST00000423620.2_Missense_Mutation_p.P428T	p.P428T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			11	1472	+			428					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1282C>A	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.194649|4.194649	0.78902|0.78902	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.14144|.	2.71;2.71;2.71;2.74;2.53|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72431|0.72431	0.3459|0.3459	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;P;P;P;D|.	0.76494|.	0.999;0.986;0.929;0.942;0.729;0.99|.	D;D;P;P;P;P|.	0.73380|.	0.98;0.918;0.771;0.562;0.544;0.831|.	T|T	0.70077|0.70077	-0.4971|-0.4971	10|5	0.25106|.	T|.	0.35|.	-12.0326|-12.0326	18.9087|18.9087	0.92474|0.92474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	428;428;428;428;428;428|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	T|Y	428;428;428;428;287|293	ENSP00000407349:P428T;ENSP00000405738:P428T;ENSP00000351168:P428T;ENSP00000402766:P428T;ENSP00000429125:P287T|.	ENSP00000351168:P428T|.	P|S	+|+	1|2	0|0	ESRP1|ESRP1	95752905|95752905	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.967000|2.967000	0.49216|0.49216	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.478	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		18	36	1	0	1.22574e-08	1	1.36994e-08	18	36				
FLNC	2318	broad.mit.edu	37	7	128493627	128493627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:128493627delC	ENST00000325888.8	+	38	6574	c.6313delC	c.(6313-6315)cccfs	p.P2105fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.P2072fs|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2105					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCCACCGAGCCCGGCACCTA	0.592																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6313-6315)ccfs		filamin C, gamma							100.0	108.0	105.0					7																	128493627		2066	4204	6270	SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493627delC	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6313delC	7.37:g.128493627delC	ENSP00000327145:p.Pro2105fs					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Del_p.P2072fs	p.P2105fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			38	6574	+			2105					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL	ENST00000325888.8	37	c.6313delC	CCDS43644.1																																																																																				0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			13	40						13	40	---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74441896	74441896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:74441896delC	ENST00000376332.3	-	1	534	c.38delG	c.(37-39)ggafs	p.G13fs	CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.G13fs|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	13					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGCGCGAGTCCCAGCAAGGA	0.662																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(37-39)gafs		chordin-like 2							56.0	45.0	49.0					11																	74441896		2198	4292	6490	SO:0001589	frameshift_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74441896delC	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.38delG	11.37:g.74441896delC	ENSP00000365510:p.Gly13fs					CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.G13fs	p.G13fs	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			1	534	-	Hepatocellular(1;0.098)		13					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Frame_Shift_Del	DEL	ENST00000376332.3	37	c.38delG																																																																																					0.662	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			2	4						2	4	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45150204	45150204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr13:45150204delG	ENST00000458659.2	-	1	497	c.7delC	c.(7-9)cagfs	p.Q3fs	TSC22D1_ENST00000501704.2_Frame_Shift_Del_p.Q3fs|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	3					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCAGGCGGCTGGTGCATTGTG	0.627																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(7-9)agfs		TSC22 domain family, member 1							7.0	9.0	8.0					13																	45150204		2160	4267	6427	SO:0001589	frameshift_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45150204delG	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.7delC	13.37:g.45150204delG	ENSP00000397435:p.Gln3fs					TSC22D1_ENST00000501704.2_Frame_Shift_Del_p.Q3fs	p.Q3fs	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	497	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	3					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Frame_Shift_Del	DEL	ENST00000458659.2	37	c.7delC	CCDS31966.1																																																																																				0.627	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		2	4						2	4	---	---	---	---
ABCC6P1	653190	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-	rs534869505	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		ccctgtctcgaaaaaaaaaaa	0.507													|||unknown(NO_COVERAGE)	1040	0.207668	0.2322	0.2075	5008	,	,		21098	0.1905		0.175	False		,,,				2504	0.226					ENST00000546162.2																			0																																																			0							g.chr16:18593649delA	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18593649delA								NR_003569.1						0	805	+									RNA	DEL	ENST00000546162.2	37																																																																																						0.507	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		7	9						7	9	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11058311	11058311	+	RNA	DEL	A	A	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr21:11058311delA	ENST00000470054.1	-	0	336							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTGCTTACAAAATGCACAT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							119.0	89.0	98.0					21																	11058311		692	1591	2283			85319							g.chr21:11058311delA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058311delA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	336	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	247						7	247	---	---	---	---
